Perdomo-Ramirez A, Cordoba-Lanus E, Trujillo-Frias CJ, Gonzalez-Navasa C, Ramos-Trujillo E, Luis-Yanes MI, Garcia-Nieto V, Claverie-Martin F; RenalTube. Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M). Int J Mol Sci. 2023 May 8;24(9):8455. doi:10.3390/ijms24098455.

de Baaij JHF, Bockenhauer D, Claverie-Martin F, Hoenderop JGJ, Hoorn EJ, Houillier P, Knoers NVAM, Konrad M, Müller D, Nijenhuis T, Schlingmann KP, Vargas Poussou R. Comment to «Recommendation on an updated standardization of serum magnesium reference ranges». Eur J Nutr. 2022 Dec;61(8):4231-4233. doi:10.1007/s00394-022-03004-9.

García Nieto V M, Claverie-Martin F, Moraleda Mesa T, Perdomo-Ramírez A, Fraga Rodríguez GM, Luis Yanes MI, Ramos-Trujillo E, Grupo RenalTube. Renal diseases that course with hypomagnesemia. Comments on a new hereditary hypomagnesemic tubulopathy. Nefrologia 2023. In Press, Available online https://doi.org/10.1016/j.nefro.2023.02.008

Vargas-Poussou R, Claverie-Martin F, Prot-Bertoye C, Carotti V, van der Wijst J, Perdomo-Ramirez A, Fraga-Rodriguez GM, Hureaux M, Bos C, Latta F, Houillier P, Hoenderop J, de Baaij J. Possible role for rare TRPM7 variants in patients with hypomagnesemia with secondary hypocalcemia. Nephrol Dial Transplant. 2022 May 13:gfac182. doi: 10.1093/ndt/gfac182.

Ramos-Trujillo E, García Nieto VM, Claverie-Martín F. Enfermedad de Dent. En: Nefrología Pediátrica. Exeni R, García-Nieto V, Medeiros M, Santos F, editores. Ediciones de la Universidad de Oviedo y Universidad Autónoma de México; 2021, p. 177-187.

Perdomo-Ramírez A, García Nieto VM, Claverie-Martín F. Hipomagnesemia familiar con hipercalciuria y nefrocalcinosis. Otras causas de hipomagnesemia. En: Nefrología Pediátrica. Exeni R, García-Nieto V, Medeiros M, Santos F, editores. Ediciones de la Universidad de Oviedo y Universidad Autónoma de México; 2021, p. 241-250.

Claverie-Martín F,  Perdomo-Ramírez A, Ramos-Trujillo E. Síndrome oculocerebrorrenal de Lowe. En: Nefrología Pediátrica. Exeni R, García-Nieto V, Medeiros M, Santos F, editores. Ediciones de la Universidad de Oviedo y Universidad Autónoma de México; 2021, p. 189-193.

Claverie-Martin F, Perdomo-Ramirez A, Garcia-Nieto V. Hereditary kidney diseases associated with hypomagnesemia. Kidney Res Clin Pract. 2021;40: 512-526. doi: 10.23876/j.krcp.21.112.

García-Nieto VM, Claverie-Martín F, Moraleda-Mesa T, Perdomo-Ramírez A, Tejera-Carreño P, Córdoba-Lanus E, Luis-Yanes MI, Ramos-Trujillo E; en representación del Grupo RenalTube. Gout associated with reduced renal excretion of uric acid. Renal tubular disorder that nephrologists do not treat. Nefrologia (Engl Ed). 2021 Sep 6:S0211-6995(21)00142-9. English, Spanish. doi: 10.1016/j.nefro.2021.03.013.

Vall-Palomar M, Burballa C, Claverie-Martín F, Meseguer A, Ariceta G. Heterogeneity is a common ground in familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN19 gene mutations. J Nephrol. 2021; 34: 2053-2062. doi: 10.1007/s40620-021-01054-6.

Franken GAC, Müller D, Mignot C, Keren B, Lévy J, Tabet AC, Germanaud D, Tejada MI, Kroes HY, Nievelstein RAJ, Brimble E, Ruzhnikov M, Claverie-Martin F, Szczepańska M, Ćuk M, Latta F, Konrad M, Martínez-Cruz LA, Bindels RJM, Hoenderop JGJ, Schlingmann KP, de Baaij JHF. The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2). Hum Mutat. 2021; 42: 473-486. doi: 10.1002/humu.24182.

Perdomo-Ramirez A, Antón-Gamero M, Rizzo DS, Trindade A, Ramos-Trujillo E, Claverie-Martin F. Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome. Intractable Rare Dis Res. 2020; 9: 222-228. doi:10.5582/irdr.2020.03092.

Carinelli S, Blanco OA, Perdomo-Ramirez A, Claverie-Martin F. Nail-Patella syndrome with early onset end-stage renal disease in a child with a novel heterozygous missense mutation in the LMX1B homeodomain: A case report. Biomed Rep. 2020;13: 49. doi: 10.3892/br.2020.1356.

García-Castaño A, Perdomo-Ramirez A, Vall-Palomar M, Ramos-Trujillo E, Madariaga L, Ariceta G, Claverie-Martin F. Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Mol Genet Genomic Med. 2020; 8(11): e1475. doi: 10.1002/mgg3.1475.

García-Nieto VM, Claverie-Martín F, Perdomo-Ramírez A, Cárdoba-Lanus E, Ramos-Trujillo E, Mura-Escorche G, Tejera-Carreño P, Luis-Yanes MI; el Grupo RenalTube. Considerations about the molecular basis of some kidney tubule disorders in relation to inbreeding and population displacement. Nefrologia (Engl Ed). 2020; 40: 126-132. English, Spanish. doi:10.1016/j.nefro.2019.08.004.

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.