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Journal Abstract Search

324 related items for PubMed ID: 21669885

  • 1. 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
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  • 3. 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 Feb; 22(2):187-92. PubMed ID: 21848011
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  • 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
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  • 6. 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 10; 6():527. PubMed ID: 24321194
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  • 7. Three different causes of hypercalciuria.
    Skalova S, Konrad M, Kutilek S.
    Klin Padiatr; 2011 Sep 10; 223(5):287-9. PubMed ID: 21698557
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  • 8. 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 10; 85(6):346-52. PubMed ID: 27007868
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  • 9. 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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  • 10. 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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  • 11. Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia.
    Schlingmann KP, Sassen MC, Weber S, Pechmann U, Kusch K, Pelken L, Lotan D, Syrrou M, Prebble JJ, Cole DE, Metzger DL, Rahman S, Tajima T, Shu SG, Waldegger S, Seyberth HW, Konrad M.
    J Am Soc Nephrol; 2005 Oct 01; 16(10):3061-9. PubMed ID: 16107578
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  • 12. Targeted deletion of murine Cldn16 identifies extra- and intrarenal compensatory mechanisms of Ca2+ and Mg2+ wasting.
    Will C, Breiderhoff T, Thumfart J, Stuiver M, Kopplin K, Sommer K, Günzel D, Querfeld U, Meij IC, Shan Q, Bleich M, Willnow TE, Müller D.
    Am J Physiol Renal Physiol; 2010 May 01; 298(5):F1152-61. PubMed ID: 20147368
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  • 14. 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 08; 20(1):6. PubMed ID: 30621608
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  • 17. 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 08; 37(1):180-3. PubMed ID: 25366522
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  • 19. Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene.
    Weber S, Hoffmann K, Jeck N, Saar K, Boeswald M, Kuwertz-Broeking E, Meij II, Knoers NV, Cochat P, Suláková T, Bonzel KE, Soergel M, Manz F, Schaerer K, Seyberth HW, Reis A, Konrad M.
    Eur J Hum Genet; 2000 Jun 08; 8(6):414-22. PubMed ID: 10878661
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