Search details
1.
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Kidney Int
; 105(4): 844-864, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38154558
2.
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Kidney Int
; 104(2): 378-387, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37230223
3.
Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.
Hum Mutat
; 43(3): 347-361, 2022 03.
Article
in English
| MEDLINE | ID: mdl-35005812
4.
Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.
Hum Mol Genet
; 28(16): 2720-2737, 2019 08 15.
Article
in English
| MEDLINE | ID: mdl-31042281
5.
Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.
Hum Mol Genet
; 28(5): 778-795, 2019 03 01.
Article
in English
| MEDLINE | ID: mdl-30388224
6.
Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.
Pediatr Nephrol
; 36(8): 2361-2369, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33580824
7.
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
Am J Hum Genet
; 101(5): 803-814, 2017 Nov 02.
Article
in English
| MEDLINE | ID: mdl-29100091
8.
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.
PLoS Genet
; 12(3): e1005894, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26967905
9.
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
J Am Soc Nephrol
; 28(10): 2901-2914, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28566479
10.
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
Am J Hum Genet
; 94(2): 288-94, 2014 Feb 06.
Article
in English
| MEDLINE | ID: mdl-24439109
11.
DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.
Hum Mutat
; 37(10): 1025-9, 2016 10.
Article
in English
| MEDLINE | ID: mdl-27319779
12.
Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT).
Hum Genet
; 135(1): 69-87, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26572137
13.
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
Am J Hum Genet
; 89(5): 634-43, 2011 Nov 11.
Article
in English
| MEDLINE | ID: mdl-22019273
14.
Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros.
Hum Mol Genet
; 20(13): 2611-27, 2011 Jul 01.
Article
in English
| MEDLINE | ID: mdl-21498478
15.
Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
medRxiv
; 2023 Mar 22.
Article
in English
| MEDLINE | ID: mdl-36993625
16.
RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects.
J Med Genet
; 48(7): 497-504, 2011 Jul.
Article
in English
| MEDLINE | ID: mdl-21490379
17.
Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT).
Nephrol Dial Transplant
; 26(12): 3843-51, 2011 Dec.
Article
in English
| MEDLINE | ID: mdl-22121240
18.
WNT/beta-catenin pathway activation in Wilms tumors: a unifying mechanism with multiple entries?
Genes Chromosomes Cancer
; 48(9): 816-27, 2009 Sep.
Article
in English
| MEDLINE | ID: mdl-19530245
19.
[FGF9 and FGF20 maintain the stemness of nephron progenitors during kidney development]. / Rôle crucial de FGF20 et FGF9 pour le maintien des progéniteurs rénaux lors du développement rénal.
Med Sci (Paris)
; 29(3): 254-6, 2013 Mar.
Article
in French
| MEDLINE | ID: mdl-23544377
20.
Small glomeruli in WAGR (Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation) syndrome.
Am J Kidney Dis
; 49(6): 793-800, 2007 Jun.
Article
in English
| MEDLINE | ID: mdl-17533022