Detalhe da pesquisa
1.
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.
J Am Soc Nephrol
; 33(2): 305-325, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34607911
2.
Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups.
Am J Med Genet C Semin Med Genet
; 190(3): 358-376, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36161467
3.
Genetics-first approach improves diagnostics of ESKD patients <50 years old.
Nephrol Dial Transplant
; 37(2): 349-357, 2022 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33306124
4.
An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International.
Nephrol Dial Transplant
; 37(5): 825-839, 2022 04 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35134221
5.
The term CAKUT has outlived its usefulness: the case for the defense.
Pediatr Nephrol
; 37(11): 2793-2798, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35867161
6.
mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.
J Am Soc Nephrol
; 32(11): 2885-2899, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34607910
7.
Impact of next generation sequencing on our understanding of CAKUT.
Semin Cell Dev Biol
; 91: 104-110, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30172048
8.
Behavioral and cognitive functioning in individuals with Cantú syndrome.
Am J Med Genet A
; 185(8): 2434-2444, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34056838
9.
Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa.
Int J Mol Sci
; 22(22)2021 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34830104
10.
Three-dimensional facial morphology in Cantú syndrome.
Am J Med Genet A
; 182(5): 1041-1052, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32100467
11.
Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing.
J Med Genet
; 56(2): 75-80, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30368457
12.
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.
Am J Med Genet C Semin Med Genet
; 181(4): 658-681, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31828977
13.
Recommendations on single-cell RNA sequencing of skin xenografts in the study of genetic skin diseases.
Exp Dermatol
; 33(2): e15036, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38389155
14.
Outcomes and comorbidities of SCN1A-related seizure disorders.
Epilepsy Behav
; 90: 252-259, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30527252
15.
Genetic obesity: next-generation sequencing results of 1230 patients with obesity.
J Med Genet
; 55(9): 578-586, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29970488
16.
NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD.
J Am Soc Nephrol
; 29(6): 1772-1779, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29654215
17.
Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family.
Kidney Int
; 103(5): 986-989, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37085259
18.
Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT).
Kidney Int
; 93(5): 1142-1153, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29459093
19.
Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A-related seizure phenotypes.
Epilepsia
; 59(6): 1154-1165, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29750338
20.
Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.
Epilepsia
; 59(3): 690-703, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29460957