Detalhe da pesquisa
1.
De novo variants in ATP2B1 lead to neurodevelopmental delay.
Am J Hum Genet
; 109(5): 944-952, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35358416
2.
Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease.
Neuropediatrics
; 52(5): 390-393, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33352606
3.
Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype.
Am J Med Genet A
; 179(11): 2252-2256, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31373173
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
Second study on the recurrence risk of isolated esophageal atresia with or without trachea-esophageal fistula among first-degree relatives: no evidence for increased risk of recurrence of EA/TEF or for malformations of the VATER/VACTERL association spectrum.
Birth Defects Res A Clin Mol Teratol
; 97(12): 786-91, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24307608
12.
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
13.
De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.
Pediatr Neurol
; 148: 164-171, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37734130
14.
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
15.
Familial occurrence of the VATER/VACTERL association.
Pediatr Surg Int
; 28(7): 725-9, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22422375
16.
Unexpected results of a nationwide, treatment-independent assessment of fecal incontinence in patients with anorectal anomalies.
Pediatr Surg Int
; 28(8): 825-30, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22821084
17.
Inheritance of the VATER/VACTERL association.
Pediatr Surg Int
; 28(7): 681-5, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22581124
18.
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.
Orphanet J Rare Dis
; 17(1): 29, 2022 01 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35101074
19.
Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe.
J Pediatr
; 159(5): 825-831.e1, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21679965
20.
Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature.
Eur J Pediatr
; 170(6): 741-6, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21042811