Detalhe da pesquisa
1.
Increased symptoms of attention deficit hyperactivity disorder and major depressive disorder symptoms in Nail-patella syndrome: potential association with LMX1B loss-of-function.
Am J Med Genet B Neuropsychiatr Genet
; 156B(1): 59-66, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21184584
2.
Albinism and developmental delay: the need to test for 15q11-q13 deletion.
Pediatr Neurol
; 37(4): 299-302, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17903679
3.
Skeletal integrity in patients with nail patella syndrome.
J Clin Endocrinol Metab
; 90(4): 1961-5, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15623820
4.
A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression.
Eur J Hum Genet
; 13(3): 330-5, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15562281
5.
Evidence for linkage of nonsyndromic cleft lip with or without cleft palate to a region on chromosome 2.
Eur J Hum Genet
; 11(11): 835-9, 2003 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-14571267
6.
The pre-travel health consultation.
J Travel Med
; 22(3): 143-4, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25904464
7.
Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.
Eur J Hum Genet
; 18(6): 726-32, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20087401
8.
Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations.
Genet Med
; 9(4): 219-27, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17438386
9.
The human LMX1B gene: transcription unit, promoter, and pathogenic mutations.
Genomics
; 84(3): 565-76, 2004 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-15498463
10.
Family-based analysis of MSX1 haplotypes for association with oral clefts.
Genet Epidemiol
; 25(2): 168-75, 2003 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-12916025
11.
Association of human aging with a functional variant of klotho.
Proc Natl Acad Sci U S A
; 99(2): 856-61, 2002 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-11792841
12.
A genome-wide scan for loci predisposing to non-syndromic cleft lip with or without cleft palate in two large Syrian families.
Am J Med Genet A
; 123A(2): 140-7, 2003 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-14598337
13.
QRX, a novel homeobox gene, modulates photoreceptor gene expression.
Hum Mol Genet
; 13(10): 1025-40, 2004 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15028672
14.
Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.
Am J Hum Genet
; 75(2): 161-73, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15185170
15.
Comparing whole-genome amplification methods and sources of biological samples for single-nucleotide polymorphism genotyping.
Clin Chem
; 51(8): 1520-3, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16040848