Germline mutations. Medical search. Frequent questions

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Anatomy8

Germ Cells Cell Line Micronucleus, Germline Stem Cells Cells, Cultured Ovary Chromosomes, Human, Pair 9 X Chromosome

Organisms10

Caenorhabditis elegans Drosophila melanogaster Drosophila Animals, Genetically Modified Escherichia coli Mice, Mutant Strains Mice, Transgenic Saccharomyces cerevisiae Mice, Inbred C57BL Mice, Knockout

Diseases70

Neoplastic Syndromes, Hereditary Colorectal Neoplasms, Hereditary Nonpolyposis Paraganglioma Hamartoma Syndrome, Multiple Genetic Predisposition to Disease Adenomatous Polyposis Coli Li-Fraumeni Syndrome Peutz-Jeghers Syndrome Multiple Endocrine Neoplasia Type 2a Intestinal Polyposis von Hippel-Lindau Disease Pheochromocytoma Paraganglioma, Extra-Adrenal Noonan Syndrome Costello Syndrome Syndrome Microsatellite Instability Leiomyomatosis Breast Neoplasms Carcinoma, Medullary Ovarian Neoplasms Adrenal Gland Neoplasms Multiple Endocrine Neoplasia Type 1 Colorectal Neoplasms Neoplasms, Multiple Primary Adenoma Abnormalities, Multiple Melanoma Birt-Hogg-Dube Syndrome Retinoblastoma Hemangioblastoma Thyroid Neoplasms Retinal Neoplasms Facies LEOPARD Syndrome Skin Neoplasms Sebaceous Gland Neoplasms Hirschsprung Disease Endometrial Neoplasms Craniofacial Abnormalities Ectodermal Dysplasia Growth Hormone-Secreting Pituitary Adenoma Intestinal Polyps Multiple Endocrine Neoplasia Type 2b Neurofibromatosis 1 Skin Abnormalities Hereditary Breast and Ovarian Cancer Syndrome Kidney Neoplasms Neoplasms Abdominal Neoplasms Breast Neoplasms, Male Neurofibromatoses Dysplastic Nevus Syndrome Adenocarcinoma Stomach Neoplasms Cell Transformation, Neoplastic Carotid Body Tumor Carcinoma Pancreatic Neoplasms Multiple Endocrine Neoplasia Prolactinoma Adrenal Cortex Neoplasms Carcinoma, Renal Cell Gastrointestinal Neoplasms Rhabdoid Tumor Genomic Instability Polyps Polycythemia Gastrointestinal Stromal Tumors Disorders of Sex Development

Chemicals and Drugs57

MutS Homolog 2 Protein BRCA2 Protein Proto-Oncogene Proteins c-ret BRCA1 Protein Succinate Dehydrogenase DNA, Neoplasm Nuclear Proteins Adaptor Proteins, Signal Transducing Fumarate Hydratase Codon, Nonsense DNA-Binding Proteins Neoplasm Proteins Proto-Oncogene Proteins Codon Tumor Suppressor Proteins Drosophila Proteins Transcription Factors DNA Primers Carrier Proteins PTEN Phosphohydrolase Von Hippel-Lindau Tumor Suppressor Protein DNA Proto-Oncogene Proteins B-raf DNA Repair Enzymes Tumor Suppressor Protein p53 Protein-Serine-Threonine Kinases Caenorhabditis elegans Proteins Genetic Markers Adenomatous Polyposis Coli Protein Membrane Proteins Mutant Proteins Cyclin-Dependent Kinase Inhibitor p16 DNA Glycosylases RNA Splice Sites Phosphoric Monoester Hydrolases RNA, Messenger Receptor Protein-Tyrosine Kinases Electron Transport Complex II Proteins Immunoglobulin Variable Region ras Proteins Cadherins Adenosine Triphosphatases Californium DNA Transposable Elements Immunoglobulin Heavy Chains Tumor Suppressor Protein p14ARF Receptors, Thyrotropin Intracellular Signaling Peptides and Proteins Bone Morphogenetic Protein Receptors, Type I Dexfenfluramine Ubiquitin-Protein Ligases DNA, Mitochondrial Bacterial Proteins Checkpoint Kinase 2 Smad4 Protein Bone Morphogenetic Protein Receptors, Type II

Analytical, Diagnostic and Therapeutic Techniques and Equipment28

Pedigree DNA Mutational Analysis Genetic Testing Polymerase Chain Reaction Sequence Analysis, DNA Amino Acid Substitution Heterozygote Detection Mutagenesis, Site-Directed Models, Genetic Immunohistochemistry Models, Molecular Chromosome Mapping Mutagenesis, Insertional Case-Control Studies Facies Cloning, Molecular Sequence Alignment Cohort Studies Genetic Association Studies Genetic Complementation Test Transfection Reverse Transcriptase Polymerase Chain Reaction Heteroduplex Analysis Crosses, Genetic Blotting, Southern Gene Targeting Models, Biological Risk Factors

