Genetics: The branch of science concerned with the means and consequences of transmission and generation of the components of biological inheritance. (Stedman, 26th ed)Genetics, Population: The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.Genetics, Behavioral: The experimental study of the relationship between the genotype of an organism and its behavior. The scope includes the effects of genes on simple sensory processes to complex organization of the nervous system.Molecular Biology: A discipline concerned with studying biological phenomena in terms of the chemical and physical interactions of molecules.Genetic Variation: Genotypic differences observed among individuals in a population.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Genetic Testing: Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.Genetic Counseling: An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered.Models, Genetic: Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Genetic Services: Organized services to provide diagnosis, treatment, and prevention of genetic disorders.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Genetic Research: Research into the cause, transmission, amelioration, elimination, or enhancement of inherited disorders and traits.Genome-Wide Association Study: An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Genomics: The systematic study of the complete DNA sequences (GENOME) of organisms.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Eugenics: The attempt to improve the PHENOTYPES of future generations of the human population by fostering the reproduction of those with favorable phenotypes and GENOTYPES and hampering or preventing BREEDING by those with "undesirable" phenotypes and genotypes. The concept is largely discredited. (McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)Genetic Diseases, Inborn: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.Genetic Techniques: Chromosomal, biochemical, intracellular, and other methods used in the study of genetics.Microsatellite Repeats: A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).Selection, Genetic: Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.Crosses, Genetic: Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.Biological Evolution: The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.Polymorphism, Genetic: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Forensic Genetics: The application of genetic analyses and MOLECULAR DIAGNOSTIC TECHNIQUES to legal matters and crime analysis.Quantitative Trait, Heritable: A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)Inheritance Patterns: The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Genome, Human: The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.Genetic Loci: Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.Gene Frequency: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.Species Specificity: The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Epistasis, Genetic: A form of gene interaction whereby the expression of one gene interferes with or masks the expression of a different gene or genes. Genes whose expression interferes with or masks the effects of other genes are said to be epistatic to the effected genes. Genes whose expression is affected (blocked or masked) are hypostatic to the interfering genes.Human Genome Project: A coordinated effort of researchers to map (CHROMOSOME MAPPING) and sequence (SEQUENCE ANALYSIS, DNA) the human GENOME.Genetic Association Studies: The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.Pharmacogenetics: A branch of genetics which deals with the genetic variability in individual responses to drugs and drug metabolism (BIOTRANSFORMATION).Haplotypes: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.Environment: The external elements and conditions which surround, influence, and affect the life and development of an organism or population.Databases, Genetic: Databases devoted to knowledge about specific genes and gene products.Developmental Biology: The field of biology which deals with the process of the growth and differentiation of an organism.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Genetic Determinism: The theory that human CHARACTER and BEHAVIOR are shaped by the GENES that comprise the individual's GENOTYPE rather than by CULTURE; ENVIRONMENT; and individual choice.Genetic Privacy: The protection of genetic information about an individual, family, or population group, from unauthorized disclosure.Gene-Environment Interaction: The combined effects of genotypes and environmental factors together on phenotypic characteristics.Recombination, Genetic: Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.Linkage Disequilibrium: Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone.History, 20th Century: Time period from 1901 through 2000 of the common era.Genetics, Microbial: A subdiscipline of genetics which deals with the genetic mechanisms and processes of microorganisms.Genetic Phenomena: The processes, properties and biological objects that are involved in maintaining, expressing, and transmitting from one organism to another, genetically encoded traits.Multifactorial Inheritance: A phenotypic outcome (physical characteristic or disease predisposition) that is determined by more than one gene. Polygenic refers to those determined by many genes, while oligogenic refers to those determined by a few genes.Hybridization, Genetic: The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.Gene Flow: The change in gene frequency in a population due to migration of gametes or individuals (ANIMAL MIGRATION) across population barriers. In contrast, in GENETIC DRIFT the cause of gene frequency changes are not a result of population or gamete movement.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Drosophila: A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.Breeding: The production of offspring by selective mating or HYBRIDIZATION, GENETIC in animals or plants.Genes, Plant: The functional hereditary units of PLANTS.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.DNA, Plant: Deoxyribonucleic acid that makes up the genetic material of plants.DNA, Mitochondrial: Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.Genome, Plant: The genetic complement of a plant (PLANTS) as represented in its DNA.Genetic Heterogeneity: The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)Models, Biological: Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.History, 21st Century: Time period from 2001 through 2100 of the common era.Computational Biology: A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories for solving biological problems including manipulation of models and datasets.Software: Sequential operating programs and data which instruct the functioning of a digital computer.Geography: The science dealing with the earth and its life, especially the description of land, sea, and air and the distribution of plant and animal life, including humanity and human industries with reference to the mutual relations of these elements. (From Webster, 3d ed)Genetic Engineering: Directed modification of the gene complement of a living organism by such techniques as altering the DNA, substituting genetic material by means of a virus, transplanting whole nuclei, transplanting cell hybrids, etc.Individualized Medicine: Therapeutic approach tailoring therapy for genetically defined subgroups of patients.Heredity: The transmission of traits encoded in GENES from parent to offspring.Disease Models, Animal: Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.Reproduction: The total process by which organisms produce offspring. (Stedman, 25th ed)Genetic Speciation: The splitting of an ancestral species into daughter species that coexist in time (King, Dictionary of Genetics, 6th ed). Causal factors may include geographic isolation, HABITAT geometry, migration, REPRODUCTIVE ISOLATION, random GENETIC DRIFT and MUTATION.Endophenotypes: Measurable biological (physiological, biochemical, and anatomical features), behavioral (psychometric pattern) or cognitive markers that are found more often in individuals with a disease than in the general population. Because many endophenotypes are present before the disease onset and in individuals with heritable risk for disease such as unaffected family members, they can be used to help diagnose and search for causative genes.Inbreeding: The mating of plants or non-human animals which are closely related genetically.Genetic Drift: The fluctuation of the ALLELE FREQUENCY from one generation to the next.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Risk Factors: An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.Family Health: The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.Pigmentation: Coloration or discoloration of a part by a pigment.Nutrigenomics: The study of the relationship between NUTRITIONAL PHYSIOLOGY and genetic makeup. It includes the effect of different food components on GENE EXPRESSION and how variations in GENES effect responses to food components.Computer Simulation: Computer-based representation of physical systems and phenomena such as chemical processes.History, 19th Century: Time period from 1801 through 1900 of the common era.Genes: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.Diseases in Twins: Disorders affecting TWINS, one or both, at any age.Gene Expression Profiling: The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Lod Score: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."Algorithms: A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.Mutagenesis: Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.Twins, Monozygotic: Two off-spring from the same PREGNANCY. They are from a single fertilized OVUM that split into two EMBRYOS. Such twins are usually genetically identical and of the same sex.