Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1–q35.3 susceptibility locus identified by whole-exome sequencing

Por Karolak, Justyna A, Gambin, Tomasz, Pitarque, Jose A, Molinari, Andrea, Jhangiani, Shalini, Stankiewicz, Pawel, Lupski, James R, Gajecka, Marzena
Publicado no Eur J Hum Genet (2016)

Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus

Por Karolak, Justyna A., Kulinska, Karolina, Nowak, Dorota M., Pitarque, Jose A., Molinari, Andrea, Rydzanicz, Malgorzata, Bejjani, Bassem A., Gajecka, Marzena
Publicado em 2011

Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus

Por Czugala, Marta, Karolak, Justyna A, Nowak, Dorota M, Polakowski, Piotr, Pitarque, Jose, Molinari, Andrea, Rydzanicz, Malgorzata, Bejjani, Bassem A, Yue, Beatrice Y J T, Szaflik, Jacek P, Gajecka, Marzena
Publicado em 2012

Localization of a Gene for Keratoconus to a 5.6-Mb Interval on 13q32

Por Gajecka, Marzena, Radhakrishna, Uppala, Winters, Daniel, Nath, Swapan K., Rydzanicz, Malgorzata, Ratnamala, Uppala, Ewing, Kimberly, Molinari, Andrea, Pitarque, Jose A., Lee, Kwanghyuk, Leal, Suzanne M., Bejjani, Bassem A.
Publicado no Invest Ophthalmol Vis Sci (2008)