Detalhe da pesquisa
1.
COVID-19 and the adaptive evolution of genetic counseling.
J Genet Couns
; 31(4): 832-835, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35304788
2.
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.
Nat Genet
; 39(9): 1071-3, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17704777
3.
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
Am J Hum Genet
; 86(3): 454-61, 2010 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20206336
4.
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
Hum Genet
; 131(1): 145-56, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21800092
5.
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
Am J Hum Genet
; 84(6): 780-91, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19500772
6.
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
Genet Med
; 14(10): 868-76, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22722545
7.
Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.
Hum Mol Genet
; 18(8): 1377-83, 2009 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19193630
8.
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.
Genet Med
; 13(10): 868-80, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21792059
9.
Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.
Mol Vis
; 17: 827-43, 2011 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-21527998
10.
Identification of novel suggestive loci for high-grade myopia in Polish families.
Mol Vis
; 17: 2028-39, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21850178
11.
Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate.
Am J Med Genet A
; 155A(7): 1646-53, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21671386
12.
Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.
Am J Med Genet A
; 155A(8): 1906-16, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21744490
13.
Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.
Hum Genet
; 127(4): 421-40, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20066439
14.
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Genet Med
; 12(11): 694-702, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20808228
15.
Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH.
Genet Med
; 11(5): 314-22, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19365269
16.
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.
Genet Med
; 11(11): 797-805, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19938247
17.
Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome.
Am J Med Genet A
; 149A(10): 2122-8, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19760651
18.
aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy.
Am J Med Genet A
; 149A(5): 914-8, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19353629
19.
Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray.
Prenat Diagn
; 29(12): 1156-66, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19795450
20.
Human anterior chamber angle development without cell death or macrophage involvement.
Mol Vis
; 14: 2492-8, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-19112535