Literature DB >> 2377350

Persistent hyperplastic primary vitreous with vertical transmission.

A E Lin1, A W Biglan, K L Garver.   

Abstract

The authors report a 15-month-old white male and his 30-year-old mother who both have persistent hyperplastic primary vitreous (PHPV) unassociated with other congenital anomalies. Although there are two previous reports of PHPV in siblings suggesting autosomal recessive inheritance, this is the first report compatible with autosomal dominant inheritance.

Entities:  

Mesh：

Year:  1990        PMID： 2377350     DOI： 10.3109/13816819009012956

Source DB:  PubMed          Journal:  Ophthalmic Paediatr Genet        ISSN： 0167-6784


  9 in total

1.  Persistent Fetal Vasculature and Severe Protein C Deficiency.

Authors:  A G L Douglas; H Rafferty; P Hodgkins; A Nagra; N C Foulds; M Morgan; I K Temple
Journal:  Mol Syndromol       Date:  2010-04-23

2.  Dominantly inherited unilateral retinal dysplasia.

Authors:  I C Lloyd; A Colley; A B Tullo; R Bonshek
Journal:  Br J Ophthalmol       Date:  1993-06       Impact factor: 4.638

3.  Persistent hyperplastic primary vitreous: diagnosis, treatment and results.

Authors:  Z F Pollard
Journal:  Trans Am Ophthalmol Soc       Date:  1997

4.  Tgfbeta signaling directly induces Arf promoter remodeling by a mechanism involving Smads 2/3 and p38 MAPK.

Authors:  Yanbin Zheng; Yi D Zhao; Melissa Gibbons; Tatiana Abramova; Patricia Y Chu; John D Ash; John M Cunningham; Stephen X Skapek
Journal:  J Biol Chem       Date:  2010-09-08       Impact factor: 5.157

5.  The Arf tumor suppressor gene promotes hyaloid vascular regression during mouse eye development.

Authors:  Robyn N McKeller; Jennifer L Fowler; Justine J Cunningham; Nikita Warner; Richard J Smeyne; Frederique Zindy; Stephen X Skapek
Journal:  Proc Natl Acad Sci U S A       Date:  2002-03-12       Impact factor: 11.205

6.  Pathogenesis of persistent hyperplastic primary vitreous in mice lacking the arf tumor suppressor gene.

Authors:  Amy C Martin; J Derek Thornton; Jiewiu Liu; XiaoFei Wang; Jian Zuo; Monica M Jablonski; Edward Chaum; Frederique Zindy; Stephen X Skapek
Journal:  Invest Ophthalmol Vis Sci       Date:  2004-10       Impact factor: 4.799

7.  Clinical characteristics and treatment of 22 eyes of morning glory syndrome associated with persistent hyperplastic primary vitreous.

Authors:  Ping Fei; Qi Zhang; Jing Li; Peiquan Zhao
Journal:  Br J Ophthalmol       Date:  2013-07-22       Impact factor: 4.638

8.  Varied manifestations of persistent hyperplastic primary vitreous with graded somatic mosaic deletion of a single gene.

Authors:  Michelle N Mary-Sinclair; Xiaofei Wang; Douglas J Swanson; Caroline Y Sung; Eneida A Mendonca; Kristen Wroblewski; Shannon H Baumer; Dan Goldowitz; Monica M Jablonski; Stephen X Skapek
Journal:  Mol Vis       Date:  2014-03-03       Impact factor: 2.367

9.  Arf induction by Tgfβ is influenced by Sp1 and C/ebpβ in opposing directions.

Authors:  Yanbin Zheng; Caitlin Devitt; Jing Liu; Nida Iqbal; Stephen X Skapek
Journal:  PLoS One       Date:  2013-08-05       Impact factor: 3.240
  9 in total

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