Magen D - Search Results

1

Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.

Magen D, Georgopoulos C, Bross P, Ang D, Segev Y, Goldsher D, Nemirovski A, Shahar E, Ravid S, Luder A, Heno B, Gershoni-Baruch R, Skorecki K, Mandel H. Magen D, et al. Am J Hum Genet. 2008 Jul;83(1):30-42. doi: 10.1016/j.ajhg.2008.05.016. Epub 2008 Jun 19. Am J Hum Genet. 2008. PMID: 18571143 Free PMC article.

2

Extreme hyperkalemia in Munchausen-by-proxy syndrome.

Magen D, Skorecki K. Magen D, et al. N Engl J Med. 1999 Apr 22;340(16):1293-4. doi: 10.1056/NEJM199904223401619. N Engl J Med. 1999. PMID: 10215505 No abstract available.

3

Autosomal recessive renal proximal tubulopathy and hypercalciuria: a new syndrome.

Magen D, Adler L, Mandel H, Efrati E, Zelikovic I. Magen D, et al. Am J Kidney Dis. 2004 Apr;43(4):600-6. doi: 10.1053/j.ajkd.2003.12.024. Am J Kidney Dis. 2004. PMID: 15042536

4

A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria.

Magen D, Sprecher E, Zelikovic I, Skorecki K. Magen D, et al. Kidney Int. 2005 Jan;67(1):34-41. doi: 10.1111/j.1523-1755.2005.00053.x. Kidney Int. 2005. PMID: 15610225 Free article.

5

A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability.

Falik-Zaccai TC, Khayat M, Luder A, Frenkel P, Magen D, Brik R, Gershoni-Baruch R, Mandel H. Falik-Zaccai TC, et al. Among authors: magen d. Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):46-56. doi: 10.1002/ajmg.b.30945. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 19308961

6

A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.

Magen D, Berger L, Coady MJ, Ilivitzki A, Militianu D, Tieder M, Selig S, Lapointe JY, Zelikovic I, Skorecki K. Magen D, et al. N Engl J Med. 2010 Mar 25;362(12):1102-9. doi: 10.1056/NEJMoa0905647. N Engl J Med. 2010. PMID: 20335586 Free article.

7

Mutations in DHDPSL are responsible for primary hyperoxaluria type III.

Belostotsky R, Seboun E, Idelson GH, Milliner DS, Becker-Cohen R, Rinat C, Monico CG, Feinstein S, Ben-Shalom E, Magen D, Weissman I, Charon C, Frishberg Y. Belostotsky R, et al. Among authors: magen d. Am J Hum Genet. 2010 Sep 10;87(3):392-9. doi: 10.1016/j.ajhg.2010.07.023. Am J Hum Genet. 2010. PMID: 20797690 Free PMC article.

8

Genetic disorders of renal phosphate transport.

Magen D, Zelikovic I, Skorecki K. Magen D, et al. N Engl J Med. 2010 Oct 28;363(18):1774; author reply 1774-5. doi: 10.1056/NEJMc1008407. N Engl J Med. 2010. PMID: 20979485 Free article. No abstract available.

9

Gitelman's syndrome: a pathophysiological and clinical update.

Nakhoul F, Nakhoul N, Dorman E, Berger L, Skorecki K, Magen D. Nakhoul F, et al. Among authors: magen d. Endocrine. 2012 Feb;41(1):53-7. doi: 10.1007/s12020-011-9556-0. Epub 2011 Nov 15. Endocrine. 2012. PMID: 22169961 Review.

10

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.

Magen D, Ofir A, Berger L, Goldsher D, Eran A, Katib N, Nijem Y, Vlodavsky E, Tzur S, Behar DM, Fellig Y, Mandel H. Magen D, et al. Hum Genet. 2015 Mar;134(3):305-14. doi: 10.1007/s00439-014-1522-5. Epub 2015 Jan 6. Hum Genet. 2015. PMID: 25560765

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