Claverie-Martin F - Search Results

1

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. Peris Vidal A, et al. Nefrologia (Engl Ed). 2019 Jul-Aug;39(4):355-361. doi: 10.1016/j.nefro.2018.08.010. Epub 2019 Jan 28. Nefrologia (Engl Ed). 2019. PMID: 30704753 Free article. Review. English, Spanish.

2

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. Suarez-Artiles L, et al. Genes (Basel). 2018 Jan 4;9(1):15. doi: 10.3390/genes9010015. Genes (Basel). 2018. PMID: 29300302 Free PMC article.

3

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

4

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. Perdomo-Ramirez A, et al. Gene. 2019 Mar 20;689:227-234. doi: 10.1016/j.gene.2018.12.024. Epub 2018 Dec 18. Gene. 2019. PMID: 30576809

5

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. Perdomo-Ramirez A, et al. BMC Med Genet. 2019 Jan 8;20(1):6. doi: 10.1186/s12881-018-0713-7. BMC Med Genet. 2019. PMID: 30621608 Free PMC article.

6

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. García-Nieto VM, et al. Nefrologia (Engl Ed). 2020 Mar-Apr;40(2):126-132. doi: 10.1016/j.nefro.2019.08.004. Epub 2019 Nov 27. Nefrologia (Engl Ed). 2020. PMID: 31785849 Free article. Review. English, Spanish. No abstract available.

7

Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

García-Castaño A, Perdomo-Ramirez A, Vall-Palomar M, Ramos-Trujillo E, Madariaga L, Ariceta G, Claverie-Martin F. García-Castaño A, et al. Mol Genet Genomic Med. 2020 Nov;8(11):e1475. doi: 10.1002/mgg3.1475. Epub 2020 Sep 1. Mol Genet Genomic Med. 2020. PMID: 32869508 Free PMC article.

8

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.

Carinelli S, Blanco OA, Perdomo-Ramirez A, Claverie-Martin F. Carinelli S, et al. Biomed Rep. 2020 Nov;13(5):49. doi: 10.3892/br.2020.1356. Epub 2020 Sep 4. Biomed Rep. 2020. PMID: 32963778 Free PMC article.

9

Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome.

Perdomo-Ramirez A, Antón-Gamero M, Rizzo DS, Trindade A, Ramos-Trujillo E, Claverie-Martin F. Perdomo-Ramirez A, et al. Intractable Rare Dis Res. 2020 Nov;9(4):222-228. doi: 10.5582/irdr.2020.03092. Intractable Rare Dis Res. 2020. PMID: 33139981 Free PMC article.

10

Gout associated with reduced renal excretion of uric acid. Renal tubular disorder that nephrologists do not treat.

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. García-Nieto VM, et al. Nefrologia (Engl Ed). 2021 Sep 6:S0211-6995(21)00142-9. doi: 10.1016/j.nefro.2021.03.013. Online ahead of print. Nefrologia (Engl Ed). 2021. PMID: 34503865 Free article. Review. English, Spanish.

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