Detalhe da pesquisa
1.
Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.
Mol Genet Genomics
; 299(1): 44, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38625590
2.
Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome.
J Am Soc Nephrol
; 34(2): 333-345, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36302598
3.
New advances in endocrine hypertension: from genes to biomarkers.
Kidney Int
; 103(3): 485-500, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36646167
4.
Possible role for rare TRPM7 variants in patients with hypomagnesaemia with secondary hypocalcaemia.
Nephrol Dial Transplant
; 38(3): 679-690, 2023 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35561741
5.
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
6.
Prenatal bone abnormalities in three cases of familial hypocalciuric hypercalcemia.
Prenat Diagn
; 42(5): 583-588, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35301736
7.
Diversity of functional alterations of the ClC-5 exchanger in the region of the proton glutamate in patients with Dent disease 1.
Hum Mutat
; 42(5): 537-550, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33600050
8.
Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients.
Clin Endocrinol (Oxf)
; 93(3): 248-260, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32347971
9.
Resistance to Insulin in Patients with Gitelman Syndrome and a Subtle Intermediate Phenotype in Heterozygous Carriers: A Cross-Sectional Study.
J Am Soc Nephrol
; 30(8): 1534-1545, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31285285
10.
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
11.
SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects.
Prenat Diagn
; 39(11): 1026-1034, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31299102
12.
Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France.
Prenat Diagn
; 39(6): 464-470, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30896039
13.
Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations.
Pediatr Nephrol
; 33(10): 1723-1729, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29959532
14.
The Case | Severe hypertension and hyperkalemia in a kidney transplant recipient.
Kidney Int
; 96(2): 529-530, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31331484
15.
Genetic basis of nephrogenic diabetes insipidus.
Mol Cell Endocrinol
; 560: 111825, 2023 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36460218
16.
Mechanisms of paracellular transport of magnesium in intestinal and renal epithelia.
Ann N Y Acad Sci
; 1521(1): 14-31, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36622354
17.
[Major advances in pediatric nephro-genetics]. / Les grandes avancées en néphro-génétique pédiatrique.
Med Sci (Paris)
; 39(3): 234-245, 2023 Mar.
Artigo
em Francês
| MEDLINE | ID: mdl-36943120
18.
Relationship between clinical phenotype and in vitro analysis of 13 NPT2c/SCL34A3 mutants.
Sci Rep
; 13(1): 85, 2023 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36596813
19.
Clinical Findings and Genetic Analysis of Nine Mexican Families with Bartter Syndrome.
Arch Med Res
; 54(6): 102859, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37516009
20.
The variety of genetic defects explains the phenotypic heterogeneity of Familial Hyperkalemic Hypertension.
Kidney Int Rep
; 6(10): 2639-2652, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34622103