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American journal of human genetics, ISSN 0002-9297, 06/2013, Volume 92, Issue 6, pp. 974 - 980
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Kidney Neoplasms - genetics | Genetic Association Studies | Carcinoma, Renal Cell - pathology | Humans | Middle Aged | Carcinoma, Renal Cell - genetics | Male | Mutation, Missense | Ubiquitin Thiolesterase - genetics | Sequence Analysis, DNA | Exome | Pedigree | Base Sequence | Kidney Neoplasms - enzymology | Tumor Suppressor Proteins - genetics | Germ-Line Mutation | Adult | Carcinoma, Renal Cell - enzymology | Female | Kidney Neoplasms - pathology | Polymorphism, Single Nucleotide | Genetics | Mutation | Risk assessment | Melanoma | Tumors | Index Medicus | Report
Journal Article
Clinical cancer research, ISSN 1078-0432, 09/2012, Volume 18, Issue 18, pp. 4903 - 4909
Life Sciences & Biomedicine | Oncology | Science & Technology | Biological and medical sciences | Medical sciences | Antineoplastic agents | Pharmacology. Drug treatments | Alternative Splicing | Exons | Introns | Humans | Breast Neoplasms - therapy | Ovarian Neoplasms - genetics | Breast Neoplasms - genetics | Pedigree | Cell Line, Tumor | Genes, BRCA2 | Ovarian Neoplasms - therapy | Female | Genes, BRCA1 | Mutation | Index Medicus | Breast Neoplasms | Life Sciences | Ovarian Neoplasms | Cancer
Journal Article
American journal of human genetics, ISSN 0002-9297, 2007, Volume 81, Issue 6, pp. 1186 - 1200
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Gynecology. Andrology. Obstetrics | Mammary gland diseases | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Tumors | Alternative Splicing | Rad51 Recombinase - genetics | Humans | Middle Aged | DNA Repair - genetics | DNA Primers | Reverse Transcriptase Polymerase Chain Reaction | Breast Neoplasms - prevention & control | Genetic Variation | BRCA1 Protein - genetics | Homozygote | Breast Neoplasms - genetics | Adolescent | Adult | Family | Female | Heterozygote | Polymorphism, Single Nucleotide | Mutation | BRCA2 Protein - genetics | Polymerase chain reaction | Usage | Breast cancer | Genetic aspects | Research | Risk factors | Mutation (Biology) | Genotype & phenotype | Gene expression | Deoxyribonucleic acid--DNA | Polymorphism | Index Medicus
Journal Article
Human mutation, ISSN 1059-7794, 01/2008, Volume 29, Issue 1, pp. 65 - 73
CHK2 | BRCA1 | breast cancer predisposition | truncated protein | nonsense‐mediated mRNA decay | p53 | Truncated protein | Breast cancer predisposition | Nonsense-mediated mRNA decay | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Tumor Suppressor Protein p53 - biosynthesis | Humans | Protein-Serine-Threonine Kinases - genetics | RNA Stability - drug effects | RNA, Messenger - metabolism | BRCA1 Protein - biosynthesis | RNA Stability - genetics | Tumor Suppressor Protein p53 - genetics | Protein-Serine-Threonine Kinases - biosynthesis | BRCA1 Protein - genetics | Androstadienes - pharmacology | Alleles | Codon, Nonsense - metabolism | Cell Line, Tumor | Checkpoint Kinase 2 | HeLa Cells | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 04/2008, Volume 82, Issue 4, pp. 937 - 948
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Gynecology. Andrology. Obstetrics | Mammary gland diseases | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Tumors | Genetic Predisposition to Disease - genetics | Humans | Middle Aged | Risk | Breast Neoplasms - genetics | Genes, BRCA2 | Germ-Line Mutation | Adult | Female | Aged | MAP Kinase Kinase Kinase 1 - genetics | Polymorphism, Single Nucleotide | Genes, BRCA1 | Receptor, Fibroblast Growth Factor, Type 2 - genetics | Genotype & phenotype | Genetics | Breast cancer | Mutation | Index Medicus
Journal Article
JAMA : the journal of the American Medical Association, ISSN 0098-7484, 04/2015, Volume 313, Issue 13, pp. 1347 - 1361
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Genetic Predisposition to Disease | Humans | Middle Aged | Risk Factors | Nucleotides | Ovarian Neoplasms - genetics | Breast Neoplasms - genetics | Age of Onset | Genes, BRCA2 | Adult | Female | Heterozygote | Genes, BRCA1 | Mutation | Women | Usage | BRCA mutations | Breast cancer | Health aspects | Risk factors | Ovarian cancer | Disease prevention | Womens health | Index Medicus | Abridged Index Medicus | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
Journal Article
JAMA : the journal of the American Medical Association, ISSN 0098-7484, 01/2012, Volume 307, Issue 4, pp. 382 - 389
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Gynecology. Andrology. Obstetrics | Biological and medical sciences | General aspects | Medical sciences | Female genital diseases | Tumors | Ovarian Neoplasms - genetics | Prognosis | Humans | Middle Aged | Survival Analysis | Genes, BRCA2 | Germ-Line Mutation | Adult | Female | Aged | Genes, BRCA1 | Ovarian Neoplasms - mortality | Cancer patients | BRCA mutations | Causes of | Genetic aspects | Research | Health aspects | Ovarian cancer | Survival analysis | Medical research | Mutation | Womens health | Index Medicus | Abridged Index Medicus | Clinical Medicine | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Klinisk medicin | Cancer and Oncology | Cancer och onkologi
Journal Article
Human mutation, ISSN 1059-7794, 08/2012, Volume 33, Issue 8, pp. 1228 - 1238
guidelines | BRCA1 | splice prediction | BRCA2 | variants of unknown significance | VUS | Splice prediction | Variants of unknown significance | Guidelines | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | BRCA1 Protein - genetics | Humans | RNA Splicing - genetics | Pathology, Molecular - methods | Exons - genetics | Female | Pathology, Molecular - standards | BRCA2 Protein - genetics | Research | Universities and colleges | Clouds | Neural networks | Oncology, Experimental | Cancer | Index Medicus
Journal Article