about
Mapping the functional domains of BRCA1. Interaction of the ring finger domains of BRCA1 and BARD1Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)Identification of Id4 as a regulator of BRCA1 expression by using a ribozyme-library-based inverse genomics approachMutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise.Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancyMutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humansBRCA1 is secreted and exhibits properties of a graninComplete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1Structure of a BRCA1-BARD1 heterodimeric RING-RING complexNovel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignanciesThe search for BRCA1Human genetics. Sexual orientation and the XLinkage of early-onset familial breast cancer to chromosome 17q21Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish familiesInherited Mutations in Women With Ovarian CarcinomaLoss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infectionGenomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.Genomic views of human history.Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic featuresLinkage of cystic fibrosis to two tightly linked DNA markers: joint report from a collaborative study.Polymorphisms of mitochondrially encoded proteinsBRCA2 in American families with four or more cases of breast or ovarian cancer: recurrent and novel mutations, variable expression, penetrance, and the possibility of families whose cancer is not attributable to BRCA1 or BRCA2.Heritability of longitudinal changes in coronary-heart-disease risk factors in women twins.Genomic structure of chromosome 17 deletions in BRCA1-associated ovarian cancers.Screening for abnormal hemoglobins in the middle east: new data on hemoglobin S and the presence of hemoglobin C in Saudi Arabia.MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform.FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction.Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.CCR5del32 in perinatal HIV-1 infection.PCR detection of an MboI polymorphism in the ERBB2 (HER2; NEU) gene on chromosome 17q11.2-q12.Inherited breast and ovarian cancer.Eye color and hypertension.Genetic epidemiology of breast cancer and associated cancers in high-risk families. I. Segregation analysis.Allele increasing susceptibility to human breast cancer may be linked to the glutamate-pyruvate transaminase locus.Mutation analysis of the BRCA1 gene in ovarian cancers.Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.Population genetics of BRCA1 and BRCA2.Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial.Genetic influences on changes in body mass index: a longitudinal analysis of women twins.
P50
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P50
description
Forscher
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chercheur
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investigador
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researcher
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ricercatore
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研究者
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name
King MC
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King MC
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King MC
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Mary-Claire King
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King MC
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King MC
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King MC
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Mary-Claire King
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King MC
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King MC
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King MC
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King MC
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Mary-Claire King
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P31
P496
0000-0001-9426-1743