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.Mutagenesis, Insertional: Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt GENETIC TRANSLATION of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation.Genes, Insect: The functional hereditary units of INSECTS.Haploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.Internet: A loose confederation of computer communication networks around the world. The networks that make up the Internet are connected through several backbone networks. The Internet grew out of the US Government ARPAnet project and was designed to facilitate information exchange.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Population Dynamics: The pattern of any process, or the interrelationship of phenomena, which affects growth or change within a population.Societies, Scientific: Societies whose membership is limited to scientists.Likelihood Functions: Functions constructed from a statistical model and a set of observed data which give the probability of that data for various values of the unknown model parameters. Those parameter values that maximize the probability are the maximum likelihood estimates of the parameters.Systems Biology: Comprehensive, methodical analysis of complex biological systems by monitoring responses to perturbations of biological processes. Large scale, computerized collection and analysis of the data are used to develop and test models of biological systems.Epigenesis, Genetic: A genetic process by which the adult organism is realized via mechanisms that lead to the restriction in the possible fates of cells, eventually leading to their differentiated state. Mechanisms involved cause heritable changes to cells without changes to DNA sequence such as DNA METHYLATION; HISTONE modification; DNA REPLICATION TIMING; NUCLEOSOME positioning; and heterochromatization which result in selective gene expression or repression.Crops, Agricultural: Cultivated plants or agricultural produce such as grain, vegetables, or fruit. (From American Heritage Dictionary, 1982)Genotyping Techniques: Methods used to determine individuals' specific ALLELES or SNPS (single nucleotide polymorphisms).Arabidopsis: A plant genus of the family BRASSICACEAE that contains ARABIDOPSIS PROTEINS and MADS DOMAIN PROTEINS. The species A. thaliana is used for experiments in classical plant genetics as well as molecular genetic studies in plant physiology, biochemistry, and development.Homozygote: An individual in which both alleles at a given locus are identical.Heterozygote Detection: Identification of genetic carriers for a given trait.Zebrafish: An exotic species of the family CYPRINIDAE, originally from Asia, that has been introduced in North America. They are used in embryological studies and to study the effects of certain chemicals on development.Chromosomes, Human: Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.Twins, Dizygotic: Two offspring from the same PREGNANCY. They are from two OVA, fertilized at about the same time by two SPERMATOZOA. Such twins are genetically distinct and can be of different sexes.Bayes Theorem: A theorem in probability theory named for Thomas Bayes (1702-1761). In epidemiology, it is used to obtain the probability of disease in a group of people with some characteristic on the basis of the overall rate of that disease and of the likelihood of that characteristic in healthy and diseased individuals. The most familiar application is in clinical decision analysis where it is used for estimating the probability of a particular diagnosis given the appearance of some symptoms or test result.Family: A social group consisting of parents or parent substitutes and children.Flowers: The reproductive organs of plants.Cluster Analysis: A set of statistical methods used to group variables or observations into strongly inter-related subgroups. In epidemiology, it may be used to analyze a closely grouped series of events or cases of disease or other health-related phenomenon with well-defined distribution patterns in relation to time or place or both.Phylogeography: A field of study concerned with the principles and processes governing the geographic distributions of genealogical lineages, especially those within and among closely related species. (Avise, J.C., Phylogeography: The History and Formation of Species. Harvard University Press, 2000)Genetic Complementation Test: A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.Age of Onset: The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.Caenorhabditis elegans: A species of nematode that is widely used in biological, biochemical, and genetic studies.EuropeDisease: A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown.Neoplasms: New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms.Ecology: The branch of science concerned with the interrelationship of organisms and their ENVIRONMENT, especially as manifested by natural cycles and rhythms, community development and structure, interactions between different kinds of organisms, geographic distributions, and population alterations. (Webster's, 3d ed)Neoplastic Syndromes, Hereditary: The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.Genetic Enhancement: The use of genetic methodologies to improve functional capacities of an organism rather than to treat disease.Penetrance: The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed)Diploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.Curriculum: A course of study offered by an educational institution.United StatesSchizophrenia: A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior.Oligonucleotide Array Sequence Analysis: Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.Sequence Alignment: The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.Mice, Inbred Strains: Genetically identical individuals developed from brother and sister matings which have been carried out for twenty or more generations, or by parent x offspring matings carried out with certain restrictions. All animals within an inbred strain trace back to a common ancestor in the twentieth generation.Cloning, Molecular: The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.Syndrome: A characteristic symptom complex.Endangered Species: An animal or plant species in danger of extinction. Causes can include human activity, changing climate, or change in predator/prey ratios.High-Throughput Nucleotide Sequencing: Techniques of nucleotide sequence analysis that increase the range, complexity, sensitivity, and accuracy of results by greatly increasing the scale of operations and thus the number of nucleotides, and the number of copies of each nucleotide sequenced. The sequencing may be done by analysis of the synthesis or ligation products, hybridization to preexisting sequences, etc.Virulence: The degree of pathogenicity within a group or species of microorganisms or viruses as indicated by case fatality rates and/or the ability of the organism to invade the tissues of the host. The pathogenic capacity of an organism is determined by its VIRULENCE FACTORS.Chromosomes: In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Genome, Mitochondrial: The genetic complement of MITOCHONDRIA as represented in their DNA.DNA Primers: Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.Alcoholism: A primary, chronic disease with genetic, psychosocial, and environmental factors influencing its development and manifestations. The disease is often progressive and fatal. It is characterized by impaired control over drinking, preoccupation with the drug alcohol, use of alcohol despite adverse consequences, and distortions in thinking, most notably denial. Each of these symptoms may be continuous or periodic. (Morse & Flavin for the Joint Commission of the National Council on Alcoholism and Drug Dependence and the American Society of Addiction Medicine to Study the Definition and Criteria for the Diagnosis of Alcoholism: in JAMA 1992;268:1012-4)Multigene Family: A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)Models, Statistical: Statistical formulations or analyses which, when applied to data and found to fit the data, are then used to verify the assumptions and parameters used in the analysis. Examples of statistical models are the linear model, binomial model, polynomial model, two-parameter model, etc.Expressed Sequence Tags: Partial cDNA (DNA, COMPLEMENTARY) sequences that are unique to the cDNAs from which they were derived.Plants: Multicellular, eukaryotic life forms of kingdom Plantae (sensu lato), comprising the VIRIDIPLANTAE; RHODOPHYTA; and GLAUCOPHYTA; all of which acquired chloroplasts by direct endosymbiosis of CYANOBACTERIA. They are characterized by a mainly photosynthetic mode of nutrition; essentially unlimited growth at localized regions of cell divisions (MERISTEMS); cellulose within cells providing rigidity; the absence of organs of locomotion; absence of nervous and sensory systems; and an alternation of haploid and diploid generations.European Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Europe.MedlinePlus: NATIONAL LIBRARY OF MEDICINE service for health professionals and consumers. It links extensive information from the National Institutes of Health and other reviewed sources of information on specific diseases and conditions.Zoology: The study of animals - their morphology, growth, distribution, classification, and behavior.Prenatal Diagnosis: Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.Principal Component Analysis: Mathematical procedure that transforms a number of possibly correlated variables into a smaller number of uncorrelated variables called principal components.