Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

570 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.
Warshauer EM, Brown A, Fuentes I, Shortt J, Gignoux C, Montinaro F, Metspalu M, Youssefian L, Vahidnezhad H, Jacków J, Christiano AM, Uitto J, Fajardo-Ramírez ÓR, Salas-Alanis JC, McGrath JA, Consuegra L, Rivera C, Maier PA, Runfeldt G, Behar DM, Skorecki K, Sprecher E, Palisson F, Norris DA, Bruckner AL, Kogut I, Bilousova G, Roop DR. Warshauer EM, et al. Among authors: sprecher e. Am J Med Genet A. 2021 Nov;185(11):3390-3400. doi: 10.1002/ajmg.a.62456. Epub 2021 Aug 26. Am J Med Genet A. 2021. PMID: 34435747 Free PMC article.
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
Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata.
Chuang GS, Martinez-Mir A, Geyer A, Engler DE, Glaser B, Cserhalmi-Friedman PB, Gordon D, Horev L, Lukash B, Herman E, Cid MP, Brenner S, Landau M, Sprecher E, Garcia Muret MP, Christiano AM, Zlotogorski A. Chuang GS, et al. Among authors: sprecher e. J Am Acad Dermatol. 2005 Mar;52(3 Pt 1):410-6. doi: 10.1016/j.jaad.2004.08.051. J Am Acad Dermatol. 2005. PMID: 15761418 Free article.
Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.
Abu Sa'd J, Indelman M, Pfendner E, Falik-Zaccai TC, Mizrachi-Koren M, Shalev S, Ben Amitai D, Raas-Rothshild A, Adir-Shani A, Borochowitz ZU, Gershoni-Baruch R, Khayat M, Landau D, Richard G, Bergman R, Uitto J, Kanaan M, Sprecher E. Abu Sa'd J, et al. Among authors: sprecher e. J Invest Dermatol. 2006 Apr;126(4):777-81. doi: 10.1038/sj.jid.5700163. J Invest Dermatol. 2006. PMID: 16439963 Free article.
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.
570 results