Detalhe da pesquisa
1.
The dangers of including nonclassical cystic fibrosis variants in population-based screening panels: p.L997F, further genotype/phenotype correlation data.
Genet Med
; 13(12): 1042-4, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21804385
2.
Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis.
Genet Med
; 13(2): 166-72, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21068670
3.
Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.
Pediatr Res
; 67(2): 217-20, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19858779
4.
Molecular testing: improving patient care through partnering with laboratory genetic counselors.
Genet Med
; 10(5): 337-42, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18496032
5.
Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene.
J Mol Diagn
; 9(4): 556-60, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17690208
6.
Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency).
J Mol Diagn
; 7(2): 236-46, 2005 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15858147
7.
Apparent homozygosity of a novel frame shift mutation in the CFTR gene because of a large deletion.
J Mol Diagn
; 11(3): 253-6, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19324987
8.
Identification of cystic fibrosis variants by polymerase chain reaction/oligonucleotide ligation assay.
J Mol Diagn
; 11(3): 211-5, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19324992
9.
Molecular testing for Fragile X Syndrome: lessons learned from 119,232 tests performed in a clinical laboratory.
Genet Med
; 9(1): 46-51, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17224689
10.
Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening.
Hum Genet
; 119(1-2): 126-36, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16362824
11.
Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples.
Hum Genet
; 118(3-4): 331-8, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16189704
12.
Detection of 677CT/1298AC "double variant" chromosomes: implications for interpretation of MTHFR genotyping results.
Genet Med
; 7(4): 278-82, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15834246
13.
Frequency of the cystic fibrosis 3199del6 mutation in individuals heterozygous for I148T.
Genet Med
; 6(2): 108-9, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15017334
14.
Cystic fibrosis screening: lessons learned from the first 320,000 patients.
Genet Med
; 6(3): 136-40, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15354331
15.
Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100,000 tests performed in a commercial laboratory.
Genet Med
; 6(3): 145-52, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15354333
16.
Usher syndrome clinical types I and II: could ocular symptoms and signs differentiate between the two types?
Acta Ophthalmol Scand
; 80(2): 196-201, 2002 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-11952489