-
2
-
-
0000838088
-
Hereditary progressive arthroophthalmopathy. II. Additional observations on vertebral abnormalities, a hearing defect, and a report of a similar case
-
Stickler GB, Pugh DG. Hereditary progressive arthroophthalmopathy. II. Additional observations on vertebral abnormalities, a hearing defect, and a report of a similar case. Mayo Clinic Proc 1967;42:495-500.
-
(1967)
Mayo Clinic Proc
, vol.42
, pp. 495-500
-
-
Stickler, G.B.1
Pugh, D.G.2
-
3
-
-
0024499055
-
Stickler's syndrome
-
Temple IK. Stickler's syndrome. J Med Genet 1989;26:119-26.
-
(1989)
J Med Genet
, vol.26
, pp. 119-126
-
-
Temple, I.K.1
-
4
-
-
0024818171
-
Duke-Elder lecture. Prevention and perspective in retinal detachment
-
Scott JD, Duke-Elder lecture. Prevention and perspective in retinal detachment. Eye. 1989;3:491-515.
-
(1989)
Eye
, vol.3
, pp. 491-515
-
-
Scott, J.D.1
-
6
-
-
0018305858
-
Vitreoretinal degeneration as a sign of generalised connective tissue diseases
-
Maumenee IH. Vitreoretinal degeneration as a sign of generalised connective tissue diseases. Am J Ophthalmol 1979;88:432-49.
-
(1979)
Am J Ophthalmol
, vol.88
, pp. 432-449
-
-
Maumenee, I.H.1
-
7
-
-
0028589518
-
Stickler syndrome: Correlation between vitreoretinal phenotypes and linkage to COL 2A1
-
Snead MP, Payne SJ, Barton DE, et al. Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1. Eye 1994;8:609-14.
-
(1994)
Eye
, vol.8
, pp. 609-614
-
-
Snead, M.P.1
Payne, S.J.2
Barton, D.E.3
-
8
-
-
0030278147
-
Masked confirmation of linkage between type 1 congenital vitreous anomaly and COL 2A1 in Stickler syndrome
-
Snead MP, Yates JR, Pope FM, Temple IK, Scott JD. Masked confirmation of linkage between type 1 congenital vitreous anomaly and COL 2A1 in Stickler syndrome. Graefes Arch Clin Exp Ophthalmol 1996;234:720-1.
-
(1996)
Graefes Arch Clin Exp Ophthalmol
, vol.234
, pp. 720-721
-
-
Snead, M.P.1
Yates, J.R.2
Pope, F.M.3
Temple, I.K.4
Scott, J.D.5
-
9
-
-
0030448475
-
Hereditary vitreopathy
-
Snead MP. Hereditary vitreopathy. Eye 1996;10:653-63.
-
(1996)
Eye
, vol.10
, pp. 653-663
-
-
Snead, M.P.1
-
10
-
-
0019514872
-
Stickler's syndrome
-
Nielson CE. Stickler's syndrome. Acta Ophthalmol 1981;59:-286-95.
-
(1981)
Acta Ophthalmol
, vol.59
, pp. 286-295
-
-
Nielson, C.E.1
-
11
-
-
0026409038
-
Ultrastructural changes of cochlea in mice with hereditary chondrodysplasia (cho/cho)
-
Cho H, Yamada Y, Yoo TJ. Ultrastructural changes of cochlea in mice with hereditary chondrodysplasia (cho/cho). Ann N Y Acad Sci 1991;630:259-61.
-
(1991)
Ann N Y Acad Sci
, vol.630
, pp. 259-261
-
-
Cho, H.1
Yamada, Y.2
Yoo, T.J.3
-
14
-
-
0028606375
-
Hereditary arthro-ophthalmopathy (Stickler syndrome): A diagnosis to consider in familial premature osteoarthritis
-
Rai A, Wordsworth P, Coppock JS, Zaphiropoulos GC, Struthers GR. Hereditary arthro-ophthalmopathy (Stickler syndrome): a diagnosis to consider in familial premature osteoarthritis. Br J Rheumatol 1994;33:1175-80.
