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Journal Abstract Search

164 related items for PubMed ID: 23538362

  • 1. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC): report of three cases with a novel mutation in CLDN19 gene.
    Al-Shibli A, Konrad M, Altay W, Al Masri O, Al-Gazali L, Al Attrach I.
    Saudi J Kidney Dis Transpl; 2013 Mar; 24(2):338-44. PubMed ID: 23538362
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  • 4. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: unusual clinical associations and novel claudin16 mutation in an Egyptian family.
    Al-Haggar M, Bakr A, Tajima T, Fujieda K, Hammad A, Soliman O, Darwish A, Al-Said A, Yahia S, Abdel-Hady D.
    Clin Exp Nephrol; 2009 Aug; 13(4):288-294. PubMed ID: 19165416
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  • 7. 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. PubMed ID: 30576809
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  • 8. 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.
    Mol Genet Genomic Med; 2020 Nov 20; 8(11):e1475. PubMed ID: 32869508
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  • 11. 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 Nov 20; 8(1):e53151. PubMed ID: 23301036
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  • 12. Renal, ocular, and neuromuscular involvements in patients with CLDN19 mutations.
    Faguer S, Chauveau D, Cintas P, Tack I, Cointault O, Rostaing L, Vargas-Poussou R, Ribes D.
    Clin J Am Soc Nephrol; 2011 Feb 20; 6(2):355-60. PubMed ID: 21030577
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  • 13. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: variable phenotypic expression in three affected sisters from Mexican ancestry.
    Arteaga ME, Hunziker W, Teo AS, Hillmer AM, Mutchinick OM.
    Ren Fail; 2015 Feb 20; 37(1):180-3. PubMed ID: 25366522
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  • 14. A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings.
    Alparslan C, Öncel EP, Akbay S, Alaygut D, Mutlubaş F, Tatlı M, Konrad M, Yavaşcan Ö, Kasap-Demir B.
    Turk J Pediatr; 2018 Feb 20; 60(1):76-80. PubMed ID: 30102483
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  • 15. 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 20; 11(3):272-5. PubMed ID: 25410674
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  • 16. A novel CLDN16 mutation in familial hypomagnesemia with hypercalciuria and nephrocalcinosis
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    Zhang H, Ling C, Liu X.
    Clin Nephrol; 2019 Aug 20; 92(2):95-97. PubMed ID: 31232269
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  • 20. A novel PCLN-1 gene mutation in familial hypomagnesemia with hypercalciuria and atypical phenotype.
    Sanjad SA, Hariri A, Habbal ZM, Lifton RP.
    Pediatr Nephrol; 2007 Apr 20; 22(4):503-8. PubMed ID: 17123117
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