Literature DB >> 18332331

Developmental glaucoma with chromosomal abnormalities of 9p deletion and 13q duplication.

Rei Sakata, Tomohiko Usui, Masakazu Mimaki, Makoto Araie.   

Abstract

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Year:  2008        PMID： 18332331     DOI： 10.1001/archopht.126.3.431

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN： 0003-9950


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  5 in total

1.  Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3-q21.2 and screening of the candidate genes.

Authors:  Sulman Basit; Syed Kamran-ul-Hassan Naqvi; Muhammad Ansar; Wasim Ahmad
Journal:  Hum Genet       Date:  2011-08-30       Impact factor: 4.132

2.  A case of 9p deletion syndrome with congenital infantile glaucoma, effective method of diagnosis, and treatment.

Authors:  Xu Jia; Xu-Yang Liu; Xuan-Chu Duan
Journal:  Int J Ophthalmol       Date:  2017-02-18       Impact factor: 1.779

3.  Copy number variations and primary open-angle glaucoma.

Authors:  Lea K Davis; Kacie J Meyer; Emily I Schindler; John S Beck; Danielle S Rudd; A Jason Grundstad; Todd E Scheetz; Terry A Braun; John H Fingert; Wallace L M Alward; Young H Kwon; James C Folk; Stephen R Russell; Thomas H Wassink; Val C Sheffield; Edwin M Stone
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-09-09       Impact factor: 4.799

4.  Copy number variation at chromosome 5q21.2 is associated with intraocular pressure.

Authors:  Abhishek Nag; Cristina Venturini; Pirro G Hysi; Matthew Arno; Estibaliz Aldecoa-Otalora Astarloa; Stuart Macgregor; Alex W Hewitt; Terri L Young; Paul Mitchell; Ananth C Viswanathan; David A Mackey; Christopher J Hammond
Journal:  Invest Ophthalmol Vis Sci       Date:  2013-05-01       Impact factor: 4.799

5.  A novel (paternally inherited) duplication 13q31.3q32.3 in a 12-year-old patient with facial dysmorphism and developmental delay.

Authors:  E Atack; H Fairtlough; K Smith; M Balasubramanian
Journal:  Mol Syndromol       Date:  2014-02-19
  5 in total

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