-
1
-
-
0034056835
-
Hearing loss in the nonocular Stickler syndrome caused by a COL11A2 mutation
-
Admiraal R.J., Brunner H.G., Dijkstra T.L., Huygen P.L., Cremers C.W. Hearing loss in the nonocular Stickler syndrome caused by a COL11A2 mutation. Laryngoscope. 110:2000;457-461.
-
(2000)
Laryngoscope
, vol.110
, pp. 457-461
-
-
Admiraal, R.J.1
Brunner, H.G.2
Dijkstra, T.L.3
Huygen, P.L.4
Cremers, C.W.5
-
2
-
-
0033365199
-
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes
-
Annunen S., Korkko J., Czarny M., Warman M.L., Brunner H.G., Kaariainen H., Mulliken J.B., Tranebjaerg L., Brooks D.G., Cox G.F., Cruysberg J.R., Curtis M.A., Davenport S.L., Friedrich C.A., Kaitila I., Krawczynski M.R., Latos-Bielenska A., Mukai S., Olsen B.R., Shinno N., Somer M., Vikkula M., Zlotogora J., Prockop D.J., 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. 65:1999;974-983.
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 974-983
-
-
Annunen, S.1
Korkko, J.2
Czarny, M.3
Warman, M.L.4
Brunner, H.G.5
Kaariainen, H.6
Mulliken, J.B.7
Tranebjaerg, L.8
Brooks, D.G.9
Cox, G.F.10
Cruysberg, J.R.11
Curtis, M.A.12
Davenport, S.L.13
Friedrich, C.A.14
Kaitila, I.15
Krawczynski, M.R.16
Latos-Bielenska, A.17
Mukai, S.18
Olsen, B.R.19
Shinno, N.20
Somer, M.21
Vikkula, M.22
Zlotogora, J.23
Prockop, D.J.24
Ala-Kokko, L.25
more..
-
3
-
-
0034003134
-
Structural macromolecules and supramolecular organisation of the vitreous gel
-
Bishop P.N. Structural macromolecules and supramolecular organisation of the vitreous gel. Prog. Retin. Eye Res. 19:2000;323-344.
-
(2000)
Prog. Retin. Eye Res.
, vol.19
, pp. 323-344
-
-
Bishop, P.N.1
-
4
-
-
0026409038
-
Ultrastructural changes of cochlea in mice with hereditary chondrodysplasia (cho/cho)
-
Cho H., Yamada Y., Yoo T.J. Ultrastructural changes of cochlea in mice with hereditary chondrodysplasia (cho/cho). Ann. N.Y. Acad. Sci. 630:1991;259-261.
-
(1991)
Ann. N.Y. Acad. Sci.
, vol.630
, pp. 259-261
-
-
Cho, H.1
Yamada, Y.2
Yoo, T.J.3
-
5
-
-
0031949272
-
Marshall syndrome associated with a splicing defect at the COL11A1 locus
-
Griffith A.J., Sprunger L.K., Sirko-Osadsa D.A., Tiller G.E., Meisler M.H., Warman M.L. Marshall syndrome associated with a splicing defect at the COL11A1 locus. Am. J. Hum. Genet. 62:1998;816-823.
-
(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
-
9
-
-
0031469713
-
A major gene affecting age-related hearing loss in C57BL/6J mice
-
Johnson K.R., Erway L.C., Cook S.A., Willott J.F., Zheng Q.Y. A major gene affecting age-related hearing loss in C57BL/6J mice. Hear. Res. 114:1997;83-92.
-
(1997)
Hear. Res.
, vol.114
, pp. 83-92
-
-
Johnson, K.R.1
Erway, L.C.2
Cook, S.A.3
Willott, J.F.4
Zheng, Q.Y.5
-
10
-
-
0034537965
-
A major gene affecting age-related hearing loss is common to at least ten inbred strains of mice
-
Johnson K.R., Zheng Q.Y., Erway L.C. A major gene affecting age-related hearing loss is common to at least ten inbred strains of mice. Genomics. 70:2000;171-180.
-
(2000)
Genomics
, vol.70
, pp. 171-180
-
-
Johnson, K.R.1
Zheng, Q.Y.2
Erway, L.C.3
-
11
-
-
0028815297
-
A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis
-
Li Y., Lacerda D.A., Warman M.L., Beier D.R., Yoshioka H., Ninomiya Y., Oxford J.T., Morris N.P., Andrikopoulos K., Ramirez F., et al. A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis. Cell. 80:1995;423-430.
-
(1995)
Cell
, vol.80
, pp. 423-430
-
-
Li, Y.1
Lacerda, D.A.2
Warman, M.L.3
Beier, D.R.4
Yoshioka, H.5
Ninomiya, Y.6
Oxford, J.T.7
Morris, N.P.8
Andrikopoulos, K.9
Ramirez, F.10
-
13
-
-
0032755733
-
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)
-
McGuirt W.T., Prasad S.D., Griffith A.J., Kunst H.P., Green G.E., Shpargel K.B., Runge C., Huybrechts C., Mueller R.F., Lynch E., King M.C., Brunner H.G., Cremers C.W., Takanosu M., Li S.W., Arita M., Mayne R., Prockop D.J., Van Camp G., Smith R.J. Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nat. Genet. 23:1999;413-419.
-
(1999)
Nat. Genet.
