Detalhe da pesquisa
1.
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Hum Mutat
; 43(6): 717-733, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35178824
2.
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.
Nephrol Dial Transplant
; 37(4): 687-696, 2022 03 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33532864
3.
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
Am J Kidney Dis
; 78(4): 560-570.e1, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33838161
4.
De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.
Int J Mol Sci
; 22(4)2021 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33557041
5.
A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.
Kidney Int
; 94(2): 363-371, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29801666
6.
Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1.
Am J Kidney Dis
; 72(3): 411-418, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29784615
7.
Autosomal Dominant Polycystic Kidney Disease: Clinical Assessment of Rapid Progression.
Am J Nephrol
; 48(4): 308-317, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30347391
8.
Contribution of the TTC21B gene to glomerular and cystic kidney diseases.
Nephrol Dial Transplant
; 32(1): 151-156, 2017 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26940125
9.
Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated.
BMC Med Genet
; 16: 39, 2015 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26077033
10.
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Genome Med
; 15(1): 68, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37679823
11.
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
J Mol Diagn
; 24(5): 529-542, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35569879
12.
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.
J Mol Diagn
; 22(9): 1205-1215, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32619640
13.
MYH9 Associated nephropathy. / Nefropatía asociada a mutación del gen MYH9.
Nefrologia (Engl Ed)
; 39(2): 133-140, 2019.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-30471777
14.
Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS).
Stem Cell Res
; 25: 1-5, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29246570
15.
Generation of integration-free induced pluripotent stem cell lines derived from two patients with X-linked Alport syndrome (XLAS).
Stem Cell Res
; 25: 291-295, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29150092
16.
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.
Eur J Hum Genet
; 23(9): 1192-9, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25407002
17.
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.
Mol Genet Genomic Med
; 2(5): 412-21, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25333066
18.
HLA-DQA1 and PLA2R1 polymorphisms and risk of idiopathic membranous nephropathy.
Clin J Am Soc Nephrol
; 9(2): 335-43, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24262501
19.
Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.
Clin J Am Soc Nephrol
; 6(5): 1139-48, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21415313