-
1
-
-
0001713439
-
Hereditary progressive arthro-ophthalmopathy
-
Stickler, G.B., Belau, P.G., Farrel, F.J., Jones, J.D., Pugh, D.G., Steinberg, A.G., and Ward, C.E. (1965) Hereditary progressive arthro-ophthalmopathy. Mayo CUn. Proc.40, 433-455.
-
(1965)
Mayo Cun. Proc
, vol.40
, pp. 433-455
-
-
Stickler, G.B.1
Belau, P.G.2
Farrel, F.J.3
Jones, J.D.4
Pugh, D.G.5
Steinberg, A.G.6
Ward, C.E.7
-
2
-
-
0000838088
-
Hereditary progressive arthro-ophthalmopathy. 2. Additional observations on vertebral abnormalities, a hearing defect, and a report of a similar case
-
Stickler, G.B., and Pugh, D.G. (1967) Hereditary progressive arthro-ophthalmopathy. 2. Additional observations on vertebral abnormalities, a hearing defect, and a report of a similar case. Mayo din. Proc.42, 495-500.
-
(1967)
Mayo Din. Proc
, vol.42
, pp. 495-500
-
-
Stickler, G.B.1
Pugh, D.G.2
-
3
-
-
0024499055
-
Stickler’s syndrome
-
Temple, I.K. (1989) Stickler’s syndrome. J. Med. Genet.26, 119-126.
-
(1989)
J. Med. Genet
, vol.26
, pp. 119-126
-
-
Temple, I.K.1
-
4
-
-
0016706017
-
The Stickler syndrome (Hereditary arthro-ophthalmopathy)
-
Herrmann J., France, T.D., Spranger J.W., Opitz J.M., and Wiffler, C. (1975)The Stickler syndrome (Hereditary arthro-ophthalmopathy). Birth Defects: Or. Art. Ser.11(2), 76-103.
-
(1975)
Birth Defects: Or. Art. Ser
, vol.11
, Issue.2
, pp. 76-103
-
-
Herrmann, J.1
France, T.D.2
Spranger, J.W.3
Opitz, J.M.4
Wiffler, C.5
-
5
-
-
0026320364
-
Genetic and clinical heterogeneity of Stickler syndrome
-
Vintiner, G.M., Temple, I.K., Middleton-Price, H.R., Baraitser, M., and Malcolm, S. (1991) Genetic and clinical heterogeneity of Stickler syndrome. Am. J. Med Genet.41, 44-48.
-
(1991)
Am. J. Med Genet
, vol.41
, pp. 44-48
-
-
Vintiner, G.M.1
Temple, I.K.2
Middleton-Price, H.R.3
Baraitser, M.4
Malcolm, S.5
-
6
-
-
0026586488
-
Variability of Stickler syndrome
-
Zlotogora J., Sagi, M., Schuper, A., Leiba, H., and Merin, S. (1992) Variability of Stickler syndrome. Am. J. Med. Genet.42, 337-339.
-
(1992)
Am. J. Med. Genet
, vol.42
, pp. 337-339
-
-
Zlotogora, J.1
Sagi, M.2
Schuper, A.3
Leiba, H.4
Merin, S.5
-
7
-
-
0018305858
-
Vitreoretinal degeneration as a sign of generalized connective tissue diseases
-
Maumenee, I.H. (1979) Vitreoretinal degeneration as a sign of generalized connective tissue diseases. Am. J. Ophtalmol.88, 432-449.
-
(1979)
Am. J. Ophtalmol
, vol.88
, pp. 432-449
-
-
Maumenee, I.H.1
-
8
-
-
0023464293
-
The Stickler syndrome: Evidence for close linkage to the structural gene for type II collagen
-
Francomano, C.A., Ltberfarb, R.M., Hirose, T., Maumenee, I.H., Streeten, E.A., Meyers, J.J.A., and Pyeritz, R.E. (1987) The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen. Genomics1, 293-296.
