BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

248 related articles for article (PubMed ID: 25366522)

  • 1. 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]  

  • 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. 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]  

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

  • 5. 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]  

  • 6. 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]  

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

  • 8. 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]  

  • 9. A novel mutation of the claudin 16 gene in familial hypomagnesemia with hypercalciuria and nephrocalcinosis mimicking rickets.
    Kasapkara CS; Tumer L; Okur I; Hasanoglu A
    Genet Couns; 2011; 22(2):187-92. PubMed ID: 21848011
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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; 57(2):320-30. PubMed ID: 21186073
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in 2 sisters.
    Al-Elq AH
    Saudi Med J; 2008 Mar; 29(3):447-51. PubMed ID: 18327378
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): compound heterozygous mutation in the claudin 16 (CLDN16) gene.
    Hampson G; Konrad MA; Scoble J
    BMC Nephrol; 2008 Sep; 9():12. PubMed ID: 18816383
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical and molecular characterization of Turkish patients with familial hypomagnesaemia: novel mutations in TRPM6 and CLDN16 genes.
    Guran T; Akcay T; Bereket A; Atay Z; Turan S; Haisch L; Konrad M; Schlingmann KP
    Nephrol Dial Transplant; 2012 Feb; 27(2):667-73. PubMed ID: 21669885
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in three siblings having the same genetic lesion but different clinical presentations.
    Seeley HH; Loomba-Albrecht LA; Nagel M; Butani L; Bremer AA
    World J Pediatr; 2012 May; 8(2):177-80. PubMed ID: 21633858
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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; 19(1):181. PubMed ID: 30005619
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.