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Items: 1 to 20 of 111

1.

Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene.

Avcin T, Makitie O, Susic M, Miller S, Thorne C, Tenenbaum J, Laxer RM, Cole WG.

J Rheumatol. 2008 May;35(5):920-6. Epub 2008 Mar 15.

PMID:
18381781
2.

Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.

Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L.

Am J Hum Genet. 2000 Feb;66(2):368-77.

3.

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

Miyamoto Y, Nakashima E, Hiraoka H, Ohashi H, Ikegawa S.

Hum Genet. 2005 Nov;118(2):175-8. Epub 2005 Nov 15.

PMID:
16189708
4.

A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient.

Kayserili H, Wollnik B, Güven G, Emiroğlu MU, Başerer N, Uyguner ZO.

Am J Med Genet A. 2011 Jan;155A(1):180-5. doi: 10.1002/ajmg.a.33780.

PMID:
21204229
5.

COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).

Harel T, Rabinowitz R, Hendler N, Galil A, Flusser H, Chemke J, Gradstein L, Lifshitz T, Ofir R, Elbedour K, Birk OS.

Am J Med Genet A. 2005 Jan 1;132A(1):33-5.

PMID:
15558753
6.

Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia.

Nakashima E, Kitoh H, Maeda K, Haga N, Kosaki R, Mabuchi A, Nishimura G, Ohashi H, Ikegawa S.

Am J Med Genet A. 2005 Jan 15;132A(2):181-4.

PMID:
15551337
7.

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.

Vikkula M, Mariman EC, Lui VC, Zhidkova NI, Tiller GE, Goldring MB, van Beersum SE, de Waal Malefijt MC, van den Hoogen FH, Ropers HH, et al.

Cell. 1995 Feb 10;80(3):431-7.

8.

Premature osteoarthritis as presenting sign of type II collagenopathy: a case report and literature review.

Husar-Memmer E, Ekici A, Al Kaissi A, Sticht H, Manger B, Schett G, Zwerina J.

Semin Arthritis Rheum. 2013 Feb;42(4):355-60. doi: 10.1016/j.semarthrit.2012.05.002. Epub 2012 Jun 19. Review.

PMID:
22717203
9.

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

Chakchouk I, Grati M, Bademci G, Bensaid M, Ma Q, Chakroun A, Foster J 2nd, Yan D, Duman D, Diaz-Horta O, Ghorbel A, Mittal R, Farooq A, Tekin M, Masmoudi S, Liu XZ.

Mol Genet Genomics. 2015 Aug;290(4):1327-34. doi: 10.1007/s00438-015-0995-9. Epub 2015 Jan 30.

10.

A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.

Van Camp G, Snoeckx RL, Hilgert N, van den Ende J, Fukuoka H, Wagatsuma M, Suzuki H, Smets RM, Vanhoenacker F, Declau F, Van de Heyning P, Usami S.

Am J Hum Genet. 2006 Sep;79(3):449-57. Epub 2006 Jun 26.

11.
12.

The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis.

Jakkula E, Melkoniemi M, Kiviranta I, Lohiniva J, Räinä SS, Perälä M, Warman ML, Ahonen K, Kröger H, Göring HH, Ala-Kokko L.

Osteoarthritis Cartilage. 2005 Jun;13(6):497-507.

13.

Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis.

Bleasel JF, Bisagni-Faure A, Holderbaum D, Vacher-Lavenu MC, Haqqi TM, Moskowitz RW, Menkes CJ.

J Rheumatol. 1995 Feb;22(2):255-61.

PMID:
7738948
14.

Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.

Temtamy SA, Männikkö M, Abdel-Salam GM, Hassan NA, Ala-Kokko L, Afifi HH.

Am J Med Genet A. 2006 Jun 1;140(11):1189-95.

PMID:
16637051
15.

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

Richards AJ, Fincham GS, McNinch A, Hill D, Poulson AV, Castle B, Lees MM, Moore AT, Scott JD, Snead MP.

J Med Genet. 2013 Nov;50(11):765-71. doi: 10.1136/jmedgenet-2012-101499. Epub 2013 Aug 6.

16.

Gene symbol: COL11A2. Disease: Otospondylomegaepiphyseal dysplasia.

Uyguner ZO, Kayserili H.

Hum Genet. 2008 Oct;124(3):310-1. No abstract available.

PMID:
18846651
17.

A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome.

Vuoristo MM, Pappas JG, Jansen V, Ala-Kokko L.

Am J Med Genet A. 2004 Oct 1;130A(2):160-4. Review.

PMID:
15372529
18.

Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1).

Williams CJ, Considine EL, Knowlton RG, Reginato A, Neumann G, Harrison D, Buxton P, Jimenez S, Prockop DJ.

Hum Genet. 1993 Nov;92(5):499-505.

PMID:
8244341
19.

Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2).

van Beelen E, Leijendeckers JM, Huygen PL, Admiraal RJ, Hoefsloot LH, Lichtenbelt KD, Stöbe L, Pennings RJ, Leuwer R, Snik AF, Kunst HP.

Hear Res. 2012 Sep;291(1-2):15-23. doi: 10.1016/j.heares.2012.07.001. Epub 2012 Jul 14.

PMID:
22796475
20.

Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients.

Iwasa Y, Moteki H, Hattori M, Sato R, Nishio SY, Takumi Y, Usami S.

Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:111S-7S. doi: 10.1177/0003489415575044. Epub 2015 Mar 16.

PMID:
25780254

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