scholarly article | Q13442814 |
P50 | author | Katherine L Nathanson | Q37369859 |
P2093 | author name string | A M Martin | |
B L Weber | |||
G M Lenoir | |||
M A Unger | |||
S Mazoyer | |||
K Calzone | |||
H A Shih | |||
D Antin-Ozerkis | |||
P2860 | cites work | Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1 | Q24321914 |
High frequency of large intragenic deletions in the Fanconi anemia group A gene | Q24534222 | ||
Genomic sequencing | Q24594942 | ||
Structural alterations of the BCR and ABL genes in Ph1 positive acute leukemias with rearrangements in the BCR gene first intron: further evidence implicating Alu sequences in the chromosome translocation | Q24624693 | ||
Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains | Q26269836 | ||
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium | Q29619206 | ||
The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. The BRCA1 Exon 13 Duplication Screening Group | Q34141842 | ||
BRCA1 and BRCA2 mutation analysis of 208 Ashkenazi Jewish women with ovarian cancer | Q34145544 | ||
The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes | Q34145680 | ||
Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families | Q34321216 | ||
The 5' end of the BRCA1 gene lies within a duplicated region of human chromosome 17q21. | Q34388196 | ||
BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients | Q34444787 | ||
Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families | Q35238493 | ||
An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Breast Cancer Linkage Consortium. | Q35643677 | ||
Screening for BRCA2 mutations in 81 Dutch breast-ovarian cancer families | Q36620818 | ||
Conversion of diploidy to haploidy | Q40897610 | ||
An Alu-mediated 6-kb duplication in the BRCA1 gene: a new founder mutation? | Q43218212 | ||
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene | Q44847024 | ||
Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis | Q71960074 | ||
A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17 | Q73090990 | ||
BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer | Q73328358 | ||
Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family | Q73670657 | ||
An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10 | Q73912443 | ||
A large deletion disrupts the exon 3 transcription activation domain of the BRCA2 gene in a breast/ovarian cancer family | Q74427899 | ||
Screening for mutations of the APC gene in 66 Italian familial adenomatous polyposis patients: evidence for phenotypic differences in cases with and without identified mutation | Q74643959 | ||
Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions | Q77931925 | ||
Identification of a 3 kb Alu-mediated BRCA1 gene rearrangement in two breast/ovarian cancer families | Q78093600 | ||
P4510 | describes a project that uses | ImageQuant | Q112270642 |
P433 | issue | 4 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | ovarian cancer | Q172341 |
electrophoresis | Q185098 | ||
P304 | page(s) | 841-850 | |
P577 | publication date | 2000-09-07 | |
P1433 | published in | American Journal of Human Genetics | Q4744249 |
P1476 | title | Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing | |
P478 | volume | 67 |
Q36108177 | Age and Geographical Distribution in Families with BRCA1/BRCA2 Mutations in the Slovak Republic |
Q37130774 | Age-dependent penetrance of different germline mutations in the BRCA1 gene |
Q57694675 | An improved high throughput heteroduplex mutation detection system for screeningBRCA2 mutations?fluorescent mutation detection (F-MD) |
Q48229800 | Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects |
Q64018986 | Are Medullary Breast Cancers an Indication for BRCA1 Mutation Screening? A Mutation Analysis of 42 Cases of Medullary Breast Cancer |
Q54996542 | Assessment of individuals with BRCA1 and BRCA2 large rearrangements in high-risk breast and ovarian cancer families |
Q34032766 | BRCA-associated ovarian cancer: from molecular genetics to risk management |
Q54348841 | BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients. |
Q39514959 | BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants |
Q44221699 | BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases |
Q82294677 | BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia |
Q34793004 | BRCA1 methylation: a significant role in tumour development? |
Q46574954 | BRCA1 variants in a family study of African-American and Latina women |
Q37219028 | BRCA2 T2722R is a deleterious allele that causes exon skipping |
Q37011738 | Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations |
Q36065648 | COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia |
Q34346199 | Cancer genetics in oncology practice |
Q24796063 | Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer |
Q49059470 | Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes |
Q33259252 | Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India |
Q34729086 | Counseling the at risk patient in the BRCA1 and BRCA2 Era. |
Q40646017 | Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2. |
Q37216697 | Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot |
Q83419012 | Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer |
Q35775886 | Functional assays for BRCA1 and BRCA2. |
Q34554709 | Gene expression in inherited breast cancer |
Q35552631 | Genetics and the Management of Women at High Risk for Breast Cancer |
Q34562526 | Genomic rearrangements in BRCA1 and BRCA2: A literature review. |
Q33986463 | Genomic rearrangements in the BRCA1 and BRCA2 genes. |
Q40740236 | Germline BRCA1 promoter deletions in UK and Australian familial breast cancer patients: Identification of a novel deletion consistent with BRCA1:psiBRCA1 recombination. |
Q51997121 | Haplotype analysis of BRCA1 gene reveals a new gene rearrangement: characterization of a 19.9 KBP deletion. |
Q24797370 | Haplotype analysis of common variants in the BRCA1 gene and risk of sporadic breast cancer |
Q56928447 | Hereditary breast cancer |
Q37977556 | Hereditary ovarian cancer: beyond the usual suspects |
Q30832030 | High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic |
Q35828679 | Improved survival in BRCA2 carriers with ovarian cancer |
Q44243698 | Inherited BRCA2 mutations in African Americans with breast and/or ovarian cancer: a study of familial and early onset cases |
Q57222828 | Large genomic rearrangement of BRCA1 and BRCA2 genes in familial breast cancer patients in Korea |
Q83841468 | Low prevalence of BRCA1 exon rearrangements in familial and young sporadic breast cancer patients |
Q57908368 | Management of BRCA Mutation-Negative Patients |
Q57908375 | Management of BRCA-Negative Hereditary Breast Cancer Families |
Q81787605 | Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families |
Q36501516 | Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population. |
Q39395809 | Mutation spectrum and prevalence of BRCA1 and BRCA2 genes in patients with familial and early-onset breast/ovarian cancer from Tunisia. |
Q27013687 | Ovarian cancer biomarker discovery based on genomic approaches |
Q36529399 | Pitfalls and caveats in BRCA sequencing |
Q36667820 | Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia |
Q53286511 | Prevalence and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer. |
Q34113283 | Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer |
Q46744547 | Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Cuba |
Q81677599 | Prevalence of five previously reported and recurrent BRCA1 genetic rearrangement mutations in 20,000 patients from hereditary breast/ovarian cancer families |
Q33961119 | Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments |
Q36622666 | Screening of male breast cancer and of breast-ovarian cancer families for BRCA2 mutations using large bifluorescent amplicons |
Q36349221 | Sequence Variants of BRCA1 and BRCA2 Genes in Four Iranian Families with Breast and Ovarian Cancer |
Q78315335 | Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families |
Q57781606 | Spectrum and prevalence ofBRCA1 andBRCA2 germline mutations in Sardinian patients with breast carcinoma through hospital-based screening |
Q57741875 | The BRCA1 exon 13 duplication in the Swedish population |
Q37364392 | The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families |
Q34263162 | Translational advances regarding hereditary breast cancer syndromes |
Q40259628 | Uptake of BRCA1 rearrangement panel testing: in individuals previously tested for BRCA1/2 mutations |
Search more.