194 related articles for article (PubMed ID: 15856319)
1. Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family study.
Tasic V; Dervisov D; Koceva S; Weber S; Konrad M
Pediatr Nephrol; 2005 Jul; 20(7):1003-6. PubMed ID: 15856319
[TBL] [Abstract][Full Text] [Related]
2. 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
[TBL] [Abstract][Full Text] [Related]
3. 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
[TBL] [Abstract][Full Text] [Related]
4. 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; 60(1):76-80. PubMed ID: 30102483
[TBL] [Abstract][Full Text] [Related]
5. 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; 16():92. PubMed ID: 26136118
[TBL] [Abstract][Full Text] [Related]
6. 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; 30(4):636-44. PubMed ID: 25477417
[TBL] [Abstract][Full Text] [Related]
7. 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; 8(11):e1475. PubMed ID: 32869508
[TBL] [Abstract][Full Text] [Related]
8. Unusual clinical presentation and possible rescue of a novel claudin-16 mutation.
Müller D; Kausalya PJ; Bockenhauer D; Thumfart J; Meij IC; Dillon MJ; van't Hoff W; Hunziker W
J Clin Endocrinol Metab; 2006 Aug; 91(8):3076-9. PubMed ID: 16705067
[TBL] [Abstract][Full Text] [Related]
9. Hypomagnesemia and nephrocalcinosis in a patient with two heterozygous mutations in the CLDN16 gene.
Staiger K; Staiger H; Haas C; Thamer C; Risler T; Machicao F; Häring HU
J Nephrol; 2007; 20(1):107-10. PubMed ID: 17347984
[TBL] [Abstract][Full Text] [Related]
10. Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Weber S; Schneider L; Peters M; Misselwitz J; Rönnefarth G; Böswald M; Bonzel KE; Seeman T; Suláková T; Kuwertz-Bröking E; Gregoric A; Palcoux JB; Tasic V; Manz F; Schärer K; Seyberth HW; Konrad M
J Am Soc Nephrol; 2001 Sep; 12(9):1872-1881. PubMed ID: 11518780
[TBL] [Abstract][Full Text] [Related]
11. 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; 19(1):181. PubMed ID: 30005619
[TBL] [Abstract][Full Text] [Related]
12. An unusual patient with hypercalciuria, recurrent nephrolithiasis, hypomagnesemia and G227R mutation of Paracellin-1. An unusual patient with hypercalciuria and hypomagnesemia unresponsive to thiazide diuretics.
Kutluturk F; Temel B; Uslu B; Aral F; Azezli A; Orhan Y; Konrad M; Ozbey N
Horm Res; 2006; 66(4):175-81. PubMed ID: 16804318
[TBL] [Abstract][Full Text] [Related]
13. 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
[TBL] [Abstract][Full Text] [Related]
14. 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
[TBL] [Abstract][Full Text] [Related]
15. 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
[TBL] [Abstract][Full Text] [Related]
16. Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features.
Eltan M; Yavas Abali Z; Turkyilmaz A; Gokce I; Abali S; Alavanda C; Arman A; Kirkgoz T; Guran T; Hatun S; Bereket A; Turan S
Calcif Tissue Int; 2022 Apr; 110(4):441-450. PubMed ID: 34761296
[TBL] [Abstract][Full Text] [Related]
17. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: blocking endocytosis restores surface expression of a novel Claudin-16 mutant that lacks the entire C-terminal cytosolic tail.
Müller D; Kausalya PJ; Meij IC; Hunziker W
Hum Mol Genet; 2006 Apr; 15(7):1049-58. PubMed ID: 16501001
[TBL] [Abstract][Full Text] [Related]
18. Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: the first four patients in Serbia.
Peco-Antić A; Konrad M; Milosevski-Lomić G; Dimitrijević N
Srp Arh Celok Lek; 2010; 138(5-6):351-5. PubMed ID: 20607983
[TBL] [Abstract][Full Text] [Related]
19. 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; 22(4):503-8. PubMed ID: 17123117
[TBL] [Abstract][Full Text] [Related]
20. Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): compound heterozygous mutation in the claudin 16 (CLDN16) gene.
Hampson G; Konrad MA; Scoble J
BMC Nephrol; 2008 Sep; 9():12. PubMed ID: 18816383
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
