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Journal Abstract Search

249 related items for PubMed ID: 17123117

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  • 4. 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; 8(6):414-22. PubMed ID: 10878661
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  • 5. Paracellin-1 is critical for magnesium and calcium reabsorption in the human thick ascending limb of Henle.
    Blanchard A, Jeunemaitre X, Coudol P, Dechaux M, Froissart M, May A, Demontis R, Fournier A, Paillard M, Houillier P.
    Kidney Int; 2001 Jun; 59(6):2206-15. PubMed ID: 11380823
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  • 8. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in 2 sisters.
    Al-Elq AH.
    Saudi Med J; 2008 Mar; 29(3):447-51. PubMed ID: 18327378
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  • 9. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis associated with CLDN16 mutations.
    Kang JH, Choi HJ, Cho HY, Lee JH, Ha IS, Cheong HI, Choi Y.
    Pediatr Nephrol; 2005 Oct; 20(10):1490-3. PubMed ID: 16047219
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  • 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
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  • 11. Hypomagnesemia-hypercalciuria-nephrocalcinosis and ocular findings: a new claudin-19 mutation.
    Ekinci Z, Karabaş L, Konrad M.
    Turk J Pediatr; 2012 Jun; 54(2):168-70. PubMed ID: 22734304
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  • 13. Impaired paracellular ion transport in the loop of Henle causes familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
    Haisch L, Konrad M.
    Ann N Y Acad Sci; 2012 Jul; 1258():177-84. PubMed ID: 22731731
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  • 14. Inherited hypercalciuric syndromes: Dent's disease (CLC-5) and familial hypomagnesemia with hypercalciuria (paracellin-1).
    Knohl SJ, Scheinman SJ.
    Semin Nephrol; 2004 Jan; 24(1):55-60. PubMed ID: 14730510
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  • 17. 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 Jan; 34(3):241-8. PubMed ID: 21791920
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  • 19. 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 Jan; 22(2):187-92. PubMed ID: 21848011
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