-
(1994)
Br J Rheumatol
, vol.33
, pp. 1175-1180
-
-
Rai, A.1
Wordsworth, P.2
Coppock, J.S.3
Zaphiropoulos, G.C.4
Struthers, G.R.5
-
15
-
-
0017505296
-
Hereditary arthro-ophthalmopathy (the Stickler syndrome). Report of a kindred with protrusio acetabuli
-
Beals RK. Hereditary arthro-ophthalmopathy (the Stickler syndrome). Report of a kindred with protrusio acetabuli. Clin Orthop 1977:125:32-5.
-
(1977)
Clin Orthop
, vol.125
, pp. 32-35
-
-
Beals, R.K.1
-
16
-
-
0022450605
-
Prevalence of mitral-valve prolapse in the Stickler syndrome
-
Liberfarb RM, Goldblatt A. Prevalence of mitral-valve prolapse in the Stickler syndrome. Am J Mad Genet 1986;24:387-92.
-
(1986)
Am J Mad Genet
, vol.24
, pp. 387-392
-
-
Liberfarb, R.M.1
Goldblatt, A.2
-
19
-
-
0028812491
-
Key role for a minor collagen
-
Francomano CA. Key role for a minor collagen. Nat Genet 1995;9:6-8.
-
(1995)
Nat Genet
, vol.9
, pp. 6-8
-
-
Francomano, C.A.1
-
20
-
-
0043167590
-
Molecular abnormalities of collagen and connective tissue
-
Maddison PJ, Isenberg DA, Woo P, Glass DN, editors. Oxford: Oxford University Press
-
Pope FM. Molecular abnormalities of collagen and connective tissue. In: Maddison PJ, Isenberg DA, Woo P, Glass DN, editors. Oxford textbook of rheumatology. Oxford: Oxford University Press, 1998:353-404.
-
(1998)
Oxford Textbook of Rheumatology
, pp. 353-404
-
-
Pope, F.M.1
-
21
-
-
0029006974
-
Collagens: Molecular biology, diseases and potentials for therapy
-
Prockop DJ, Kivirikko KI. Collagens: molecular biology, diseases and potentials for therapy. Annu Rev Biochem 1995;64:403-34.
-
(1995)
Annu Rev Biochem
, vol.64
, pp. 403-434
-
-
Prockop, D.J.1
Kivirikko, K.I.2
-
23
-
-
0031694525
-
Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene
-
Ballo R, Beighton PH, Ramesar RS, Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene. Am J Med Genet 1998;80:6-11.
-
(1998)
Am J Med Genet
, vol.80
, pp. 6-11
-
-
Ballo, R.1
Beighton, P.H.2
Ramesar, R.S.3
-
24
-
-
0029743140
-
Progress in human chondrodysplasias: Molecular genetics
-
Horton WA. Progress in human chondrodysplasias: molecular genetics. Ann N Y Acad Sci 1996;785:150-9.
-
(1996)
Ann N Y Acad Sci
, vol.785
, pp. 150-159
-
-
Horton, W.A.1
-
25
-
-
0029833063
-
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, et al. 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. Hum Mol Genet 1996;5:1339-43.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1339-1343
-
-
Richards, A.J.1
Yates, J.R.2
Williams, R.3
-
26
-
-
23544444208
-
Stickler syndrome types 1 and 2: Confirmation of genetic heterogeneity and evidence for another locus
-
Martin S, Richards AJ, Yates JRW, Pope FM, Scott JD, Snead MR Stickler syndrome types 1 and 2: confirmation of genetic heterogeneity and evidence for another locus. Presentation XXI Meeting Club Jules Gonin 1998:A34.
