Detalhe da pesquisa
1.
Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa.
Ann Neurol
; 75(4): 525-32, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24515897
2.
Evidence for common ancestral origin of a recurring BRCA1 genomic rearrangement identified in high-risk Hispanic families.
Cancer Epidemiol Biomarkers Prev
; 16(8): 1615-20, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17646271
3.
Bioinformatics and human identification in mass fatality incidents: the world trade center disaster.
J Forensic Sci
; 52(4): 806-19, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17524061
4.
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.
Cancer Res
; 65(21): 10096-103, 2005 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16267036
5.
Prediction of MLH1 and MSH2 mutations in Lynch syndrome.
JAMA
; 296(12): 1469-78, 2006 Sep 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-17003395
6.
Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?
eNeurologicalSci
; 3: 17-20, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29430530
7.
A multi-exonic BRCA1 deletion identified in multiple families through single nucleotide polymorphism haplotype pair analysis and gene amplification with widely dispersed primer sets.
J Mol Diagn
; 7(1): 139-42, 2005 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-15681486
8.
Single nucleotide polymorphisms in clinical genetic testing: the characterization of the clinical significance of genetic variants and their application in clinical research for BRCA1.
Mutat Res
; 573(1-2): 168-79, 2005 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-15829246
9.
Accurate STR allele designations at the FGA and vWA loci despite primer site polymorphisms.
J Forensic Sci
; 49(2): 250-4, 2004 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15027538
10.
A GC-wave correction algorithm that improves the analytical performance of aCGH.
J Mol Diagn
; 14(6): 550-9, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22922130
11.
Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens.
Eur J Hum Genet
; 20(1): 27-32, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21811307
12.
Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas.
Cancer Res
; 68(2): 358-63, 2008 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18199528
13.
Prevalence of five previously reported and recurrent BRCA1 genetic rearrangement mutations in 20,000 patients from hereditary breast/ovarian cancer families.
Genes Chromosomes Cancer
; 43(3): 309-13, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15846789
14.
Two rare novel polymorphisms in the D8S1179 and D13S317 markers and method to mitigate their impact on human identification.
Croat Med J
; 45(4): 457-60, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15311419
15.
A biochemical analysis demonstrates that the BRCA1 intronic variant IVS10-2A--> C is a mutation.
J Hum Genet
; 48(8): 399-403, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-14513821