Psychiatry and Psychology2

Family Disorders of Sex Development

Phenomena and Processes84

Germ-Line Mutation Mutation, Missense Point Mutation Mutation Frameshift Mutation Genes, BRCA1 Exons Heterozygote Genetic Predisposition to Disease Genes, BRCA2 Polymorphism, Single-Stranded Conformational Base Sequence Mutation Rate Alleles DNA Mismatch Repair Phenotype Loss of Heterozygosity Genes, APC Microsatellite Repeats Penetrance Genotype Codon, Nonsense Amino Acid Substitution Sequence Deletion Founder Effect Amino Acid Sequence Microsatellite Instability Base Pair Mismatch Genes, p53 Codon Homozygote Mosaicism Mutagenesis Gene Deletion Gene Frequency Genes, p16 Polymorphism, Genetic Genes, Recessive Genes, Dominant Exome DNA Repair Genes, Tumor Suppressor Oogenesis Protein Structure, Tertiary Genetic Linkage Genetic Variation Introns Promoter Regions, Genetic Polymorphism, Single Nucleotide Sequence Homology, Amino Acid Signal Transduction Genetic Markers Mutagenesis, Insertional Genes, Neurofibromatosis 1 Consanguinity RNA Splice Sites DNA Methylation Suppression, Genetic Transcription, Genetic Genetic Heterogeneity Recombination, Genetic Binding Sites Immunoglobulin Variable Region Heredity Transfection Haploinsufficiency Protein Binding Gene Expression Regulation, Neoplastic Genes, Lethal Gene Expression Regulation, Developmental Gene Rearrangement Haplotypes Gene Silencing Genes, Immunoglobulin Genes, X-Linked DNA Transposable Elements Gene Expression Regulation Plasmids Genomic Instability Chromosomes, Human, Pair 9 Cell Differentiation Minisatellite Repeats Genes X Chromosome

Disciplines and Occupations2

Immunohistochemistry Genetic Counseling

Anthropology, Education, Sociology and Social Phenomena1

Information Science3

Base Sequence Molecular Sequence Data Amino Acid Sequence

Named Groups2

Jews Asian Continental Ancestry Group

Health Care7

Genetic Testing Age of Onset Family Health Genetic Counseling Case-Control Studies Cohort Studies Risk Factors

Geographicals2

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Disciplines and Occupations Anthropology, Education, Sociology and Social Phenomena Information Science Named Groups Health Care

Germ-Line Mutation Mutation, Missense Point Mutation Mutation Pedigree DNA Mutational Analysis Neoplastic Syndromes, Hereditary Frameshift Mutation Colorectal Neoplasms, Hereditary Nonpolyposis Genes, BRCA1 MutS Homolog 2 Protein Paraganglioma Exons Genetic Testing BRCA2 Protein Heterozygote Hamartoma Syndrome, Multiple Genetic Predisposition to Disease Adenomatous Polyposis Coli Genes, BRCA2 Germ Cells Polymorphism, Single-Stranded Conformational Base Sequence Li-Fraumeni Syndrome Mutation Rate Alleles Polymerase Chain Reaction DNA Mismatch Repair Molecular Sequence Data Phenotype Loss of Heterozygosity Peutz-Jeghers Syndrome Genes, APC Age of Onset Proto-Oncogene Proteins c-ret Family Health Microsatellite Repeats BRCA1 Protein Succinate Dehydrogenase Sequence Analysis, DNA Penetrance Multiple Endocrine Neoplasia Type 2a Genotype DNA, Neoplasm Nuclear Proteins Intestinal Polyposis von Hippel-Lindau Disease Adaptor Proteins, Signal Transducing Pheochromocytoma Fumarate Hydratase Paraganglioma, Extra-Adrenal Codon, Nonsense Amino Acid Substitution DNA-Binding Proteins Sequence Deletion Noonan Syndrome Founder Effect Costello Syndrome Syndrome Amino Acid Sequence Neoplasm Proteins Microsatellite Instability Leiomyomatosis Breast Neoplasms Proto-Oncogene Proteins Carcinoma, Medullary Base Pair Mismatch Genes, p53 Ovarian Neoplasms Adrenal Gland Neoplasms Codon Tumor Suppressor Proteins Homozygote Jews Multiple Endocrine Neoplasia Type 1 Heterozygote Detection Colorectal Neoplasms Drosophila Proteins Transcription Factors DNA Primers Mosaicism Mutagenesis Carrier Proteins PTEN Phosphohydrolase Gene Deletion Neoplasms, Multiple Primary Gene Frequency Genes, p16 Polymorphism, Genetic Von Hippel-Lindau Tumor Suppressor Protein Genes, Recessive Genes, Dominant Exome Caenorhabditis elegans DNA Repair Mutagenesis, Site-Directed DNA Adenoma Family Genes, Tumor Suppressor

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