Results 101 to 110 of about 7,292 (198)
A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]
, 2012 Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James +4 more
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A Clinical and Genetic Review of Aniridia
Journal of Pediatrics Review, 2015 Aniridia is a congenital pan-ocular, bilateral disorder. The term aniridia is a misleading misnomer, since at least a rudimentary iris is always present. Varied forms range from almost total absence to only mild hypoplasia of the iris.
Reza Jafari, Ahmad Ahmadzadeh Amiri
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Molecular Aspects of Eye Evolution and Development: From the Origin of Retinal Cells to the Future of Regenerative Medicine [PDF]
, 2013 A central issue of evolutionary developmental biology is how the eye is diverged morphologically and functionally. However, the unifying mechanisms or schemes that govern eye diversification remain unsolved.
Ohuchi, Hideyo
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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
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Indian Journal of Ophthalmology, 2018 Purpose: This study aimed to characterize an Asian Indian aniridia family for both the phenotype and genotype of the disease for a better clinical management.
Isham Palayil +5 more
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Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation
Journal of Ophthalmology, 2018 Aniridia is a congenital disease that affects almost all eye structures and is primarily caused by loss-of-function mutations in the PAX6 gene. The degree of vision loss in aniridia varies and is dependent on the extent of foveal, iris, and optic nerve ...
Grace M. Wang +7 more
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Aplasia-Hipoplasia de iris con carácter hereditario en el gos d'atura [PDF]
, 1996 Se describe el patrón clínico de aplasia-hipoplasia de iris, observado en 16 perros de raza Gos d'atura, como enfermedad de probable origen hereditario, no descrito con anterioridad en la especie canina.The clynical standard of aplasia-hipoplasia of iris
Villagrasa Hijar, Manuel
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The zebrafish eye—a paradigm for investigating human ocular genetics [PDF]
, 2016 Although human epidemiological and genetic studies are essential to elucidate the aetiology of normal and aberrant ocular development, animal models have provided us with an understanding of the pathogenesis of multiple developmental ocular malformations.
Moosajee, M +3 more
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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 +4 more
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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 +3 more
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