Sprecher E - Search Results

1

Netherton syndrome is not linked to 18q12, a region homologous to the murine lanceolate hair (lah) locus.

Sprecher E, Bale SJ, DiGiovanna JJ, Uitto J, Richard G. Sprecher E, et al. J Invest Dermatol. 2000 Apr;114(4):741-2. doi: 10.1046/j.1523-1747.2000.00932-3.x. J Invest Dermatol. 2000. PMID: 10745035 Free article. No abstract available.

2

Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix.

Sprecher E, Ishida-Yamamoto A, Becker OM, Marekov L, Miller CJ, Steinert PM, Neldner K, Richard G. Sprecher E, et al. J Invest Dermatol. 2001 Apr;116(4):511-9. doi: 10.1046/j.1523-1747.2001.01292.x. J Invest Dermatol. 2001. PMID: 11286616 Free article.

3

The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.

Sprecher E, Chavanas S, DiGiovanna JJ, Amin S, Nielsen K, Prendiville JS, Silverman R, Esterly NB, Spraker MK, Guelig E, de Luna ML, Williams ML, Buehler B, Siegfried EC, Van Maldergem L, Pfendner E, Bale SJ, Uitto J, Hovnanian A, Richard G. Sprecher E, et al. J Invest Dermatol. 2001 Aug;117(2):179-87. doi: 10.1046/j.1523-1747.2001.01389.x. J Invest Dermatol. 2001. PMID: 11511292 Free article.

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

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.

7

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.

8

Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.

Sprecher E, Yosipovitch G, Bergman R, Ciubutaro D, Indelman M, Pfendner E, Goh LC, Miller CJ, Uitto J, Richard G. Sprecher E, et al. J Invest Dermatol. 2003 Apr;120(4):623-6. doi: 10.1046/j.1523-1747.2003.12084.x. J Invest Dermatol. 2003. PMID: 12648226 Free article.

9

Epidermolysis bullosa simplex in Israel: clinical and genetic features.

Ciubotaru D, Bergman R, Baty D, Indelman M, Pfendner E, Petronius D, Moualem H, Kanaan M, Ben Amitai D, McLean WH, Uitto J, Sprecher E. Ciubotaru D, et al. Among authors: sprecher e. Arch Dermatol. 2003 Apr;139(4):498-505. doi: 10.1001/archderm.139.4.498. Arch Dermatol. 2003. PMID: 12707098

10

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.

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