Detalhe da pesquisa
1.
Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4.
Am J Med Genet A
; 158A(11): 2931-4, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22987308
2.
Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): a patient report and review.
Am J Med Genet A
; 149A(7): 1468-75, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19449434
3.
A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome.
Eur J Hum Genet
; 15(7): 743-51, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17440500
4.
Comparing two diagnostic laboratory tests for Williams syndrome: fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification.
Genet Test
; 11(3): 321-7, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17949295
5.
Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.
Eur J Hum Genet
; 13(6): 731-41, 2005 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15798777
6.
A novel case of infantile sacral teratoma and a constitutional t(12;15)(q13;q25) pat.
Cancer Genet Cytogenet
; 136(1): 17-22, 2002 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12165446
7.
Complete FXN deletion in a patient with Friedreich's ataxia.
Genet Test Mol Biomarkers
; 16(9): 1015-8, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22691228
8.
Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism.
Eur J Hum Genet
; 19(9): 1009-12, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21487440
9.
Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15).
PLoS One
; 6(2): e16983, 2011 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21347293
10.
The use of comparative genomic hybridization and fluorescent in situ hybridization in postmortem pathology investigation of congenital malformations.
Pediatr Dev Pathol
; 13(2): 85-94, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-19594201
11.
Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.
Plast Reconstr Surg
; 115(7): 1894-902; discussion 1903-5, 2005 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15923834
12.
Selective chromosome analysis in couples with two or more miscarriages: case-control study.
BMJ
; 331(7509): 137-41, 2005 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-15985440
13.
Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring.
Am J Med Genet A
; 121A(2): 168-73, 2003 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-12910499
14.
An incomplete trisomy 3 rescue resulting in a marker chromosome and UPD(3)--difficulties in interpretation.
Prenat Diagn
; 28(10): 967-70, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18821719