全部文献期刊学位论文会议报纸专利标准年鉴图书|学者科研项目
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作者:Snead M P , Yates J R
来源:[J].Journal of Medical Genetics(IF 5.703), 1999, Vol.36 (5), pp.353-9PubMed
摘要:Stickler syndrome is an autosomal dominant disorder with characteristic ophthalmological and orofacial features, deafness, and arthritis. Abnormalities of vitreous gel architecture are a pathognomonic feature, usually associated with high myopia which is congenital and non-progre...
作者:... Scott J D , Pope M , Snead M P
来源:[J].European Journal of Human Genetics(IF 4.319), 1999, Vol.7 (7), pp.807-14PubMed
摘要:Stickler syndrome (hereditary arthro-ophthalmopathy) is a dominantly inherited connective tissue disorder with ocular, oro-facial, auditory and skeletal manifestations. It is genetically and phenotypically heterogeneous with the majority of families having mutations in the gene e...
作者:... Tanner J , Snead M P , Bearcroft P W P
来源:[J].Clinical radiology, 2018PubMed
摘要:To review the radiological findings of the largest cohort to date of paediatric patients with Stickler syndrome, all with confirmed molecular genetic analysis and sub-typing.;;It is understood that the National Health Service (NHS) commissioned service at Addenbrookes Hospital, C...
作者:... Poulson A V , Richards A J , Snead M P
来源:[J].Eye (London, England), 2015, Vol.29 (4), pp.475-82PubMed
摘要:To study the variability of the ophthalmic phenotype in Kniest dysplasia. Kniest dysplasia is an inherited disorder associated with defects in type II collagen and characterised by short-trunked dwarfism, kyphoscoliosis, and enlarged joints with restricted mobility. Other feature...
作者:Snead M P , Snead D R J ...
来源:[J].Eye(IF 1.818), 2002, Vol.16 (4), pp.447-53PubMed
摘要:To investigate the histological, immunohistochemical and ultrastructural features of the posterior hyaloid membrane (PHM) in its naturally separated state in patients without previous surgery and slit-lamp documentation of antemortem posterior vitreous detachment (PVD).;;A prospe...
作者:Snead M P , McNinch A M ...
来源:[J].Eye, 2011PubMed
摘要:The entity described by Gunnar Stickler, which included hereditary arthro-ophthalmopathy associated with retinal detachment, has recently been recognised to consist of a number of subgroups, which might now more correctly be referred to as the Stickler syndromes. They are the mos...
作者:Snead M P , Snead D R J ...
来源:[J].Eye, 2008, Vol.22 (10), pp.1257-62PubMed
摘要:Separation of the vitreous and posterior hyaloid membrane (PHM) or posterior vitreous detachment (PVD) typically occurs between the ages of 45 and 65 years in the general population, but may occur earlier in myopic or otherwise predisposed individuals. Age-related synergetic...

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