Results 121 to 130 of about 7,292 (198)

Heredity in Relation to the Eye [PDF]

, 1913
A great and steadily increasing interest in the ocular effects of heredity has arisen in recent years, and much knowledge has been acquired by the collective work of many investigators of this hitherto neglected subject. Of all the patient and productive
Libby, George Franklin
core   +2 more sources

[Familial occurrence of congenital aniridia].

Klinika oczna, 1993
Aniridia and coloboma iridis are congenital defects which are inherited in common as an autosomal dominant trait. The study presents an analysis of 15 pedigrees of 15 patients from 3 families; it confirms the hereditary character of aniridia and iris coloboma and indicates the variability of the genetic expression.
R, Zalewska, A T, Midro, A, Bakunowicz-Lazarczyk, E, Proniewska-Skretek   +3 more
openaire   +1 more source

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

Congenital neurodevelopmental anomalies in pediatric and young adult cancer [PDF]

, 2017
Agha, Altmann, Bailey, Baptiste, Birch, Birch, Bjorge, Bjorge, Botto, Bueno, Bursen, Carozza, Chmielecki, Ciofi, Dawson, DeBaun, Durmaz, Fisher, Gold, Good, Greenough, Hall, Harris, Hoyert, Janitz, Johnson, Johnson, Jones, Knapke, Korf, Mallol-Mesnard, Mathews, Matsumoto, McCarthy, Mili, Mili, Miller, Montes, Moore, Narod, Nishi, Partap, Rankin, Riccardi, Rice, Rios, Rosano, Samuelsen, Schmidt, Shu, Steliarova-Foucher, Sun, Sun, Sun, Vogelstein, Wilson, Windham, Witelson, Yoon, Zhang   +59 more
core   +2 more sources

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

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

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

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

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