Detalhe da pesquisa
1.
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.
Am J Hum Genet
; 99(5): 1015-1033, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27745839
2.
De novo mutations in histone-modifying genes in congenital heart disease.
Nature
; 498(7453): 220-3, 2013 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-23665959
3.
Detection of Chromosomal Aberrations in Clinical Practice: From Karyotype to Genome Sequence.
Annu Rev Genomics Hum Genet
; 16: 309-26, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26077817
4.
Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.
PLoS Genet
; 10(5): e1004333, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24831815
5.
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.
Circ Res
; 115(10): 884-896, 2014 Oct 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-25205790
6.
Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis.
Proc Natl Acad Sci U S A
; 110(19): 7790-5, 2013 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23603273
7.
Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss.
Hum Genet
; 133(4): 417-24, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24477775
8.
The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease.
Hum Genet
; 133(1): 11-27, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23979609
9.
Skewed X chromosome inactivation and trisomic spontaneous abortion: no association.
Am J Hum Genet
; 85(2): 179-93, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19646676
10.
Duplication of the ZIC2 gene is not associated with holoprosencephaly.
Am J Med Genet A
; 158A(1): 103-8, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22105922
11.
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies.
Proc Natl Acad Sci U S A
; 106(29): 12031-6, 2009 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-19597142
12.
The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.
Am J Med Genet A
; 155A(8): 1884-96, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21744488
13.
Using FISH to increase the yield and accuracy of karyotypes from spontaneous abortion specimens.
Prenat Diagn
; 31(8): 755-9, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21484844
14.
A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice.
Hum Mol Genet
; 17(22): 3539-51, 2008 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18713754
15.
Prenatal PAH exposure is associated with chromosome-specific aberrations in cord blood.
Mutat Res
; 703(2): 108-14, 2010 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-20709184
16.
Fluorescence in situ hybridization is necessary to detect an association between chromosome aberrations and polycyclic aromatic hydrocarbon exposure in utero and reveals nonrandom chromosome involvement.
Environ Mol Mutagen
; 48(2): 114-23, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17253628
17.
Cell type-specific over-expression of chromosome 21 genes in fibroblasts and fetal hearts with trisomy 21.
BMC Med Genet
; 7: 24, 2006 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16539728
18.
Chromosomal aberrations in cord blood are associated with prenatal exposure to carcinogenic polycyclic aromatic hydrocarbons.
Cancer Epidemiol Biomarkers Prev
; 14(2): 506-11, 2005 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-15734979
19.
Scrambling eggs in plastic bottles.
PLoS Genet
; 3(1): e6, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17222060
20.
Hypoplastic left heart in a female infant with partial trisomy 4q due to de novo 4;21 translocation.
Am J Med Genet
; 107(4): 330-3, 2002 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-11840491