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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1979 | 1 |
1994 | 1 |
2004 | 1 |
2006 | 2 |
2012 | 1 |
2016 | 1 |
2017 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 149461
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Page 1
Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations.
J Med Genet. 2017 Jan;54(1):26-37. doi: 10.1136/jmedgenet-2016-103956. Epub 2016 Aug 16.
J Med Genet. 2017.
PMID: 27530400
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations.
Godron A, Harambat J, Boccio V, Mensire A, May A, Rigothier C, Couzi L, Barrou B, Godin M, Chauveau D, Faguer S, Vallet M, Cochat P, Eckart P, Guest G, Guigonis V, Houillier P, Blanchard A, Jeunemaitre X, Vargas-Poussou R.
Godron A, et al.
Clin J Am Soc Nephrol. 2012 May;7(5):801-9. doi: 10.2215/CJN.12841211. Epub 2012 Mar 15.
Clin J Am Soc Nephrol. 2012.
PMID: 22422540
Free PMC article.
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Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement.
Konrad M, Schaller A, Seelow D, Pandey AV, Waldegger S, Lesslauer A, Vitzthum H, Suzuki Y, Luk JM, Becker C, Schlingmann KP, Schmid M, Rodriguez-Soriano J, Ariceta G, Cano F, Enriquez R, Juppner H, Bakkaloglu SA, Hediger MA, Gallati S, Neuhauss SC, Nurnberg P, Weber S.
Konrad M, et al.
Am J Hum Genet. 2006 Nov;79(5):949-57. doi: 10.1086/508617. Epub 2006 Sep 19.
Am J Hum Genet. 2006.
PMID: 17033971
Free PMC article.
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Kidney claudin-19: localization in distal tubules and collecting ducts and dysregulation in polycystic renal disease.
Lee NP, Tong MK, Leung PP, Chan VW, Leung S, Tam PC, Chan KW, Lee KF, Yeung WS, Luk JM.
Lee NP, et al.
FEBS Lett. 2006 Feb 6;580(3):923-31. doi: 10.1016/j.febslet.2006.01.019. Epub 2006 Jan 18.
FEBS Lett. 2006.
PMID: 16427635
Free article.
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Sp1 site is crucial for the mouse claudin-19 gene expression in the kidney cells.
Luk JM, Tong MK, Mok BW, Tam PC, Yeung WS, Lee KF.
Luk JM, et al.
FEBS Lett. 2004 Dec 17;578(3):251-6. doi: 10.1016/j.febslet.2004.11.010.
FEBS Lett. 2004.
PMID: 15589828
Free article.
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Pathophysiology of the renal acidification defect present in the syndrome of familial hypomagnesaemia-hypercalciuria.
Rodríguez-Soriano J, Vallo A.
Rodríguez-Soriano J, et al.
Pediatr Nephrol. 1994 Aug;8(4):431-5. doi: 10.1007/BF00856522.
Pediatr Nephrol. 1994.
PMID: 7947033
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Idiopathic hypercalciuria with bilateral macular colobomata: a new variant of oculo-renal syndrome.
Meier W, Blumberg A, Imahorn W, De Luca F, Wildberger H, Oetliker O.
Meier W, et al.
Helv Paediatr Acta. 1979;34(3):257-69.
Helv Paediatr Acta. 1979.
PMID: 500385
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