Félix Claverie-Martı́n - Publications, H-index & Citations

Félix Claverie-Martı́n

hospital universitario nuestra senora de candelaria

33H指数

96论文数

2.7K被引数

收录论文 21

发表时间

Identification of a Novel Homozygous SLC34A1 Missense Mutation and a Heterozygous SLC34A3 Deletion in an Infant with Nephrocalcinosis, Failure to Thrive, and Hypercalcemia 在一例伴有肾钙质沉着、发育迟缓和高钙血症的婴儿中鉴定出一个新型的SLC34A1错义纯合突变和一个SLC34A3杂合缺失。

International Journal of Molecular Sciences

IF4.9

2026-03-03

OAAI

Glorián Mura-Escorche; Leire C. García-Suarez; Isis Lebredo-Álvarez; Elena Ramos-Trujillo; Felix Claverie-Martin

Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay 致病性杂合TRPM7变异和发育延迟的低镁血症

CLINICAL KIDNEY JOURNAL

IF4.6

2024-07-05

OAAI

Bosman, Willem; Butler, Kameryn M.; Chang, Caitlin A.; Ganapathi, Mythily; Guzman, Edwin; Latta, Femke; Chung, Wendy K.; Claverie-Martin, Felix; Davis, Jessica M.; Hoenderop, Joost G. J.; de Baaij, Jeroen H. F.

Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants

SCIENTIFIC REPORTS

IF3.9

2024-03-22

OAAI

Bosman, Willem; Franken, Gijs A. C.; de las Heras, Javier; Madariaga, Leire; Barakat, Tahsin Stefan; Oostenbrink, Rianne; van Slegtenhorst, Marjon; Perdomo-Ramirez, Ana; Claverie-Martin, Felix; van Eerde, Albertien M.; Vargas-Poussou, Rosa; Dubourg, Laurence Derain; Gonzalez-Recio, Irene; Martinez-Cruz, Luis Alfonso; de Baaij, Jeroen H. F.; Hoenderop, Joost G. J.

Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease

BIOMEDICINES

IF3.9

2023-11-17

OAAI

Mura-Escorche, Glorian; Perdomo-Ramirez, Ana; Ramos-Trujillo, Elena; Trujillo-Frias, Carmen Jane; Claverie-Martin, Felix

Comment to Recommendation on an updated standardization of serum magnesium reference ranges

EUROPEAN JOURNAL OF NUTRITION

IF4.3

2022-09-27

PREAI

de Baaij, Jeroen H. F.; Bockenhauer, Detlef; Claverie-Martin, Felix; Hoenderop, Joost G. J.; Hoorn, Ewout J.; Houillier, Pascal; Knoers, Nine V. A. M.; Konrad, Martin; Muller, Dominik; Nijenhuis, Tom; Schlingmann, Karl Peter; Vargas Poussou, Rosa

The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)

HUMAN MUTATION

IF3.7

2021-03-01

OAAI

Franken, Gijs A. C.; Mueller, Dominik; Mignot, Cyril; Keren, Boris; Levy, Jonathan; Tabet, Anne-Claude; Germanaud, David; Tejada, Maria-Isabel; Kroes, Hester Y.; Nievelstein, Rutger A. J.; Brimble, Elise; Ruzhnikov, Maria; Claverie-Martin, Felix; Szczepanska, Maria; Cuk, Martin; Latta, Femke; Konrad, Martin; Martinez-Cruz, Luis A.; Bindels, Rene J. M.; Hoenderop, Joost G. J.; Schlingmann, Karl-Peter; de Baaij, Jeroen H. F.

URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia

CLINICA CHIMICA ACTA

IF2.9

2018-06-01

PREAI

Claverie-Martin, Felix; Trujillo-Suareza, Jorge; Gonzalez-Acostaa, Hilaria; Aparicio, Cristina; Justa Roldan, Maria L.; Stiburkova, Blanka; Ichida, Kimiyoshi; Martin-Gomez, Maria A.; Herrero Goni, Maria; Carrasco Hidalgo-Barquero, Marta; Inigo, Victoria; Enriquez, Ricardo; Cordoba-Lanus, Elizabeth; Garcia-Nieto, Victor M.

Structural Basis of the Oncogenic Interaction of Phosphatase PRL-1 with the Magnesium Transporter CNNM2

JOURNAL OF BIOLOGICAL CHEMISTRY

IF3.9

2017-01-01

OAAI

Gimenez-Mascarell, Paula; Oyenarte, Iker; Hardy, Serge; Breiderhoff, Tilman; Stuiver, Marchel; Kostantin, Elie; Diercks, Tammo; Pey, Angel L.; Ereno-Orbea, June; Luz Martinez-Chantar, Maria; Khalaf-Nazzal, Reham; Claverie-Martin, Felix; Mueller, Dominik; Tremblay, Michel L.; Alfonso Martinez-Cruz, Luis

Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease

RNA BIOLOGY

IF3.4

2015-03-11

OAAI

Claverie-Martin, Felix; Gonzalez-Paredes, Francisco J.; Ramos-Trujillo, Elena

Haplotype analysis of CLDN19 single nucleotide polymorphisms in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis 西班牙家族性低镁血症伴高钙尿症和肾钙沉着症患者CLDN19单核苷酸多态性的单倍型分析

WORLD JOURNAL OF PEDIATRICS

IF4.5

2014-11-20

PREAI

Martin-Nunez, Ernesto; Cordoba-Lanus, Elizabeth; Gonzalez-Acosta, Hilaria; Oliet, Aniana; Izquierdo, Elvira; Claverie-Martin, Felix

Clinical utility gene card for: familial hypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2014-09-03

OAAI

Claverie-Martin, Felix; Vargas-Poussou, Rosa; Mueller, Dominik; Garcia-Nieto, Victor

RenalTube: a network tool for clinical and genetic diagnosis of primary tubulopathies

EUROPEAN JOURNAL OF PEDIATRICS

IF2.6

2013-02-07

PREAI

Mejia, Natalia; Santos, Fernando; Claverie-Martin, Felix; Garcia-Nieto, Victor; Ariceta, Gema; Castano, Luis

The D84E variant of the α-MSH receptor 1 gene is associated with cutaneous malignant melanoma early onset

JOURNAL OF DERMATOLOGICAL SCIENCE

IF4

2008-12-01

PREAI

F-de-Misa, Ricardo; Gerardo Hernandez-Jimenez, Jose; Carretero Hernandez, Gregorio; Perez-Mendez, Lina; Aguirre-Jaime, Armando; Flores, Carlos; Suarez Hernandez, Jose; Perera Molinero, Antonio; Claverie-Martin, Felix

Main pigmentary features and melanocortin 1 receptor (MC1R) gene polymorphisms in the population of the Canary Islands

INTERNATIONAL JOURNAL OF DERMATOLOGY

IF3.2

2008-07-17

PREAI

de-Misa, Ricardo F. -; Perez-Mendez, Lina I.; Hernandez-Jimenez, Jose G.; Rodriguez, Maria del Cristo; Vilar, Maria Concepcion; Suarez, Jose; Claverie-Martin, Felix

Molecular cloning and expression in yeast of caprine prochymosin

JOURNAL OF BIOTECHNOLOGY

IF3.9

2004-10-01

PREAI

Vega-Hernánez, MC; Gómez-Coello, A; Villar, J; Claverie-Martín, F

A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2003-12-01

150

OAAI