相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Recurrent TP53 missense mutation in cancer patients of Arab descent
Aviad Zick et al.
FAMILIAL CANCER (2017)
Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications
Xiaoyu Chen et al.
BIOINFORMATICS (2016)
Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks
Cindy Lee et al.
HUMAN MUTATION (2015)
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers
Gaelle Bougeard et al.
JOURNAL OF CLINICAL ONCOLOGY (2015)
BRCA1 and BRCA2 Mutations in Ethnic Lebanese Arab Women With High Hereditary Risk Breast Cancer
Nagi S. El Saghir et al.
ONCOLOGIST (2015)
Prevalence of the TP53 p.R337H Mutation in Breast Cancer Patients in Brazil
Juliana Giacomazzi et al.
PLOS ONE (2014)
Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia
Amanda B. Spurdle et al.
BREAST CANCER RESEARCH (2014)
Impact of Neonatal Screening and Surveillance for the TP53 R337H Mutation on Early Detection of Childhood Adrenocortical Tumors
Gislaine Custodio et al.
JOURNAL OF CLINICAL ONCOLOGY (2013)
Increased Oxidative Metabolism in the Li-Fraumeni Syndrome
Ping-yuan Wang et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation
Hanan E. Shamseldin et al.
JOURNAL OF MEDICAL GENETICS (2012)
Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon
Nadine Jalkh et al.
HEREDITARY CANCER IN CLINICAL PRACTICE (2012)
Accurate and exact CNV identification from targeted high-throughput sequence data
Alex S. Nord et al.
BMC GENOMICS (2011)
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing
Tom Walsh et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
SLOPE: a quick and accurate method for locating non-SNP structural variation from targeted next-generation sequence data
Haley J. Abel et al.
BIOINFORMATICS (2010)
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
Tom Walsh et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control
Ramunas Janavicius
EPMA JOURNAL (2010)
A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer
Luna Kadouri et al.
BMC CANCER (2007)
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation
V Abkevich et al.
JOURNAL OF MEDICAL GENETICS (2004)
Familial risk factors for breast cancer among Arab women in Israel
M Aghassi-Ippen et al.
EUROPEAN JOURNAL OF CANCER PREVENTION (2002)
Structure of a BRCA1-BARD1 heterodimeric RING-RING complex
PS Brzovic et al.
NATURE STRUCTURAL BIOLOGY (2001)
分享论文
