Detalhe da pesquisa
1.
Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.
Clin Genet
; 84(1): 31-6, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23061379
2.
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.
J Med Genet
; 43(3): 211-217, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16169932
3.
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.
J Med Genet
; 39(4): 266-70, 2002 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-11950856
4.
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.
Eur J Hum Genet
; 9(5): 319-27, 2001 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-11378819
5.
Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature.
Am J Med Genet
; 113(4): 339-45, 2002 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12457405
6.
[A preliminary study to assess the value of the DNA chips SpectralChip to detect subtle constitutional chromosome imbalances]. / Evaluation de la puce à ADN SpectralChip pour la détection des déséquilibres chromosomiques observés en pathologie constitutionnelle.
Ann Biol Clin (Paris)
; 62(2): 203-12, 2004.
Artigo
em Francês
| MEDLINE | ID: mdl-15047473
7.
[Value of molecular cytogenetics in pre- and postnatal diagnostic of chromosome abnormalities]. / Apport de la cytogénétique moléculaire au diagnostic pré et postnatal des anomalies chromosomiques.
J Gynecol Obstet Biol Reprod (Paris)
; 30(1 Suppl): 75-9, 2001 Feb.
Artigo
em Francês
| MEDLINE | ID: mdl-11240520
8.
Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation.
Hum Genet
; 108(6): 511-5, 2001 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-11499677
9.
A CGH study of 27 patients with CHARGE association.
Clin Genet
; 61(2): 135-8, 2002 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-11940088
10.
Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann features.
Prenat Diagn
; 20(6): 511-5, 2000 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-10861719
11.
Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype.
Clin Genet
; 60(3): 212-9, 2001 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-11595023