Detalhe da pesquisa
1.
Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.
Pediatr Nephrol
; 39(2): 455-461, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37670083
2.
Insight into prevalence, etiology, and modalities of pediatric chronic dialysis: a comprehensive nationwide analysis.
Pediatr Nephrol
; 39(5): 1559-1566, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38091245
3.
Recessive CHRM5 variant as a potential cause of neurogenic bladder.
Am J Med Genet A
; 191(8): 2083-2091, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37213061
4.
Clinical and molecular characterization of a large primary hyperoxaluria cohort from Saudi Arabia: a retrospective study.
Pediatr Nephrol
; 38(6): 1801-1810, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36409364
5.
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations.
Am J Hum Genet
; 105(6): 1286-1293, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31708116
6.
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
7.
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.
Am J Med Genet A
; 188(5): 1355-1367, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35040250
8.
Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study.
Nephrol Dial Transplant
; 37(12): 2474-2486, 2022 11 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35137195
9.
Mortality in Children Treated With Maintenance Peritoneal Dialysis: Findings From the International Pediatric Peritoneal Dialysis Network Registry.
Am J Kidney Dis
; 78(3): 380-390, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33549627
10.
Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia.
Am J Med Genet A
; 185(10): 3005-3011, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34145744
11.
Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans.
Nephrol Dial Transplant
; 36(2): 237-246, 2021 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33097957
12.
Incidence and Outcome of Community-Acquired Acute Kidney Injury in Pediatric Patients Seen at an Emergency Department: A Retrospective Cohort Study.
Pediatr Emerg Care
; 37(12): e1429-e1433, 2021 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32118838
13.
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT).
Genet Med
; 22(10): 1673-1681, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32475988
14.
Rituximab versus cyclophosphamide as first steroid-sparing agent in childhood frequently relapsing and steroid-dependent nephrotic syndrome.
Pediatr Nephrol
; 35(8): 1445-1453, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32337638
15.
Correction to: Short-term outcome associated with disease severity and electrolyte abnormalities among critically ill children with acute kidney injury.
BMC Nephrol
; 21(1): 137, 2020 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32299381
16.
Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.
J Am Soc Nephrol
; 30(8): 1375-1384, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31263063
17.
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.
Hum Genet
; 138(10): 1105-1115, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230195
18.
Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome.
Nephrol Dial Transplant
; 34(3): 485-493, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29534211
19.
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
20.
Short-term outcome associated with disease severity and electrolyte abnormalities among critically ill children with acute kidney injury.
BMC Nephrol
; 20(1): 89, 2019 03 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30866849