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Items: 1 to 50 of 65

1.

Considerations about the molecular basis of some kidney tubule disorders in relation to inbreeding and population displacement.

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.

Nefrologia. 2019 Nov 27. pii: S0211-6995(19)30177-8. doi: 10.1016/j.nefro.2019.08.004. [Epub ahead of print] Review. English, Spanish. No abstract available.

2.

Novel missense mutation affecting the LIM-A domain of LMX1B in a family with Nail-Patella syndrome.

Claverie-Martin F, Trindade A, Garcia-Gonzalez NC, Callejon AC.

Intractable Rare Dis Res. 2019 Feb;8(1):14-19. doi: 10.5582/irdr.2018.01131.

3.

Hipouricemia renal hereditaria tipo 1 y 2 en tres niños españoles. Revisión de casos pediátricos publicados.

Peris Vidal A, Marin Serra J, Lucas Sáez E, Ferrando Monleón S, Claverie-Martin F, Perdomo Ramírez A, Trujillo-Suarez J, Fons Moreno J.

Nefrologia. 2019 Jul - Aug;39(4):355-361. doi: 10.1016/j.nefro.2018.08.010. Epub 2019 Jan 28. Review. English, Spanish.

4.

Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations.

Perdomo-Ramirez A, de Armas-Ortiz M, Ramos-Trujillo E, Suarez-Artiles L, Claverie-Martin F.

BMC Med Genet. 2019 Jan 8;20(1):6. doi: 10.1186/s12881-018-0713-7.

5.

Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Perdomo-Ramirez A, Aguirre M, Davitaia T, Ariceta G, Ramos-Trujillo E; RenalTube Group, Claverie-Martin F.

Gene. 2019 Mar 20;689:227-234. doi: 10.1016/j.gene.2018.12.024. Epub 2018 Dec 18.

PMID:
30576809
6.

URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia.

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.

Clin Chim Acta. 2018 Jun;481:83-89. doi: 10.1016/j.cca.2018.02.030. Epub 2018 Feb 24.

PMID:
29486147
7.

Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease.

Suarez-Artiles L, Perdomo-Ramirez A, Ramos-Trujillo E, Claverie-Martin F.

Genes (Basel). 2018 Jan 4;9(1). pii: E15. doi: 10.3390/genes9010015.

8.

Prevalence of URAT1 allelic variants in the Roma population.

Stiburkova B, Gabrikova D, Čepek P, Šimek P, Kristian P, Cordoba-Lanus E, Claverie-Martin F.

Nucleosides Nucleotides Nucleic Acids. 2016 Dec;35(10-12):529-535.

PMID:
27906637
9.

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

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.

J Biol Chem. 2017 Jan 20;292(3):786-801. doi: 10.1074/jbc.M116.759944. Epub 2016 Nov 29.

10.

Three exonic mutations in polycystic kidney disease-2 gene (PKD2) alter splicing of its pre-mRNA in a minigene system.

Gonzalez-Paredes FJ, Ramos-Trujillo E, Claverie-Martin F.

Gene. 2016 Mar 1;578(1):117-23. doi: 10.1016/j.gene.2015.12.019. Epub 2015 Dec 10.

PMID:
26692149
11.

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics.

Claverie-Martin F.

Clin Kidney J. 2015 Dec;8(6):656-64. doi: 10.1093/ckj/sfv081. Epub 2015 Sep 1.

12.

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

Claverie-Martin F, Gonzalez-Paredes FJ, Ramos-Trujillo E.

RNA Biol. 2015;12(4):369-74. doi: 10.1080/15476286.2015.1014291.

13.

Haplotype analysis of CLDN19 single nucleotide polymorphisms in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Martin-Nuñez E, Cordoba-Lanus E, Gonzalez-Acosta H, Oliet A, Izquierdo E, Claverie-Martin F.

World J Pediatr. 2015 Aug;11(3):272-5. doi: 10.1007/s12519-014-0528-3. Epub 2014 Nov 20.

PMID:
25410674
14.

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

Claverie-Martín F, Vargas-Poussou R, Müller D, García-Nieto V.

Eur J Hum Genet. 2015 Jun;23(6). doi: 10.1038/ejhg.2014.176. Epub 2014 Sep 3. No abstract available.

15.

Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease.

Gonzalez-Paredes FJ, Ramos-Trujillo E, Claverie-Martin F.

Gene. 2014 Aug 10;546(2):243-9. doi: 10.1016/j.gene.2014.06.004. Epub 2014 Jun 4.

PMID:
24907393
16.

[Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis. Its history].

García-Nieto VM, Claverie-Martín F, Loris-Pablo C.

Nefrologia. 2014;34(1):5-10. doi: 10.3265/Nefrologia.pre2013.Nov.12230. Spanish. No abstract available.

17.

Dent's disease: Identification of seven new pathogenic mutations in the CLCN5 gene.

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.

J Pediatr Genet. 2013 Sep;2(3):133-40. doi: 10.3233/PGE-13061.

18.

