Detalhe da pesquisa
1.
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.
J Med Genet
; 60(6): 587-596, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36379543
2.
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
Am J Hum Genet
; 107(4): 727-742, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32891193
3.
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.
Am J Hum Genet
; 104(5): 994-1006, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31051115
4.
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Genet Med
; 23(9): 1715-1725, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34054129
5.
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.
Am J Med Genet A
; 185(12): 3784-3792, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34338422
6.
Increased psychosocial risk, depression and reduced quality of life living with autosomal dominant polycystic kidney disease.
Nephrol Dial Transplant
; 31(7): 1130-40, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26268712
7.
Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract.
Nephrol Dial Transplant
; 31(8): 1280-3, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26908769
8.
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association.
Hum Mutat
; 36(12): 1150-4, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26294094
9.
Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.
Hum Genet
; 134(8): 905-16, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26026792
10.
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
11.
Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.
J Am Soc Nephrol
; 25(9): 1917-22, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24700879
12.
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.
Kidney Int
; 85(6): 1429-33, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24429398
13.
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
14.
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
15.
Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans.
Pediatr Nephrol
; 29(4): 695-704, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24398540
16.
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
NPJ Genom Med
; 9(1): 18, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38429302
17.
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
18.
Modelling human lower urinary tract malformations in zebrafish.
Mol Cell Pediatr
; 10(1): 2, 2023 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36977792
19.
Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.
Biomolecules
; 13(7)2023 07 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37509153
20.
Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations.
Eur J Hum Genet
; 31(1): 105-111, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36319675