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1.
Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers.
BMC Cancer
; 22(1): 706, 2022 Jun 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-35761208
2.
Physical activity and Mediterranean diet as potential modulators of osteoprotegerin and soluble RANKL in gBRCA1/2 mutation carriers: results of the lifestyle intervention pilot study LIBRE-1.
Breast Cancer Res Treat
; 190(3): 463-475, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34570303
3.
TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge.
Arch Gynecol Obstet
; 303(6): 1557-1567, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33245408
4.
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
Breast Cancer Res
; 20(1): 7, 2018 01 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-29368626
5.
High expression of crystallin αB represents an independent molecular marker for unfavourable ovarian cancer patient outcome and impairs TRAIL- and cisplatin-induced apoptosis in human ovarian cancer cells.
Int J Cancer
; 132(12): 2820-32, 2013 Jun 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-23225306
6.
NCALD as a potential predictive biomarker for the efficacy of platinum-based chemotherapy in ovarian cancer.
Biomark Med
; 16(14): 1029-1041, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-36444691
7.
Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer.
Cancers (Basel)
; 14(13)2022 Jul 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35805063
8.
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Cancers (Basel)
; 14(14)2022 Jul 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-35884425
9.
Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy.
Am J Hum Genet
; 82(1): 188-93, 2008 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-18179898
10.
The DNA sequence of the human X chromosome.
Nature
; 434(7031): 325-37, 2005 Mar 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-15772651
11.
PALLD mutation in a European family conveys a stromal predisposition for familial pancreatic cancer.
JCI Insight
; 6(8)2021 03 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-33764904
12.
Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer.
Geburtshilfe Frauenheilkd
; 80(4): 410-429, 2020 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-32322110
13.
Decreased expression of angiogenesis antagonist EFEMP1 in sporadic breast cancer is caused by aberrant promoter methylation and points to an impact of EFEMP1 as molecular biomarker.
Int J Cancer
; 124(7): 1727-35, 2009 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-19115204
14.
Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.
Cancer Med
; 7(4): 1349-1358, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29522266
15.
Allelic loss analysis by denaturing high-performance liquid chromatography and electrospray ionization mass spectrometry.
Hum Mutat
; 28(3): 303-11, 2007 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-17109391
16.
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
Eur J Hum Genet
; 15(1): 29-34, 2007 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-17033686
17.
Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer.
JAMA Oncol
; 3(9): 1245-1248, 2017 Sep 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28033443
18.
Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22.
Eur J Hum Genet
; 10(3): 217-21, 2002 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-11973628
19.
Honeybee (Apis mellifera L.) mrjp gene family: computational analysis of putative promoters and genomic structure of mrjp1, the gene coding for the most abundant protein of larval food.
Gene
; 303: 165-75, 2003 Jan 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-12559578
20.
Refinement of the physical location and the genomic characterization of the CRSP2 (EXLM1) gene on Xp11.4.
DNA Seq
; 14(2): 123-7, 2003 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-12825353