Literature DB >> 11954783

Vitreous phenotype: genotype correlation in Stickler syndrome.

David McLeod, Graeme C M Black, Paul N Bishop.   

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Year:  2002        PMID： 11954783     DOI： 10.1007/s00417-001-0380-8

Source DB:  PubMed          Journal:  Graefes Arch Clin Exp Ophthalmol        ISSN： 0721-832X            Impact factor:   3.117


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  15 in total

Review 1.  Structural macromolecules and supramolecular organisation of the vitreous gel.

Authors:  P N Bishop
Journal:  Prog Retin Eye Res       Date:  2000-05       Impact factor: 21.198

2.  Stickler syndrome and vitreoretinal degeneration: correlation between locus mutation and vitreous phenotype. Apropos of a case.

Authors:  F Parentin; A Sangalli; M Mottes; P Perissutti
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2001-04       Impact factor: 3.117

3.  Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14.

Authors:  J C Zech; L Morlé; P Vincent; N Alloisio; M Bozon; C Gonnet; S Milazzo; J D Grange; C Trepsat; J Godet; H Plauchu
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1999-05       Impact factor: 3.117

Review 4.  Hereditary vitreopathy.

Authors:  M P Snead
Journal:  Eye (Lond)       Date:  1996       Impact factor: 3.775

Review 5.  Duke-Elder lecture. Prevention and perspective in retinal detachment.

Authors:  J D Scott
Journal:  Eye (Lond)       Date:  1989       Impact factor: 3.775

6.  A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.

Authors:  A J Richards; J R Yates; R Williams; S J Payne; F M Pope; J D Scott; M P Snead
Journal:  Hum Mol Genet       Date:  1996-09       Impact factor: 6.150

7.  Management of retinal detachment in the Wagner-Stickler syndrome.

Authors:  B M Billington; P K Leaver; D McLeod
Journal:  Trans Ophthalmol Soc U K       Date:  1985

8.  A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14.

Authors:  G C Black; R Perveen; W Wiszniewski; C L Dodd; D Donnai; D McLeod
Journal:  Ophthalmology       Date:  1999-11       Impact factor: 12.079

Review 9.  Clinical and Molecular genetics of Stickler syndrome.

Authors:  M P Snead; J R Yates
Journal:  J Med Genet       Date:  1999-05       Impact factor: 6.318

10.  Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1.

Authors:  M P Snead; S J Payne; D E Barton; J R Yates; L al-Imara; F M Pope; J D Scott
Journal:  Eye (Lond)       Date:  1994       Impact factor: 3.775
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  2 in total

1.  A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.

Authors:  Guy Van Camp; Rikkert L Snoeckx; Nele Hilgert; Jenneke van den Ende; Hisakumi Fukuoka; Michio Wagatsuma; Hiroaki Suzuki; R M Erica Smets; Filip Vanhoenacker; Frank Declau; Paul Van de Heyning; Shin-ichi Usami
Journal:  Am J Hum Genet       Date:  2006-06-26       Impact factor: 11.025

2.  Optical coherence tomography findings in patients with transfusion-dependent β-thalassemia.

Authors:  Sezaneh Haghpanah; Omid Reza Zekavat; Sanaz Safaei; Mohammad Ali Ashraf; Shirin Parand; Hossein Ashraf
Journal:  BMC Ophthalmol       Date:  2022-06-24       Impact factor: 2.086
  2 in total

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