Results 91 to 100 of about 5,544 (177)

Aniridia, Gonadoblastoma, Wilms' Tumor and Deletion 11p13

Acta Medica, 1998
An incidence of bilateral gonadoblastoma in a 23-month old, mentally retarded boy with congenital sporadic aniridia, undescended dysgenetic testes, deletion of a chromosome (11) (p1302p14.2) and a later occurring unilateral Wilms' tumor is reported.
Hvězdoslav Stefan, Vladimír Semecký
doaj   +1 more source

Congenital aniridia - A comprehensive review of clinical features and therapeutic approaches

, 2021
Congenital aniridia is a rare genetic eye disorder with total or partial absence of the iris from birth. In most cases the genetic origin of aniridia is a mutation in the PAX6 gene, lead-ing to involvement of most eye structures.
Utheim, Tor P.,, Landsend, Erlend C. S.,, Lagali, Neil, Landsend, Erlend C. S., Utheim, Tor P., Lagali, Neil,   +5 more
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Protecting Pax6 3′ UTR from MicroRNA-7 Partially Restores PAX6 in Islets from an Aniridia Mouse Model

Molecular Therapy: Nucleic Acids, 2018
Aniridia is a rare congenital syndrome that is associated with reduced visual acuity and progressive loss of vision. Aniridia patients may also develop systemic health issues associated with defects in the pancreas, digestive, and central nervous systems.
Kevin Yongblah, Spencer C. Alford, Bridget C. Ryan, Robert L. Chow, Perry L. Howard   +4 more
doaj   +1 more source

Aniridia-Wilms′ tumour syndrome-A case report

Indian Journal of Ophthalmology, 1992
Wilms′ tumour is rarely associated with sporadic non-familial congenital aniridia. A child with sporadic aniridia has a 25% chance of subsequently developing Wilms′ tumour.
Vidyasagar M, Sagar Sudha, Kumar Girija, Rao PLNG   +3 more
doaj  

Immunohistochemical expression of epithelial cell markers in corneas with congenital aniridia and ocular cicatrizing pemphigoid

, 2011
We investigated the immunohistochemical characteristics of corneal specimens in congenital aniridia and pemphigoid using various corneal markers to determine the status of the corneal ...
Gabbert, Helmut Erich, Agrawal, Manisha, Meyer, Peter, Arnold, Nicole, Auw-Haedrich, Claudia, Reinhard, Thomas   +5 more
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Clinical And Molecular-Genetic Features Of Congenital Aniridia [PDF]

, 2018
Vasilyeva T. A.1, Voskresenskaya A. A.2, Kadyshev V. V.1, Pozdeyeva N. A.2, Marakhonov A. V.1,3, Zinchenko R. A.1,4 1 Research Center for Medical Genetics, Moscow 2 Cheboksary branch of S.
Voskresenskaya A. A, A.V. Marakhonov, T.A. Vasilieva, V.V. Kadyshev, N.A. Pozdeeva, R.A. Zinchenko   +5 more
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Gene expression study in the siRNA based aniridia cell model and in primary aniridia limbal epithelial cells following duloxetine and ritanserin treatment.

PLoS ONE
Progressive aniridia associated keratopathy is worsening visual acuity of congenital aniridia subjects lifelong. Restoration of PAX6 expression in PAX6 haploinsufficient limbal epithelial cells could be one therapeutic option.
Shweta Suiwal, Tanja Stachon, Zhen Li, Marta Corton, Mahsa Nastaranpour, Ning Chai, Maryam Amini, Berthold Seitz, Fabian N Fries, Thomas Tschernig, Nóra Szentmáry   +10 more
doaj   +1 more source

Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient. [PDF]

Int J Mol Sci, 2023
Vasilyeva TA, Sukhanova NV, Marakhonov AV, Kuzina NY, Shilova NV, Kadyshev VV, Kutsev SI, Zinchenko RA.   +7 more
europepmc   +1 more source

Rod and Cone Dark Adaptation in Congenital Aniridia and Its Association With Retinal Structure. [PDF]

Invest Ophthalmol Vis Sci, 2023
Pedersen HR, Gilson SJ, Landsend ECS, Utheim ØA, Utheim TP, Baraas RC.   +5 more
europepmc   +1 more source

Wilms' Tumor Associated with Congenital Aniridia [PDF]

, 1976
The third case of the aniridia-Wilms' tumor complex in Japan is reporetd herein. The patient received a radical nephrectomy and survived the period of risk. A radiotherapy and six series of chemotherapy treatments have been used for adjuvant therapy.
Kiriyama, Tadao, Kamiryo, Yoriaki
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