-
(1987)
Genomics
, vol.1
, pp. 293-296
-
-
Francomano, C.A.1
Ltberfarb, R.M.2
Hirose, T.3
Maumenee, I.H.4
Streeten, E.A.5
Meyers, J.J.A.6
Pyeritz, R.E.7
-
9
-
-
0024445992
-
Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene
-
Knowlton, R.G., Weaver, E.J., Struyk, A.F., Knobloch, W.H., King, R.A., Norris, K., Shamban, A., Uitto J., Jimenez, S.A., and Prockop, D.J. (1989)Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene. Am. J. Hum. Genet.45, 681-688.
-
(1989)
Am. J. Hum. Genet
, vol.45
, pp. 681-688
-
-
Knowlton, R.G.1
Weaver, E.J.2
Struyk, A.F.3
Knobloch, W.H.4
King, R.A.5
Norris, K.6
Shamban, A.7
Uitto, J.8
Jimenez, S.A.9
Prockop, D.J.10
-
10
-
-
0026000341
-
Stop codon in the procoflagen II gene (COL2A1) in a family with the Stickler syndrome arthro-ophthalmopathy
-
Ahmad, N.N., Ala-Kokko, L., Knowlton, R.G., Jimenez, S.A., Weaver, E.J., Maguine J.I., Tasman, W., Prockop, D.J. (1991) Stop codon in the procoflagen II gene (COL2A1) in a family with the Stickler syndrome arthro-ophthalmopathy. Proc. Natl. Acad. Sci. USA88, 6624-6627.
-
(1991)
Proc. Natl. Acad. Sci. USA
, vol.88
, pp. 6624-6627
-
-
Ahmad, N.N.1
Ala-Kokko, L.2
Knowlton, R.G.3
Jimenez, S.A.4
Weaver, E.J.5
Maguine, J.I.6
Tasman, W.7
Prockop, D.J.8
-
11
-
-
0027365381
-
Mutation in type n procollagen that substitutes Aspartate for Glycine od-67 and that causes cataracts and retinal detachment: Evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)
-
Korkko, J., Ritvaniemi, P., Haataja, L., Kivirikko, K.I., Prockop, D.J., and Ala-Kokko, L. (1993) Mutation in type n procollagen that substitutes Aspartate for Glycine od-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy). Am. J. Hum. Genet.53, 55-61.
-
(1993)
Am. J. Hum. Genet
, vol.53
, pp. 55-61
-
-
Korkko, J.1
Ritvaniemi, P.2
Haataja, L.3
Kivirikko, K.I.4
Prockop, D.J.5
Ala-Kokko, L.6
-
12
-
-
0027471786
-
Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect
-
Winterpacht, A., Hilbert, M., Schwarze, U., Mundlos, S., Spranger J., and Zabel, B.U. (1993) Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect. Nature Genet.3, 323-326.
-
(1993)
Nature Genet
, vol.3
, pp. 323-326
-
-
Winterpacht, A.1
Hilbert, M.2
Schwarze, U.3
Mundlos, S.4
Spranger, J.5
Zabel, B.U.6
-
13
-
-
0026808854
-
Linkage study in a large pedigree with Stickler syndrome
-
Bonaventure, J., Philippe, C., Plessis, G., Vigneron, J., Lasselin, C., Maroteaux, P., and Gilgenkrantz, S. (1992) Linkage study in a large pedigree with Stickler syndrome. Hum. Genet.90, 164-168.
-
(1992)
Hum. Genet
, vol.90
, pp. 164-168
-
-
Bonaventure, J.1
Philippe, C.2
Plessis, G.3
Vigneron, J.4
Lasselin, C.5
Maroteaux, P.6
Gilgenkrantz, S.7
-
14
-
-
0022423476
-
A highly polymorphic region 3' to the human type II collagen gene
-
Stoker, N.G., Cheah, K.S.E., Griffin, J.R., Pope, F.M., and Solomon, E. (1985)A highly polymorphic region 3' to the human type II collagen gene. Nucleic Adds Res.13, 4613-4622.