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Neurobiology: The study of the structure, growth, activities, and functions of NEURONS and the NERVOUS SYSTEM.DNA Transposable Elements: Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.Amplified Fragment Length Polymorphism Analysis: The detection of RESTRICTION FRAGMENT LENGTH POLYMORPHISMS by selective PCR amplification of restriction fragments derived from genomic DNA followed by electrophoretic analysis of the amplified restriction fragments.Adaptation, Biological: Changes in biological features that help an organism cope with its ENVIRONMENT. These changes include physiological (ADAPTATION, PHYSIOLOGICAL), phenotypic and genetic changes.Twins: Two individuals derived from two FETUSES that were fertilized at or about the same time, developed in the UTERUS simultaneously, and born to the same mother. Twins are either monozygotic (TWINS, MONOZYGOTIC) or dizygotic (TWINS, DIZYGOTIC).Gene Expression Regulation: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.Ecosystem: A functional system which includes the organisms of a natural community together with their environment. (McGraw Hill Dictionary of Scientific and Technical Terms, 4th ed)Animals, Genetically Modified: ANIMALS whose GENOME has been altered by GENETIC ENGINEERING, or their offspring.Gene Regulatory Networks: Interacting DNA-encoded regulatory subsystems in the GENOME that coordinate input from activator and repressor TRANSCRIPTION FACTORS during development, cell differentiation, or in response to environmental cues. The networks function to ultimately specify expression of particular sets of GENES for specific conditions, times, or locations.Signal Transduction: The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.Virus Replication: The process of intracellular viral multiplication, consisting of the synthesis of PROTEINS; NUCLEIC ACIDS; and sometimes LIPIDS, and their assembly into a new infectious particle.Ethics, Medical: The principles of professional conduct concerning the rights and duties of the physician, relations with patients and fellow practitioners, as well as actions of the physician in patient care and interpersonal relations with patient families.Influenza A virus: The type species of the genus INFLUENZAVIRUS A that causes influenza and other diseases in humans and animals. Antigenic variation occurs frequently between strains, allowing classification into subtypes and variants. Transmission is usually by aerosol (human and most non-aquatic hosts) or waterborne (ducks). Infected birds shed the virus in their saliva, nasal secretions, and feces.Population Density: Number of individuals in a population relative to space.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.DNA: A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).Reproduction, Asexual: Reproduction without fusion of two types of cells, mostly found in ALGAE; FUNGI; and PLANTS. Asexual reproduction occurs in several ways, such as budding, fission, or splitting from "parent" cells. Only few groups of ANIMALS reproduce asexually or unisexually (PARTHENOGENESIS).Hair Color: Color of hair or fur.DNA, Helminth: Deoxyribonucleic acid that makes up the genetic material of helminths.History, Ancient: The period of history before 500 of the common era.Genome, Viral: The complete genetic complement contained in a DNA or RNA molecule in a virus.Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.Longevity: The normal length of time of an organism's life.X Chromosome: The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.Bioethics: A branch of applied ethics that studies the value implications of practices and developments in life sciences, medicine, and health care.Biomedical Research: Research that involves the application of the natural sciences, especially biology and physiology, to medicine.Ethylnitrosourea: A nitrosourea compound with alkylating, carcinogenic, and mutagenic properties.Genome, Insect: The genetic complement of an insect (INSECTS) as represented in its DNA.Models, Animal: Non-human animals, selected because of specific characteristics, for use in experimental research, teaching, or testing.Consanguinity: The magnitude of INBREEDING in humans.Genome, Helminth: The genetic complement of a helminth (HELMINTHS) as represented in its DNA.Nursing Education Research: Investigations into the problems of integrating research findings into nursing curricula, developing problem solving skills, finding approaches to clinical teaching, determining the level of practice by graduates from different basic preparations, etc.Molecular Sequence Annotation: The addition of descriptive information about the function or structure of a molecular sequence to its MOLECULAR SEQUENCE DATA record.Plasmids: Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.Ethyl Methanesulfonate: An antineoplastic agent with alkylating properties. It also acts as a mutagen by damaging DNA and is used experimentally for that effect.Gene Expression: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.User-Computer Interface: The portion of an interactive computer program that issues messages to and receives commands from a user.Gene Expression Regulation, Plant: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in plants.Reassortant Viruses: Viruses containing two or more pieces of nucleic acid (segmented genome) from different parents. Such viruses are produced in cells coinfected with different strains of a given virus.
"Hereditary hypophosphatemic rickets". Genetics Home Reference. September 2010. Archived from the original on 10 October 2012. ... Autosomal dominant hypophosphatemic rickets (ADHR) is a rare hereditary disease in which excessive loss of phosphate in the ...
... a variant form of hereditary coproporphyria". Human Molecular Genetics. 4 (2): 275-8. doi:10.1093/hmg/4.2.275. PMID 7757079. ... "CPOX". Genetics Home Reference. Retrieved 8 August 2011. Sano S, Granick S (April 1961). "Mitochondrial coproporphyrinogen ... Hereditary coproporphyria (HCP) and harderoporphyria are two phenotypically separate disorders that concern partial deficiency ... The medical condition associated with this enzyme defect is called hereditary coproporphyria. CPOX, the sixth enzyme of the ...
"Hereditary paraganglioma-pheochromocytoma". Genetics Home Reference. U.S. National Library of Medicine. Retrieved 26 March 2015 ... "SDHD". Genetics Home Reference. U.S. National Library of Medicine. Retrieved 26 March 2015. Bayley JP, Weiss MM, Grimbergen A, ... Mutations in the SDHD gene have been found in a small number of people with Carney-Stratakis syndrome, a hereditary form of a ... Germline mutations in SDHD were first linked to hereditary paraganglioma in 2000. Since then, it has been shown that mutations ...
Human Molecular Genetics. 14 (20): 3089-3098. doi:10.1093/hmg/ddi342. PMID 16159891. "#121300 COPROPORPHYRIA, HEREDITARY; HCP ... Mutations in CPOX usually cause hereditary coproporphyria, an acute hepatic porphyria, however the K404E mutation in a ... A variant hereditary coproporphyria". Journal of Clinical Investigation. 72 (3): 1139-1149. doi:10.1172/JCI111039. PMC 1129282 ... "Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic ...
Journal of Human Genetics. 51 (10): 846-50. doi:10.1007/s10038-006-0031-3. PMID 16924388. "Hereditary Lymphedema". Retrieved ... A third type of hereditary lymphedema, that has an onset after the age of 35 is known as lymph-edema tarda. MD does not ... Milroy's disease is also known as primary or hereditary lymphedema type 1A or early onset lymphedema. It is a very rare disease ... It is also known as Milroy disease, Nonne-Milroy-Meige syndrome and hereditary lymphedema. It was named by Sir William Osler ...
Disease: Hereditary spastic paraplegia". Human Genetics. 127 (1): 112. PMID 20108387. Tamm, Riin; Saks, Kai; Pääsuke, Mati ( ... Tamm is a board member of the Estonian Society of Human Genetics (Eesti Inimesegeneetika Ühing) and the Estonian Association of ... Tamm has authored or co-authored various papers on subjects related to human genetics and gerontology, including the following ... "Juhatus". Estonian Society of Human Genetics. Retrieved 2012-12-14. Kerge, Rainer (16 June 2012). "Geneetik Riin Tamm: "Inimese ...
"Genetics or yams in the Land of Twins?". Independent Online. 2007-11-12. Retrieved 2008-09-29. "The Land of Twins". BBC World ... Spontaneous division of the zygote into two embryos is not considered to be a hereditary trait, but rather a spontaneous and ... Twin studies are utilized in an attempt to determine how much of a particular trait is attributable to either genetics or ... Twins genetics, details of environmental impacts. Proactivegenetics.com. Retrieved on 2013-08-10. Thorpe, K (June 2006). "Twin ...
Lederberg, J (1952). "Cell genetics and hereditary symbiosis". Physiological Reviews. 32 (4): 403-30. doi:10.1152/physrev. ... "Genome and genetics timeline - 1973". Genome news network. Arnold, Paul (2009). "History of Genetics: Genetic Engineering ... Hartl, D. L.; Orel, V. (1992). "What Did Gregor Mendel Think He Discovered?". Genetics. 131 (2): 245-25. PMC 1205000 . PMID ... Although largely ignored for 34 years he provided the first evidence of hereditary segregation and independent assortment. In ...
Jasperson KW, Tuohy TM, Neklason DW, Burt RW (Jun 2010). "Hereditary and familial colon cancer". Gastroenterology. 138 (6): ... PLoS Genetics. 4 (8): e1000155. doi:10.1371/journal.pgen.1000155. PMC 2491723 . PMID 18704159. Cuozzo C, Porcellini A, ... PLoS Genetics. 3 (7): e110. doi:10.1371/journal.pgen.0030110. PMC 1913100 . PMID 17616978. ...
Bilginturan, N.; Zileli, S.; Karacadag, S.; Pirnar, T. (1973-09-01). "Hereditary Brachydactyly Associated with Hypertension". ... Journal of Medical Genetics. 10 (3): 253-259. ISSN 0022-2593. PMC 1013029 . PMID 4774535. Maass, Philipp G.; Aydin, Atakan; ... Nature Genetics. 47 (6): 647-653. doi:10.1038/ng.3302. ISSN 1546-1718. PMID 25961942. ... American Journal of Medical Genetics. 73 (3): 279-285. ISSN 0148-7299. PMID 9415685. ...
"Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene". Nature Genetics. 14 (2): 141-5. doi:10.1038/ ... A mutation at Arg 117, a trypsin-sensitive site, in cationic trypsinogen has been implicated in hereditary pancreatitis, a rare ... Rebours V, Lévy P, Ruszniewski P (2011). "An overview of hereditary pancreatitiss". Digestive and Liver Disease. 44 (1): 8-15. ...
doi:10.1534/genetics.111.134668. PMC 3276617 . PMID 22345605. Ye K; Beekman M; Lameijer EW; Zhang Y; Moed MH; van den Akker EB ... Jasperson KW, Tuohy TM, Neklason DW, Burt RW (2010). "Hereditary and familial colon cancer". Gastroenterology. 138 (6): 2044- ... July 2007). "DNA damage, homology-directed repair, and DNA methylation". PLoS Genetics. 3 (7): e110. doi:10.1371/journal.pgen. ... Esteller M (April 2007). "Cancer epigenomics: DNA methylomes and histone-modification maps". Nature Reviews Genetics. 8 (4): ...
Lederberg, J (1952). "Cell genetics and hereditary symbiosis". Physiological Reviews. 32 (4): 403-30. doi:10.1152/physrev. ... July 2010). "TAL Effector Nucleases Create Targeted DNA Double-strand Breaks". Genetics. 186 (2): 757-61. doi:10.1534/genetics. ... Processes that look at a phenotype and then try and identify the gene responsible for it are called forward genetics. The gene ... doi:10.1534/genetics.109.112144. PMC 2815933 . PMID 20061565. James, Clive (2008). "Global Status of Commercialized Biotech/GM ...
Current Genetics. 25 (5): 423-431. doi:10.1007/BF00351781. Preer Jr., John R. (1971). "Extrachromosomal inheritance: Hereditary ... symbionts, mitochondria, chloroplasts". Annual Review of Genetics. 5: 361-406. doi:10.1146/annurev.ge.05.120171.002045. PMID ...
Certain variations of the BRCA1 gene lead to an increased risk for breast cancer as part of a hereditary breast-ovarian cancer ... "Genetics". Breastcancer.org. 2012-09-17. Mazoyer S (May 2005). "Genomic rearrangements in the BRCA1 and BRCA2 genes". Hum. ... "Genetics and Patenting". Human Genome Project Information. U.S. Department of Energy Genome Programs. 2010-07-07. Liptak, Adam ... Yvonne D'Arcy won her case against US-based biotech company Myriad Genetics in the High Court of Australia. In their unanimous ...
Axelsson U, Laurell CB (November 1965). "Hereditary variants of serum alpha-1-antitrypsin". American Journal of Human Genetics ... Crystal RG (December 1989). "The alpha 1-antitrypsin gene and its deficiency states". Trends in Genetics. 5 (12): 411-7. doi: ... an autosomal codominant hereditary disorder in which a deficiency of alpha-1 antitrypsin leads to a chronic uninhibited tissue ...
"The Genetics of Deafness; A Guide for Patients and Families" (PDF). Harvard Medical School Center For Hereditary Deafness. ... From a genetic standpoint, this accounts for the other 70% of cases, and represents the majority of hereditary hearing loss. ... Hearing loss may be caused by a number of factors, including: genetics, ageing, exposure to noise, some infections, birth ... When looking at the genetics of deafness, there are 2 different forms, syndromic and nonsyndromic. Syndromic deafness occurs ...
"Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25". Human Genetics. 101 (3): ... "Mutations in SEPT9 cause hereditary neuralgic amyotrophy". Nature Genetics. 37 (10): 1044-6. doi:10.1038/ng1649. PMID 16186812 ... Hereditary neuralgic amyotrophy ENSG00000184640 GRCh38: Ensembl release 89: ENSG00000282302, ENSG00000184640 - Ensembl, May ...
Toriello, Helga V.; Smith, Shelley D. (2013). Hereditary Hearing Loss and Its Syndromes. Oxford University Press. p. 405. ISBN ... European journal of medical genetics. 51 (4): 351-7. doi:10.1016/j.ejmg.2008.02.008. PMID 18440889. ...
Genetics. 207: 215-228. doi:10.1534/genetics.117.1125. PMID 28739660. CS1 maint: Multiple names: authors list (link) Buchta RM ... Viseskul C, Gilbert EF, Sarto GE, Opitz JM (August 1973). "Familial bilateral renal agenesis and hereditary renal adysplasia". ...
Mutations in this gene cause hereditary lymphedema type IA. FLT4 has been shown to interact with SHC1. VEGF receptors GRCh38: ... Human Molecular Genetics. 7 (13): 2073-8. doi:10.1093/hmg/7.13.2073. PMID 9817924. Fournier E, Blaikie P, Rosnet O, Margolis B ... Ferrell RE, Levinson KL, Esman JH, Kimak MA, Lawrence EC, Barmada MM, Finegold DN (December 1998). "Hereditary lymphedema: ... Irrthum A, Karkkainen MJ, Devriendt K, Alitalo K, Vikkula M (August 2000). "Congenital hereditary lymphedema caused by a ...
The genotype-phenotype distinction is drawn in genetics. "Genotype" is an organism's full hereditary information. "Phenotype" ... According to Lewontin, the theoretical task for population genetics is a process in two spaces: a "genotypic space" and a " ... Even leaving aside for the moment the non-Mendelian aspects of molecular genetics, this is clearly a gargantuan task. ... In practice, there are two bodies of evolutionary theory that exist in parallel, traditional population genetics operating in ...
"Unraveling the genetics of distal hereditary motor neuronopathies". NeuroMolecular Medicine. 8 (1-2): 131-146. doi:10.1385/NMM: ... Distal hereditary motor neuropathies Spinal muscular atrophies Spinal muscular atrophy Messina, M. F.; Messina, S.; Gaeta, M.; ... Currently, various classifications include DSMA1 among general spinal muscular atrophies or distal hereditary motor ... distal hereditary motor neuronopathy type 6 (DHMN6), and severe infantile axonal neuronopathy with respiratory failure (SIANRF ...
"Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy". The American Journal of Human Genetics. 91 (6 ... Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta ... Sanger Institute Mouse Genetics Project, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, ... distal hereditary motor neuropathy type 7A). Model organisms have been used in the study of SLC5A7 function. A conditional ...
"Deafness and Hereditary Hearing Loss Overview". 1993. PMID 20301607. Vanwesemael M, Schrauwen I, Ceuppens R, Alasti F, Jorssen ... Annals of Human Genetics. 71 (Pt 2): 271-5. doi:10.1111/j.1469-1809.2006.00337.x. PMID 17166180. Du X, Schwander M, Moresco EM ... Human Genetics. 120 (6): 789-93. doi:10.1007/s00439-006-0275-1. PMID 17066295. Kalay E, Caylan R, Kiroglu AF, Yasar T, Collin ... Nature Genetics. 40 (11): 1335-40. doi:10.1038/ng.245. PMC 3404732 . PMID 18953341. This article incorporates text from the ...
Genetics. A 2011 Study showed that Marsh Arabs have a high concentration of Y-chomosomal Haplogroup J-M267 and mtDNA ... would also follow the authority of the hereditary qalit "headman" of a tribe's particular section. ...
genetic hemochromatosis, see Hereditary hemochromatosis. *genital renal ear syndrome (GRES), see Mayer-Rokitansky-Küster-Hauser ... Health Conditions - Genetics Home Reference. *G1D, see GLUT1 deficiency syndrome. *G6PD deficiency, see Glucose-6-phosphate ...
hereditary lymphedema type I, see Milroy disease. *hereditary motor and sensory neuropathy, see hereditary neuropathy with ... hereditary sensory neuropathy type IA. *hereditary sensory neuropathy type IE, see hereditary sensory and autonomic neuropathy ... hereditary brachial plexus neuropathy, see hereditary neuralgic amyotrophy. *hereditary bundle branch defect, see progressive ... hereditary desmoid disease, see desmoid tumor. *hereditary diffuse gastric adenocarcinoma, see hereditary diffuse gastric ...
