Claverie-Martin F - Search Results

1

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. Claverie-Martin F, et al. Clin Chim Acta. 2018 Jun;481:83-89. doi: 10.1016/j.cca.2018.02.030. Epub 2018 Feb 24. Clin Chim Acta. 2018. PMID: 29486147

2

Additional cases of ureteral obstruction associated with Henoch-Schönlein purpura.

García-Nieto V, Claverie-Martin F. García-Nieto V, et al. Pediatr Nephrol. 1998 Feb;12(2):168-9. Pediatr Nephrol. 1998. PMID: 9543383 No abstract available.

3

[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. García Nieto V, et al. Nefrologia. 2001 Sep-Oct;21(5):448-55. Nefrologia. 2001. PMID: 11795013 Free article. Spanish.

4

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. Carballo-Trujillo I, et al. Nephrol Dial Transplant. 2003 Apr;18(4):717-23. doi: 10.1093/ndt/gfg016. Nephrol Dial Transplant. 2003. PMID: 12637640

5

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

García Nieto V, Claverie-Martín F. García Nieto V, et al. Nefrologia. 2003;23(3):195-9. Nefrologia. 2003. PMID: 12891933 Free article. Spanish. No abstract available.

6

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. Claverie-Martin F, et al. Hum Genet. 2003 Nov;113(6):480-5. doi: 10.1007/s00439-003-0991-8. Epub 2003 Aug 29. Hum Genet. 2003. PMID: 14569459

7

[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. García Nieto V, et al. Nefrologia. 2003 Nov-Dec;23(6):504-9. Nefrologia. 2003. PMID: 15002785 Free article. Spanish.

8

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. Claverie-Martín F, et al. J Hum Genet. 2005;50(7):370-374. doi: 10.1007/s10038-005-0265-5. Epub 2005 Jul 23. J Hum Genet. 2005. PMID: 16041495

9

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

García Nieto V, Claverie-Martín F. García Nieto V, et al. Nefrologia. 2005;25(6):596-601. Nefrologia. 2005. PMID: 16514898 Free article. Review. Spanish. No abstract available.

10

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. García-Nieto V, et al. Pediatr Nephrol. 2006 May;21(5):643-8. doi: 10.1007/s00467-006-0062-1. Epub 2006 Mar 29. Pediatr Nephrol. 2006. PMID: 16572343

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

81 results

Search Page