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Journal Abstract Search

197 related items for PubMed ID: 21791920

  • 1. Mutation in the tight-junction gene claudin 19 (CLDN19) and familial hypomagnesemia, hypercalciuria, nephrocalcinosis (FHHNC) and severe ocular disease.
    Naeem M, Hussain S, Akhtar N.
    Am J Nephrol; 2011; 34(3):241-8. PubMed ID: 21791920
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  • 2. First report of a novel missense CLDN19 mutations causing familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a Chinese family.
    Yuan T, Pang Q, Xing X, Wang X, Li Y, Li J, Wu X, Li M, Wang O, Jiang Y, Dong J, Xia W.
    Calcif Tissue Int; 2015 Apr; 96(4):265-73. PubMed ID: 25555744
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  • 3. Hypomagnesemia-hypercalciuria-nephrocalcinosis and ocular findings: a new claudin-19 mutation.
    Ekinci Z, Karabaş L, Konrad M.
    Turk J Pediatr; 2012 Apr; 54(2):168-70. PubMed ID: 22734304
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  • 4. Identification of the first large deletion in the CLDN16 gene in a patient with FHHNC and late-onset of chronic kidney disease: case report.
    Yamaguti PM, dos Santos PA, Leal BS, Santana VB, Mazzeu JF, Acevedo AC, Neves Fde A.
    BMC Nephrol; 2015 Jul 02; 16():92. PubMed ID: 26136118
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  • 5. 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 02; 24(2):338-44. PubMed ID: 23538362
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  • 6. 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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  • 7. The role of tight junctions in paracellular ion transport in the renal tubule: lessons learned from a rare inherited tubular disorder.
    Haisch L, Almeida JR, Abreu da Silva PR, Schlingmann KP, Konrad M.
    Am J Kidney Dis; 2011 Feb 20; 57(2):320-30. PubMed ID: 21186073
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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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  • 10. 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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  • 11. 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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  • 15. Claudin-16 and claudin-19 interact and form a cation-selective tight junction complex.
    Hou J, Renigunta A, Konrad M, Gomes AS, Schneeberger EE, Paul DL, Waldegger S, Goodenough DA.
    J Clin Invest; 2008 Feb 20; 118(2):619-28. PubMed ID: 18188451
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  • 16. 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 20; 13(4):288-294. PubMed ID: 19165416
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  • 17. Unusual clinical presentation and possible rescue of a novel claudin-16 mutation.
    Müller D, Kausalya PJ, Bockenhauer D, Thumfart J, Meij IC, Dillon MJ, van't Hoff W, Hunziker W.
    J Clin Endocrinol Metab; 2006 Aug 20; 91(8):3076-9. PubMed ID: 16705067
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  • 18. Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: a case report.
    Lu J, Zhao X, Paiardini A, Lang Y, Bottillo I, Shao L.
    BMC Nephrol; 2018 Jul 13; 19(1):181. PubMed ID: 30005619
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  • 19. 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 13; 22(4):503-8. PubMed ID: 17123117
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  • 20. Claudin 19-based familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a sibling pair.
    Sharma S, Place E, Lord K, Leroy BP, Falk MJ, Pradhan M.
    Clin Nephrol; 2016 Jun 13; 85(6):346-52. PubMed ID: 27007868
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