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BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel.
- Published in:
- Hereditary Cancer in Clinical Practice, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s13053-023-00256-2
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- Publication type:
- Article
Spontaneous splenic rupture in an active duty Marine upon return from Iraq: a case report.
- Published in:
- 2010
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- Publication type:
- journal article
Mosaic deletion of EXOC6B: Further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3088, doi. 10.1002/ajmg.a.36770
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- Publication type:
- Article
3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3061, doi. 10.1002/ajmg.a.36761
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- Publication type:
- Article
Germline testing for homologous recombination repair genes—opportunities and challenges.
- Published in:
- Genes, Chromosomes & Cancer, 2021, v. 60, n. 5, p. 332, doi. 10.1002/gcc.22900
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- Publication type:
- Article
A large MSH2 Alu insertion mutation causes HNPCC in a German kindred.
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- Human Genetics, 2004, v. 115, n. 5, p. 432, doi. 10.1007/s00439-004-1176-9
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- Publication type:
- Article
Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.
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- Human Genetics, 2002, v. 111, n. 1, p. 108, doi. 10.1007/s00439-002-0748-9
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- Publication type:
- Article
Association of a Common AKAP9 Variant With Breast Cancer Risk: A Collaborative Analysis.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2008, v. 100, n. 6, p. 437, doi. 10.1093/jnci/djn037
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- Publication type:
- Article
Pathogenesis of DNA repair-deficient cancers: a statistical meta-analysis of putative Real Common Target genes.
- Published in:
- Oncogene, 2003, v. 22, n. 15, p. 2226, doi. 10.1038/sj.onc.1206421
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- Publication type:
- Article
Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer.
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- Cancers, 2022, v. 14, n. 13, p. N.PAG, doi. 10.3390/cancers14133292
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- Publication type:
- Article
Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 704, doi. 10.1038/ejhg.2014.163
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- Publication type:
- Article
Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance.
- Published in:
- Breast Cancer Research & Treatment, 2014, v. 145, n. 2, p. 451, doi. 10.1007/s10549-014-2943-5
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- Publication type:
- Article
Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 gene.
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- Breast Cancer Research & Treatment, 2012, v. 133, n. 2, p. 725, doi. 10.1007/s10549-011-1917-0
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- Publication type:
- Article
A variant affecting miRNAs binding in the circadian gene Neuronal PAS domain protein 2 ( NPAS2) is not associated with breast cancer risk.
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- Breast Cancer Research & Treatment, 2011, v. 127, n. 3, p. 769, doi. 10.1007/s10549-010-1157-8
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- Publication type:
- Article
Genetic variants within miR-126 and miR-335 are not associated with breast cancer risk.
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- Breast Cancer Research & Treatment, 2011, v. 127, n. 2, p. 549, doi. 10.1007/s10549-010-1244-x
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- Publication type:
- Article
A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk.
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- Breast Cancer Research & Treatment, 2010, v. 121, n. 3, p. 693, doi. 10.1007/s10549-009-0633-5
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- Publication type:
- Article
Polymorphisms in BRCA2 resulting in aberrant codon-usage and their analysis on familial breast cancer risk.
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- Breast Cancer Research & Treatment, 2010, v. 118, n. 2, p. 407, doi. 10.1007/s10549-009-0348-7
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- Publication type:
- Article
The CASP8 -652 6N del promoter polymorphism and breast cancer risk: a multicenter study.
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- Breast Cancer Research & Treatment, 2008, v. 111, n. 1, p. 139
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- Publication type:
- Article
Genetic variation in the major mitotic checkpoint genes does not affect familial breast cancer risk.
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- Breast Cancer Research & Treatment, 2007, v. 106, n. 2, p. 205, doi. 10.1007/s10549-007-9496-9
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- Publication type:
- Article
Breast cancer characteristics and surgery among women with Li‐Fraumeni syndrome in Germany—A retrospective cohort study.
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- Cancer Medicine, 2021, v. 10, n. 21, p. 7747, doi. 10.1002/cam4.4300
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- Publication type:
- Article
Gene panel testing of 5589 <italic>BRCA1/2</italic>‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.
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- Cancer Medicine, 2018, v. 7, n. 4, p. 1349, doi. 10.1002/cam4.1376
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- Publication type:
- Article
Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.
- Published in:
- 2014
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- Publication type:
- journal article
Effect of Treatment Success and Empathy on Surgeon Attributions for Back Surgery Outcomes.
- Published in:
- Journal of Behavioral Medicine, 2005, v. 28, n. 4, p. 301, doi. 10.1007/s10865-005-9007-6
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- Publication type:
- Article
The association between breast cancer and S100P methylation in peripheral blood by multicenter case-control studies.
- Published in:
- Carcinogenesis, 2017, v. 38, n. 3, p. 312, doi. 10.1093/carcin/bgx004
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- Publication type:
- Article
A variant affecting a putative miRNA target site in estrogen receptor (ESR) 1 is associated with breast cancer risk in premenopausal women.
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- Carcinogenesis, 2009, v. 30, n. 1, p. 59, doi. 10.1093/carcin/bgn253
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- Publication type:
- Article
SNPs in ultraconserved elements and familial breast cancer risk.
- Published in:
- Carcinogenesis, 2008, v. 29, n. 2, p. 351, doi. 10.1093/carcin/bgm290
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- Publication type:
- Article
Copy number variant in the candidate tumor suppressor gene MTUS1 and familial breast cancer risk.
