Literature DB >> 9831343

Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity.

G de Crecchio1, F Simonelli, G Nunziata, S Mazzeo, G M Greco, E Rinaldi, V Ventruto, A Ciccodicola, M G Miano, F Testa, A Curci, M D'Urso, M M Rinaldi, M L Cavaliere, P Castelluccio.   

Abstract

Two unrelated families with familial exudative vitreoretinopathy (FEVR) show apparent autosomal recessive inheritance rather than the previously reported autosomal dominant or X-linked recessive mode of inheritance. Compared with the other modes of inheritance, the inherited clinical features here include earlier onset (at birth) and a more severe progressive course.

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Year:  1998        PMID： 9831343     DOI： 10.1034/j.1399-0004.1998.5440409.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  19 in total

Review 1.  Retinopathy of prematurity: recent advances in our understanding.

Authors:  C M Wheatley; J L Dickinson; D A Mackey; J E Craig; M M Sale
Journal:  Br J Ophthalmol       Date:  2002-06       Impact factor: 4.638

Review 2.  Wnt Signaling in vascular eye diseases.

Authors:  Zhongxiao Wang; Chi-Hsiu Liu; Shuo Huang; Jing Chen
Journal:  Prog Retin Eye Res       Date:  2018-12-01       Impact factor: 21.198

Review 3.  Retinopathy of prematurity: recent advances in our understanding.

Authors:  C M Wheatley; J L Dickinson; D A Mackey; J E Craig; M M Sale
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  2002-09       Impact factor: 5.747

4.  Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

Authors:  Xiaodong Jiao; Valerio Ventruto; Michael T Trese; Barkur S Shastry; J Fielding Hejtmancik
Journal:  Am J Hum Genet       Date:  2004-09-02       Impact factor: 11.025

5.  Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5.

Authors:  L M Downey; H M Bottomley; E Sheridan; M Ahmed; D F Gilmour; C F Inglehearn; A Reddy; A Agrawal; J Bradbury; C Toomes
Journal:  Br J Ophthalmol       Date:  2006-09       Impact factor: 4.638

6.  Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree.

Authors:  C Toomes; L M Downey; H M Bottomley; H A Mintz-Hittner; C F Inglehearn
Journal:  Br J Ophthalmol       Date:  2005-02       Impact factor: 4.638

7.  Genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree.

Authors:  M A Bamashmus; L M Downey; C F Inglehearn; S R Gupta; D C Mansfield
Journal:  Br J Ophthalmol       Date:  2000-04       Impact factor: 4.638

8.  Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.

Authors:  H Kondo; H Hayashi; K Oshima; T Tahira; K Hayashi
Journal:  Br J Ophthalmol       Date:  2003-10       Impact factor: 4.638

9.  Vitreomacular interface in patients with familial exudative vitreoretinopathy.

Authors:  Akito Shimouchi; Atsushi Takahashi; Taiji Nagaoka; Akihiro Ishibazawa; Akitoshi Yoshida
Journal:  Int Ophthalmol       Date:  2013-01-19       Impact factor: 2.031

10.  LRP5 sequence and polymorphisms in the baboon.

Authors:  Alison F Doubleday; Frederika A Kaestle; Laura A Cox; Shifra Birnbaum; Michael C Mahaney; Lorena M Havill
Journal:  J Med Primatol       Date:  2009-04       Impact factor: 0.667
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