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Genetic linkage analysis of hereditary arthroophthalmopathy (Stickler syndrome) and the type II procollagen gene
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A stop codon in the gene for type II procollagen (COL2A1) causes one variant of arthroophthalmopathy (the Stickler syndrome) [abstract]
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A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene
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Vikkula M, Mariman ECM, Lui VCH, Zhidkova NI, Tiller GE, Goldring MB, van Beersum SEC, Waal Malefijt MC de, van den Hoogen FHJ, Ropers H-H, Mayne R, Cheah KSE, Olsen BR, Warman ML, Brunner HG. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell 1995;80:431-437.
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0029833063
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A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in α1(XI) collagen
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Richards AJ, Yates JRW, Williams R, Payne SJ, Pope FM, Scott JD, Snead MP. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in α1(XI) collagen. Hum Mol Genet 1996;5:1339-1343.
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Correlation of linkage data with phenotype in eight families with Stickler syndrome
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Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)
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Pihlajamaa T, Prockop DJ, Faber J, Winterpacht A, Zabel B, Giedion A, Wiesbauer P, Spranger J, Ala-Kokko L. Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome). Am J Med Genet 1998;80:115-120.
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Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/ Stickler phenotypes
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Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen H, Mulliken JB, Tranebjærg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SLH, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/ Stickler phenotypes. Am J Hum Genet 1999;65:974-983.
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Ala-Kokko, L.25
more..
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27
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Oto-spondylo-megaepiphyseal dysplasia (OSMED): Clinical description of three patients homozygous for a missense mutation in the COL11A2 gene
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van Steensel MAM, Buma P, Waal Malefijt MC de, van den Hoogen FHJ, Brunner HG. Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene. Am J Med Genet 1997;70:315-323.
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28
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The autosomal recessive disorder otospondylomegaepiphyseal dysplasia (OSMED) is associated with loss of function mutations in the COL11A2 gene
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in press
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Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny J, Ala-Kokko L. The autosomal recessive disorder otospondylomegaepiphyseal dysplasia (OSMED) is associated with loss of function mutations in the COL11A2 gene. Am J Hum Genet in press.
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Melkoniemi, M.1
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Mutations in COL11A2 cause, non-syndromic hearing loss (DFNA13)
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McGuirt WT, Prasad SD, Griffith AJ, Kunst HPM, Green GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King M-C, Brunner HG, Cremers CWRJ, Takanosu M, Li S-W, Arita M, Mayne R, Prockop DJ, Van Camp G, Smith RJH. Mutations in COL11A2 cause, non-syndromic hearing loss (DFNA13). Nat Genet 1999;23:413-419.
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Prockop, D.J.18
Van Camp, G.19
Smith, R.J.H.20
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