Complement levels may be decreased due to increased consumption or, more rarely, a hereditary deficiency. Hereditary deficiency ... then each of the nine different complement levels can be measured individually to look for hereditary or acquired deficiencies. ...
distal hereditary motor neuronopathy, type II, see distal hereditary motor neuropathy, type II ... distal hereditary motor neuronopathy, type V, see distal hereditary motor neuropathy, type V ... distal hereditary motor neuronopathy type 5, see distal hereditary motor neuropathy, type V ... Health Conditions - Genetics Home Reference. Health Conditions. Explore the signs and symptoms, frequency, genetic cause, and ...
The summary also contains an extensive list of genetics resources available online. ... Expert-reviewed information summary in which the features of hereditary cancer and the structure and content of other PDQ ... Prostate Cancer, Hereditary (Genetics of Prostate Cancer).. *Renal Cell Cancer, Hereditary with Uterine Leiomyomas (Genetics of ... Paraganglioma, Hereditary (Genetics of Endocrine and Neuroendocrine Neoplasias).. *Pheochromocytoma, Hereditary (Genetics of ...
Hereditary spherocytosis is a condition that affects red blood cells. Explore symptoms, inheritance, genetics of this condition ... Genetics Home Reference has merged with MedlinePlus. Genetics Home Reference content now can be found in the "Genetics" section ... From Genetics Home Reference. Learn more Description. Hereditary spherocytosis is a condition that affects red blood cells. ... medlineplus.gov/genetics/condition/hereditary-spherocytosis/ Hereditary spherocytosis. ...
Hereditary pancreatitis is a genetic condition characterized by recurrent episodes of inflammation of the pancreas ( ... Genetics Home Reference has merged with MedlinePlus. Genetics Home Reference content now can be found in the "Genetics" section ... From Genetics Home Reference. Learn more Description. Hereditary pancreatitis is a genetic condition characterized by recurrent ... medlineplus.gov/genetics/condition/hereditary-pancreatitis/ Hereditary pancreatitis. ...
Learn about how genetics affects the development of Parkinsons disease, and when to talk to a doctor about family history and ... Genetics and Parkinsons disease. Certain genes that increase the risk of Parkinsons developing may be passed down through ... In this article, learn about how genetics affect the development of Parkinsons disease, and when to talk to a doctor about ... "Is Parkinsons disease passed on through genetics?." Medical News Today. MediLexicon, Intl., 10 Jan. 2018. Web.. 18 Jan. 2019 ...
But is lung cancer hereditary? While researchers have found a genetic link, most cases of lung cancer are actually caused by ... Genetics. Genetics do play a role in lung cancer. You may inherit an abnormal gene that could lead to lung cancer. Or you may ... The genetics of lung cancer is the subject of much ongoing research. A 2017 meta-analysis of lung cancer studies found that ... Is Lung Cancer Hereditary?. Medically reviewed by Yamini Ranchod, PhD, MS on May 2, 2018. - Written by Marjorie Hecht ...
Your Name) has forwarded a page to you from Genetics Message Body (Your Name) thought you would be interested in this article ... Thank you for sharing this Genetics article.. NOTE: We request your email address only to inform the recipient that it was you ... The Genetics Society of America (GSA), founded in 1931, is the professional membership organization for scientific researchers ... AN HEREDITARY COMPLEX IN THE DOMESTIC FOWL Message Subject ( ... AN HEREDITARY COMPLEX IN THE DOMESTIC FOWL. C. H. Danforth. ...
I participate in research focused on developing and implementing digital tools to be applied to clinical genetics. I am also an ... I participate in research focused on developing and implementing digital tools to be applied to clinical genetics. ... Hereditary Cancer & Genetics More About Hereditary Cancer & Genetics Genetic Testing & Counseling at Memorial Sloan Kettering ...
Here we show that mutations in DNMT1 cause both central and peripheral neurodegeneration in one form of hereditary sensory and ... Christopher Klein and colleagues report that DNMT1 is disrupted in hereditary sensory neuropathy with dementia and hearing loss ... Hereditary sensory neuropathy with deafness and dementia: a clinical and neuroimaging study. Eur. J. Neurol. 6, 357-361 (1999). ... Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. *Christopher J Klein1. , ...
... Jul 16 2018 In a Basic Science-in-Focus session Dr. Patrick Gallagher ( ... Yale University School of Medicine, New Haven, USA) focused on the inheritance, presentation and diagnosis of hereditary ... presentation and diagnosis of hereditary spherocytosis (HS). ...
Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies.. Revesz T1, Holton JL, Lashley T ... Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies. Acta Neuropathol. ;118(1):115-130 ... Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies. Acta Neuropathol. ;118(1):115-130 ... Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies. Acta Neuropathol. ;118(1):115-130 ...
Hereditary Cancer & Genetics More About Hereditary Cancer & Genetics Genetic Testing & Counseling at Memorial Sloan Kettering ...
... may be an underestimated cause of hereditary cancer syndromes given the current limitations of short-read next-generation ... Hereditary Cancer Program, BC Cancer, Vancouver, BC, Canada. My Linh Thibodeau MD, MSc, Alexandra Fok MSc, Sophie Sun MD, Carol ... Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada. My Linh Thibodeau MD, MSc, Katherine ... Thibodeau, M.L., ONeill, K., Dixon, K. et al. Improved structural variant interpretation for hereditary cancer susceptibility ...
The prevalence of the Hereditary Motor and Sensory Neuropathy Type 1A (HMSN 1A or Charcot-Marie-Tooth Neuropathy 1A, CMT1A) ... Hereditary peripheral neuropathies are the most common monogenetically inherited diseases of the nervous system. ... Clinical features and molecular genetics of hereditary peripheral neuropathies J Neurol. 2002 Dec;249(12):1629-50. doi: 10.1007 ... Hereditary peripheral neuropathies are the most common monogenetically inherited diseases of the nervous system. The prevalence ...
... Cancer. 1999 Dec 1;86(11 Suppl):2464-77. doi: 10.1002/(sici)1097-0142 ... This finding represents a third melanoma gene but one that accounts for only a tiny fraction of all hereditary melanoma. ...
... more about the condition and find out whether you may have an increased risk of developing iron overload based on your genetics ... 2018). "Hereditary Hemochromatosis." Genetics Home Reference. U.S. National Library of Medicine. (2018). "HFE." Genetics Home ... Is hereditary hemochromatosis genetic? Yes. Hereditary hemochromatosis is a genetic condition. Most cases of hereditary ... Hereditary Hemochromatosis What is hereditary hemochromatosis? Hemochromatosis is a condition in which the body absorbs too ...
... *Cancer Genetics Information Summaries (US National Cancer Institute) ... SOURCE: Genetics and Hereditary Cancer Websites ( ) Page printed: . Unofficial document if printed. Please refer to SOURCE for ... For BC Cancer information about hereditary cancer see Hereditary Cancer Program.. For information in other languages see ... Hereditary Breast and Ovarian Cancer Society. Books and pamphlets. *Breast Cancer in the Family: What You Need to Know (Willow) ...
