نتایج جستجو برای: coloboma

تعداد نتایج: 879  

2012
Shuyi Chen Brandy Lewis Andrea Moran Ting Xie

Coloboma is a congenital disease that contributes significantly to childhood blindness. It results from the failure in closing the optic fissure, a transient opening on the ventral side of the developing eye. Although human and mouse genetic studies have identified a number of genes associated with coloboma, the detailed cellular mechanisms underlying the optic fissure closure and coloboma form...

Journal: :JAMA ophthalmology 2013
Simon E Skalicky Andrew J R White John R Grigg Frank Martin Jeremy Smith Michael Jones Craig Donaldson James E H Smith Maree Flaherty Robyn V Jamieson

IMPORTANCE Microphthalmia, anophthalmia, and coloboma form an interrelated spectrum of congenital eye abnormalities. OBJECTIVE To document the ocular and systemic findings and inheritance patterns in patients with microphthalmia, anophthalmia, and coloboma disease to gain insight into the underlying developmental etiologies. DESIGN, SETTING, AND PARTICIPANTS This retrospective consecutive c...

Journal: :Journal of medical genetics 1970
C I Phillips

Journal: :Proceedings of the Royal Society of Medicine 1922

Journal: :British Journal of Ophthalmology 2005

Journal: :JAMA: The Journal of the American Medical Association 1900

Journal: :The Korean Journal of Internal Medicine 2021

Journal: :Proceedings of the Royal Society of Medicine 1921

Journal: :Proceedings of the Royal Society of Medicine 1930

Journal: :Indian Journal of Ophthalmology 2019

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