Publications 

Claverie-Martin F, Trindade A, Garcia-Gonzalez NC, Callejon Callejon A. Novel missense mutation affecting the LIM-A domain of LMX1B in a family with Nail-Patella síndrome. Intractable & Rare Diseases Research. 2019; 8: 14-19. doi: 10.5582/irdr.2018.01131

Peris Vidal A, Marin Serra J, Lucas Sáez E, Ferrando Monleón S, Claverie-Martin F, Perdomo Ramírez A, Trujillo-Suarez J, Fons Moreno J. Hereditary renal hypouricemia type 1 and 2 in three spanish children. Revision of published pediatric cases. Nefrologia. 2019. doi: 10.1016/j.nefro.2018.08.010.

Perdomo-Ramirez A, de Armas-Ortiz M, Ramos-Trujillo E, Suarez-Artiles L, Claverie-Martin F. Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations. BMC Med Genet. 2019; 20(1):6. doi:10.1186/s12881-018-0713-7.

Perdomo-Ramirez A, Aguirre M, Davitaia T, Ariceta G, Ramos-Trujillo E; RenalTube Group, Claverie-Martin F. Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Gene. 2018; 689: 227-234. doi:10.1016/j.gene.2018.12.024.

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; RenalTube Group. URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia. Clin Chim Acta. 2018; 481:83-89. doi: 10.1016/j.cca.2018.02.030.

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; 4:9(1). pii: E15. doi: 10.3390/genes9010015.

Stiburkova B, Gabrikova D, Čepek P, Šimek P, Kristian P, Cordoba-Lanus E, Claverie-Martin F. Prevalence of URAT1 allelic variants in the Roma population. Nucleosides Nucleotides Nucleic Acids. 2016; 35(10-12): 529-535.

Giménez-Mascarell P, Oyenarte I, Hardy S, Breiderhoff T, Stuiver M, Kostantin E, Diercks T, Pey AL, Ereño-Orbea J, Martínez-Chantar ML, Khalaf-Nazzal R, Claverie-Martin F, Müller D, Tremblay ML, Martínez-Cruz LA. Structural Basis of the Oncogenic Interaction of Phosphatase PRL-1 with the Magnesium Transporter CNNM2. J Biol Chem. 2017; 292(3): 786-801. doi: 10.1074/jbc.M116.759944.

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. 2016; 578(1): 117-123. doi:10.1016/j.gene.2015.12.019.

Claverie-Martin F. Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics. Clin Kidney J. 2015; 8(6): 656-64. doi: 10.1093/ckj/sfv081.

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(4): 369-374. doi:10.1080/15476286.2015.1014291.

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(3):272-275. doi: 10.1007/s12519-014-0528-3.

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(6). doi: 10.1038/ejhg.2014.176.

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(2): 243-249. doi: 10.1016/j.gene.2014.06.004.

García-Nieto VM, Claverie-Martín F, Loris-Pablo C. [Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis. Its history]. Nefrologia. 2014; 34(1): 5-10. doi: 10.3265/Nefrologia.pre2013.Nov.12230.

Ramos-Trujillo E, Claverie-Martin F, Garcia-Nieto V, Ariceta G, Vara J, Gonzalez-Acosta H, Garcia-Ramirez M, Fons J, Cordoba-Lanus E, Gonzalez-Paredes J, Valenciano B, Ramos L, Muley R, Caggiani M, Alvarez-Estrada P, Madrid A; RenalTube Group. Dent’s disease: Identification of seven new pathogenic mutations in the CLCN5 gene. J Pediatr Genet. 2013; 2(3): 133-140. doi: 10.3233/PGE-13061.

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(6): 775-780. doi: 10.1007/s00431-013-1934-6.

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. PLoS One. 2013; 8(1):e53151. doi: 10.1371/journal.pone.0053151.

de Pablos AL, García-Nieto V, López-Menchero JC, Ramos-Trujillo E, González-Acosta H, Claverie-Martín F. Severe manifestation of Bartter síndrome Type IV caused by a novel insertion mutation in the BSND gene. Clin Nephrol. 2014; 81(5): 363-368. doi: 10.5414/CN107687.

Claverie-Martín F, Ramos-Trujillo E, García-Nieto V. Dent’s disease: clinical features and molecular basis. Pediatr Nephrol. 2011; 26(5): 693-704. doi: 10.1007/s00467-010-1657-0.

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(6): 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(3): 255-261.

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(5): 643-648.

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.

Claverie-Martín F, Flores C, Antón-Gamero M, González-Acosta H, García-Nieto  V. The Alu insertion in the CLCN5 gene of a patient with Dent’s disease leads to  exon 11 skipping. J Hum Genet. 2005; 50(7): 370-374.

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(8):1198-1199. doi: 10.1007/s00467-005-1875-z

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(6):504-509.

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(6): 1293-1301.

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(6): 480-485.

Carballo-Trujillo I, Garcia-Nieto V, Moya-Angeler FJ, Antón-Gamero M, Loris C, Méndez-Alvarez S, Claverie-Martin F. Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent’s disease. Nephrol Dial Transplant. 2003; 18(4):717-723.