Literature DB >> 23026214

Molecular pathogenesis of fibrochondrogenesis: is it really simple COL11A1 deficiency?

Fatema Alzahrani, Muneera J Alshammari, Fowzan S Alkuraya.   

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Year:  2012        PMID： 23026214     DOI： 10.1016/j.gene.2012.09.069

Source DB:  PubMed          Journal:  Gene        ISSN： 0378-1119            Impact factor:   3.688


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  5 in total

Review 1.  Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.

Authors:  Andrea Hanson-Kahn; Bing Li; Daniel H Cohn; Deborah A Nickerson; Michael J Bamshad; Louanne Hudgins
Journal:  Am J Med Genet A       Date:  2018-11-18       Impact factor: 2.802

2.  Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.

Authors:  Aboulfazl Rad; Maryam Najafi; Fatemeh Suri; Soheila Abedini; Stephen Loum; Ehsan Ghayoor Karimiani; Narsis Daftarian; David Murphy; Mohammad Doosti; Afrooz Moghaddasi; Hamid Ahmadieh; Hamideh Sabbaghi; Mohsen Rajati; Narges Hashemi; Barbara Vona; Miriam Schmidts
Journal:  Orphanet J Rare Dis       Date:  2022-03-03       Impact factor: 4.123

Review 3.  Autosomal Recessive Stickler Syndrome.

Authors:  Thomas R W Nixon; Allan J Richards; Howard Martin; Philip Alexander; Martin P Snead
Journal:  Genes (Basel)       Date:  2022-06-24       Impact factor: 4.141

4.  A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.

Authors:  Sophia B Hufnagel; K Nicole Weaver; Robert B Hufnagel; Patricia I Bader; Elizabeth K Schorry; Robert J Hopkin
Journal:  Am J Med Genet A       Date:  2014-08-04       Impact factor: 2.578

5.  Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss.

Authors:  Allan J Richards; Gregory S Fincham; Annie McNinch; David Hill; Arabella V Poulson; Bruce Castle; Melissa M Lees; Anthony T Moore; John D Scott; Martin P Snead
Journal:  J Med Genet       Date:  2013-08-06       Impact factor: 6.318
  5 in total

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