PUBLICATIONS
Claverie-Martin F, Trujillo-Suarez J, Gonzalez-Acosta H, Aparicio C, Justa Roldan ML, Stiburkova B, Ichida K, Martín-Gomez MA, Herrero Goñi M, Carrasco Hidalgo-Barquero M, Iñigo V, Enriquez R, Cordoba-Lanus E, Garcia-Nieto VM, and the RenalTube Group.
URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia.
(2018, under review)
Suarez-Artiles L, Perdomo-Ramirez A, Ramos-Trujillo E, Claverie-Martin F.
Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2
Disease. Genes (Basel). 2018 Jan 4;9(1). pii: E15. doi: 10.3390/genes9010015.
Paula Giménez-Mascarell, Iker Oyenarte, Serge Hardyb, Tilman Breiderhoff, Marchel Stuiver, Elie Kostantin, Tammo Diercks, June Ereño-Orbea, María Luz Martínez-Chantar, Reham Khalaf-Nazzal, Felix Claverie-Martín, Dominik Müller, Michel L. Tremblay and Luis Alfonso Martínez-Cruz.
Structural basis of the oncogenic interaction of PRL-1 with the magnesium transporter CNNM2.
J Biol Chem J Biol Chem. 2016 Nov 29. pii: jbc.M116.759944.
Blanka Stiburkova, Dana Gabrikova, Pavel Čepek, Pavel Šimek, Pavol Kristian, Elizabeth Cordoba-Lanus & Felix Claverie-Martin
Prevalence of URAT1 allelic variants in the Roma population.
35:10-12,529-535, DOI: 10.1080/15257770.2016.1168839
Gonzalez-Paredes FJ, Ramos-Trujillo E, Claverie-Martin F.
Three exonic mutations in polycystic kidney disease-2 gene (PKD2) alter splicing of its pre-mRNA in a minigene system.
Gene (Accepted December 7th, 2015). DOI: gene 10.1016/j.gene.2015.12.019
Claverie-Martin F, Gonzalez-Paredes FJ, Ramos-Trujillo E.
Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease.
RNA Biol. 2015; 12:369-374.
Martin-Nuñez E, Cordoba-Lanus E, Gonzalez-Acosta H, Oliet A, Izquierdo E, Claverie-Martin F.
Haplotype analysis of CLDN19 single nucleotide polymorphisms in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
World J Pediatr. 2015; 11:272-275.
Gonzalez-Paredes FJ, Ramos-Trujillo E, Claverie-Martin F.
Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease.
Gene. 2014; 546:243-249.
Mejía N, Santos F, Claverie-Martín F, García-Nieto V, Ariceta G, Castaño L; RenalTube group.
RenalTube: a network tool for clinical and genetic diagnosis of primary tubulopathies.
Eur J Pediatr. 2013; 172:775-780.
Claverie-Martín F, Vargas-Poussou R, Müller D, García-Nieto V.
Clinical utility gene card for: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement.
Eur J Hum Genet. 2015; 23 doi: 10.1038/ejhg.2014.176.
García-Nieto VM, Claverie-Martín F, Loris-Pablo C.
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis. Its history. Nefrologia.
Nefrologia. 2014; 34:5-10.
Claverie-Martín F, García-Nieto V, Loris C, Ariceta G, Nadal I, Espinosa L, Fernández-Maseda Á, Antón-Gamero M, Avila A, Madrid Á, González-Acosta H, Córdoba-Lanus E, Santos F, Gil-Calvo M, Espino M, García-Martinez E, Sanchez A, Muley R; RenalTube Group.
Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Ramos-Trujillo E, Claverie-Martin F, García-Nieto V, Ariceta G, Vara J, Gonzalez-Acosta H, Garcia-Ramirez M, Fons J, Cordoba-Lanus E, González-Paredes FJ, Valenciano B, Ramos L, Muley R, Caggiani M, Alvarez-Estrada P, Madrid A, for the RenalTube Group.
Dent’s disease: Identification of eight new mutations in the CLCN5 gene.
J Pediatric Genetics 2013; 2:133-140. Doi: 10.3233/PGE-13061.
García Nieto V, Luis Yanes MI, Claverie Martín F.
Síndrome de Bartter y enfermedades afines.
Nefrología Sup Ext 2. 2011; doi:10.3265
Claverie-Martín F, Ramos-Trujillo E.
Estudios genéticos.
In Manual de Nefrología Pediátrica. Editorial Medica Panamericana. 2010; pp. 89-94
Claverie-Martín F, Ramos-Trujillo E, García-Nieto V.
Dent's disease: clinical features and molecular basis.
