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Literature DB >> 31708273

PAX6 Mutational Status Determines Aniridia-Associated Keratopathy Phenotype.

Neil Lagali¹, Bogumil Wowra², Fabian Norbert Fries³, Lorenz Latta³, Kayed Moslemani³, Tor Paaske Utheim⁴, Edward Wylegala², Berthold Seitz³, Barbara Käsmann-Kellner³.

Abstract

Entities: Disease Gene

Year: 2019 PMID： 31708273 DOI： 10.1016/j.ophtha.2019.09.034

Source DB: PubMed Journal: Ophthalmology ISSN： 0161-6420 Impact factor: 12.079

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9 in total

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

Authors: Mary Ogbenyi Ugalahi; Folahan Adesola Ibukun; Bolutife Ayokunnu Olusanya; Aderonke Mojisola Baiyeroju
Journal: Ther Adv Ophthalmol Date: 2021-05-31

2. A novel variant in PAX6 as the cause of aniridia in a Chinese family.

Authors: X Jin; W Liu; L H Qv; W Q X; H B Huang
Journal: BMC Ophthalmol Date: 2021-05-20 Impact factor: 2.209

3. A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus.

Authors: Tianwei Qian; Chong Chen; Caihua Li; Qiaoyun Gong; Kun Liu; Gao Wang; Isabelle Schrauwen; Xun Xu
Journal: BMC Ophthalmol Date: 2021-10-05 Impact factor: 2.209

4. Outcomes of Human Leukocyte Antigen-Matched Allogeneic Cultivated Limbal Epithelial Transplantation in Aniridia-Associated Keratopathy-A Single-Center Retrospective Analysis.

Authors: Joséphine Behaegel; Marie-José Tassignon; Neil Lagali; Alejandra Consejo; Carina Koppen; Sorcha Ní Dhubhghaill
Journal: Cornea Date: 2022-01-01 Impact factor: 3.152

PAX6 Mutational Status Determines Aniridia-Associated Keratopathy Phenotype.

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

2. A novel variant in PAX6 as the cause of aniridia in a Chinese family.

3. A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus.

4. Outcomes of Human Leukocyte Antigen-Matched Allogeneic Cultivated Limbal Epithelial Transplantation in Aniridia-Associated Keratopathy-A Single-Center Retrospective Analysis.

Review 5. Clinical and molecular aspects of congenital aniridia - A review of current concepts.

6. Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani Families.

7. Mutation spectrum of PAX6 and clinical findings in 95 Chinese patients with aniridia.

Review 8. The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye.

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