Results 111 to 120 of about 17,913 (203)

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

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

Congenital aniridia.

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

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

Elevated anti-apoptotic shift in primary human aniridia limbal stromal cells following 48 hours supraphysiological glucose exposure, in vitro. [PDF]

PLoS One
Liu S, Li S, Hsu SL, Fries FN, Li Z, Kundu S, Seitz B, Amini M, Suiwal S, Stachon T, Szentmáry N.   +10 more
europepmc   +1 more source

A CONSIDERATION OF ANIRIDIA, WITH A PEDIGREE [PDF]

British Journal of Ophthalmology, 1947
openaire   +2 more sources

Epigenetic, Genetic, and Functional Germline Alterations of <i>PAX</i> Genes in Human Pathology: A Comprehensive Update. [PDF]

Curr Issues Mol Biol
Gomez VL, Wegner S, Ocejo S, Perez D, Jabbour D, Fernandez V, Abulaban A, Bahmad M, Elajami TK, Abou-Kheir W, Bahmad HF.   +10 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

Proinflammatory gene and protein expression alterations in human limbal aniridia fibroblasts. [PDF]

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

PAX6 Deficiency Compromises the Ability of Limbal Epithelial Stem Cells to Properly Differentiate Into Mature Corneal Epithelial Cells. [PDF]

Invest Ophthalmol Vis Sci
Foroozandeh P, Kaplan N, Qi X, Yang W, Chen X, Lee SK, Ren Z, Lavker RM, Kume T, Peng H.   +9 more
europepmc   +1 more source