Pediatr Nephrol. 2011; 26:693-704.
Claverie-Martín F, Ramos-Trujillo E, González-Paredes, FJ
Técnicas para el diagnóstico molecular de enfermedades hereditarias
Bol Pediatr. 2008; 48:235-241.
F-de-Misa R, Hernández-Jimenez JG, Carretero Hernández G, Pérez-Méndez L, Aguirre-Jaime A, Flores C, Suárez Hernández J, Perera Molinero A, Claveríe-Martín F.
The D84E variant of the alpha-MSH receptor 1 gene is associated with cutaneous malignant melanoma early onset.
Ramos-Trujillo E, Garcia-Nieto V, Gonzalez-Acosta H, Vara J, Pérez-Diaz V, Nadal I, Oliveros R, Claverie-Martin F.
Molecular analysis of the CLCN5 gene in Dent's disease: first mutation identified in a patient from South America.
Clin Nephrol. 2007; 68:367-372.
Ramos-Trujillo E, González-Acosta H, Flores C, García-Nieto V, Guillén E, Gracia S, Vicente C, Espinosa L, Maseda MA, Santos F, Camacho JA, Claverie-Martín F.
A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease.
J Hum Genet. 2007; 52:255-261.
García Nieto V, Claverie-Martin F.
Urolithiasis, idiopathic hypercalciuria and insularity.
Pediatr Nephrol. 2006; 21:1331-1332.
Claverie-Martín F, Vega-Hernández MC.
Aspartic porteases involved in milk-clotting.
In “Industrial Ezyimes: Structure, Function and Applications”. Ed.: J. Polaina and A.P. MacCabe. Ed. Springer. 2006; pp. 207-219.
García-Nieto V, Flores C, Luis-Yanes MI, Gallego E, Villar J, Claverie-Martín F.
Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families.
Pediatr Nephrol. 2006; 21:643-648. Bol Pediatr. 2008; 48:235-241.
Claverie-Martín, F., García- Nieto V.
Enfermedad de Dent.
In “Nefrología Pediátrica”. 2ª Edición. Editores: V. García Vieto, F. Santos, B. Rodríguez-Iturbe. Ed. Grupo Aula Médica Madrid. 2006; pp. 135-149.
García Nieto V, Claverie-Martín F.
Bartter disease with neurosensitive deafness (Bartter type IV). A clinical entity described 10 years ago.
Nefrologia. 2005; 25:596-601.
Antón-Gamero M, Claverie-Martín F, García-Nieto V, Vela-Enríquez F, García-Martínez E, Pérez-Navero JL.
Chloride and sodium renal tubular handling in Dent's disease.
Pediatr Nephrol. 2005 ;20:1198-1199.
Vega-Hernández MC, Gómez-Coello A, Villar J, Claverie-Martín F.
Molecular cloning and expression in yeast of caprine prochymosin.
Lorenzo-Díaz F, Delgado T, Reyes-Darias JA, Flores C, Méndez-Alvarez S, Villar J, Sierra A, Claverie-Martín F.
Characterization of the first VanB vancomycin-resistant Enterococcus faecium isolated in a Spanish hospital.
García Nieto V, Cantabrana A, Müller D, Claverie-Martín F.
Chondrocalcinosis and hypomagnesaemia in a patient with a new mutation in the gene of the thiazide-sensitive Na-Cl cotransporter.
Nefrologia. 2003; 23:504-509.
Pubmed
Martín-López JV, Díez-Gil O, Morales M, Batista N, Villar J, Claverie-Martín F, Méndez-Alvarez S.
Simultaneous PCR detection of ica cluster and methicillin and mupirocin resistance genes in catheter-isolated Staphylococcus.
Int Microbiol. 2004;7:63-66. PubMed PMID: 15179609.
Müller D, Kausalya PJ, Claverie-Martin F, Meij IC, Eggert P, Garcia-Nieto V, Hunziker W.
A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting.
Am J Hum Genet. 2003 ;73:1293-1301.
García Nieto V, Claverie-Martín F.
Dent disease. History and genetic causes of a new tubulopathy.
Nefrologia. 2003; 23:195-199.
Claverie-Martin F, González-Acosta H, Flores C, Antón-Gamero M, García-Nieto V.
De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease.
Hum Genet. 2003; 113: 480-485.
Curr Microbiol. 2004; 48:199-203.
Ramos-Trujillo E, Pérez-Roth E, Méndez-Alvarez S, Claverie-Martín F.
Multiplex PCR for simultaneous detection of enterococcal genes vanA and vanB and staphylococcal genes mecA, ileS-2 and femB.
Int Microbiol. 2003; 6:113-115.