Detalhe da pesquisa
1.
Isthmin-1: A critical regulator of branching morphogenesis and metanephric mesenchyme condensation during early kidney development.
Bioessays
; 46(3): e2300189, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38161234
2.
GEN1 as a risk factor for human congenital anomalies of the kidney and urinary tract.
Hum Genomics
; 18(1): 41, 2024 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38654324
3.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-38154558
4.
Novel CHRNA3 variants identified in a patient with bladder dysfunction, dysautonomia, and gastrointestinal dysmotility.
Am J Med Genet A
; 194(5): e63526, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38192228
5.
Substantial incidence of bladder dysfunction in patients with VACTERL association: Implications for surveillance.
Am J Med Genet A
; 194(2): 320-327, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37822287
6.
A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1.
Pediatr Res
; 95(5): 1246-1253, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38135728
7.
Hedgehog signalling in Foxd1+ embryonic kidney stromal progenitors controls nephron formation via Cxcl12 and Wnt5a.
J Pathol
; 261(4): 385-400, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37772431
8.
Müllerian anomalies in girls with congenital solitary kidney.
Pediatr Nephrol
; 39(6): 1783-1789, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38197956
9.
Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract.
Pediatr Nephrol
; 39(6): 1847-1858, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38196016
10.
Kidney and urological involvement in Down syndrome: frequent, underestimated, but associated with impaired quality of life and risk of kidney failure.
Pediatr Nephrol
; 39(2): 347-355, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37386331
11.
Hypertension in children with congenital anomalies of the kidney and urinary tract.
Pediatr Nephrol
; 39(4): 1185-1192, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37910243
12.
Congenital anomalies of the kidney and urinary tract: antenatal diagnosis, management and counselling of families.
Pediatr Nephrol
; 39(4): 1065-1075, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37656310
13.
Survival and factors associated with mortality among infants with anorectal malformation: a population-based study from a middle-income country.
Eur J Pediatr
; 183(1): 271-279, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37870607
14.
When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta-analysis.
Prenat Diagn
; 44(2): 187-195, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38056891
15.
The genetic etiologies of bilateral renal agenesis.
Prenat Diagn
; 44(2): 205-221, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38180355
16.
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
Prenat Diagn
; 44(2): 237-246, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37632214
17.
The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease.
Prenat Diagn
; 44(3): 343-351, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38285371
18.
A novel NONO nonsense variant in a fetus with renal abnormalities.
Prenat Diagn
; 44(1): 77-80, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38110236
19.
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.
J Am Soc Nephrol
; 34(2): 273-290, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36414417
20.
Fraser syndrome with limb reduction defect: a rare and unique anatomic variation.
Surg Radiol Anat
; 46(4): 501-506, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38310170