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1.
Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11.
Hum Mutat
; 39(4): 515-526, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29280214
2.
Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing.
Breast Cancer Res Treat
; 132(1): 87-95, 2012 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-21553119
3.
Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.
BMC Cancer
; 8: 140, 2008 May 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-18489799
4.
Diagnosis of Fanconi Anaemia by ionising radiation- or mitomycin C-induced micronuclei.
DNA Repair (Amst)
; 61: 17-24, 2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29154021
5.
Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5' end of the BRCA1 gene.
Oncogene
; 21(26): 4171-5, 2002 Jun 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-12037674
6.
Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden.
J Mol Diagn
; 11(5): 415-9, 2009 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-19644020
7.
Rapid and sensitive detection of BRCA1/2 mutations in a diagnostic setting: comparison of two high-resolution melting platforms.
Clin Chem
; 54(6): 982-9, 2008 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-18403564
8.
Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2.
Genes Chromosomes Cancer
; 37(3): 314-20, 2003 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-12759930
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