Detalhe da pesquisa
1.
Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.
Am J Med Genet A
; 167A(2): 345-53, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-25756153
2.
Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH.
Genome Res
; 21(4): 535-44, 2011 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-21383316
3.
Experience using a rapid assay for aneuploidy and microdeletion/microduplication detection in over 2,900 prenatal specimens.
Fetal Diagn Ther
; 36(3): 231-41, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-25115231
4.
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.
Hum Mutat
; 34(10): 1415-23, 2013 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-23878096
5.
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
Inglês
| MEDLINE | ID: mdl-21800092
6.
Defining the impact of maternal cell contamination on the interpretation of prenatal microarray analysis.
Genet Med
; 14(11): 914-21, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-22766610
7.
Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies.
Prenat Diagn
; 32(10): 976-85, 2012 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-22865506
8.
Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound.
Prenat Diagn
; 32(10): 986-95, 2012 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-22847778
9.
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
Inglês
| MEDLINE | ID: mdl-21792059
10.
The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes.
Prenat Diagn
; 31(8): 778-87, 2011 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-21692086
11.
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Genet Med
; 12(11): 694-702, 2010 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-20808228
12.
Clinical utility of chromosomal microarray analysis.
Pediatrics
; 130(5): e1085-95, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23071206
13.
Prenatal diagnosis of an unexpected interstitial 22q11.2 deletion causing truncus arteriosus and thymic hypoplasia in a ring 22 chromosome derived from a maternally inherited paracentric inversion.
Prenat Diagn
; 26(13): 1212-5, 2006 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-17099929
14.
Novel clinical features in a child with partial deletion of chromosome 11 [del(11)(q24.2)]: further evidence for phenotypic heterogeneity.
Am J Med Genet A
; 140(4): 385-7, 2006 Feb 15.
Artigo
Inglês
| MEDLINE | ID: mdl-16411193