- Published in:
- Carcinogenesis, 2007, v. 28, n. 7, p. 1442, doi. 10.1093/carcin/bgm033
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- Publication type:
- Article
Associations of genetic variants in the estrogen receptor coactivators PPARGC1A, PPARGC1B and EP300 with familial breast cancer.
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- Carcinogenesis, 2006, v. 27, n. 11, p. 2201, doi. 10.1093/carcin/bgl067
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- Publication type:
- Article
Systematic identification of genes with coding microsatellites mutated in DNA mismatch repair-deficient cancer cells.
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- International Journal of Cancer, 2001, v. 93, n. 1, p. 12, doi. 10.1002/ijc.1299
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- Publication type:
- Article
Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.
- Published in:
- 2019
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- Publication type:
- journal article
Analysis of v-Ha- ras and v- fos oncogene transduction into a mouse epidermal cell line with 'initiated' phenotype in culture but normal skin phenotype in vivo.
- Published in:
- Molecular Carcinogenesis, 1995, v. 13, n. 2, p. 96, doi. 10.1002/mc.2940130206
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- Publication type:
- Article
ras gene activation and aberrant expression of keratin K13 in ultraviolet B radiation-induced epidermal neoplasias of mouse skin.
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- Molecular Carcinogenesis, 1993, v. 8, n. 1, p. 13, doi. 10.1002/mc.2940080106
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- Publication type:
- Article
v-Ha- ras-induced mouse skin papillomas exhibit aberrant expression of keratin K13 as do their 7,12-dimethylbenz[a]anthracene/12-O-tetradecanoylphorbol-13-acetate-induced analogues.
- Published in:
- Molecular Carcinogenesis, 1991, v. 4, n. 6, p. 467, doi. 10.1002/mc.2940040610
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- Publication type:
- Article
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
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- Human Molecular Genetics, 2015, v. 24, n. 18, p. 5345, doi. 10.1093/hmg/ddv251
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- Publication type:
- Article
The GPRC5A frameshift variant c.183del is not associated with increased breast cancer risk in BRCA1 mutation carriers.
- Published in:
- International Journal of Cancer, 2019, v. 144, n. 7, p. 1761, doi. 10.1002/ijc.32016
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- Publication type:
- Article
Single CpG hypermethylation, allele methylation errors, and decreased expression of multiple tumor suppressor genes in normal body cells of mutation‐negative early‐onset and high‐risk breast cancer patients.
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- International Journal of Cancer, 2018, v. 143, n. 6, p. 1416, doi. 10.1002/ijc.31526
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- Publication type:
- Article
DNA methylation array analyses identified breast cancer-associated HYAL2 methylation in peripheral blood.
- Published in:
- International Journal of Cancer, 2015, v. 136, n. 8, p. 1845, doi. 10.1002/ijc.29205
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- Publication type:
- Article
Association of death receptor 4 variant (683A>C) with ovarian cancer risk in BRCA1 mutation carriers.
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- International Journal of Cancer, 2012, v. 130, n. 6, p. 1314, doi. 10.1002/ijc.26134
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- Publication type:
- Article
Low-risk variants FGFR2, TNRC9 and LSP1 in German familial breast cancer patients.
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- International Journal of Cancer, 2010, v. 126, n. 12, p. 2858, doi. 10.1002/ijc.24986
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- Publication type:
- Article
7,12-Dimethylbenz [<em>a</em>] anthracene-Induced Mouse Keratinocyte Malignant Transformation Independent of Harvey <em>ras</em> Activation.
- Published in:
- Journal of Investigative Dermatology, 1993, v. 101, n. 4, p. 595, doi. 10.1111/1523-1747.ep12366051
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- Publication type:
- Article
Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor.
- Published in:
- Familial Cancer, 2017, v. 16, n. 2, p. 303, doi. 10.1007/s10689-016-9952-y
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- Publication type:
- Article
Hepatoblastoma in two siblings and familial adenomatous polyposis: causal nexus or coincidence?
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- Familial Cancer, 2012, v. 11, n. 3, p. 529, doi. 10.1007/s10689-012-9538-2
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- Publication type:
- Article
Recurrent deletions at 6q in early age of onset non-HNPCC- and non-FAP-associated intestinal carcinomas. Evidence for a novel cancer susceptibility locus at 6q14-q22.
- Published in:
- Genes, Chromosomes & Cancer, 2008, v. 47, n. 2, p. 159, doi. 10.1002/gcc.20516
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- Publication type:
- Article
Analysis of somatic APC mutations in rare extracolonic tumors of patients with familial adenomatous polyposis coli.
- Published in:
- Genes, Chromosomes & Cancer, 2004, v. 41, n. 2, p. 93, doi. 10.1002/gcc.20071
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- Publication type:
- Article
Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. E2176, doi. 10.1002/humu.21478
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- Publication type:
- Article
Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. 60, doi. 10.1002/humu.21134
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- Publication type:
- Article
Evaluation of SNPs in miR-146a, miR196a2 and miR-499 as low-penetrance alleles in German and Italian familial breast cancer cases.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. E1052, doi. 10.1002/humu.21141
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- Publication type:
- Article
Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue (Communicated by Daniel Schorderet) Online Citation: Human Mutation, Mutation in Brief #688 (2004) Online http://www3.interscience.wiley.com/homepages/38515/pdf/mutation/688.pdf)
- Published in:
- Human Mutation, 2004, v. 23, n. 3, p. 285
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- Publication type:
- Article
Present Status of Industrial Psychology in Colombia.
- Published in:
- International Journal of Psychology, 1971, v. 6, n. 4, p. 323, doi. 10.1080/00207597108246699
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- Publication type:
- Article