Pedigree chart: A pedigree chart is a diagram that shows the occurrence and appearance or phenotypes of a particular gene or organism and its ancestors from one generation to the next,pedigree chart Genealogy Glossary - About.com, a part of The New York Times Company.Iridogoniodysgenesis, dominant type: Iridogoniodysgenesis, dominant type (type 1, IRID1) refers to a spectrum of diseases characterized by malformations of the irido-corneal angle of the anterior chamber of the eye. Iridogoniodysgenesis is the result of abnormal migration or terminal induction of neural crest cells.Silent mutation: Silent mutations are mutations in DNA that do not significantly alter the phenotype of the organism in which they occur. Silent mutations can occur in non-coding regions (outside of genes or within introns), or they may occur within exons.Phenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.Genetic linkage: Genetic linkage is the tendency of alleles that are located close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction. Genes whose loci are nearer to each other are less likely to be separated onto different chromatids during chromosomal crossover, and are therefore said to be genetically linked.Infinite alleles model: The infinite alleles model is a mathematical model for calculating genetic mutations. The Japanese geneticist Motoo Kimura and American geneticist James F.Germline STAT 1 Mutation: Interferons induce the formation of two transcriptional activators: gamma-activating factor (GAF) and interferon-stimulated gamma factor 3 (ISGF3). A natural heterozygous germline STAT1 mutation associated with susceptibility to mycobacterial but not viral disease was found in two unrelated patients with unexplained mycobacterial disease.Hirschsprung's diseaseChromosome regionsOpsismodysplasiaJewish Community Council of Victoria: The Jewish Community Council of Victoria Inc (JCCV) is the peak representative body for Victorian Jewry, representing nearly 60 Jewish community organisations and over 52,000 Victorian Jews. The JCCV’s mission is to represent the Victorian Jewish community, the largest Jewish community in Australia, on all matters that affect its status, welfare and interests.Genetic heterogeneity: Genetic heterogeneity is a phenomenon in which a single phenotype or genetic disorder may be caused by any one of a multiple number of alleles or non-allele (locus) mutations.Turnpenny and Ellard, Emery's Elements of Medical Genetics, 13th Edition.Hereditary Disease Foundation: The Hereditary Disease Foundation (HDF) aims to cure genetic disorders by supporting basic biomedical research.Torsion dystoniaMissense mutation: In genetics, a missense mutation (a type of nonsynonymous substitution) is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. Another type of nonsynonymous substitution is a nonsense mutation in which a codon is changed to a premature stop codon that results in truncation of the resulting protein.Malformative syndrome: A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).DystoniaTafamidisNational Society of Film Critics Awards 1977: 12th NSFC AwardsGenetic variation: right|thumbPseudoangiomatous stromal hyperplasia: In breast pathology, pseudoangiomatous stromal hyperplasia, commonly abbreviated PASH, is an overgrowth of myofibroblastic cells and has an appearance similar to fibroadenomatoid changes.Juvenile hemochromatosisWGAViewer: WGAViewer is a bioinformatics software tool which is designed to visualize, annotate, and help interpret the results generated from a genome wide association study (GWAS). Alongside the P values of association, WGAViewer allows a researcher to visualize and consider other supporting evidence, such as the genomic context of the SNP, linkage disequilibrium (LD) with ungenotyped SNPs, gene expression database, and the evidence from other GWAS projects, when determining the potential importance of an individual SNP.SyndactylyEpicanthic fold: Epicanthic fold (), epicanthal fold, epicanthus, or simply eye fold are names for a skin fold of the upper eyelid, covering the inner corner (medial canthus) of the eye. Other names for this trait include plica palpebronasalis and palpebronasal fold..Decoding methods: In coding theory, decoding is the process of translating received messages into codewords of a given code. There have been many common methods of mapping messages to codewords.Frontonasal dysplasia: Frontonasal dysplasia (FND) (also known as median cleft face syndrome, frontonasal dysostosis, frontonasal malformation or Tessier cleft number 0/14) is a congenital malformation of the midface.Lenyoun EH, Lampert JA, Xipoleas GD, Taub PJ (2011) Salvage of calvarial bone graft using acellular dermal matrix in nasal reconstruction and secondary rhinoplasty for frontonasal dysplasia.Haplogroup L0 (mtDNA)RetinoblastomaDavid Rimoin: David Lawrence Rimoin (November 9, 1936 – May 27, 2012) was a Canadian American geneticist. He was especially noted for his research into the genetics of skeletal dysplasia (dwarfism), inheritable diseases such as Tay–Sachs disease, and diabetes.Lysidine (chemical)BMPR1B: Bone morphogenetic protein receptor type-1B also known as CDw293 (cluster of differentiation w293) is a protein that in humans is encoded by the BMPR1B gene.Transthyretin: Transthyretin (TTR) is a serum and cerebrospinal fluid carrier of the thyroid hormone thyroxine (T4) and retinol-binding protein bound to retinol. This is how transthyretin gained its name, transports thyroxine and retinol.Palatal myoclonusUniparental inheritance: Uniparental inheritance is a non-mendelian form of inheritance that consists of the transmission of genotypes from one parental type to all progeny. That is, all the genes in offspring will originate from only the mother or only the father.Breast cancer classification: Breast cancer classification divides breast cancer into categories according to different schemes, each based on different criteria and serving a different purpose. The major categories are the histopathological type, the grade of the tumor, the stage of the tumor, and the expression of proteins and genes.Hagemoser–Weinstein–Bresnick syndrome: Hagemoser–Weinstein–Bresnick syndrome is an autosomal dominant genetic disorder first described by Hagemoser et al. in 1989.Alternative splicing: Alternative splicing is a regulated process during gene expression that results in a single gene coding for multiple proteins. In this process, particular exons of a gene may be included within or excluded from the final, processed messenger RNA (mRNA) produced from that gene.Yoshiyuki TominoNeuropathy, ataxia, and retinitis pigmentosaMicrosatellite: A microsatellite is a tract of repetitive DNA in which certain DNA motifs (ranging in length from 2–5 base pairs) are repeated, typically 5-50 times. Microsatellites occur at thousands of locations in the human genome and they are notable for their high mutation rate and high diversity in the population.Point mutationOvarian Cancer National Alliance: The Ovarian Cancer National Alliance is an advocacy organization for women with ovarian cancer in the United States. To advance the interests of women with ovarian cancer, the organization advocates at a national level for increases in research funding for the development of an early detection test, improved health care practices, and life-saving treatment protocols.
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