Detalhe da pesquisa
1.
Epidemiology and outcomes of pediatric autosomal recessive polycystic kidney disease in the Middle East and North Africa.
Pediatr Nephrol
; 2024 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38261064
2.
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.
Am J Hum Genet
; 107(6): 1113-1128, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33232676
3.
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.
Genet Med
; 24(2): 307-318, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906515
4.
Clinical and neurophysiological characterization of early neuromuscular involvement in children and adolescents with nephropathic cystinosis.
Pediatr Nephrol
; 37(7): 1555-1566, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34791528
5.
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome.
J Am Soc Nephrol
; 32(3): 580-596, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33593823
6.
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.
J Allergy Clin Immunol
; 148(2): 381-393, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33872655
7.
Subtle cardiac dysfunction in nephropathic cystinosis: insight from tissue Doppler imaging and 2D speckle tracking echocardiography.
Pediatr Nephrol
; 35(12): 2307-2317, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32666370
8.
Treatment and long-term outcome in primary distal renal tubular acidosis.
Nephrol Dial Transplant
; 34(6): 981-991, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773598
9.
Management of bone disease in cystinosis: Statement from an international conference.
J Inherit Metab Dis
; 42(5): 1019-1029, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31177550
10.
Combined liver-kidney transplantation for primary hyperoxaluria type I in children: Single Center Experience.
Pediatr Transplant
; 23(1): e13313, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30475440
11.
Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.
Pediatr Nephrol
; 34(9): 1607-1613, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31001663
12.
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
J Am Soc Nephrol
; 29(9): 2348-2361, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30143558
13.
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
Kidney Int
; 93(1): 204-213, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28893421
14.
Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease.
J Pediatr
; 199: 22-28.e6, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29753540
15.
Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract.
J Am Soc Nephrol
; 28(1): 69-75, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27151922
16.
Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature.
Am J Med Genet A
; 173(10): 2697-2702, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28815891
17.
Endemic bladder calculi in children.
Pediatr Nephrol
; 32(9): 1489-1499, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27848095
18.
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.
J Med Genet
; 53(3): 208-14, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26673778
19.
Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.
Kidney Int
; 89(6): 1192-203, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27181776
20.
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.
Kidney Int
; 89(2): 468-475, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26489029