PubMed (OMIM) for id: 163223

Year	Number of Results
1965	1
1979	1
1982	1
1983	3
1984	4
1985	9
1986	3
1987	4
1988	1
1989	3
1990	5
1991	6
1992	3
1993	9
1994	3
1995	8
1996	4
1997	2
1998	4
1999	1
2000	5
2001	1
2002	3
2003	3
2004	1
2005	4
2024	0

1

A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia.

Miyamoto Y, Nakashima E, Hiraoka H, Ohashi H, Ikegawa S. Miyamoto Y, et al. Hum Genet. 2005 Nov;118(2):175-8. doi: 10.1007/s00439-005-0058-0. Epub 2005 Nov 15. Hum Genet. 2005. PMID: 16189708

2

Type II collagen gene variants and inherited osteonecrosis of the femoral head.

Liu YF, Chen WM, Lin YF, Yang RC, Lin MW, Li LH, Chang YH, Jou YS, Lin PY, Su JS, Huang SF, Hsiao KJ, Fann CS, Hwang HW, Chen YT, Tsai SF. Liu YF, et al. N Engl J Med. 2005 Jun 2;352(22):2294-301. doi: 10.1056/NEJMoa042480. N Engl J Med. 2005. PMID: 15930420 Free article.

3

The phenotypic spectrum of COL2A1 mutations.

Nishimura G, Haga N, Kitoh H, Tanaka Y, Sonoda T, Kitamura M, Shirahama S, Itoh T, Nakashima E, Ohashi H, Ikegawa S. Nishimura G, et al. Hum Mutat. 2005 Jul;26(1):36-43. doi: 10.1002/humu.20179. Hum Mutat. 2005. PMID: 15895462

4

A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment.

Richards AJ, Meredith S, Poulson A, Bearcroft P, Crossland G, Baguley DM, Scott JD, Snead MP. Richards AJ, et al. Invest Ophthalmol Vis Sci. 2005 Feb;46(2):663-8. doi: 10.1167/iovs.04-1017. Invest Ophthalmol Vis Sci. 2005. PMID: 15671297

5

Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.

Nishimura G, Nakashima E, Mabuchi A, Shimamoto K, Shimamoto T, Shimao Y, Nagai T, Yamaguchi T, Kosaki R, Ohashi H, Makita Y, Ikegawa S. Nishimura G, et al. J Med Genet. 2004 Jan;41(1):75-9. doi: 10.1136/jmg.2003.013722. J Med Genet. 2004. PMID: 14729840 Free PMC article. No abstract available.

6

HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY.

STICKLER GB, BELAU PG, FARRELL FJ, JONES JD, PUGH DG, STEINBERG AG, WARD LE. STICKLER GB, et al. Mayo Clin Proc. 1965 Jun;40:433-55. Mayo Clin Proc. 1965. PMID: 14299791 No abstract available.

7

A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis.

Donahue LR, Chang B, Mohan S, Miyakoshi N, Wergedal JE, Baylink DJ, Hawes NL, Rosen CJ, Ward-Bailey P, Zheng QY, Bronson RT, Johnson KR, Davisson MT. Donahue LR, et al. J Bone Miner Res. 2003 Sep;18(9):1612-21. doi: 10.1359/jbmr.2003.18.9.1612. J Bone Miner Res. 2003. PMID: 12968670 Free PMC article.

8

Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene.

Go SL, Maugeri A, Mulder JJ, van Driel MA, Cremers FP, Hoyng CB. Go SL, et al. Invest Ophthalmol Vis Sci. 2003 Sep;44(9):4035-43. doi: 10.1167/iovs.02-0736. Invest Ophthalmol Vis Sci. 2003. PMID: 12939326 Free article.

9

The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.

Liberfarb RM, Levy HP, Rose PS, Wilkin DJ, Davis J, Balog JZ, Griffith AJ, Szymko-Bennett YM, Johnston JJ, Francomano CA, Tsilou E, Rubin BI. Liberfarb RM, et al. Genet Med. 2003 Jan-Feb;5(1):21-7. doi: 10.1097/00125817-200301000-00004. Genet Med. 2003. PMID: 12544472 Free article. Review.

10

Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule.

Richards AJ, Morgan J, Bearcroft PW, Pickering E, Owen MJ, Holmans P, Williams N, Tysoe C, Pope FM, Snead MP, Hughes H. Richards AJ, et al. J Med Genet. 2002 Sep;39(9):661-5. doi: 10.1136/jmg.39.9.661. J Med Genet. 2002. PMID: 12205109 Free PMC article.

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