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PUBMED FOR HANDHELDS

Journal Abstract Search


186 related items for PubMed ID: 38078932

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  • 4. 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
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  • 6. 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 13; 19(1):181. PubMed ID: 30005619
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  • 8. 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 13; 107(4):403-408. PubMed ID: 32710267
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  • 9. 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 13; 16(3):209-213. PubMed ID: 35714216
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  • 15. 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 13; 8(11):e1475. PubMed ID: 32869508
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  • 16. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
    Vall-Palomar M, Madariaga L, Ariceta G.
    Pediatr Nephrol; 2021 Oct 13; 36(10):3045-3055. PubMed ID: 33595712
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  • 18. 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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  • 19. Hypomagnesemia-hypercalciuria-nephrocalcinosis and ocular findings: a new claudin-19 mutation.
    Ekinci Z, Karabaş L, Konrad M.
    Turk J Pediatr; 2012 Jan 08; 54(2):168-70. PubMed ID: 22734304
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