... read on to learn more about the genetics of hereditary hemochromatosis, the symptoms, how common this disorder is, and how it ... Genetics of Hereditary Hemochromatosis. Understanding the genetics of hereditary hemochromatosis allow us to understand the ... Hereditary hemochromatosis is a genetic disorder and is quite common in the United States. Knowing the genetics of hereditary ... Genetics of Hereditary Hemochromatosis. written by: R. Elizabeth C. Kitchen•edited by: Emma Lloyd•updated: 6/27/2010 ...
Hereditary Genetics January 13, 2004 A Must for Children with ADHD. A recent study has changed my thinking about ADHD, and I ...
Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees. Genetics1995;140:285-302. ... Journal of Medical Genetics 2016; 53 493-493 Published Online First: 23 Jun 2016. doi: 10.1136/jmg.2003.011247corr1 ... Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet1991; ... Lebers hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations. J Med Genet1995;32:81-7. ...
Hereditary motor and sensory neuropathies (HMSN) have been previously classified on the basis of clinical course, mode of ... Mancardi G.L. (1999) Genetics of Hereditary Neuropathies. In: Martino G., Adorini L. (eds) From Basic Immunology to Immune- ... 1993) DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72: 143-151PubMedCrossRef ... Hereditary motor and sensory neuropathies (HMSN) have been previously classified on the basis of clinical course, mode of ...
Hereditary Hemochromatosis. Hereditary hemochromatosis is a genetic condition characterized by excessive iron absorption and ... Center for Human Genetics Laboratory. 10524 Euclid Ave, Sixth Floor. Cleveland, OH 44106. 216-983-1134 ... For local samples, please call the Center for Human Genetics Laboratory (216-983-1134) to arrange for sample pick-up. ... These two mutations account for greater than 90 percent of all hereditary hemochromatosis cases. ...
DeficiencyOvarianColorectalHNPCCHuman GeneticsMolecular geneticsMutationForm of hereditaryPredispositionAmbry GeneticsAcute attacks of hereditary angioedemaGenes associatedHemochromatosis is a geneticCases of hereditaryMotor and sensory neuropathiesAffected by hereditary hemochromatosisDiagnosis of hereditary hemochromatosisPatients with hereditary hemochromatosisCancersSensoryBRCA1 and BRCA2Signs of Hereditary CancerInherited diseasesAutosomal recessiveDiffuse gastricPancreaticClinical geneticsAbstractNonpolyposis colon cancerMyriad GeneticsSpasticDiseaseSymptomsColon cancerInheritanceHereditySporadic and hereditary
- This graph depicts the general finding of a low relative risk associated with common, low-penetrance genetic variants, such as single-nucleotide polymorphisms identified in genome-wide association studies, and a higher relative risk associated with rare, high-penetrance genetic variants, such as pathogenic variants in the BRCA1 / BRCA2 genes associated with hereditary breast and ovarian cancer and the mismatch repair genes associated with Lynch syndrome. (cancer.gov)
- Researchers from Ambry Genetics (Ambry), a leading clinical genetics testing company, will present results documenting discrepancies between U.S. insurer policies for genetic testing and the 2019 National Comprehensive Cancer Network (NCCN) medical management guidelines for patients at risk for hereditary breast and ovarian cancer (HBOC). (bio-medicine.org)
- Read the full story at https://www.prweb.com/releases/ambry_genetics_research_highlights_need_for_expanded_genetic_testing_payer_coverage_for_patients_at_risk_for_hereditary_breast_and_ovarian_cancer/prweb16280632.htm . (bio-medicine.org)
- A woman is at increased risk for ovarian cancer if she has Lynch syndrome, also called hereditary nonpolyposis colon cancer (HNPCC). (nyhq.org)
- Cases of cancer commonly encountered by obstetrician-gynecologists or other obstetric-gynecologic providers-such as breast cancer, ovarian cancer, and endometrial cancer-are features of specific hereditary cancer syndromes. (acog.org)
- The most common hereditary cancer syndromes related to gynecologic cancer include hereditary breast and ovarian cancer syndrome, Lynch syndrome, Li-Fraumeni syndrome, Cowden syndrome, and Peutz-Jeghers syndrome. (acog.org)
- The focus of this Committee Opinion is hereditary cancer syndromes that include risks of breast cancer, ovarian cancer, and endometrial cancer. (acog.org)
- The Myriad myRisk Hereditary Cancer test uses next-generation sequencing technology to evaluate 25 clinically significant genes associated with eight hereditary cancer sites including: breast, colon, ovarian, endometrial, pancreatic, prostate and gastric cancers and melanoma. (cnbc.com)
- Women who carry a mutation in either of BRCA genes have a condition called Hereditary Breast Ovarian Cancers (HBOC) syndrome. (datarpgx.com)
- Some more genes have also been found to be responsible for Hereditary Breast or Ovarian Cancer. (datarpgx.com)
- The most common hereditary cancer syndromes in women include hereditary breast and ovarian cancer syndrome, Lynch syndrome, Li-Fraumeni syndrome, Cowden syndrome, Peutz-Jeghers syndrome, and hereditary diffuse gastric cancer. (clinicalomics.com)
- Members of hereditary breast and ovarian cancer (HBOC) families often express concern during genetic counseling about the impact of BRCA1/2 testing on close relatives. (rti.org)
- Written with the clinician in mind, the authors cover a broad range of topics, beginning with an overview discussing clinical relevance of hereditary ovarian and hereditary endometrial cancers. (worldcat.org)
- Succeeding sections provide in-depth analyses of Hereditary Breast Ovarian Cancer Syndrome, Lynch Syndrome, and other syndromes with gynecologic cancer components, and genetic risk assessment. (worldcat.org)
- A germline mutation in either the hMSH2 or hMLH1 mismatch repair gene results in the hereditary nonpolyposis colorectal cancer (HNPCC), or Lynch, syndrome. (annals.org)
- Lynch syndrome , also called Hereditary Non-polyposis Colorectal Cancer (HNPCC) syndrome, is a hereditary cancer syndrome that increases a person's risk of developing several different types of cancer, including endometrial (uterine) and colorectal cancer. (myriad.com)
- Unfortunately, in the case of colorectal cancer, with the exception of familial multiple adenomatous polyposis coli (FPC), the importance of genetics has been severely neglected. (springer.com)
- 1984. Hereditary colorectal cancer review: colonic polyposis and nonpolyposis colonic cancer (Lynch syndrome I and II). (springer.com)
- 1985. Hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II): a common genotype linked to oncogenes? (springer.com)
- An accurate algorithm is essential for effective molecular diagnosis of hereditary colorectal cancer (CRC). (aacrjournals.org)
- The authors thank Patrice Watson, Creighton International Hereditary Colorectal Cancer Registry, for providing data essential to the analysis. (annals.org)
- The National Cancer Institute has published consensus guidelines for universal screening for hereditary nonpolyposis colorectal cancer (HNPCC) in patients with newly diagnosed colorectal cancer. (annals.org)
- National colorectal cancer registry data, the Creighton International Hereditary Colorectal Cancer Registry, Medicare claims records, and published literature. (annals.org)
- In the second part of the review the authors discuss the genetic background of sporadic and IBD associated colorectal cancers as well as the role of genetics in the diagnosis, prognosis and prediction of therapy. (elsevier.com)
- The study of HNPCC has provided an example of the powerful interplay between molecular genetics and clinical care. (annals.org)
- Hereditary nonpolyposis colon cancer (HNPCC) is a form of inherited colon cancer which usually presents with a few to less than 50 polyps. (uconn.edu)
- Lynch Syndrome is also called Hereditary Non Polyposis Colon Cancer (HNPCC). (datarpgx.com)
- Lynch syndrome, also called hereditary nonpolyposis colon cancer (HNPCC), is an autosomal dominant inherited cancer predisposition syndrome characterized by predisposition to develop several cancers at an early age and high penetrance with mutation carriers having a significantly increased lifetime risk of developing colorectal cancer (CRC) and other forms of cancer ( 1 - 3 ). (aacrjournals.org)