-
(1998)
Presentation XXI Meeting Club Jules Gonin
-
-
Martin, S.1
Richards, A.J.2
Yates, J.R.W.3
Pope, F.M.4
Scott, J.D.5
Snead, M.R.6
-
27
-
-
0027255721
-
Isolation and characterization of the chains of type V/type XI collagen present in bovine vitreous
-
Mayne R, Brewton RG, Mayne PM, Baker JR. Isolation and characterization of the chains of type V/type XI collagen present in bovine vitreous. J Biol Chem 1993;268:9381-6.
-
(1993)
J Biol Chem
, vol.268
, pp. 9381-9386
-
-
Mayne, R.1
Brewton, R.G.2
Mayne, P.M.3
Baker, J.R.4
-
28
-
-
0031763844
-
Correlation of linkage data with phenotype in eight families with Stickler syndrome
-
Wilkin DJ, Mortier GR, Johnson CL, et al. Correlation of linkage data with phenotype in eight families with Stickler syndrome. Am J Med Genet 1998;80:121-7.
-
(1998)
Am J Med Genet
, vol.80
, pp. 121-127
-
-
Wilkin, D.J.1
Mortier, G.R.2
Johnson, C.L.3
-
29
-
-
0000099261
-
Ein bisher unbekanntes Erbleiden des Auges (Degeneratio hyaloideo-retinalis hereditaria), beobachtet im Kanton Zurich
-
Wagner H. Ein bisher unbekanntes Erbleiden des Auges (Degeneratio hyaloideo-retinalis hereditaria), beobachtet im Kanton Zurich. Klin Monatsbl Augenheilkd 1938;100:840-57.
-
(1938)
Klin Monatsbl Augenheilkd
, vol.100
, pp. 840-857
-
-
Wagner, H.1
-
30
-
-
0019490373
-
The Wagner-Stickler syndrome: A study of 22 families
-
Liberfarb RM, Hirose T, Holmes LB. The Wagner-Stickler syndrome: a study of 22 families. J Pediatr 1981;99:394-9.
-
(1981)
J Pediatr
, vol.99
, pp. 394-399
-
-
Liberfarb, R.M.1
Hirose, T.2
Holmes, L.B.3
-
31
-
-
0029049088
-
Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14
-
Brown DM, Graemiger RA, Hergersberg M, et al. Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14. Arch Ophthalmol 1995;113:671-5.
-
(1995)
Arch Ophthalmol
, vol.113
, pp. 671-675
-
-
Brown, D.M.1
Graemiger, R.A.2
Hergersberg, M.3
-
32
-
-
0025137033
-
Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome
-
Fryer AE, Upadhyaya M, Littler M, et al. Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome. J Med Genet 1990;27:91-3.
-
(1990)
J Med Genet
, vol.27
, pp. 91-93
-
-
Fryer, A.E.1
Upadhyaya, M.2
Littler, M.3
-
33
-
-
0027365381
-
Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: Evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthroophthalmopathy)
-
Korkko J, Ritvaniemi P, Haataja L, et al. Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthroophthalmopathy). Am J Hum Genet 1993;53:55-61.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 55-61
-
-
Korkko, J.1
Ritvaniemi, P.2
Haataja, L.3
-
35
-
-
0000495534
-
Ectodermal dysplasia. Report of a kindred with ocular deformities and hearing defect
-
Marshall D. Ectodermal dysplasia. Report of a kindred with ocular deformities and hearing defect. Am J Ophthalmol 1958;45:143-56.
-
(1958)
Am J Ophthalmol
, vol.45
, pp. 143-156
-
-
Marshall, D.1
-
37
-
-
0016371045
-
The demise of the Marshall syndrome
-
Cohen MM Jr. The demise of the Marshall syndrome. J Pediatr 1974;85:878.
