Results 111 to 120 of about 19,020 (198)

Impact of <i>PAX6</i>-Related Congenital Aniridia on Corneal Diameter, Central Corneal Thickness and Keratometry. [PDF]

J Clin Med
Kormányos K, Csákány B, Csidey M, Náray A, Kéki-Kovács K, Németh O, Knézy K, Bausz M, Szigeti A, Csorba A, Szabó D, Corton M, Tory K, Jávorszky E, Nagy ZZ, Langenbucher A, Maka E, Szentmáry N.   +17 more
europepmc   +1 more source

Clinical practice guideline for aniridia. [PDF]

Jpn J Ophthalmol
Research on rare and intractable diseases, Health, Labour and Welfare Sciences Research Grants Clinical Practice Guideline Development Committee for Aniridia of the “Research group on establishing standardized diagnosis and treatment of Intractable corneal diseases”.   +2 more
europepmc   +1 more source

Congenital aniridia.

Indian journal of ophthalmology, 1980
Sen N, George N, Munjal V, Dhir S, Jain I   +4 more
openaire   +2 more sources

A mixed methods study of the impact of WAGR spectrum disorder on individuals and their caregivers. [PDF]

Orphanet J Rare Dis
Sistare EV, George AM, Hathaway ER, Trout KL, Morris J, Krantz SM, Kalish JM.   +6 more
europepmc   +1 more source

Small Copy Number Neutral Intrachromosomal Translocation of PAX6 and Aniridia.

JAMA Ophthalmol
Reis LM, Tomei J, Gallagher R, Matter A, Carroll J, Broeckel U, Semina EV.   +6 more
europepmc   +1 more source

Preclinical Models of Rare Corneal and Ocular Surface Diseases: a Comprehensive Narrative Review. [PDF]

Ophthalmol Ther
Lecchi EAL, Dashti A, Frutos-Rincón L, Palombella S, Pederzolli M, Gallar J, Lagali N, Ferrari G.   +7 more
europepmc   +1 more source

Gillespie Syndrome: Greek Patient with Novel Mutation and Atypical Presentation - Expansion of the Phenotype and Literature Review. [PDF]

Mol Syndromol
Lithoxopoulou M, Alvanou M, Pavlidou E, Tziola T, Babatseva E, Drogouti E, Tramma D, Sterpi M, Papadopoulou A, Seliniotaki AK, Diamanti E, Tsakalidis C, Mataftsi A, Ververi A.   +13 more
europepmc   +1 more source

A CONSIDERATION OF ANIRIDIA, WITH A PEDIGREE [PDF]

British Journal of Ophthalmology, 1947
openaire   +2 more sources

Correction: Clinical practice guideline for anterior segment dysgenesis. [PDF]

Jpn J Ophthalmol
Research on rare and intractable diseases, Health, Labour and Welfare Sciences Research Grants Clinical Practice Guideline Development Committee for Anterior segment dysgenesis of the “Research group on establishing standardized diagnosis and treatment of Intractable corneal diseases”.   +2 more
europepmc   +1 more source

Fatty acid-binding protein 5 (FABP5) modulates limbal epithelial cell homeostasis by regulating the expression of key genes under both normal and inflammatory conditions, in vitro. [PDF]

PLoS One
Amini M, Hsu SL, Stachon T, Li Z, Chai N, Fries FN, Seitz B, Kundu S, Suiwal S, Szentmáry N.   +9 more
europepmc   +1 more source