-
(1985)
Nucleic Adds Res
, vol.13
, pp. 4613-4622
-
-
Stoker, N.G.1
Cheah, K.S.E.2
Griffin, J.R.3
Pope, F.M.4
Solomon, E.5
-
15
-
-
0027234925
-
Physical and linkage mapping of the human and murine genes for the al chain of type IX collagen (COL9A1)
-
Warman, M.L., Tiller, G.E., Polumbo, P.A., Seldin, M.F., Rochelled, M., Knoll, J.H.M., Cheng, S.D., and Olsen, B.R. (1993) Physical and linkage mapping of the human and murine genes for the al chain of type IX collagen (COL9A1). Genomics17, 694-698.
-
(1993)
Genomics
, vol.17
, pp. 694-698
-
-
Warman, M.L.1
Tiller, G.E.2
Polumbo, P.A.3
Seldin, M.F.4
Rochelled, M.5
Knoll, J.H.M.6
Cheng, S.D.7
Olsen, B.R.8
-
16
-
-
0024356083
-
The human a2XI collagen (COLUA2) chain
-
Kimura, T., Cheah, K.S.E., Chan, S.D.H., Lui, V.C.H., Mattei, M-G., van der Rest, M., Orto, K., Solomon, E., Ninomiya, Y., and Olsen, B.R. (1989)The human a2XI collagen (COLUA2) chain. J. Biol. diem.264, 13910-13916.
-
(1989)
J. Biol. Diem
, vol.264
, pp. 13910-13916
-
-
Kimura, T.1
Cheah, K.S.E.2
Chan, S.D.H.3
Lui, V.C.H.4
Mattei, M.-G.5
Van Der Rest, M.6
Orto, K.7
Solomon, E.8
Ninomiya, Y.9
Olsen, B.R.10
-
17
-
-
0024761085
-
The human a2(XI) collagen gene maps to the centromeric border of the major histocompatibility complex on chromosome 6
-
Hanson, I.M., Gorman, P., Lui, V.C., Cheah, K.S., Solomon, E., and Trowsdale, J. (1989). The human a2(XI) collagen gene maps to the centromeric border of the major histocompatibility complex on chromosome 6. Genomics5, 925-931.
-
(1989)
Genomics
, vol.5
, pp. 925-931
-
-
Hanson, I.M.1
Gorman, P.2
Lui, V.C.3
Cheah, K.S.4
Solomon, E.5
Trowsdale, J.6
-
18
-
-
0024513679
-
Cartilage collagens
-
Mayne, R. (1989) Cartilage collagens. Arthritis Rheum.32, 241-246.
-
(1989)
Arthritis Rheum
, vol.32
, pp. 241-246
-
-
Mayne, R.1
-
19
-
-
0024526477
-
Cartilage contains mixed fibrils of collagen types n, DC, and XI
-
Mendler, M., Eich-Bender, S.G., Vaughan, L., Winterhalter, K.H., and Bruckner, P. (1989) Cartilage contains mixed fibrils of collagen types n, DC, and XI. J. Cell Biol.108, 191-197.
-
(1989)
J. Cell Biol
, vol.108
, pp. 191-197
-
-
Mendler, M.1
Eich-Bender, S.G.2
Vaughan, L.3
Winterhalter, K.H.4
Bruckner, P.5
-
20
-
-
0026342205
-
The collagens of articular cartilage
-
Eyre, D.R. (1991) The collagens of articular cartilage. Semin. Arthritis Rheum. 21, 2-11.
