These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

202 related articles for article (PubMed ID: 30621608)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 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. 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 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
    Vall-Palomar M; Madariaga L; Ariceta G
    Pediatr Nephrol; 2021 Oct; 36(10):3045-3055. PubMed ID: 33595712
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. A Novel Mutation in CLDN16 Gene Causing Familial Hypomagnesemia, Hypercalciuria, Nephrocalcinosis in An Iranian Family.
    Malakoutian T; Madadi B; Saber S
    Iran J Kidney Dis; 2022 May; 16(3):209-213. PubMed ID: 35714216
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification of a Novel Homozygous Missense Mutation in the CLDN16 Gene to Decipher the Ambiguous Clinical Presentation Associated with Autosomal Dominant Hypocalcaemia and Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in an Indian Family.
    Thapa R; Roy A; Nayek K; Basu A
    Calcif Tissue Int; 2024 Feb; 114(2):110-118. PubMed ID: 38078932
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 11.