Detalhe da pesquisa
1.
Noncoding deletions reveal a gene that is critical for intestinal function.
Nature
; 571(7763): 107-111, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31217582
2.
A Neanderthal haplotype introgressed into the human genome confers protection against membranous nephropathy.
Kidney Int
; 105(4): 791-798, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38367960
3.
Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.
Hum Genet
; 142(5): 697-704, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36773065
4.
Shared genetic risk across different presentations of gene test-negative idiopathic nephrotic syndrome.
Pediatr Nephrol
; 38(6): 1793-1800, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36357634
5.
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Proc Natl Acad Sci U S A
; 117(26): 15137-15147, 2020 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32554502
6.
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
7.
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
J Am Soc Nephrol
; 33(4): 732-745, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35149593
8.
Identification of a novel genetic locus associated with immune-mediated thrombotic thrombocytopenic purpura.
Haematologica
; 107(3): 574-582, 2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33596643
9.
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
J Am Soc Nephrol
; 32(6): 1498-1512, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811157
10.
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.
Am J Hum Genet
; 103(5): 808-816, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30388404
11.
Tubulopathy meets Sherlock Holmes: biochemical fingerprinting of disorders of altered kidney tubular salt handling.
Pediatr Nephrol
; 36(8): 2553-2561, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34143300
12.
Novel insights in the genetics of steroid-sensitive nephrotic syndrome in childhood.
Pediatr Nephrol
; 36(8): 2165-2175, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33084934
13.
Bartter and Gitelman syndromes: Questions of class.
Pediatr Nephrol
; 35(10): 1815-1824, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31664557
14.
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
15.
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.
Kidney Int
; 96(6): 1408-1416, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31672324
16.
Zebrafish as a model for kidney function and disease.
Pediatr Nephrol
; 34(5): 751-762, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29502161
17.
Salt-Losing Tubulopathies in Children: What's New, What's Controversial?
J Am Soc Nephrol
; 29(3): 727-739, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29237739
18.
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.
J Am Soc Nephrol
; 29(3): 1041-1048, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29242249
19.
OVAS: an open-source variant analysis suite with inheritance modelling.
BMC Bioinformatics
; 19(1): 46, 2018 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29422027
20.
Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.
Kidney Int
; 93(4): 961-967, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29398133