, vol.23
, pp. 413-419
-
-
McGuirt, W.T.1
Prasad, S.D.2
Griffith, A.J.3
Kunst, H.P.4
Green, G.E.5
Shpargel, K.B.6
Runge, C.7
Huybrechts, C.8
Mueller, R.F.9
Lynch, E.10
King, M.C.11
Brunner, H.G.12
Cremers, C.W.13
Takanosu, M.14
Li, S.W.15
Arita, M.16
Mayne, R.17
Prockop, D.J.18
Van Camp, G.19
Smith, R.J.20
more..
-
14
-
-
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 A.J., Yates J.R., Williams R., Payne S.J., Pope F.M., Scott J.D., Snead M.P. 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. 5:1996;1339-1343.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1339-1343
-
-
Richards, A.J.1
Yates, J.R.2
Williams, R.3
Payne, S.J.4
Pope, F.M.5
Scott, J.D.6
Snead, M.P.7
-
15
-
-
0015020488
-
A new chondrodystrophic mutant in mice. Electron microscopy of normal and abnormal chondrogenesis
-
Seegmiller R., Fraser F.C., Sheldon H. A new chondrodystrophic mutant in mice. Electron microscopy of normal and abnormal chondrogenesis. J. Cell. Biol. 48:1971;580-593.
-
(1971)
J. Cell. Biol.
, vol.48
, pp. 580-593
-
-
Seegmiller, R.1
Fraser, F.C.2
Sheldon, H.3
-
16
-
-
0015289856
-
Studies on cartilage. VI. A genetically determined defect in tracheal cartilage
-
Seegmiller R., Ferguson C.C., Sheldon H. Studies on cartilage. VI. A genetically determined defect in tracheal cartilage. J. Ultrastruct. Res. 38:1972;288-301.
-
(1972)
J. Ultrastruct. Res.
, vol.38
, pp. 288-301
-
-
Seegmiller, R.1
Ferguson, C.C.2
Sheldon, H.3
-
17
-
-
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 D.A., Murray M.A., Scott J.A., Lavery M.A., Warman M.L., Robin N.H. Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen. J. Pediatr. 132:1998;368-371.
-
(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
-
18
-
-
0026515616
-
Type II and type IX collagen form heterotypic fibers in the tectorial membrane of the inner ear
-
Slepecky N.B., Cefaratti L.K., Yoo T.J. Type II and type IX collagen form heterotypic fibers in the tectorial membrane of the inner ear. Matrix. 12:1992;80-86.
-
(1992)
Matrix
, vol.12
, pp. 80-86
-
-
Slepecky, N.B.1
Cefaratti, L.K.2
Yoo, T.J.3
-
19
-
-
0001713439
-
Hereditary progressive arthro-ophthalmopathy
-
Stickler G.B., Belau P.G., Farrell F.J., Jones J.D., Pugh D.G., Steinberg A.G., Ward L.E. Hereditary progressive arthro-ophthalmopathy. Mayo Clin. Proc. 40:1965;433-455.
-
(1965)
Mayo Clin. Proc.
, vol.40
, pp. 433-455
-
-
Stickler, G.B.1
Belau, P.G.2
Farrell, F.J.3
Jones, J.D.4
Pugh, D.G.5
Steinberg, A.G.6
Ward, L.E.7
-
20
-
-
17944375705
-
Auditory dysfunction in Stickler syndrome
-
Szymko-Bennett Y.M., Mastroianni M.A., Shotland L.I., Davis J., Ondrey F.G., Balog J.Z., Rudy S.F., McCullagh L., Levy H.P., Liberfarb R.M., Francomano C.A., Griffith A.J. Auditory dysfunction in Stickler syndrome. Arch. Otolaryngol. Head Neck Surg. 127:2001;1061-1068.
-
(2001)
Arch. Otolaryngol. Head Neck Surg.
, vol.127
, pp. 1061-1068
-
-
Szymko-Bennett, Y.M.1
Mastroianni, M.A.2
Shotland, L.I.3
Davis, J.4
Ondrey, F.G.5
Balog, J.Z.6
Rudy, S.F.7
McCullagh, L.8
Levy, H.P.9
Liberfarb, R.M.10
Francomano, C.A.11
Griffith, A.J.12
-
21
-
-
0027346880
-
Collagen of accessory structures of organ of Corti
-
Thalmann I. Collagen of accessory structures of organ of Corti. Connect. Tissue Res. 29:1993;191-201.
-
(1993)
Connect. Tissue Res.
, vol.29
, pp. 191-201
-
-
Thalmann, I.1
-
22
-
-
0028815298
-
Autosomal dominant and recessive osteochondrodyplasias associated with the COL11A2 locus
-
Vikkula M., Mariman E.C., Lui V.C., Zhidkova N.I., Tiller G.E., Goldring M.B., van Beersum S.E., de Waal Malefijt M.C., van den Hoogen F.H., Ropers H.H., et al. Autosomal dominant and recessive osteochondrodyplasias associated with the COL11A2 locus. Cell. 80:1995;431-437.
-
(1995)
Cell
, vol.80
, pp. 431-437
-
-
Vikkula, M.1
Mariman, E.C.2
Lui, V.C.3
Zhidkova, N.I.4
Tiller, G.E.5
Goldring, M.B.6
Van Beersum, S.E.7
De Waal Malefijt, M.C.8
Van den Hoogen, F.H.9
Ropers, H.H.10
-
23
-
-
0001633148
-
Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses
-
Zheng Q.Y., Johnson K.R., Erway L.C. Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses. Hear. Res. 130:1999;94-107.
-
(1999)
Hear. Res.
, vol.130
, pp. 94-107
-
-
Zheng, Q.Y.1
Johnson, K.R.2
Erway, L.C.3
|