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269 related items for PubMed ID: 19165416
1. 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 [Abstract] [Full Text] [Related]
2. 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 02; 16():92. PubMed ID: 26136118 [Abstract] [Full Text] [Related]
3. 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 02; 96(4):265-73. PubMed ID: 25555744 [Abstract] [Full Text] [Related]
4. 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 Apr 02; 22(2):187-92. PubMed ID: 21848011 [Abstract] [Full Text] [Related]
5. 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 02; 20(10):1490-3. PubMed ID: 16047219 [Abstract] [Full Text] [Related]
6. 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 02; 85(6):346-52. PubMed ID: 27007868 [Abstract] [Full Text] [Related]
7. 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 02; 107(4):403-408. PubMed ID: 32710267 [Abstract] [Full Text] [Related]
8. A novel PCLN-1 gene mutation in familial hypomagnesemia with hypercalciuria and atypical phenotype. Sanjad SA, Hariri A, Habbal ZM, Lifton RP. Pediatr Nephrol; 2007 Apr 02; 22(4):503-8. PubMed ID: 17123117 [Abstract] [Full Text] [Related]
9. 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 02; 23(6):1009-12. PubMed ID: 18253757 [Abstract] [Full Text] [Related]
10. A novel CLDN16 mutation in familial hypomagnesemia with hypercalciuria and nephrocalcinosis . Zhang H, Ling C, Liu X. Clin Nephrol; 2019 Aug 02; 92(2):95-97. PubMed ID: 31232269 [Abstract] [Full Text] [Related]
11. 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 02; 30(4):636-44. PubMed ID: 25477417 [Abstract] [Full Text] [Related]
12. 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 Apr 02; 60(1):76-80. PubMed ID: 30102483 [Abstract] [Full Text] [Related]
13. 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 [Abstract] [Full Text] [Related]
14. 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 08; 24(2):338-44. PubMed ID: 23538362 [Abstract] [Full Text] [Related]
15. 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 [Abstract] [Full Text] [Related]
16. 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 [Abstract] [Full Text] [Related]
17. 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 [Abstract] [Full Text] [Related]
18. 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 [Abstract] [Full Text] [Related]
19. Hypomagnesemia-hypercalciuria-nephrocalcinosis and ocular findings: a new claudin-19 mutation. Ekinci Z, Karabaş L, Konrad M. Turk J Pediatr; 2012 Dec 10; 54(2):168-70. PubMed ID: 22734304 [Abstract] [Full Text] [Related]
20. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in three siblings having the same genetic lesion but different clinical presentations. Seeley HH, Loomba-Albrecht LA, Nagel M, Butani L, Bremer AA. World J Pediatr; 2012 May 10; 8(2):177-80. PubMed ID: 21633858 [Abstract] [Full Text] [Related] Page: [Next] [New Search]