Detalhe da pesquisa
1.
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.
J Am Soc Nephrol
; 34(2): 273-290, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36414417
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.
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
Am J Hum Genet
; 107(4): 727-742, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32891193
4.
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
5.
Proteomic analysis identifies ZMYM2 as endogenous binding partner of TBX18 protein in 293 and A549 cells.
Biochem J
; 479(1): 91-109, 2022 01 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34935912
6.
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract American Journal of Medical Genetics Part C.
Am J Med Genet C Semin Med Genet
; 190(3): 325-343, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36208064
7.
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
8.
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
9.
A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract.
Am J Med Genet A
; 188(1): 310-313, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34525250
10.
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
11.
Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract.
Nephrol Dial Transplant
; 37(10): 1833-1843, 2022 09 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34473308
12.
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.
Am J Med Genet A
; 185(12): 3784-3792, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34338422
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.
Utility of Genomic Testing after Renal Biopsy.
Am J Nephrol
; 51(1): 43-53, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31822006
15.
Personalized medicine in chronic kidney disease by detection of monogenic mutations.
Nephrol Dial Transplant
; 35(3): 390-397, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30809662
16.
Renal transplant outcomes in patients with autosomal dominant tubulointerstitial kidney disease.
Clin Transplant
; 34(2): e13783, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31958169
17.
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.
J Am Soc Nephrol
; 30(2): 201-215, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30655312
18.
Monogenic causes of chronic kidney disease in adults.
Kidney Int
; 95(4): 914-928, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773290
19.
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
20.
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.
J Am Soc Nephrol
; 29(9): 2418-2431, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29967284