-
(1991)
Semin. Arthritis Rheum
, vol.21
, pp. 2-11
-
-
Eyre, D.R.1
-
21
-
-
0025282503
-
Chromosomal localization of seven members of the murine TGF-/3 superfamily suggests close linkage to several morphogenetic mutant loci
-
Dickinson, M.E., Kobrin, M.S., Silan, C.M., Kingsley, D.M., Justice, M.J., Miller, D.A., Ceci J.D., Lock, L.F., Lee, A., Buchberg, A.M., Siracusa, L.D., Lyons, K.M., Derynck, R., Hogan, B.L.M., Copeland, N.G., and Jenkins, N. A. (1990) Chromosomal localization of seven members of the murine TGF-/3 superfamily suggests close linkage to several morphogenetic mutant loci. Genomics6, 505-520.
-
(1990)
Genomics
, vol.6
, pp. 505-520
-
-
Dickinson, M.E.1
Kobrin, M.S.2
Silan, C.M.3
Kingsley, D.M.4
Justice, M.J.5
Miller, D.A.6
Ceci, J.D.7
Lock, L.F.8
Lee, A.9
Buchberg, A.M.10
Siracusa, L.D.11
Lyons, K.M.12
Derynck, R.13
Hogan, B.L.M.14
Copeland, N.G.15
Jenkins, N.A.16
-
22
-
-
0026353685
-
Report of the comparative comrruttee for human, mouse and other rodents
-
Davisson, M.T., Lalley, P.A., Peters, J., Doolittle, D.P., Hillyard, A.L., and Searie, A.G. (1991) Report of the comparative comrruttee for human, mouse and other rodents. Cytogenet. Cell Genet.58, 1152-1189.
-
(1991)
Cytogenet. Cell Genet
, vol.58
, pp. 1152-1189
-
-
Davisson, M.T.1
Lalley, P.A.2
Peters, J.3
Doolittle, D.P.4
Hillyard, A.L.5
Searie, A.G.6
-
23
-
-
0027255721
-
Isolation and characterization of the chains of type V/Type XI collagen present in bovine vitreous
-
Mayne, R., Brewton, R.G., Mayne, P.M., and Baker, J.R. (1993) Isolation and characterization of the chains of type V/Type XI collagen present in bovine vitreous. J. Biol. Chem.268, 9381-9386.
-
(1993)
J. Biol. Chem
, vol.268
, pp. 9381-9386
-
-
Mayne, R.1
Brewton, R.G.2
Mayne, P.M.3
Baker, J.R.4
-
24
-
-
0027374553
-
Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-Cys mutation in the procollagen type n gene (COL2A1)
-
75-Cys mutation in the procollagen type n gene (COL2A1).Hum. Genet.92, 499-505.
-
(1993)
Hum. Genet
, vol.92
, pp. 499-505
-
-
Williams, C.J.1
Considine, E.L.2
Knowlton, R.G.3
Reginato, A.4
Neumann, G.5
Harrison, D.6
Buxton, P.7
Jimenez, S.8
Prockop, D.J.9
-
25
-
-
0015020488
-
A new chondrodystrophic mutant in mice: Electron microscopy of normal and abnormal cbondrogenesis
-
Seegmiller, R., Fraser, F.C., and Sheldon, H. (1971) A new chondrodystrophic mutant in mice: electron microscopy of normal and abnormal cbondrogenesis. J. Cell Biol48, 580-593.
-
(1971)
J. Cell Biol
, vol.48
, pp. 580-593
-
-
Seegmiller, R.1
Fraser, F.C.2
Sheldon, H.3
-
26
-
-
23544481172
-
An abnormality in al(XI) collagen causes autosomal recessive chondrodysplasia (cho) in mice
-
Li, Y., Lacerda, D.A., Warman, M.L., Beier, D.R., Oxford, J.T., Morris, N., Andrikopoulos, K., Ramirez, F., Taylor, B., Seegmiller, R., and Olsen, B.R.(1993) An abnormality in al(XI) collagen causes autosomal recessive chondrodysplasia (cho) in mice. Mol. Biol. Cell4 (suppl.), 7.
