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1.
Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome.
J Am Soc Nephrol
; 34(2): 333-345, 2023 02 01.
Article
in English
| MEDLINE | ID: mdl-36302598
2.
Possible role for rare TRPM7 variants in patients with hypomagnesaemia with secondary hypocalcaemia.
Nephrol Dial Transplant
; 38(3): 679-690, 2023 02 28.
Article
in English
| MEDLINE | ID: mdl-35561741
3.
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.
J Am Soc Nephrol
; 33(2): 305-325, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34607911
4.
Calcium pyrophosphate crystal deposition in a cohort of 57 patients with Gitelman syndrome.
Rheumatology (Oxford)
; 61(6): 2494-2503, 2022 05 30.
Article
in English
| MEDLINE | ID: mdl-34508565
5.
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice.
Nephrol Dial Transplant
; 37(2): 239-254, 2022 01 25.
Article
in English
| MEDLINE | ID: mdl-34264297
6.
Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study.
Nephrol Dial Transplant
; 37(12): 2474-2486, 2022 11 23.
Article
in English
| MEDLINE | ID: mdl-35137195
7.
Pathophysiological aspects of the thick ascending limb and novel genetic defects: HELIX syndrome and transient antenatal Bartter syndrome.
Pediatr Nephrol
; 37(2): 239-252, 2022 02.
Article
in English
| MEDLINE | ID: mdl-33733301
8.
Prenatal bone abnormalities in three cases of familial hypocalciuric hypercalcemia.
Prenat Diagn
; 42(5): 583-588, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35301736
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.
Article
in English
| MEDLINE | ID: mdl-33811157
10.
mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.
J Am Soc Nephrol
; 32(11): 2885-2899, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34607910
11.
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.
Article
in English
| MEDLINE | ID: mdl-33600050
12.
New insights into the role of endoplasmic reticulum-associated degradation in Bartter Syndrome Type 1.
Hum Mutat
; 42(8): 947-968, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33973684
13.
Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders.
Kidney Int
; 99(2): 324-335, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33509356
14.
Distal renal tubular acidosis: ERKNet/ESPN clinical practice points.
Nephrol Dial Transplant
; 36(9): 1585-1596, 2021 08 27.
Article
in English
| MEDLINE | ID: mdl-33914889
15.
Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients.
Clin Endocrinol (Oxf)
; 93(3): 248-260, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32347971
16.
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.
Article
in English
| MEDLINE | ID: mdl-31285285
17.
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.
Kidney Int
; 96(6): 1408-1416, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31672324
18.
Treatment and long-term outcome in primary distal renal tubular acidosis.
Nephrol Dial Transplant
; 34(6): 981-991, 2019 06 01.
Article
in English
| MEDLINE | ID: mdl-30773598
19.
Genome-Wide Meta-Analysis Unravels Interactions between Magnesium Homeostasis and Metabolic Phenotypes.
J Am Soc Nephrol
; 29(1): 335-348, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29093028
20.
A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification.
Hum Mutat
; 39(8): 1139-1149, 2018 08.
Article
in English
| MEDLINE | ID: mdl-29791050