Sprecher E - Search Results

1

SAM syndrome is characterized by extensive phenotypic heterogeneity.

Taiber S, Samuelov L, Mohamad J, Barak EC, Sarig O, Shalev SA, Lestringant G, Sprecher E. Taiber S, et al. Among authors: sprecher e. Exp Dermatol. 2018 Jul;27(7):787-790. doi: 10.1111/exd.13551. Exp Dermatol. 2018. PMID: 29604126 Review.

2

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.

3

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

4

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

5

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

6

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.

7

Compound heterozygosity for mutations in the hairless gene causes atrichia with papular lesions.

Indelman M, Bergman R, Lestringant GG, Peer G, Sprecher E. Indelman M, et al. Among authors: sprecher e. Br J Dermatol. 2003 Mar;148(3):553-7. doi: 10.1046/j.1365-2133.2003.05177.x. Br J Dermatol. 2003. PMID: 12653749

8

Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy.

Indelman M, Hamel CP, Bergman R, Nischal KK, Thompson D, Surget MO, Ramon M, Ganthos H, Miller B, Richard G, Lurie R, Leibu R, Russell-Eggitt I, Sprecher E. Indelman M, et al. Among authors: sprecher e. J Invest Dermatol. 2003 Nov;121(5):1217-20. doi: 10.1046/j.1523-1747.2003.12550_1.x. J Invest Dermatol. 2003. PMID: 14708629 Free article.

9

Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome.

Sprecher E, Tesfaye-Kedjela A, Ratajczak P, Bergman R, Richard G. Sprecher E, et al. Clin Exp Dermatol. 2004 Sep;29(5):513-7. doi: 10.1111/j.1365-2230.2004.01589.x. Clin Exp Dermatol. 2004. PMID: 15347338

10

Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1.

Tal O, Bergman R, Alcalay J, Indelman M, Sprecher E. Tal O, et al. Among authors: sprecher e. Clin Exp Dermatol. 2005 Jan;30(1):64-7. doi: 10.1111/j.1365-2230.2004.01661.x. Clin Exp Dermatol. 2005. PMID: 15663507

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