-
(1974)
J Pediatr
, vol.85
, pp. 878
-
-
Cohen Jr., M.M.1
-
38
-
-
0021367917
-
The Marshall and Stickler syndromes: Objective rejection of lumping
-
Ayme S, Preus M, The Marshall and Stickler syndromes: objective rejection of lumping. J Med Genet 1984;21:34-8.
-
(1984)
J Med Genet
, vol.21
, pp. 34-38
-
-
Ayme, S.1
Preus, M.2
-
39
-
-
0031949272
-
Marshall syndrome associated with a splicing defect at the COL11A1 locus
-
Griffith AJ, Sprunger LK, Sirko-Osadsa DA, Tiller GE, Meisler MH, Warman ML. Marshall syndrome associated with a splicing defect at the COL11A1 locus. Am J Hum Genet 1998;62:816-23.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 816-823
-
-
Griffith, A.J.1
Sprunger, L.K.2
Sirko-Osadsa, D.A.3
Tiller, G.E.4
Meisler, M.H.5
Warman, M.L.6
-
42
-
-
2442734199
-
Coincidental occurrence of Pierre Robin and foetal chondrodysplasia
-
Weissenbucher G, Zweymuller E. Coincidental occurrence of Pierre Robin and foetal chondrodysplasia. Monatsschr Kinderheilkd 1964;112:315-17.
-
(1964)
Monatsschr Kinderheilkd
, vol.112
, pp. 315-317
-
-
Weissenbucher, G.1
Zweymuller, E.2
-
44
-
-
0031733006
-
Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymuller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)
-
Pihlajamaa T, Prockop DJ, Faber J, et al. Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymuller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome). Am J Med Genet 1998;80:115-20.
-
(1998)
Am J Med Genet
, vol.80
, pp. 115-120
-
-
Pihlajamaa, T.1
Prockop, D.J.2
Faber, J.3
-
45
-
-
0028129183
-
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. A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. Hum Mol Genet 1994;3:1561-4.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1561-1564
-
-
Brunner, H.G.1
Van Beersum, S.E.2
Warman, M.L.3
Olsen, B.R.4
Ropers, H.H.5
Mariman, E.C.6
-
46
-
-
0028815298
-
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus
-
Vikkula M, Mariman EC, Lui VC, et al. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell 1995;80:431-7.
-
(1995)
Cell
, vol.80
, pp. 431-437
-
-
Vikkula, M.1
Mariman, E.C.2
Lui, V.C.3
-
47
-
-
0031890446
-
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. Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen. J Pediatr 1998;132:368-71.
-
(1998)
J Pediatr
, vol.132
, pp. 368-371
-
-
Sirko-Osadsa, D.A.1
Murray, M.A.2
Scott, J.A.3
Lavery, M.A.4
Warman, M.L.5
Robin, N.H.6
-
48
-
-
0030958929
-
Oto-spondylo-megaepiphyseal dysplasia (OSMED): Clinical description of three patients homoxygous for a missense mutation in the COL11A2 gene
-
van Steensel MA, Buma P, de Waal Malefijt MC, van den Hoogen FH, Brunner HG. Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homoxygous for a missense mutation in the COL11A2 gene. Am J Med Genet 1997;70:315-23.
-
(1997)
Am J Med Genet
, vol.70
, pp. 315-323
-
-
Van Steensel, M.A.1
Buma, P.2
De Waal Malefijt, M.C.3
Van den Hoogen, F.H.4
Brunner, H.G.5
-
49
-
-
0028157152
-
The type II collagenopathies: A spectrum of chondrodysplasias
-
Spranger J, Winterpacht A, Zabel B. The type II collagenopathies: a spectrum of chondrodysplasias. Eur J Pediatr 1994;153:56-65.
-
(1994)
Eur J Pediatr
, vol.153
, pp. 56-65
-
-
Spranger, J.1
Winterpacht, A.2
Zabel, B.3
-
50
-
-
0001156423
-
Zur abgrenzung der dysostosis enchondrallis von der chondrodystrophie
-
Kniest W. Zur abgrenzung der dysostosis enchondrallis von der chondrodystrophie. Z Kinderheilkd 1952;70:633-40.