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

Mejía N, Santos F, Claverie-Martín F, García-Nieto V, Ariceta G, Castaño L; RenalTube group.

Eur J Pediatr. 2013 Jun;172(6):775-80. doi: 10.1007/s00431-013-1934-6. Epub 2013 Feb 7.

PMID:
23389821
19.

Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

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.

PLoS One. 2013;8(1):e53151. doi: 10.1371/journal.pone.0053151. Epub 2013 Jan 3.

20.

Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene.

de Pablos AL, García-Nieto V, López-Menchero JC, Ramos-Trujillo E, González-Acosta H, Claverie-Martín F.

Clin Nephrol. 2014 May;81(5):363-8. doi: 10.5414/CN107687.

PMID:
23110775
21.

Dent's disease: clinical features and molecular basis.

Claverie-Martín F, Ramos-Trujillo E, García-Nieto V.

Pediatr Nephrol. 2011 May;26(5):693-704. doi: 10.1007/s00467-010-1657-0. Epub 2010 Oct 10.

PMID:
20936522
22.

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

de-Misa RF, Pérez-Méndez LI, Hernández-Jiménez JG, Rodríguez Mdel C, Vilar MC, Suárez J, Claveríe-Martín F.

Int J Dermatol. 2008 Aug;47(8):806-11. doi: 10.1111/j.1365-4632.2008.03680.x.

PMID:
18717860
23.

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

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.

J Dermatol Sci. 2008 Dec;52(3):186-92. doi: 10.1016/j.jdermsci.2008.06.001. Epub 2008 Jul 25.

PMID:
18657399
24.

Molecular analysis of the CLCN5 gene in Dent's disease: first mutation identified in a patient from South America.

Ramos-Trujillo E, Garcia-Nieto V, Gonzalez-Acosta H, Vara J, Pérez-Diaz V, Nadal I, Oliveros R, Claverie-Martin F.

Clin Nephrol. 2007 Dec;68(6):367-72.

PMID:
18184518
25.

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.

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.

J Hum Genet. 2007;52(3):255-61. Epub 2007 Jan 30.

PMID:
17262170
26.

Urolithiasis, idiopathic hypercalciuria and insularity.

García Nieto V, Claverie-Martin F.

Pediatr Nephrol. 2006 Sep;21(9):1331-2. Epub 2006 May 24. No abstract available.

PMID:
16721584
27.

Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families.

García-Nieto V, Flores C, Luis-Yanes MI, Gallego E, Villar J, Claverie-Martín F.

Pediatr Nephrol. 2006 May;21(5):643-8. Epub 2006 Mar 29.

PMID:
16572343
28.

[Bartter disease with neurosensitive deafness (Bartter type IV). A clinical entity described 10 years ago].

García Nieto V, Claverie-Martín F.

Nefrologia. 2005;25(6):596-601. Review. Spanish. No abstract available.

29.

The Alu insertion in the CLCN5 gene of a patient with Dent's disease leads to exon 11 skipping.

Claverie-Martín F, Flores C, Antón-Gamero M, González-Acosta H, García-Nieto V.

J Hum Genet. 2005;50(7):370-374. doi: 10.1007/s10038-005-0265-5. Epub 2005 Jul 23.

PMID:
16041495
30.

Chloride and sodium renal tubular handling in Dent's disease.

Antón-Gamero M, Claverie-Martín F, García-Nieto V, Vela-Enríquez F, García-Martínez E, Pérez-Navero JL.

Pediatr Nephrol. 2005 Aug;20(8):1198-9. Epub 2005 May 24. No abstract available.

PMID:
15912380
31.

Molecular cloning and expression in yeast of caprine prochymosin.

Vega-Hernández MC, Gómez-Coello A, Villar J, Claverie-Martín F.

J Biotechnol. 2004 Oct 19;114(1-2):69-79.

PMID:
15464600
32.

Simultaneous PCR detection of ica cluster and methicillin and mupirocin resistance genes in catheter-isolated Staphylococcus.

Martín-López JV, Díez-Gil O, Morales M, Batista N, Villar J, Claverie-Martín F, Méndez-Alvarez S.

Int Microbiol. 2004 Mar;7(1):63-6.

PMID:
15179609
33.

Characterization of the first VanB vancomycin-resistant Enterococcus faecium isolated in a Spanish hospital.

Lorenzo-Díaz F, Delgado T, Reyes-Darias JA, Flores C, Méndez-Alvarez S, Villar J, Sierra A, Claverie-Martín F.

Curr Microbiol. 2004 Mar;48(3):199-203.

PMID:
15057465
34.

[Chondrocalcinosis and hypomagnesaemia in a patient with a new mutation in the gene of the thiazide-sensitive Na-Cl cotransporter].

García Nieto V, Cantabrana A, Müller D, Claverie-Martín F.

Nefrologia. 2003 Nov-Dec;23(6):504-9. Spanish.

35.

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

Müller D, Kausalya PJ, Claverie-Martin F, Meij IC, Eggert P, Garcia-Nieto V, Hunziker W.

Am J Hum Genet. 2003 Dec;73(6):1293-301. Epub 2003 Nov 18.

