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Showing 10 out of a total of 10 results for collection: Dermatology - Faculty Publications. (0.011 seconds)

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Identification of two novel mutations in SLC29A3 encoding an equilibrative nucleoside transporter (hENT3) in two distinct Syrian families with H syndrome: Expression studies of SLC29A3 (hENT3) in human skin

Farooq M.; Moustafa R.M.; Fujimoto A.; Fujikawa H.; Abbas O.; Kibbi A.G.; Kurban M.; Shimomura Y. (BASEL, 2012)
A Homozygous Frameshift Mutation in the HOXC13 Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family

Farooq M.; Kurban M.; Fujimoto A.; Fujikawa H.; Abbas O.; Nemer G.; Saliba J.; Sleiman R.; Tofaili M.; Kibbi A.-G.; Ito M.; Shimomura Y. (HOBOKEN, 2013)
A novel mutation in the PLCD1 gene, which leads to an aberrant splicing event, underlies autosomal recessive leuconychia

Farooq M.; Kurban M.; Abbas O.; Obeidat O.; Fujikawa H.; Kibbi A.-G.; Fujimoto A.; Shimomura Y. (HOBOKEN, 2012)
Evidence for a founder mutation in the cathepsin C gene in three families with papillon-lefèvre syndrome

Kurban M.; Wajid M.; Shimomura Y.; Bahhady R.; Kibbi A.-G.; Christiano A.M. (BASEL, 2009)
Nonsense mutation in the ALOX12B gene leads to autosomal recessive congenital ichthyosis in a Lebanese family

Kurban M.; Shimomura Y.; Bahhady R.; Ghosn S.; Kibbi A.-G.; Christiano A.M. (MALDEN, 2010)
A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient

Kurban M.; Ghosn S.; Abbas O.; Shimomura Y.; Christiano A. (CLARE, 2010)
Acrodermatitis continua of hallopeau is a clinical phenotype of DITRA: Evidence that it is a variant of pustular psoriasis

Abbas O.; Itani S.; Ghosn S.; Kibbi A.G.; Fidawi G.; Farooq M.; Shimomura Y.; Kurban M. (BASEL, 2013)
Netherton syndrome showing a large clinical overlap with generalized inflammatory peeling skin syndrome

Farooq M.; Kurban M.; Abbas O.; Kibbi A.-G.; Fujimoto A.; Fujikawa H.; Shimomura Y. (MONTROUGE, 2012)
GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63

Fujimoto A.; Kurban M.; Nakamura M.; Farooq M.; Fujikawa H.; Kibbi A.-G.; Ito M.; Dahdah M.; Matta M.; Diab H.; Shimomura Y. (CLARE, 2013)
Genetic analysis of epidermolysis bullosa: Identification of mutations in LAMB3 and COL7A1 genes in three families

Farooq M.; Kurban M.; Iguchi R.; Abbas O.; Fujimoto A.; Fujikawa H.; Bourji L.; Sleiman R.; Itani S.; Succariah F.; Kibbi A.G.; Shimomura Y. (CLARE, 2013)

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