-
(1952)
Z Kinderheilkd
, vol.70
, pp. 633-640
-
-
Kniest, W.1
-
51
-
-
0021859326
-
The ocular findings in Kniest dysplasia
-
Maumenee IH, Traboulsi EI. The ocular findings in Kniest dysplasia. Am J Ophthalmol 1985;100:155-60.
-
(1985)
Am J Ophthalmol
, vol.100
, pp. 155-160
-
-
Maumenee, I.H.1
Traboulsi, E.I.2
-
53
-
-
0028796139
-
Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy)
-
Brown DM, Vandenburgh K, Kimura AE, Weingeist TA, Sheffield VC, Stone EM. Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy). Hum Mol Genet 1995;4:141-2.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 141-142
-
-
Brown, D.M.1
Vandenburgh, K.2
Kimura, A.E.3
Weingeist, T.A.4
Sheffield, V.C.5
Stone, E.M.6
-
54
-
-
0027404775
-
A second mutation in the type II procollagen gene (COL2AI) causing Stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon
-
Ahmad NN, McDonald-McGinn DM, Zackai EH, et al. A second mutation in the type II procollagen gene (COL2AI) causing Stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon. Am J Hum Genet 1993;52:39-45.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 39-45
-
-
Ahmad, N.N.1
McDonald-McGinn, D.M.2
Zackai, E.H.3
-
55
-
-
0029665141
-
A-2→G transition at the 3′ acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred
-
Williams CJ, Ganguly A, Considine E, et al. A-2→G transition at the 3′ acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred. Am J Med Genet 1996;63:461-7.
-
(1996)
Am J Med Genet
, vol.63
, pp. 461-467
-
-
Williams, C.J.1
Ganguly, A.2
Considine, E.3
-
56
-
-
0026000341
-
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)
-
Ahmad NN, Ala-Kokko L, Knowlton RG, et al. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proc Natl Acad Sci USA 1991;88:6624-7.
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 6624-6627
-
-
Ahmad, N.N.1
Ala-Kokko, L.2
Knowlton, R.G.3
-
57
-
-
0026448649
-
Procollagen II gene mutation in Stickler syndrome
-
Brown DM, Nichols BE, Weingeist TA, Sheffield VC, Kimura AE, Stone EM. Procollagen II gene mutation in Stickler syndrome. Arch Ophthalmol 1992;110:1589-93.
-
(1992)
Arch Ophthalmol
, vol.110
, pp. 1589-1593
-
-
Brown, D.M.1
Nichols, B.E.2
Weingeist, T.A.3
Sheffield, V.C.4
Kimura, A.E.5
Stone, E.M.6
-
58
-
-
0027181410
-
A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: Analysis of the COL2A1 gene by denaturing gradient gel electrophoresis
-
Ritvaniemi P, Hyland J, Ignatius J, Kivirikko KI, Prockop DJ, Ala-Kokko L. A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis. Genomics 1993;17:218-21.
-
(1993)
Genomics
, vol.17
, pp. 218-221
-
-
Ritvaniemi, P.1
Hyland, J.2
Ignatius, J.3
Kivirikko, K.I.4
Prockop, D.J.5
Ala-Kokko, L.6
-
59
-
-
0028863623
-
Stickler syndrome. A mutation in the nonhelical 3′ end of type II procollagen gene
-
Ahmad NN, Dimascio J, Knowlton RG, Tasman WS. Stickler syndrome. A mutation in the nonhelical 3′ end of type II procollagen gene. Arch Ophthalmol 1995;113:1454-7.
-
(1995)
Arch Ophthalmol
, vol.113
, pp. 1454-1457
-
-
Ahmad, N.N.1
Dimascio, J.2
Knowlton, R.G.3
Tasman, W.S.4
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