- For local samples, please call the Center for Human Genetics Laboratory ( 216-983-1134 ) to arrange for sample pick-up. (uhhospitals.org)
- 6 Department of Medicine, Division of Translational Medicine and Human Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania. (aacrjournals.org)
- and Department of Human Genetics (S.Z.), Hussman Institute for Human Genomics, University of Miami, FL. (neurology.org)
- Journal of Human Genetics. (nii.ac.jp)
- Even if modern Human Genetics has made large steps forward in the characterization of human hereditary disorders, the underlying developmental processes can only be investigated in model organisms. (ehu.es)
- Tamm is a board member of the Estonian Society of Human Genetics (Eesti Inimesegeneetika Ühing) and the Estonian Association of Gerontology and Geriatrics (Eesti Gerontoloogia ja Geriaatria Assotsiatsioon), and Chair of the Scientific Program Committee of the Annual International Gene Forum conference organized by the Estonian Genome Foundation. (wikipedia.org)
- Tamm has authored or co-authored various papers on subjects related to human genetics and gerontology, including the following: Milek, M. (wikipedia.org)
- Klein, C.J. & Dyck, P. Hereditary sensory and autonomic neuropathies (HSAN): clinical features pathologic classification, and molecular genetics. (nature.com)
- and Department of Molecular Genetics (P.N.R.), The University of Toronto, Canada. (neurology.org)
- Combining the increasing need to involve and empower patients to make decisions about their care with the increasing clinical use of molecular insights to explain and also to predict the courses of disease processes sets the scene for much of our work at the interface between community-based services, information technology and molecular genetics. (ucl.ac.uk)
- We emphasized that because of limitations in the technology, failure to detect a mutation in a family does not rule out hereditary cancer. (uconn.edu)
- Another example of hereditary cancer happens when an individual inherits a mutation in the p53 gene. (beaumont.org)
- Hereditary diffuse gastric cancer (HDGC) due to germline mutation of CDH1 was first described in 1998. (insight-group.org)
- Previously identified hereditary cancer gene mutation in the family. (datarpgx.com)
- If ScreenGene TM confirms the presence of any gene mutation associated with Hereditary Cancer risk, several cancer prevention options may become feasible. (datarpgx.com)
- Ambry Genetics and its collaborators at HonorHealth Research Institute (Scottsdale, AZ), Beth Israel Deaconess Medical Center (Boston, MA), and University of Pittsburgh (Pittsburgh, PA), announced a prospective multi-site research study aimed to determine mutation prevalence, as well as psychological assessment and long-term follow up for treatment and care for pancreatic cancer patients with a hereditary predisposition to the disease . (seenamagowitzfoundation.org)
- Molecular diagnosis of hereditary fructose intolerance: Founder mutation in a community from India. (degruyter.com)
- Mutation in HSF4 is associated with hereditary cataract in the Australian Shepherd. (pawprintgenetics.com)
- In the meantime, another major step in the history of genetics was taken just two years after De Vries outlined his mutation theory. (encyclopedia.com)
- Von Hippel-Lindau disease (vHL) is a hereditary tumor predisposition syndrome that places affected individuals at risk for multiple tumors, which are predominantly benign and generally occur in the central nervous system or abdomen. (aacrjournals.org)
- This brings us to the question: 'What can genetics do in cancer apart from telling the hereditary predisposition and vulnerability to cancer? (manoramaonline.com)
- We specialize in the assessment of children, adults, and families with familial or hereditary forms of cancer predisposition. (cheo.on.ca)
- Hereditary Hemochromatosis (HH) is an autosomal recessive predisposition to absorb excess iron from the diet. (geneticseducation.ca)
- Ambry Genetics Research Highlights Need for Expanded Genetic Testing Payer Coverage for Patients At-Risk for Hereditary Breast and Ovar. (bio-medicine.org)
- On the patient level, the impact of these discrepancies is serious," said Rob Guigley, vice president of market access at Ambry Genetics. (bio-medicine.org)
- Ambry Genetics is a leader in clinical diagnostic and software solutions, combining both to offer comprehensive and high-quality genetic testing. (bio-medicine.org)
- As part of the Konica Minolta family, Ambry Genetics is responsibly applying new technologies to the molecular diagnostics market to bring about precision medicine. (bio-medicine.org)
- With over 20 years of experience, Ambry Genetics has longstanding expertise in clinical genetic testing. (bio-medicine.org)
- For more information about Ambry Genetics, visit http://www.ambrygen.com . (bio-medicine.org)
- Ambry Genetics engages in ongoing research, both internally and with collaborators. (seenamagowitzfoundation.org)
- Caris Life Sciences has announced it will begin offering Ambry Genetics' 67- gene CancerNext Expanded panel to evaluate hereditary risks for cancer. (clinicalomics.com)
- By partnering with Ambry Genetics to better inform patient care, we are able to provide clinicians a greater ability to learn about a cancer's molecular composition. (clinicalomics.com)
- The study is designed to assess the efficacy and safety of 30 mg subcutaneous ecallantide in the treatment of acute attacks of hereditary angioedema. (clinicaltrials.gov)
- These data are intended to support the marketing authorization of ecallantide in the treatment of acute attacks of hereditary angioedema. (clinicaltrials.gov)
- The other genes associated with hereditary spherocytosis each account for a smaller percentage of cases of this condition. (medlineplus.gov)
- Understanding the genetics of hereditary hemochromatosis allow us to understand the genes associated with this disorder, as well as its inheritance pattern. (brighthub.com)
- The purpose of this protocol is twofold: 1) to continue identification of genes associated with hereditary gingival fibromatosis (HGF), a type of gingival overgrowth 2) to investigate the genes up-regulated by medications that induce gingival overgrowth. (clinicaltrials.gov)
- Hereditary hemochromatosis is a genetic condition. (23andme.com)
- Hereditary hemochromatosis is a genetic disorder and is quite common in the United States. (brighthub.com)
- Hereditary hemochromatosis is a genetic condition characterized by excessive iron absorption and storage in the body. (uhhospitals.org)
- Hereditary motor and sensory neuropathies (HMSN) have been previously classified on the basis of clinical course, mode of inheritance and neuropathological findings . (springer.com)
- Dyck PJ, Chance PF, Lebo RV, Carney JA (1993) Hereditary motor and sensory neuropathies. (springer.com)
- The classification of demyelinating hereditary motor and sensory neuropathies (HMSN) is still a matter of debate. (neurology.org)
- Hereditary hemochromatosis is one of the most common genetic diseases in the U.S. It is estimated that about 1 million people in the U.S. are affected by hereditary hemochromatosis. (23andme.com)
- About every one in every 240 to 300 Caucasians are affected by hereditary hemochromatosis. (brighthub.com)
- A diagnosis of hereditary hemochromatosis should be considered in all patients with evidence of liver disease or abnormal iron study results. (aafp.org)
- See 'Clinical manifestations and diagnosis of hereditary hemochromatosis' . (uptodate.com)
- See 'Genetics of hereditary hemochromatosis' and 'Clinical manifestations and diagnosis of hereditary hemochromatosis' and 'Screening for hereditary hemochromatosis' and 'Management of patients with hereditary hemochromatosis' . (uptodate.com)
- Many other cancers like Melanoma, Retinoblastoma, Wilm's tumor etc. have been established to have hereditary association. (datarpgx.com)
- According to the National Cancer Institute, about 10% of cancers are hereditary. (clinicalomics.com)
- Hereditary Gynecologic Cancer: Risk, Prevention and Management addresses relevant clinical issues associated with the new field of hereditary gynecologic cancers. (worldcat.org)
- Wright, A. & Dyck, P.J. Hereditary sensory neuropathy with sensorineural deafness and early-onset dementia. (nature.com)
