Felix Claverie-Martin
Overview
Explore the profile of Felix Claverie-Martin including associated specialties, affiliations and a list of published articles.
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Articles
55
Citations
521
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Recent Articles
1.
Perdomo-Ramirez A, Ramos-Trujillo E, Machado J, Garcia-Nieto V, Mura-Escorche G, Claverie-Martin F
Int J Mol Sci
. 2024 Aug;
25(15).
PMID: 39125679
Dent disease-1 (DD-1) is a rare X-linked tubular disorder characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and nephrocalcinosis. This disease is caused by inactivating mutations in the gene which encodes...
2.
Bosman W, Butler K, Chang C, Ganapathi M, Guzman E, Latta F, et al.
Clin Kidney J
. 2024 Aug;
17(8):sfae211.
PMID: 39099563
Background: Heterozygous variants in (), encoding an essential and ubiquitously expressed cation channel, may cause hypomagnesemia, but current evidence is insufficient to draw definite conclusions and it is unclear whether...
3.
Bosman W, Franken G, de Las Heras J, Madariaga L, Barakat T, Oostenbrink R, et al.
Sci Rep
. 2024 Mar;
14(1):6917.
PMID: 38519529
Variants in the CNNM2 gene are causative for hypomagnesaemia, seizures and intellectual disability, although the phenotypes can be variable. This study aims to understand the genotype-phenotype relationship in affected individuals...
4.
Garcia-Nieto V, Claverie-Martin F, Moraleda-Mesa T, Perdomo-Ramirez A, Fraga-Rodriguez G, Luis-Yanes M, et al.
Nefrologia (Engl Ed)
. 2024 Feb;
44(1):23-31.
PMID: 38350738
Renal diseases associated with hypomagnesemia are a complex and diverse group of tubulopathies caused by mutations in genes encoding proteins that are expressed in the thick ascending limb of the...
5.
Mura-Escorche G, Perdomo-Ramirez A, Ramos-Trujillo E, Trujillo-Frias C, Claverie-Martin F
Biomedicines
. 2023 Nov;
11(11).
PMID: 38002082
Dent disease (DD) is an X-linked renal tubulopathy characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure. Two-thirds of cases are associated with inactivating variants in the gene...
6.
Perdomo-Ramirez A, Ramos-Trujillo E, Claverie-Martin F
Genes (Basel)
. 2023 Sep;
14(9).
PMID: 37761963
Renal hypouricemia (RHUC) is a rare hereditary disorder caused by loss-of-function mutations in the (RHUC type 1) or (RHUC type 2) genes, encoding urate transporters URAT1 and GLUT9, respectively, that...
7.
Perdomo-Ramirez A, Cordoba-Lanus E, Trujillo-Frias C, Gonzalez-Navasa C, Ramos-Trujillo E, Luis-Yanes M, et al.
Int J Mol Sci
. 2023 May;
24(9).
PMID: 37176161
Renal hypouricemia (RHUC) is a rare inherited disorder characterized by impaired urate reabsorption in the proximal tubule resulting in low urate serum levels and increased urate excretion. Some patients may...
8.
Garcia-Nieto V, Claverie-Martin F, Moraleda-Mesa T, Perdomo-Ramirez A, Tejera-Carreno P, Cordoba-Lanus E, et al.
Nefrologia (Engl Ed)
. 2022 Oct;
42(3):273-279.
PMID: 36210617
Gout is recurrent inflammatory arthritis caused by the deposition of monosodium urate crystals in the joints. The risk factors that predispose to suffering from gout include non-modifiable factors such as...
9.
de Baaij J, Bockenhauer D, Claverie-Martin F, Hoenderop J, Hoorn E, Houillier P, et al.
Eur J Nutr
. 2022 Sep;
61(8):4231-4233.
PMID: 36168067
No abstract available.
10.
Vargas-Poussou R, Claverie-Martin F, Prot-Bertoye C, Carotti V, van der Wijst J, Perdomo-Ramirez A, et al.
Nephrol Dial Transplant
. 2022 May;
38(3):679-690.
PMID: 35561741
Background: Hypomagnesaemia with secondary hypocal-caemia (HSH) is a rare autosomal recessive disorder caused by pathogenic variants in TRPM6, encoding the channel-kinase transient receptor potential melastatin type 6. Patients have very...