Detalhe da pesquisa
1.
Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.
PLoS Genet
; 11(3): e1005024, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25763902
2.
WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.
Hum Mol Genet
; 24(18): 5069-78, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26105184
3.
Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.
Hum Mol Genet
; 23(20): 5536-44, 2014 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24852367
4.
CNV analysis in 169 patients with bladder exstrophy-epispadias complex.
BMC Med Genet
; 17(1): 35, 2016 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-27138190
5.
Further evidence for deletions in 7p14.1 contributing to nonsyndromic cleft lip with or without cleft palate.
Birth Defects Res A Clin Mol Teratol
; 106(9): 767-72, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27384521
6.
Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis.
Int J Cancer
; 136(6): E578-89, 2015 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25219767
7.
Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities.
Birth Defects Res A Clin Mol Teratol
; 103(4): 235-42, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25250690
8.
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.
Kidney Int
; 85(6): 1310-7, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24152966
9.
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.
Am J Hum Genet
; 89(5): 668-74, 2011 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-22077972
10.
Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies.
Birth Defects Res A Clin Mol Teratol
; 100(10): 750-9, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25131394
11.
Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region.
Birth Defects Res A Clin Mol Teratol
; 100(6): 512-7, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24764164
12.
No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations.
Birth Defects Res A Clin Mol Teratol
; 100(6): 483-92, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24841934
13.
De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations.
Am J Med Genet A
; 161A(12): 3035-41, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24038947
14.
Candidate gene association study implicates p63 in the etiology of nonsyndromic bladder-exstrophy-epispadias complex.
Birth Defects Res A Clin Mol Teratol
; 97(12): 759-63, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23913486
15.
Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12.
Birth Defects Res A Clin Mol Teratol
; 97(3): 133-9, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23359465
16.
CNV analysis in monozygotic twin pairs discordant for urorectal malformations.
Twin Res Hum Genet
; 16(4): 802-7, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23659922
17.
Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis.
Hum Mutat
; 33(7): 1045-50, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22431159
18.
Nine new twin pairs with esophageal atresia: a review of the literature and performance of a twin study of the disorder.
Birth Defects Res A Clin Mol Teratol
; 94(3): 182-6, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22287212
19.
Familial occurrence of the VATER/VACTERL association.
Pediatr Surg Int
; 28(7): 725-9, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22422375
20.
Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family.
Hum Genet
; 129(5): 513-9, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21225285