Sprecher E - Search Results

1

A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin.

Shalev SA, Sprecher E, Indelman M, Hujirat Y, Bergman R, Rottem M. Shalev SA, et al. Among authors: sprecher e. Int Arch Allergy Immunol. 2007;143(3):190-3. doi: 10.1159/000099311. Epub 2007 Feb 6. Int Arch Allergy Immunol. 2007. PMID: 17284928

2

Reduced folate carrier (RFC-1) gene expression in normal and psoriatic skin.

Sprecher E, Bergman R, Sprecher H, Maor G, Reiter I, Krivoy N, Drori S, Assaraf YG, Friedman-Birnbaum R. Sprecher E, et al. Among authors: sprecher h. Arch Dermatol Res. 1998 Dec;290(12):656-60. doi: 10.1007/s004030050369. Arch Dermatol Res. 1998. PMID: 9879834

3

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

4

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.

5

Atrichia with papular lesions resulting from a nonsense mutation within the human hairless gene.

Sprecher E, Lestringant GG, Szargel R, Bergman R, Labay V, Frossard PM, Friedman-Birnbaum R, Cohen N. Sprecher E, et al. J Invest Dermatol. 1999 Oct;113(4):687-90. doi: 10.1046/j.1523-1747.1999.00723.x. J Invest Dermatol. 1999. PMID: 10504459 Free article.

6

Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene.

Sprecher E, Shalata A, Dabhah K, Futerman B, Lin S, Szargel R, Bergman R, Friedman-Birnbaum R, Cohen N. Sprecher E, et al. J Am Acad Dermatol. 2000 Jun;42(6):978-82. J Am Acad Dermatol. 2000. PMID: 10827399

7

Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin.

Sprecher E, Bergman R, Richard G, Lurie R, Shalev S, Petronius D, Shalata A, Anbinder Y, Leibu R, Perlman I, Cohen N, Szargel R. Sprecher E, et al. Nat Genet. 2001 Oct;29(2):134-6. doi: 10.1038/ng716. Nat Genet. 2001. PMID: 11544476

8

Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families.

Nakano A, Lestringant GG, Paperna T, Bergman R, Gershoni R, Frossard P, Kanaan M, Meneguzzi G, Richard G, Pfendner E, Uitto J, Pulkkinen L, Sprecher E. Nakano A, et al. Among authors: sprecher e. J Am Acad Dermatol. 2002 Apr;46(4):510-6. doi: 10.1067/mjd.2002.119673. J Am Acad Dermatol. 2002. PMID: 11907499

9

Human telomerase RNA component expression in Spitz nevi, common melanocytic nevi, and malignant melanomas.

Guttman-Yassky E, Bergman R, Manov L, Sprecher E, Shaefer Y, Kerner H. Guttman-Yassky E, et al. Among authors: sprecher e. J Cutan Pathol. 2002 Jul;29(6):341-6. doi: 10.1034/j.1600-0560.2002.290603.x. J Cutan Pathol. 2002. PMID: 12135464

10

A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia.

Klein I, Bergman R, Indelman M, Sprecher E. Klein I, et al. Among authors: sprecher e. J Invest Dermatol. 2002 Oct;119(4):920-2. doi: 10.1046/j.1523-1747.2002.00268.x. J Invest Dermatol. 2002. PMID: 12406339 Free article.

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