Mostrando 6 resultados de: 6
Filtros aplicados
Subtipo de publicación
Article(6)
Publisher
Investigative Ophthalmology and Visual Science(3)
European Journal of Human Genetics(1)
Molecular Vision(1)
Ophthalmic Genetics(1)
Área temáticas
Enfermedades(5)
Bioquímica(3)
Fisiología humana(3)
Anatomía humana, citología, histología(1)
Cirugía y especialidades médicas afines(1)
Área de conocimiento
Genética(6)
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:scopusLocalization of a gene for keratoconus to a 5.6-Mb interval on 13q32
ArticleAbstract: Purpose: Keratoconus (KTCN) is a noninflammatory thinning and anterior protrusion of the cornea thatPalabras claves:Autores:Andrea Molinari, Bejjani B.A., Ewing K., Gajecka M., Leal S.M., Lee K., Nath S.K., Pitarque J.A., Radhakrishna U., Ratnamala U., Rydzanicz M., Winters D.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