Sprecher E - Search Results

1

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. Among authors: sprecher e. Kidney Int. 2005 Jan;67(1):34-41. doi: 10.1111/j.1523-1755.2005.00053.x. Kidney Int. 2005. PMID: 15610225 Free article.

2

A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy.

Indelman M, Bergman R, Lurie R, Richard G, Miller B, Petronius D, Ciubutaro D, Leibu R, Sprecher E. Indelman M, et al. Among authors: sprecher e. J Invest Dermatol. 2002 Nov;119(5):1210-3. doi: 10.1046/j.1523-1747.2002.19528.x. J Invest Dermatol. 2002. PMID: 12445216 Free article.

3

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.

Topaz O, Shurman DL, Bergman R, Indelman M, Ratajczak P, Mizrachi M, Khamaysi Z, Behar D, Petronius D, Friedman V, Zelikovic I, Raimer S, Metzker A, Richard G, Sprecher E. Topaz O, et al. Among authors: sprecher e. Nat Genet. 2004 Jun;36(6):579-81. doi: 10.1038/ng1358. Epub 2004 May 9. Nat Genet. 2004. PMID: 15133511

4

A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification.

Chefetz I, Heller R, Galli-Tsinopoulou A, Richard G, Wollnik B, Indelman M, Koerber F, Topaz O, Bergman R, Sprecher E, Schoenau E. Chefetz I, et al. Among authors: sprecher e. Hum Genet. 2005 Nov;118(2):261-6. doi: 10.1007/s00439-005-0026-8. Epub 2005 Nov 15. Hum Genet. 2005. PMID: 16151858

5

A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome.

Hershkovitz T, Hassoun G, Indelman M, Shlush LI, Bergman R, Pollack S, Sprecher E. Hershkovitz T, et al. Among authors: sprecher e. Clin Exp Dermatol. 2006 May;31(3):435-40. doi: 10.1111/j.1365-2230.2006.02112.x. Clin Exp Dermatol. 2006. PMID: 16681595

6

Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.

Basel-Vanagaite L, Attia R, Ishida-Yamamoto A, Rainshtein L, Ben Amitai D, Lurie R, Pasmanik-Chor M, Indelman M, Zvulunov A, Saban S, Magal N, Sprecher E, Shohat M. Basel-Vanagaite L, et al. Among authors: sprecher e. Am J Hum Genet. 2007 Mar;80(3):467-77. doi: 10.1086/512487. Epub 2007 Jan 23. Am J Hum Genet. 2007. PMID: 17273967 Free PMC article.

7

Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.

Chefetz I, Ben Amitai D, Browning S, Skorecki K, Adir N, Thomas MG, Kogleck L, Topaz O, Indelman M, Uitto J, Richard G, Bradman N, Sprecher E. Chefetz I, et al. Among authors: sprecher e. J Invest Dermatol. 2008 Jun;128(6):1423-9. doi: 10.1038/sj.jid.5701203. Epub 2007 Dec 20. J Invest Dermatol. 2008. PMID: 18094730 Free PMC article.

8

SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.

Mandel H, Shemer R, Borochowitz ZU, Okopnik M, Knopf C, Indelman M, Drugan A, Tiosano D, Gershoni-Baruch R, Choder M, Sprecher E. Mandel H, et al. Among authors: sprecher e. Am J Hum Genet. 2008 Jan;82(1):39-47. doi: 10.1016/j.ajhg.2007.08.005. Am J Hum Genet. 2008. PMID: 18179883 Free PMC article.

9

A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families.

Nahum S, Pasternack SM, Pforr J, Indelman M, Wollnik B, Bergman R, Nöthen MM, König A, Khamaysi Z, Betz RC, Sprecher E. Nahum S, et al. Among authors: sprecher e. Arch Dermatol Res. 2009 Jun;301(5):391-3. doi: 10.1007/s00403-008-0903-9. Epub 2008 Sep 27. Arch Dermatol Res. 2009. PMID: 18820939

10

A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp.

Nahum S, Morice-Picard F, Taieb A, Sprecher E. Nahum S, et al. Among authors: sprecher e. Clin Exp Dermatol. 2011 Mar;36(2):188-94. doi: 10.1111/j.1365-2230.2010.03944.x. Epub 2010 Nov 10. Clin Exp Dermatol. 2011. PMID: 21070332

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