Literature DB >> 2095017

Colobomatous malformations of the eye.

I H Maumenee1, T N Mitchell.   

Abstract

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Year:  1990        PMID: 2095017      PMCID: PMC1298581     

Source DB:  PubMed          Journal:  Trans Am Ophthalmol Soc        ISSN: 0065-9533


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  29 in total

Review 1.  The Lenz microphthalmia syndrome.

Authors:  E I Traboulsi; W Lenz; M Gonzales-Ramos; J Siegel; W G Macrae; I H Maumenee
Journal:  Am J Ophthalmol       Date:  1988-01-15       Impact factor: 5.258

2.  Congenital malformations of the eye. Report on 218 cases of grave reduction of vision caused by bilateral malformation of the ocular bulb.

Authors:  E Lindstedt
Journal:  Acta Ophthalmol (Copenh)       Date:  1968

3.  Colobomatous malformations of the ocular globe.

Authors:  J Francois
Journal:  Int Ophthalmol Clin       Date:  1968

4.  [Heredity of colobomatous malformations of the eyeball].

Authors:  J François
Journal:  Ann Ocul (Paris)       Date:  1966-06

5.  Poland syndrome associated with 'morning glory' syndrome (coloboma of the optic disc).

Authors:  D T Pisteljić; D Vranjesević; S Apostolski; D D Pisteljić
Journal:  J Med Genet       Date:  1986-08       Impact factor: 6.318

6.  Optic nerve coloboma associated with renal disease.

Authors:  R G Weaver; L F Cashwell; W Lorentz; D Whiteman; K R Geisinger; M Ball
Journal:  Am J Med Genet       Date:  1988-03

Review 7.  Coloboma and microphthalmos in chromosomal aberrations. Chromosomal aberrations and neural crest cell developmental field.

Authors:  M Warburg; U Friedrich
Journal:  Ophthalmic Paediatr Genet       Date:  1987-06

8.  The genetic implications of optic disc anomalies.

Authors:  D S Taylor
Journal:  Trans Ophthalmol Soc U K       Date:  1985

9.  Progressive visual loss caused by an arachnoidal brain cyst in a patient with an optic nerve coloboma.

Authors:  L F Rosenberg; R M Burde
Journal:  Am J Ophthalmol       Date:  1988-09-15       Impact factor: 5.258

10.  Computed tomography of optic nerve colobomas, morning glory anomaly, and colobomatous cyst.

Authors:  M F Mafee; L M Jampol; B G Langer; M Tso
Journal:  Radiol Clin North Am       Date:  1987-07       Impact factor: 2.303

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  16 in total

1.  Clinical and Echographic Features of Retinochoroidal and Optic Nerve Colobomas.

Authors:  Vincent D Venincasa; Yasha S Modi; Hassan A Aziz; Bernadette Ayres; Claus Zehetner; Wei Shi; Timothy G Murray; Harry W Flynn; Audina M Berrocal
Journal:  Invest Ophthalmol Vis Sci       Date:  2015-06       Impact factor: 4.799

2.  Systemic diagnostic testing in patients with apparently isolated uveal coloboma.

Authors:  Nancy Huynh; Delphine Blain; Tanya Glaser; E Lauren Doss; Wadih M Zein; David M Lang; Eva H Baker; Suvimol Hill; Carmen C Brewer; Jeffrey B Kopp; Tanya M Bardakjian; Irene H Maumenee; Bronwyn J Bateman; Brian P Brooks
Journal:  Am J Ophthalmol       Date:  2013-09-05       Impact factor: 5.258

3.  Nf2 fine-tunes proliferation and tissue alignment during closure of the optic fissure in the embryonic mouse eye.

Authors:  Wesley R Sun; Sara Ramirez; Kelly E Spiller; Yan Zhao; Sabine Fuhrmann
Journal:  Hum Mol Genet       Date:  2020-12-18       Impact factor: 6.150

Review 4.  Classification of microphthalmos and coloboma.

Authors:  M Warburg
Journal:  J Med Genet       Date:  1993-08       Impact factor: 6.318

5.  The cellular bases of choroid fissure formation and closure.

Authors:  Cassidy S Bernstein; Mitchell T Anderson; Chintan Gohel; Kayleigh Slater; Jeffrey M Gross; Seema Agarwala
Journal:  Dev Biol       Date:  2018-05-24       Impact factor: 3.582

6.  Incidence, ocular findings, and systemic associations of ocular coloboma: a population-based study.

Authors:  Kelly M Nakamura; Nancy N Diehl; Brian G Mohney
Journal:  Arch Ophthalmol       Date:  2011-01

Review 7.  Toward a better understanding of human eye disease insights from the zebrafish, Danio rerio.

Authors:  Jonathan Bibliowicz; Rachel K Tittle; Jeffrey M Gross
Journal:  Prog Mol Biol Transl Sci       Date:  2011       Impact factor: 3.622

8.  ABCB6 mutations cause ocular coloboma.

Authors:  Lejin Wang; Lejing Wang; Fei He; Juan Bu; Yuanli Zhen; Xiaoqui Liu; Xiaqi Liu; Wei Du; Jiamei Dong; Jeffrey D Cooney; Sushil Kumar Dubey; Yi Shi; Bo Gong; Jing Li; Paul F McBride; Yanlei Jia; Fang Lu; Kathleen A Soltis; Ying Lin; Prasanthi Namburi; Chen Liang; Periasamy Sundaresan; Barry H Paw; Wei Li; Dean Y Li; John D Phillips; Zhenglin Yang
Journal:  Am J Hum Genet       Date:  2012-01-05       Impact factor: 11.025

9.  Expression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closure.

Authors:  Jacob D Brown; Sunit Dutta; Kapil Bharti; Robert F Bonner; Peter J Munson; Igor B Dawid; Amana L Akhtar; Ighovie F Onojafe; Ramakrishna P Alur; Jeffrey M Gross; J Fielding Hejtmancik; Xiaodong Jiao; Wai-Yee Chan; Brian P Brooks
Journal:  Proc Natl Acad Sci U S A       Date:  2009-01-26       Impact factor: 11.205

10.  A case of chorioretinal coloboma in a patient with achondroplasia.

Authors:  Woong Sun Yoo; Yeon Jung Park; Ji Myung Yoo
Journal:  Korean J Ophthalmol       Date:  2010-10-05
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