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Journal Abstract Search

268 related items for PubMed ID: 25555744

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  • 2. 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
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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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  • 5. 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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  • 6. 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 Mar 20; 60(1):76-80. PubMed ID: 30102483
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  • 8. 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 20; 24(2):338-44. PubMed ID: 23538362
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  • 14. 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 20; 114(2):110-118. PubMed ID: 38078932
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  • 16. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
    Vall-Palomar M, Madariaga L, Ariceta G.
    Pediatr Nephrol; 2021 Oct 20; 36(10):3045-3055. PubMed ID: 33595712
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  • 18. 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 Oct 20; 22(2):187-92. PubMed ID: 21848011
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  • 19. 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 20; 7(5):801-9. PubMed ID: 22422540
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  • 20. A novel mutation in CLDN16 results in rare familial hypomagnesaemia with hypercalciuria and nephrocalcinosis in a Chinese family.
    Lv F, Xu XJ, Wang JY, Liu Y, Jiang Y, Wang O, Xia WB, Xing XP, Li M.
    Clin Chim Acta; 2016 Jun 01; 457():69-74. PubMed ID: 27067446
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