Results 101 to 110 of about 5,544 (177)

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

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

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

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

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

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

Congenital aniridia: clinical profile of children seen at the University College Hospital, Ibadan, South-West Nigeria. [PDF]

Ther Adv Ophthalmol, 2021
Ugalahi MO, Ibukun FA, Olusanya BA, Baiyeroju AM.   +3 more
europepmc   +1 more source

Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations. [PDF]

Ophthalmol Ther
Hall J, Corton M, Fries FN, Obst J, Grünauer-Kloevekorn C, Seitz B, Waizel MDV, Jávorszky E, Tory K, Maka E, Amini M, Suiwal S, Stachon T, Szentmáry N.   +13 more
europepmc   +1 more source

Congenital aniridia: bilateral phacoemulsification and IOL implantation. [PDF]

Eye (Lond)
Yang L, Yang Y, Yang Y.
europepmc   +1 more source