- Hereditary sensory neuropathy with deafness and dementia: a clinical and neuroimaging study. (nature.com)
- The prevalence of the Hereditary Motor and Sensory Neuropathy Type 1A (HMSN 1A or Charcot-Marie-Tooth Neuropathy 1A, CMT1A) alone is estimated to be as high as 1/5000. (nih.gov)
- HNPP is part of the group of hereditary motor and sensory neuropathy (HMSN) disorders and is linked to Charcot-Marie-Tooth disease (CMT). (wikipedia.org)
- Charcot-Marie-Tooth (CMT) disease, also called hereditary motor and sensory neuropathy, is among the most common neurogenetic diseases and is characterized by progressive length-dependent weakness and sensory loss. (neurology.org)
- Hereditary peripheral neuropathies are the most common monogenetically inherited diseases of the nervous system. (nih.gov)
- The Cardiovascular Genetics Center at UPMC Heart and Vascular Institute specializes in testing and caring for people with inherited diseases of the heart and blood vessels. (upmc.com)
- Hereditary hemochromatosis is an autosomal recessive disorder that disrupts the body's regulation of iron. (aafp.org)
- Hereditary hemochromatosis is an autosomal recessive disorder in which iron regulation is disrupted, resulting in the toxic accumulation of iron in vital organs and the development of cirrhosis, bone and joint disease, diabetes mellitus, and heart disease. (aafp.org)
- Hereditary spastic paraplegias include autosomal dominant, autosomal recessive, and X-linked forms. (uptodate.com)
- Many individuals with hereditary pancreatitis also develop abnormal calcium deposits in the pancreas (pancreatic calcifications) by early adulthood. (medlineplus.gov)
- Complications from pancreatic cancer and type 1 diabetes mellitus are the most common causes of death in individuals with hereditary pancreatitis, although individuals with this condition are thought to have a normal life expectancy. (medlineplus.gov)
- We are realizing more and more that genetics plays an important role in the development of cancer, including pancreatic cancer. (seenamagowitzfoundation.org)
- Our research team at Ambry is honored to be working alongside such accomplished investigators at the participating clinical sites to improve understanding of hereditary pancreatic cancer," said Virginia Speare, PhD, LCGC, sponsor investigator and Clinical Collaborations Specialist at Ambry. (seenamagowitzfoundation.org)
- I participate in research focused on developing and implementing digital tools to be applied to clinical genetics. (mskcc.org)
- Being able to simultaneously conduct comprehensive tumor genomic testing and multi-gene germline sequencing is invaluable, especially for sick patients at the beginning of their cancer journey," said Michael J. Hall, M.D., and chair, Department of Clinical Genetics at Fox Chase Cancer Center. (clinicalomics.com)
- SALT LAKE CITY, Oct. 21, 2015 (GLOBE NEWSWIRE) -- Myriad Genetics , Inc. (NASDAQ:MYGN), a leader in molecular diagnostics and personalized medicine, today announced that new data on its myRisk™ Hereditary Cancer molecular diagnostic test will be featured in five presentations at the National Society of Genetic Counselors (NSGC) Annual Conference being held Oct. 21 to 24, 2015 in Pittsburgh, Pa. (cnbc.com)
- Myriad Genetics Inc., is a leading personalized medicine company dedicated to being a trusted advisor transforming patient lives worldwide with pioneering molecular diagnostics. (cnbc.com)
- and the Company's strategic directives under the caption "About Myriad Genetics. (cnbc.com)
- Knowledge of cancer genetics is rapidly improving our understanding of cancer biology, helping to identify at-risk individuals, furthering the ability to characterize malignancies, establishing treatment tailored to the molecular fingerprint of the disease, and leading to the development of new therapeutic modalities. (cancer.gov)
- Is Parkinson's disease hereditary? (medicalnewstoday.com)
- Is Parkinson's disease passed on through genetics? (medicalnewstoday.com)
- In this article, learn about how genetics affect the development of Parkinson's disease, and when to talk to a doctor about family history and genetic testing. (medicalnewstoday.com)
- Knowing the genetics of hereditary hemochromatosis allows both doctors and patients to better understand this disease, therefore, they can better treat it. (brighthub.com)
- Leber hereditary optic neuropathy (LHON) is a mitochondrial genetic disease that preferentially causes blindness in young adult males, affecting about 1 in 25 000 of the British population. (bmj.com)
- Hereditary neuropathy with liability to pressure palsy is an autosomal dominant genetic disease (which means one parent must be affected ). (wikipedia.org)
- Universal screening for hereditary hemochromatosis is not recommended, but testing should be performed in first-degree relatives of patients with classical HFE -related hemochromatosis, those with evidence of active liver disease, and patients with abnormal iron study results. (aafp.org)
- A regional and national leader in cardiovascular genetics, we offer comprehensive tests for heart disease, access to cutting-edge diagnostics, and advanced treatments for all forms of inheritable heart and vascular diseases. (upmc.com)
- Diabetes, a very common metabolic disease, often sprouts question like is diabetes hereditary by genetic factor. (diabetestic.com)
- Also, to conclude the answer of is diabetes hereditary disease, if the family had a long history of the members contacting Diabetes, the risk for the next offspring would be relatively high. (diabetestic.com)
- Here's a look at how genetics may influence each disease. (everydayhealth.com)
- The Cardiovascular Genetics Clinic is the only clinic in the region providing coordinated screening, diagnosis, management, and genetic counseling for genetic cardiac disease in children. (childrensmercy.org)
- Hereditary cataracts (Australian shepherd type) is an inherited eye disease affecting dogs. (pawprintgenetics.com)
- Hereditary cataracts (Australian shepherd type) is inherited in an Autosomal Dominant manner in dogs meaning that dogs only need to inherit one copy of the mutated gene to be at-risk for the disease. (pawprintgenetics.com)
- There are four forms of hereditary spherocytosis, which are distinguished by the severity of signs and symptoms. (medlineplus.gov)
- The signs and symptoms of moderate hereditary spherocytosis usually appear in childhood. (medlineplus.gov)
- in circulation and the abundance of cells in the spleen are responsible for the signs and symptoms of hereditary spherocytosis. (medlineplus.gov)
- Symptoms of hereditary hemochromatosis are nonspecific and typically absent in the early stages. (aafp.org)
- This is a next generation sequencing (NGS) test appropriate for individuals with clinical signs and symptoms, suspicion of, or family history of Hereditary Neuralgic Amyotrophy. (fulgentgenetics.com)
- There are no specific clinical symptoms or signs directly attributable to acquired hypercoagulability or hereditary thrombophilic disorders. (medscape.com)
- In a Basic Science-in-Focus session Dr. Patrick Gallagher (Yale University School of Medicine, New Haven, USA) focused on the inheritance, presentation and diagnosis of hereditary spherocytosis (HS). (ehaweb.org)
- The gene is a unit of inheritance of our DNA that determines our characteristics including physical, behavioural and clinical and the term 'hereditary' means passed from the genes of a parent to the child. (manoramaonline.com)
- Most forms of hereditary amyloidosis are inherited by autosomal dominant inheritance. (amyloidosis.org.uk)
- One way to do this is to study the biochemical foundations of genetics as a subject in itself, as is done in Genetics, and then to investigate the impact of genetic characteristics on inheritance in a separate context, as we do here. (encyclopedia.com)
- This is a classic example of how genetic testing has helped in treatment planning and management of the cancer and is an example of cancer genetics beyond heredity. (manoramaonline.com)
- As discussed at the beginning of the essay on genetics, the subjects of genetics and heredity are inseparable from each other, but there are so many details that it is extremely difficult to wrap one's mind around the entire concept. (encyclopedia.com)