Sprecher E - Search Results

1

A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia.

Nousbeck J, Burger B, Fuchs-Telem D, Pavlovsky M, Fenig S, Sarig O, Itin P, Sprecher E. Nousbeck J, et al. Among authors: sprecher e. Am J Hum Genet. 2011 Aug 12;89(2):302-7. doi: 10.1016/j.ajhg.2011.07.004. Epub 2011 Aug 4. Am J Hum Genet. 2011. PMID: 21820097 Free PMC article.

2

Atrichia with papular lesions maps to 8p in the region containing the human hairless gene.

Sprecher E, Bergman R, Szargel R, Raz T, Labay V, Ramon M, Baruch-Gershoni R, Friedman-Birnbaum R, Cohen N. Sprecher E, et al. Am J Med Genet. 1998 Dec 28;80(5):546-50. doi: 10.1002/(sici)1096-8628(19981228)80:5<546::aid-ajmg28>3.0.co;2-i. Am J Med Genet. 1998. PMID: 9880231

3

Identification of a genetic defect in the hairless gene in atrichia with papular lesions: evidence for phenotypic heterogeneity among inherited atrichias.

Sprecher E, Bergman R, Szargel R, Friedman-Birnbaum R, Cohen N. Sprecher E, et al. Am J Hum Genet. 1999 May;64(5):1323-9. doi: 10.1086/302368. Am J Hum Genet. 1999. PMID: 10205263 Free PMC article.

4

Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.

Sprecher E, Itin P, Whittock NV, McGrath JA, Meyer R, DiGiovanna JJ, Bale SJ, Uitto J, Richard G. Sprecher E, et al. J Invest Dermatol. 2002 Sep;119(3):692-8. doi: 10.1046/j.1523-1747.2002.01855.x. J Invest Dermatol. 2002. PMID: 12230514 Free article.

5

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

6

A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma.

Sprecher E, Ishida-Yamamoto A, Mizrahi-Koren M, Rapaport D, Goldsher D, Indelman M, Topaz O, Chefetz I, Keren H, O'brien TJ, Bercovich D, Shalev S, Geiger D, Bergman R, Horowitz M, Mandel H. Sprecher E, et al. Am J Hum Genet. 2005 Aug;77(2):242-51. doi: 10.1086/432556. Epub 2005 Jun 20. Am J Hum Genet. 2005. PMID: 15968592 Free PMC article.

7

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

8

Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred.

Specktor P, Cooper JG, Indelman M, Sprecher E. Specktor P, et al. Among authors: sprecher e. J Hum Genet. 2006;51(5):487-490. doi: 10.1007/s10038-006-0377-6. Epub 2006 Mar 10. J Hum Genet. 2006. PMID: 16528452

9

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.

Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E. Lugassy J, et al. Among authors: sprecher e. Am J Hum Genet. 2006 Oct;79(4):724-30. doi: 10.1086/507792. Epub 2006 Aug 25. Am J Hum Genet. 2006. PMID: 16960809 Free PMC article.

10

A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.

Topaz O, Indelman M, Chefetz I, Geiger D, Metzker A, Altschuler Y, Choder M, Bercovich D, Uitto J, Bergman R, Richard G, Sprecher E. Topaz O, et al. Among authors: sprecher e. Am J Hum Genet. 2006 Oct;79(4):759-64. doi: 10.1086/508069. Epub 2006 Aug 24. Am J Hum Genet. 2006. PMID: 16960814 Free PMC article.

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