Literature DB >> 19461663

Case of novel PITX2 gene mutation associated with Peters' anomaly and persistent hyperplastic primary vitreous.

A Arikawa, S Yoshida, H Yoshikawa, K Ishikawa, Y Yamaji, R-I Arita, A Ueno, T Ishibashi.   

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Year:  2009        PMID： 19461663     DOI： 10.1038/eye.2009.114

Source DB:  PubMed          Journal:  Eye (Lond)        ISSN： 0950-222X            Impact factor:   3.775


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  10 in total

Review 1.  Pitx genes in development and disease.

Authors:  Thai Q Tran; Chrissa Kioussi
Journal:  Cell Mol Life Sci       Date:  2021-04-12       Impact factor: 9.261

Review 2.  Genetics of anterior segment dysgenesis disorders.

Authors:  Linda M Reis; Elena V Semina
Journal:  Curr Opin Ophthalmol       Date:  2011-09       Impact factor: 3.761

3.  Studies of a pedigree with limbal dermoid cyst.

Authors:  Jing Zhu; Hong-Bo Cheng; Ning Fan; Chun-Ming Liu; Wen-Han Yu; Xiao-Ming Chen; Xu-Yang Liu
Journal:  Int J Ophthalmol       Date:  2012-10-18       Impact factor: 1.779

Review 4.  Chromosome abnormalities and the genetics of congenital corneal opacification.

Authors:  A Mataftsi; L Islam; D Kelberman; J C Sowden; K K Nischal
Journal:  Mol Vis       Date:  2011-06-17       Impact factor: 2.367

5.  pitx2 Deficiency results in abnormal ocular and craniofacial development in zebrafish.

Authors:  Yi Liu; Elena V Semina
Journal:  PLoS One       Date:  2012-01-27       Impact factor: 3.240

6.  Peters anomaly with post axial polydactyly, bilateral camptodactyly and club foot in a Kenyan neonate: a case report.

Authors:  Aruyaru Stanley Mwenda
Journal:  J Med Case Rep       Date:  2012-01-17

7.  PITX2 deficiency and associated human disease: insights from the zebrafish model.

Authors:  Kathryn E Hendee; Elena A Sorokina; Sanaa S Muheisen; Linda M Reis; Rebecca C Tyler; Vujica Markovic; Goran Cuturilo; Brian A Link; Elena V Semina
Journal:  Hum Mol Genet       Date:  2018-05-15       Impact factor: 6.150

Review 8.  Genetics Underlying the Interactions between Neural Crest Cells and Eye Development.

Authors:  Jochen Weigele; Brenda L Bohnsack
Journal:  J Dev Biol       Date:  2020-11-10

Review 9.  Case report of the rare Peters' anomaly complicated with Axenfeld-Rieger syndrome: A case report and brief review of the literature.

Authors:  Yong Meng; Guohua Lu; Yang Xie; Xincheng Sun; Liqin Huang
Journal:  Medicine (Baltimore)       Date:  2022-01-14       Impact factor: 1.817

10.  Absence of NR2E1 mutations in patients with aniridia.

Authors:  Ximena Corso-Díaz; Adrienne E Borrie; Russell Bonaguro; Johanna M Schuetz; Thomas Rosenberg; Hanne Jensen; Brian P Brooks; Ian M Macdonald; Francesca Pasutto; Michael A Walter; Karen Grønskov; Angela Brooks-Wilson; Elizabeth M Simpson
Journal:  Mol Vis       Date:  2012-11-22       Impact factor: 2.367
  10 in total

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