Results 101 to 110 of about 22,474 (255)

P-11 DMEK in cases with aphakia & aniridia. Three-year experience with the safety net technique [PDF]

, 2023
Alfonso Vasquez-Perez
openalex   +1 more source

Altered Ocular Surface Temperature in Congenital Aniridia with PAX6 Pathogenic Variants: Impact of Age, Salzmann Nodules and Ocular Surgery

Life
PAX6 haploinsufficiency-related congenital aniridia is frequently associated with ocular surface disease, including meibomian gland dysfunction (MGD), dry eye, limbal stem cell deficiency (LSCD), aniridia-associated keratopathy (AAK), and inflammation ...
Orsolya Németh, Annamária Náray, Mária Csidey, Klaudia Kéki-Kovács, Krisztina Knézy, Mária Bausz, Andrea Szigeti, Anita Csorba, Kitti Kormányos, Ditta Zobor, Zoltán Zsolt Nagy, Marta Cortón, Eszter Jávorszky, Kálmán Tory, Erika Maka, Timo Eppig, Achim Langenbucher, Nóra Szentmáry   +17 more
doaj   +1 more source

New Perspectives on Eye Development and the Evolution of Eyes and Photoreceptors [PDF]

, 2017
Recent experiments on the genetic control of eye development have opened up a completely new perspective on eye evolution. The demonstration that targeted expression of one and the same master control gene, that is, Pax6 can induce the formation of ...
Gehring, W. J.
core  

Aniridia and wilms's tumour (nephroblastoma). [PDF]

, 1968
T. F. Mackintosh, T. G. Girdwood, DC Parker, I M Strachan   +3 more
openalex   +1 more source

Patient-derived cornea organoid model to study metabolomic characterization of rare disease: aniridia-associated keratopathy

BMC Ophthalmology
Background Aniridia is a rare panocular disease caused by gene mutation in the PAX6, which is essential for eye development. Aniridia is inherited in an autosomal dominant manner, but its phenotype can vary significantly among individuals with the same ...
Ali Can Koc, Vedat Sari, Gamze Kocak, Tuba Recber, Emirhan Nemutlu, Daniel Aberdam, Sinan Güven   +6 more
doaj   +1 more source

Phenotypic variation in a four-generation family with aniridia carrying a novel PAX6 mutation [PDF]

, 2017
Grace M. Wang, Lev Prasov, Julia E. Richards, Brenda L. Bohnsack   +3 more
openalex   +1 more source

Aplasia-Hipoplasia de iris con carácter hereditario en el gos d'atura [PDF]

, 1996
Se describe el patrón clínico de aplasia-hipoplasia de iris, observado en 16 perros de raza Gos d'atura, como enfermedad de probable origen hereditario, no descrito con anterioridad en la especie canina.The clynical standard of aplasia-hipoplasia of iris
Villagrasa Hijar, Manuel
core  

Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families [PDF]

, 2014
Manèl Chograni, Kaouther Derouiche, Myriam Châabouni, I. Lariani, Habiba Chaabouni Bouhamed   +4 more
openalex   +1 more source

A case of Hallermann-Streiff-Francois syndrome : an ophthalmological perspective [PDF]

, 2017
Hallermann-Streiff-François syndrome is a rare condition which offers multidisciplinary diagnostic and therapeutic challenges. The difficulty in dealing with these cases is compounded by the presentation at a very young age.
Vassallo, James
core  

Meibomian gland dysfunction and keratopathy are associated with dry eye disease in aniridia [PDF]

, 2018
Erlend Christoffer Sommer Landsend, Hilde R. Pedersen, Øygunn Aass Utheim, Jiaxin Xiao, Muhammed Yasin Adil, Behzod Tashbayev, Neil Lagali, Darlene A. Dartt, Rigmor C. Baraas, Tor Paaske Utheim   +9 more
openalex   +1 more source