Results 101 to 110 of about 19,020 (198)

Integrated Analysis of mRNA and microRNA Expression in Corneal Impression Cytology Samples from Patients with <i>PAX6</i>-Related Congenital Aniridia. [PDF]

Int J Mol Sci
Li S, Stachon T, Fries FN, Csidey M, Náray A, Csorba A, Élő Á, Seitz B, Nagy ZZ, Maka E, Corton M, Jávorszky E, Tory K, Ludwig N, Szentmáry N.   +14 more
europepmc   +1 more source

Hypoplasia of the iris: The aniridia spectrum

, 1990
An eleven-month-old boy was seen because of nystagmus and suspected cataract. An initial impression of Rieger\u27s anomaly was corrected to a diagnosis of aniridia syndrome type II after an examination under anesthesia revealed radial iris stromal ...
Parks, M. M., Wilson, M. E., Jaafar, M. S., Traboulsi, E. I.   +3 more
core  

Pediatric WAGR Patient with Aniridia-associated Glaucoma: A Case Report. [PDF]

Acta Med Philipp
Lim-Tanjutco PA, Yap-Veloso MIR.
europepmc   +1 more source

High-performance proteomics reveals immune, epithelial, and vascular dysregulation underlying lacrimal fluid defects in patients with aniridia. [PDF]

BMC Ophthalmol
Willems M, Vialaret J, Girard M, Feret N, Bremond-Gignac D, Chassaing N, Kindermans J, Fichter L, Hirtz C, Mollevi C, Crowdy H, Pequignot M, Delettre C, Daien V, Michon F.   +14 more
europepmc   +1 more source

Aniridia [PDF]

, 2020
openaire   +1 more source

Black diaphragm intraocular lens implantation in complex aphakia with extensive iris loss: An Indian experience. [PDF]

Indian J Ophthalmol
Bhasin P.
europepmc   +1 more source

The importance of DNA analysis in sporadic aniridia

, 1993
Total aniridia was found in a 2-month-old baby boy. Otherwise the baby was healthy. Ophthalmological examination of the elder sister, parents and paternal grandparents revealed no abnormalities. There was no consanguinity between the parents.
Hoovers, J. M., Mäntyjärvi, M., Mannens, M., Bleeker-Wagemakers, E. M., Tuppurainen, K.   +4 more
core  

Cartwheel cataract, a specific sign of PAX6 -related aniridia. [PDF]

J Cataract Refract Surg
Bremond-Gignac D, Daruich A, Valleix S, Robert MP.   +3 more
europepmc   +1 more source

Aniridia [PDF]

Proceedings of the Royal Society of Medicine, 1935
openaire   +1 more source

First pilot study of intrastromal rAAV-PAX6 gene therapy suggests improved corneal thickness and transcription correction in aniridic mouse. [PDF]

Mol Ther Adv
Kaad SG, Lengyell TC, Mirjalili Mohanna SZ, Djaksigulova D, Korecki AJ, Simpson EM.   +5 more
europepmc   +1 more source