Detalhe da pesquisa
1.
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
em Inglês
| MEDLINE | ID: mdl-21383316
2.
Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients.
Am J Med Genet A
; 164A(1): 62-9, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24243649
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
em Inglês
| MEDLINE | ID: mdl-25115231
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.
Defining the impact of maternal cell contamination on the interpretation of prenatal microarray analysis.
Genet Med
; 14(11): 914-21, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22766610
6.
NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype.
Genet Med
; 14(5): 508-14, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22241097
7.
Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies.
Prenat Diagn
; 32(10): 976-85, 2012 Oct.
Artigo
em 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
em 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
em Inglês
| MEDLINE | ID: mdl-21792059
10.
Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay.
Am J Med Genet A
; 155A(12): 3110-5, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22065534
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.
The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes.
Prenat Diagn
; 31(8): 778-87, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21692086
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.
Deletion of hepatocyte nuclear factor-1-beta in an infant with prune belly syndrome.
Am J Perinatol
; 27(7): 559-63, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20175044
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.
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
18.
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Nat Genet
; 46(10): 1063-71, 2014 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-25217958
19.
Clinical utility of chromosomal microarray analysis.
Pediatrics
; 130(5): e1085-95, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23071206
20.
New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.
Eur J Med Genet
; 54(1): 42-9, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-20951845