-
(1993)
Mol. Biol. Cell
, vol.4
, pp. 7
-
-
Li, Y.1
Lacerda, D.A.2
Warman, M.L.3
Beier, D.R.4
Oxford, J.T.5
Morris, N.6
Andrikopoulos, K.7
Ramirez, F.8
Taylor, B.9
Seegmiller, R.10
Olsen, B.R.11
-
27
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller, S.A., Dykes, D.D., and Polesky, H.F. (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res.16, 1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
28
-
-
0026337065
-
Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymophisms
-
Williamson, R., Bowcock, A., Kidd, K., Peareon, P., Schmidtke, J., Ceveiha, P., Chipperfield, M., Coper, D.N., Coutelle, C., Hewitt, J., Klinger, K., Langley, K., Beckmannd, J., Tolley, M., and Maidak, B. (1991) Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymophisms. Cytogenet. Cell Genet.58, 1190-1832.
-
(1991)
Cytogenet. Cell Genet
, vol.58
, pp. 1190-1832
-
-
Williamson, R.1
Bowcock, A.2
Kidd, K.3
Peareon, P.4
Schmidtke, J.5
Ceveiha, P.6
Chipperfield, M.7
Coper, D.N.8
Coutelle, C.9
Hewitt, J.10
Klinger, K.11
Langley, K.12
Beckmannd, J.13
Tolley, M.14
Maidak, B.15
-
29
-
-
0024539204
-
Molecular cloning of rat and human type IX collagen cDNA and localization of the al(XI) gene on the human chromosome 6
-
Kimura, T., Mattei, M.-G., Stevens J.W., Goldring, M.B., Ninomiya, Y., and Olsen, B.R. (1989) Molecular cloning of rat and human type IX collagen cDNA and localization of the al(XI) gene on the human chromosome 6. Eur. J. Biochem.179, 71-78.
-
(1989)
Eur. J. Biochem
, vol.179
, pp. 71-78
-
-
Kimura, T.1
Mattei, M.-G.2
Stevens, J.W.3
Goldring, M.B.4
Ninomiya, Y.5
Olsen, B.R.6
-
30
-
-
0024582686
-
Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction
-
Wcbcr, J.L., and May, P.E. (1989) Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am. J. Hum. Genet.44, 388-396.
-
(1989)
Am. J. Hum. Genet
, vol.44
, pp. 388-396
-
-
Wcbcr, J.L.1
May, P.E.2
-
31
-
-
0021344005
-
Easy calculation of Lod scores and genetic risks on small computers
-
Lathrop, C.M., and Laloueld, M. Easy calculation of Lod scores and genetic risks on small computers. Am. J. Hum. Genet.36, 460-465.
-
Am. J. Hum. Genet
, vol.36
, pp. 460-465
-
-
Lathrop, C.M.1
Laloueld, M.2
-
32
-
-
0028154746
-
Report of the second international workshop on human chromosome 6
-
Volz, A., Boyle, J.M., Cann, H.M., Cottingham, R.W., Oit, H.T., andZiegler, A. (1994) Report of the second international workshop on human chromosome 6. Genomics21, 464-472.
-
(1994)
Genomics
, vol.21
, pp. 464-472
-
-
Volz, A.1
Boyle, J.M.2
Cann, H.M.3
Cottingham, R.W.4
Oit, H.T.5
Ziegler, A.6
-
33
-
-
0026446099
-
A second-generation linkage map of the human genome
-
Weissenbach, J., Gyapay, G., Dib, C., Vignal, A., Morisetted, J., Millasseau, P., Vaysseix, G., and Lathrop, M. (1992) A second-generation linkage map of the human genome. Nature359, 794-801.
-
(1992)
Nature
, vol.359
, pp. 794-801
-
-
Weissenbach, J.1
Gyapay, G.2
Dib, C.3
Vignal, A.4
Morisetted, J.5
Millasseau, P.6
Vaysseix, G.7
Lathrop, M.8
|