Detalhe da pesquisa
1.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(1): 96-118, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38181735
2.
Mutations of the histone linker H1-4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4.
Hum Mol Genet
; 31(9): 1430-1442, 2022 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34788807
3.
Variants in genes coding for collagen type IV α-chains are frequent causes of persistent, isolated hematuria during childhood.
Pediatr Nephrol
; 38(3): 687-695, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35759000
4.
Genetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic.
Am J Med Genet C Semin Med Genet
; 190(3): 302-308, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36239278
5.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(4): 805, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38508193
6.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38723631
7.
Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.
Genet Med
; 22(4): 821, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31857706
8.
Nephronophthisis due to a novel DCDC2 variant in a patient from African-Caribbean descent: A case report.
Am J Med Genet A
; 182(3): 527-531, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31821705
9.
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.
Genet Med
; 21(12): 2755-2764, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31263215
10.
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
Genet Med
; 19(4): 412-420, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27657687
11.
Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities.
EBioMedicine
; 99: 104940, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38154379
12.
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
13.
Disease modeling of ADAMTS9-related nephropathy using kidney organoids reveals its roles in tubular cells and podocytes.
Front Med (Lausanne)
; 10: 1089159, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37035301
14.
Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.
medRxiv
; 2023 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37034625
15.
Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases.
Kidney360
; 2(1): 90-104, 2021 01 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35368817
16.
Characterization of the renal phenotype in RMND1-related mitochondrial disease.
Mol Genet Genomic Med
; 7(12): e973, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31568715