BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

271 related articles for article (PubMed ID: 30576809)

  • 1. 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; ; Claverie-Martin F
    Gene; 2019 Mar; 689():227-234. PubMed ID: 30576809
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations.
    Godron A; Harambat J; Boccio V; Mensire A; May A; Rigothier C; Couzi L; Barrou B; Godin M; Chauveau D; Faguer S; Vallet M; Cochat P; Eckart P; Guest G; Guigonis V; Houillier P; Blanchard A; Jeunemaitre X; Vargas-Poussou R
    Clin J Am Soc Nephrol; 2012 May; 7(5):801-9. PubMed ID: 22422540
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    BMC Med Genet; 2019 Jan; 20(1):6. PubMed ID: 30621608
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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;
    PLoS One; 2013; 8(1):e53151. PubMed ID: 23301036
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel
    Zhang H; Ling C; Liu X
    Clin Nephrol; 2019 Aug; 92(2):95-97. PubMed ID: 31232269
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 85(6):346-52. PubMed ID: 27007868
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 16():92. PubMed ID: 26136118
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: report of three Turkish siblings.
    Peru H; Akin F; Elmas S; Elmaci AM; Konrad M
    Pediatr Nephrol; 2008 Jun; 23(6):1009-12. PubMed ID: 18253757
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 8(11):e1475. PubMed ID: 32869508
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 37(1):180-3. PubMed ID: 25366522
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel CLDN16 mutation in a large family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis.
    Deeb A; Abood SA; Simon J; Dastoor H; Pearce SH; Sayer JA
    BMC Res Notes; 2013 Dec; 6():527. PubMed ID: 24321194
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Hypomagnesemia with Hypercalciuria Leading to Nephrocalcinosis, Amelogenesis Imperfecta, and Short Stature in a Child Carrying a Homozygous Deletion in the CLDN16 Gene.
    Radonsky V; Kizys MML; Dotto RP; Esper PLG; Heilberg IP; Dias-da-Silva MR; Lazaretti-Castro M
    Calcif Tissue Int; 2020 Oct; 107(4):403-408. PubMed ID: 32710267
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 11(3):272-5. PubMed ID: 25410674
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Retrospective cohort study of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutations.
    Sikora P; Zaniew M; Haisch L; Pulcer B; Szczepańska M; Moczulska A; Rogowska-Kalisz A; Bieniaś B; Tkaczyk M; Ostalska-Nowicka D; Zachwieja K; Hyla-Klekot L; Schlingmann KP; Konrad M
    Nephrol Dial Transplant; 2015 Apr; 30(4):636-44. PubMed ID: 25477417
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 118(2):619-28. PubMed ID: 18188451
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hypomagnesemia-hypercalciuria-nephrocalcinosis and ocular findings: a new claudin-19 mutation.
    Ekinci Z; Karabaş L; Konrad M
    Turk J Pediatr; 2012; 54(2):168-70. PubMed ID: 22734304
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.