Literature DB >> 15286167

Clinical features of type 2 Stickler syndrome.

A V Poulson1, J M M Hooymans, A J Richards, P Bearcroft, R Murthy, D M Baguley, J D Scott, M P Snead.   

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Year:  2004        PMID： 15286167      PMCID： PMC1735871          DOI： 10.1136/jmg.2004.018382

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  14 in total

Review 1.  Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist.

Authors:  M P Snead; A M McNinch; A V Poulson; P Bearcroft; B Silverman; P Gomersall; V Parfect; A J Richards
Journal:  Eye (Lond)       Date:  2011-09-16       Impact factor: 3.775

2.  Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene.

Authors:  Tatiana Markova; Peter Sparber; Artem Borovikov; Tatiana Nagornova; Elena Dadali
Journal:  Mol Genet Genomic Med       Date:  2021-02-11       Impact factor: 2.183

3.  Stickler Syndrome (SS): Laser Prophylaxis for Retinal Detachment (Modified Ora Secunda Cerclage, OSC/SS).

Authors:  Robert E Morris; Edward Scott Parma; Nathaniel H Robin; Mathew R Sapp; Matthew H Oltmanns; Matthew R West; Donald C Fletcher; Ronald A Schuchard; Ferenc Kuhn
Journal:  Clin Ophthalmol       Date:  2021-01-06

4.  Auditory dysfunction in type 2 Stickler Syndrome.

Authors:  Philip Alexander; Philip Gomersall; Jack Stancel-Lewis; Gregory Scott Fincham; Arabella Poulson; Allan Richards; Annie McNinch; David M Baguley; Martin Snead
Journal:  Eur Arch Otorhinolaryngol       Date:  2020-09-08       Impact factor: 2.503

Review 5.  Hearing impairment in Stickler syndrome: a systematic review.

Authors:  Frederic R E Acke; Ingeborg J M Dhooge; Fransiska Malfait; Els M R De Leenheer
Journal:  Orphanet J Rare Dis       Date:  2012-10-30       Impact factor: 4.123

6.  Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.

Authors:  Khanh-Nhat Tran-Viet; Vincent Soler; Valencia Quiette; Caldwell Powell; Tammy Yanovitch; Ravikanth Metlapally; Xiaoyan Luo; Nicholas Katsanis; Erica Nading; Terri L Young
Journal:  Mol Vis       Date:  2013-04-05       Impact factor: 2.367

7.  Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall-Stickler syndrome spectrum.

Authors:  Long Guo; Nursel H Elcioglu; Zheng Wang; Yasemin K Demirkol; Pinar Isguven; Naomichi Matsumoto; Gen Nishimura; Noriko Miyake; Shiro Ikegawa
Journal:  Hum Genome Var       Date:  2017-10-05

8.  Phenotypic characterization of patients with early-onset high myopia due to mutations in COL2A1 or COL11A1: Why not Stickler syndrome?

Authors:  Lin Zhou; Xueshan Xiao; Shiqiang Li; Xiaoyun Jia; Panfeng Wang; Wenmin Sun; Fengsheng Zhang; Jiazhang Li; Tuo Li; Qingjiong Zhang
Journal:  Mol Vis       Date:  2018-08-10       Impact factor: 2.367

9.  Collagen XI regulates the acquisition of collagen fibril structure, organization and functional properties in tendon.

Authors:  Mei Sun; Eric Y Luo; Sheila M Adams; Thomas Adams; Yaping Ye; Snehal S Shetye; Louis J Soslowsky; David E Birk
Journal:  Matrix Biol       Date:  2020-09-17       Impact factor: 11.583

Review 10.  Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders.

Authors:  Daniel A Balikov; Adam Jacobson; Lev Prasov
Journal:  Genes (Basel)       Date:  2021-09-11       Impact factor: 4.096
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