Claverie-Martin F - Search Results

1

The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).

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. Franken GAC, et al. Hum Mutat. 2021 Apr;42(4):473-486. doi: 10.1002/humu.24182. Epub 2021 Mar 1. Hum Mutat. 2021. PMID: 33600043 Free PMC article.

2

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. Müller D, et al. Genomics. 2000 Jul 1;67(1):48-53. doi: 10.1006/geno.2000.6203. Genomics. 2000. PMID: 10945469

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

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. Müller D, et al. Nephrol Dial Transplant. 2002 Sep;17(9):1614-20. doi: 10.1093/ndt/17.9.1614. Nephrol Dial Transplant. 2002. PMID: 12198212

5

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. Müller D, et al. Am J Hum Genet. 2003 Dec;73(6):1293-301. doi: 10.1086/380418. Epub 2003 Nov 18. Am J Hum Genet. 2003. PMID: 14628289 Free PMC article.

6

[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.

7

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. Claverie-Martín F, et al. Eur J Hum Genet. 2015 Jun;23(6):889-. doi: 10.1038/ejhg.2014.176. Epub 2014 Sep 3. Eur J Hum Genet. 2015. PMID: 25182135 Free PMC article. No abstract available.

8

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. Giménez-Mascarell P, et al. J Biol Chem. 2017 Jan 20;292(3):786-801. doi: 10.1074/jbc.M116.759944. Epub 2016 Nov 29. J Biol Chem. 2017. PMID: 27899452 Free PMC article.

9

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.

10

Possible role for rare TRPM7 variants in patients with hypomagnesaemia with secondary hypocalcaemia.

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 JGJ, de Baaij JHF. Vargas-Poussou R, et al. Among authors: claverie martin f. Nephrol Dial Transplant. 2023 Feb 28;38(3):679-690. doi: 10.1093/ndt/gfac182. Nephrol Dial Transplant. 2023. PMID: 35561741 Free PMC article.

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