Results 101 to 110 of about 246,741 (174)

A rare case of congenital aniridia with an unusual run-on mutation in PAX6 gene. [PDF]

Indian J Ophthalmol, 2022
Ratna R, Tibrewal S, Gour A, Gupta R, Mathur U, Vanita V.   +5 more
europepmc   +1 more source

Self-reported symptoms of everyday executive dysfunction, daytime sleepiness, and fatigue and health status among adults with congenital aniridia: a descriptive study. [PDF]

Health Psychol Behav Med, 2023
Sigurdardottir S, von der Lippe C, Media L, Ullmann Miller J, Landsend ECS.   +4 more
europepmc   +1 more source

Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia. [PDF]

Int J Mol Sci, 2023
Tamayo A, Núñez-Moreno G, Ruiz C, Plaisancie J, Damian A, Moya J, Chassaing N, Calvas P, Ayuso C, Minguez P, Corton M.   +10 more
europepmc   +1 more source

Congenital aniridia with ectopia lentis and unilateral buphthalmos: an unusual presentation. [PDF]

BMJ Case Rep, 2021
Puthalath AS, Gupta N, Samanta R, Verma PK.   +3 more
europepmc   +1 more source

Patient-Derived Immortalized Limbal Epithelial Cells as In Vitro Models of Congenital Aniridia. [PDF]

Cells
Stachon T, Suiwal S, Kumar V, May T, Schmitz F, Amini M, Fries FN, Seitz B, Hsu SL, Li S, Liu S, Kundu S, Ludwig N, Szentmáry N.   +13 more
europepmc   +1 more source

An attempt to optimize the outcome of penetrating keratoplasty in congenital aniridia-associated keratopathy (AAK). [PDF]

Int Ophthalmol, 2021
Farah CJ, Fries FN, Latta L, Käsmann-Kellner B, Seitz B.   +4 more
europepmc   +1 more source

Exploring the human experience of congenital aniridia: A narrative medicine approach. [PDF]

Eur J Ophthalmol
Ancona C, Marini MG, Minetti F, Csidey M, Maka E, Stachon T, Fries FN, Poli B, Kildsgaard I, Bremond-Gignac D, Szentmáry N, Lagali N, Romano V.   +12 more
europepmc   +1 more source

Commentary: Long-Term Anatomical and Functional Survival of Boston Type 1 Keratoprosthesis in Congenital Aniridia. [PDF]

Front Med (Lausanne), 2021
Yang Y, Tong CM, Dahoud A, Harissi-Dagher M.   +3 more
europepmc   +1 more source

Integrated Analysis of mRNA and microRNA Expression in Corneal Impression Cytology Samples from Patients with <i>PAX6</i>-Related Congenital Aniridia. [PDF]

Int J Mol Sci
Li S, Stachon T, Fries FN, Csidey M, Náray A, Csorba A, Élő Á, Seitz B, Nagy ZZ, Maka E, Corton M, Jávorszky E, Tory K, Ludwig N, Szentmáry N.   +14 more
europepmc   +1 more source

Long-Term Anatomical and Functional Survival of Boston Type 1 Keratoprosthesis in Congenital Aniridia. [PDF]

Front Med (Lausanne), 2021
Dyer A, De Faria A, Julio G, Álvarez de Toledo J, Barraquer RI, de la Paz MF.   +5 more
europepmc   +1 more source