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Journal Abstract Search

255 related items for PubMed ID: 7859284

  • 1.
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  • 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. PubMed ID: 10677296
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  • 4. Transgenic mouse models in studies of skeletal disorders.
    Jacenko O, Olsen BR.
    J Rheumatol Suppl; 1995 Feb; 43():39-41. PubMed ID: 7752133
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  • 5. Mutations in collagen genes resulting in metaphyseal and epiphyseal dysplasias.
    Olsen BR.
    Bone; 1995 Aug; 17(2 Suppl):45S-49S. PubMed ID: 8579897
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  • 6. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.
    Richards AJ, Yates JR, Williams R, Payne SJ, Pope FM, Scott JD, Snead MP.
    Hum Mol Genet; 1996 Sep; 5(9):1339-43. PubMed ID: 8872475
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  • 7. 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 01; 132A(1):33-5. PubMed ID: 15558753
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  • 8. COL9A3: A third locus for multiple epiphyseal dysplasia.
    Paassilta P, Lohiniva J, Annunen S, Bonaventure J, Le Merrer M, Pai L, Ala-Kokko L.
    Am J Hum Genet; 1999 Apr 01; 64(4):1036-44. PubMed ID: 10090888
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  • 9. Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.
    Tompson SW, Faqeih EA, Ala-Kokko L, Hecht JT, Miki R, Funari T, Funari VA, Nevarez L, Krakow D, Cohn DH.
    Am J Med Genet A; 2012 Feb 01; 158A(2):309-14. PubMed ID: 22246659
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  • 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 01; 79(3):449-57. PubMed ID: 16909383
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  • 11. A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.
    Brunner HG, van Beersum SE, Warman ML, Olsen BR, Ropers HH, Mariman EC.
    Hum Mol Genet; 1994 Sep 01; 3(9):1561-4. PubMed ID: 7833911
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  • 12. 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 01; 35(5):920-6. PubMed ID: 18381781
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  • 14. Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED).
    Li SW, Takanosu M, Arita M, Bao Y, Ren ZX, Maier A, Prockop DJ, Mayne R.
    Dev Dyn; 2001 Oct 01; 222(2):141-52. PubMed ID: 11668593
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  • 15. 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 01; 118(2):175-8. PubMed ID: 16189708
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  • 18. Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.
    Sirko-Osadsa DA, Murray MA, Scott JA, Lavery MA, Warman ML, Robin NH.
    J Pediatr; 1998 Feb 01; 132(2):368-71. PubMed ID: 9506662
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  • 20. Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.
    Spranger J, Menger H, Mundlos S, Winterpacht A, Zabel B.
    Pediatr Radiol; 1994 Feb 01; 24(6):431-5. PubMed ID: 7700721
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