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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

310 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa.
Terracina M, Posteraro P, Schubert M, Sonego G, Atzori F, Zambruno G, Bruckner-Tuderman L, Castiglia D. Terracina M, et al. Among authors: zambruno g. J Invest Dermatol. 1998 Nov;111(5):744-50. doi: 10.1046/j.1523-1747.1998.00397.x. J Invest Dermatol. 1998. PMID: 9804332 Free article.
A homozygous nonsense mutation in type XVII collagen gene (COL17A1) uncovers an alternatively spliced mRNA accounting for an unusually mild form of non-Herlitz junctional epidermolysis bullosa.
Ruzzi L, Pas H, Posteraro P, Mazzanti C, Didona B, Owaribe K, Meneguzzi G, Zambruno G, Castiglia D, D'Alessio M. Ruzzi L, et al. Among authors: zambruno g. J Invest Dermatol. 2001 Jan;116(1):182-7. doi: 10.1046/j.1523-1747.2001.00229.x. J Invest Dermatol. 2001. PMID: 11168815 Free article.
Gene correction of integrin beta4-dependent pyloric atresia-junctional epidermolysis bullosa keratinocytes establishes a role for beta4 tyrosines 1422 and 1440 in hemidesmosome assembly.
Dellambra E, Prislei S, Salvati AL, Madeddu ML, Golisano O, Siviero E, Bondanza S, Cicuzza S, Orecchia A, Giancotti FG, Zambruno G, De Luca M. Dellambra E, et al. Among authors: zambruno g. J Biol Chem. 2001 Nov 2;276(44):41336-42. doi: 10.1074/jbc.M103139200. Epub 2001 Aug 24. J Biol Chem. 2001. PMID: 11522777 Free article.
310 results