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Items: 1 to 20 of 151

1.

Hereditary causes of kidney stones and chronic kidney disease.

Edvardsson VO, Goldfarb DS, Lieske JC, Beara-Lasic L, Anglani F, Milliner DS, Palsson R.

Pediatr Nephrol. 2013 Oct;28(10):1923-42. doi: 10.1007/s00467-012-2329-z. Epub 2013 Jan 20. Review.

2.

Genetic defects underlying renal stone disease.

Rumsby G.

Int J Surg. 2016 Dec;36(Pt D):590-595. doi: 10.1016/j.ijsu.2016.11.015. Epub 2016 Nov 10. Review.

PMID:
27838384
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):288-94. doi: 10.1007/s10157-008-0126-6. Epub 2009 Jan 24.

PMID:
19165416
4.

Clinical and molecular characterization of Turkish patients with familial hypomagnesaemia: novel mutations in TRPM6 and CLDN16 genes.

Guran T, Akcay T, Bereket A, Atay Z, Turan S, Haisch L, Konrad M, Schlingmann KP.

Nephrol Dial Transplant. 2012 Feb;27(2):667-73. doi: 10.1093/ndt/gfr300. Epub 2011 Jun 9.

PMID:
21669885
5.

2,8-Dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism.

Ceballos-Picot I, Daudon M, Harambat J, Bensman A, Knebelmann B, Bollée G.

Nucleosides Nucleotides Nucleic Acids. 2014;33(4-6):241-52. doi: 10.1080/15257770.2013.853780. Review.

PMID:
24940675
6.

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;8(2):177-80. doi: 10.1007/s12519-011-0295-3. Epub 2011 Jun 1.

PMID:
21633858
7.

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;85(6):346-52. doi: 10.5414/CN108783.

PMID:
27007868
8.

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. doi: 10.1093/ndt/gfu374. Epub 2014 Dec 3.

PMID:
25477417
9.
10.

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.

Clin J Am Soc Nephrol. 2012 May;7(5):801-9. doi: 10.2215/CJN.12841211. Epub 2012 Mar 15.

11.

Adenine phosphoribosyltransferase deficiency.

Bollée G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I.

Clin J Am Soc Nephrol. 2012 Sep;7(9):1521-7. Epub 2012 Jun 14. Review.

12.

Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.

Runolfsdottir HL, Palsson R, Agustsdottir IM, Indridason OS, Edvardsson VO.

Am J Kidney Dis. 2016 Mar;67(3):431-8. doi: 10.1053/j.ajkd.2015.10.023. Epub 2015 Dec 25.

13.

[Inherited monogenic kidney stone diseases: recent diagnostic and therapeutic advances].

Jungers P, Joly D, Blanchard A, Courbebaisse M, Knebelmann B, Daudon M.

Nephrol Ther. 2008 Jul;4(4):231-55. doi: 10.1016/j.nephro.2007.12.005. Epub 2008 May 22. Review. French.

PMID:
18499551
14.

Clinical and genetic analysis of patients with cystinuria in the United Kingdom.

Rhodes HL, Yarram-Smith L, Rice SJ, Tabaksert A, Edwards N, Hartley A, Woodward MN, Smithson SL, Tomson C, Welsh GI, Williams M, Thwaites DT, Sayer JA, Coward RJ.

Clin J Am Soc Nephrol. 2015 Jul 7;10(7):1235-45. doi: 10.2215/CJN.10981114. Epub 2015 May 11.

15.

Three different causes of hypercalciuria.

Skalova S, Konrad M, Kutilek S.

Klin Padiatr. 2011 Sep;223(5):287-9. doi: 10.1055/s-0031-1273750. Epub 2011 Jun 22.

PMID:
21698557
16.

Stones, bones, and heredity.

Milliner DS.

Acta Paediatr Suppl. 2006 Jul;95(452):27-30.

PMID:
16801162
17.

Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.

Valaperta R, Rizzo V, Lombardi F, Verdelli C, Piccoli M, Ghiroldi A, Creo P, Colombo A, Valisi M, Margiotta E, Panella R, Costa E.

BMC Nephrol. 2014 Jul 1;15:102. doi: 10.1186/1471-2369-15-102.

18.

[The first case of adenine phosphoribosyltransferase deficiency with APRT*Q0 (M1I) mutation in Japan].

Ikeda H, Watanabe T, Fujimoto Y, Yamamoto S, Hosaki I, Isoyama K, Kawano S, Chiba M.

Hinyokika Kiyo. 2012 Jul;58(7):15-9. Japanese.

PMID:
22988602
19.

[Hereditary diseases causing kidney calculi].

Cochat P, Jouvenet M, Pellet H, Feber J, Martin X, Divry P.

Rev Prat. 1997 Sep 15;47(14):1554-8. French.

PMID:
9366114
20.

Nephrocalcinosis and urolithiasis in children.

Habbig S, Beck BB, Hoppe B.

Kidney Int. 2011 Dec;80(12):1278-91. doi: 10.1038/ki.2011.336. Epub 2011 Sep 28. Erratum in: Kidney Int. 2012 Aug;82(4):493-7.

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