Mostrando 5 resultados de: 5
Filtros aplicados
Subtipo de publicación
Article(5)
Publisher
Investigative Ophthalmology and Visual Science(2)
European Journal of Human Genetics(1)
Molecular Vision(1)
Ophthalmic Genetics(1)
Área temáticas
Fisiología humana(3)
Bioquímica(2)
Cirugía y especialidades médicas afines(1)
Farmacología y terapéutica(1)
Medicina y salud(1)
Área de conocimiento
Genética(5)
Origen
scopus(5)
Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador
ArticleAbstract: Purpose: To determine the role of cytochrome P4501B1 (CYP1B1) mutations in causing primary congenitaPalabras claves:Congenital glaucoma, CYP1B1, ECUADOR, MutationsAutores:Andrea Molinari, Bejjani B.A., Curry S.M., Daou A.G., Hermanns P., Lewis R.A.Fuentes:scopusNovel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus
ArticleAbstract: Keratoconus (KTCN), a non-inflammatory corneal disorder characterized by stromal thinning, representPalabras claves:DOCK9, IPO5, Keratoconus, keratoconus 13q32 locus, keratoconus gene, STK24Autores:Andrea Molinari, Bejjani B.A., Czugala M., Gajecka M., Karolak J.A., Nowak D.M., Pitarque J.A., Polakowski P., Rydzanicz M., Szaflik J.P., Yue B.Y.J.T.Fuentes:scopusSequence variants in COL4A1 and COL4A2 genes in ecuadorian families with keratoconus
ArticleAbstract: Purpose: Keratoconus (KTCN) is a non-inflammatory, usually bilateral disorder of the eye which resulPalabras claves:Autores:Andrea Molinari, Bejjani B.A., Gajecka M., Karolak J.A., Kulinska K., Nowak D.M., Pitarque J.A., Rydzanicz M.Fuentes:scopusVariant c.2262A>C in DOCK9 leads to exon skipping in keratoconus family
ArticleAbstract: PURPOSE. Keratoconus (KTCN) is a degenerative disorder of the eye that is characterized by a conicalPalabras claves:DOCK9, Exon skipping, Keratoconus, Keratoconus genetics, Splicing alteration, Splicing assayAutores:Andrea Molinari, Bejjani B.A., Gajecka M., Ginter-Matuszewska B., Karolak J.A., Pitarque J.A., Rydzanicz M.Fuentes:scopusSubstitution at IL1RN and deletion at SLC4A11 segregating with phenotype in familial Keratoconus
ArticleAbstract: PURPOSE. Keratoconus (KTCN) is a thinning and anterior protrusion of the cornea that results in altePalabras claves:Autores:Andrea Molinari, Bejjani B.A., Gajecka M., Gut M., Karolak J.A., Kubiak J., Nowak D.M., Pitarque J.A.Fuentes:scopus