36.

De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease.

Claverie-Martin F, González-Acosta H, Flores C, Antón-Gamero M, García-Nieto V.

Hum Genet. 2003 Nov;113(6):480-5. Epub 2003 Aug 29.

PMID:
14569459
37.

[Dent disease. History and genetic causes of a <new> tubulopathy].

García Nieto V, Claverie-Martín F.

Nefrologia. 2003;23(3):195-9. Spanish. No abstract available.

38.

Multiplex PCR for simultaneous detection of enterococcal genes vanA and vanB and staphylococcal genes mecA, ileS-2 and femB.

Ramos-Trujillo E, Pérez-Roth E, Méndez-Alvarez S, Claverie-Martín F.

Int Microbiol. 2003 Jun;6(2):113-5. Epub 2003 Jun 12.

39.

Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's disease.

Carballo-Trujillo I, Garcia-Nieto V, Moya-Angeler FJ, Antón-Gamero M, Loris C, Méndez-Alvarez S, Claverie-Martin F.

Nephrol Dial Transplant. 2003 Apr;18(4):717-23.

PMID:
12637640
40.

Low prevalence of vancomycin-resistant enterococci in clinical samples from hospitalized patients of the Canary Islands, Spain.

Pérez-Hernández X, Méndez-Alvarez S, Delgado T, Moreno A, Reyes-Darias A, Sierra López A, Villar J, González A, Martín Sánchez M, Macía M, Claverie-Martín F.

Int Microbiol. 2002 Sep;5(3):117-20. Epub 2002 Jun 26.

41.

Epithelial Ca(2+) channel (ECAC1) in autosomal dominant idiopathic hypercalciuria.

Müller D, Hoenderop JG, Vennekens R, Eggert P, Harangi F, Méhes K, Garcia-Nieto V, Claverie-Martin F, Os CH, Nilius B, J M Bindels R.

Nephrol Dial Transplant. 2002 Sep;17(9):1614-20.

PMID:
12198212
42.

Mupirocin resistance in methicillin-resistant Staphylococcus aureus clinical isolates in a Spanish hospital. Co-application of multiplex PCR assay and conventional microbiology methods.

Pérez-Roth E, Claverie-Martín F, Batista N, Moreno A, Méndez-Alvarez S.

Diagn Microbiol Infect Dis. 2002 Jun;43(2):123-8.

PMID:
12088619
43.

A PCR assay for rapid detection of vancomycin-resistant enterococci.

Pérez-Hernández X, Méndez-Alvarez S, Claverie-Martín F.

Diagn Microbiol Infect Dis. 2002 Apr;42(4):273-7.

PMID:
12007446
44.

Detection of Staphylococcus aureus Clinical Isolates Harboring the ica Gene Cluster Needed for Biofilm Establishment.

Martín-López JV, Pérez-Roth E, Claverie-Martín F, Díez Gil O, Batista N, Morales M, Méndez-Alvarez S.

J Clin Microbiol. 2002 Apr;40(4):1569-70. No abstract available.

45.

[Neonatal Bartter disease diagnosed with the detection of a mutation of the KCNJ1 gene which codifies the synthesis of the renal ROMK1 potassium channel].

García Nieto V, Müller D, van der Vliet W, Claverie-Martín F.

Nefrologia. 2001 Sep-Oct;21(5):448-55. Spanish.

46.

Multiplex PCR for simultaneous identification of Staphylococcus aureus and detection of methicillin and mupirocin resistance.

Pérez-Roth E, Claverie-Martín F, Villar J, Méndez-Alvarez S.

J Clin Microbiol. 2001 Nov;39(11):4037-41.

47.

Glycopeptide resistance in enterococci.

Méndez-Alvarez S, Pérez-Hernández X, Claverie-Martín F.

Int Microbiol. 2000 Jun;3(2):71-80. Review.

PMID:
11001535
48.

Molecular cloning, tissue distribution, and chromosomal mapping of the human epithelial Ca2+ channel (ECAC1).

Müller D, Hoenderop JG, Meij IC, van den Heuvel LP, Knoers NV, den Hollander AI, Eggert P, García-Nieto V, Claverie-Martín F, Bindels RJ.

Genomics. 2000 Jul 1;67(1):48-53.

PMID:
10945469
49.

Alternative splicing regulates the production of ARD-1 endoribonuclease and NIPP-1, an inhibitor of protein phosphatase-1, as isoforms encoded by the same gene.

Chang AC, Sohlberg B, Trinkle-Mulcahy L, Claverie-Martin F, Cohen P, Cohen SN.

Gene. 1999 Nov 15;240(1):45-55.

PMID:
10564811
50.

Nuclear organisation of NIPP1, a regulatory subunit of protein phosphatase 1 that associates with pre-mRNA splicing factors.

Trinkle-Mulcahy L, Ajuh P, Prescott A, Claverie-Martin F, Cohen S, Lamond AI, Cohen P.

J Cell Sci. 1999 Jan;112 ( Pt 2):157-68.

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