Literature DB >> 10819645

Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling.

J Faber, A Winterpacht, B Zabel, W Gnoinski, A Schinzel, B Steinmann, A Superti-Furga.   

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Year:  2000        PMID： 10819645      PMCID： PMC1734568          DOI： 10.1136/jmg.37.4.318

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


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  9 in total

1.  FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish.

Authors:  Michella Ghassibe-Sabbagh; Laurence Desmyter; Tobias Langenberg; Filip Claes; Odile Boute; Bénédicte Bayet; Philippe Pellerin; Karlien Hermans; Liesbeth Backx; Maria Adela Mansilla; Sandra Imoehl; Stefanie Nowak; Kerstin U Ludwig; Carlotta Baluardo; Melissa Ferrian; Peter A Mossey; Markus Noethen; Mieke Dewerchin; Geneviève François; Nicole Revencu; Romain Vanwijck; Jacqueline Hecht; Elisabeth Mangold; Jeffrey Murray; Michele Rubini; Joris R Vermeesch; Hélène A Poirel; Peter Carmeliet; Miikka Vikkula
Journal:  Am J Hum Genet       Date:  2011-02-03       Impact factor: 11.025

2.  Mosaicism in Stickler syndrome.

Authors:  David A Stevenson; Rena Vanzo; Kristy Damjanovich; Heather Hanson; Harlan Muntz; Robert O Hoffman; Pinar Bayrak-Toydemir
Journal:  Eur J Med Genet       Date:  2012-03-30       Impact factor: 2.708

3.  Osteochondritis dissecans and Osgood Schlatter disease in a family with Stickler syndrome.

Authors:  Ali Al Kaissi; Klaus Klaushofer; Franz Grill
Journal:  Pediatr Rheumatol Online J       Date:  2009-02-04       Impact factor: 3.054

4.  A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome.

Authors:  Tomohiro Kohmoto; Atsumi Tsuji; Kei-Ichi Morita; Takuya Naruto; Kiyoshi Masuda; Kenichi Kashimada; Keisuke Enomoto; Tomohiro Morio; Hiroyuki Harada; Issei Imoto
Journal:  Hum Genome Var       Date:  2016-04-07

Review 5.  From Structure to Phenotype: Impact of Collagen Alterations on Human Health.

Authors:  Lavinia Arseni; Anita Lombardi; Donata Orioli
Journal:  Int J Mol Sci       Date:  2018-05-08       Impact factor: 5.923

6.  Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report.

Authors:  N Riise; B R Lindberg; M A Kulseth; S O Fredwall; R Lundby; M-E Estensen; L Drolsum; E Merckoll; K Krohg-Sørensen; B Paus
Journal:  BMC Med Genet       Date:  2018-08-31       Impact factor: 2.103

Review 7.  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

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.  Targeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment.

Authors:  Xinhua Huang; Ying Lin; Chuan Chen; Yi Zhu; Hongbin Gao; Tao Li; Bingqian Liu; Cancan Lyu; Ying Huang; Qingxiu Wu; Haichun Li; Chenjin Jin; Xiaoling Liang; Lin Lu
Journal:  Int J Mol Med       Date:  2018-07-04       Impact factor: 4.101
  9 in total

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