-
1
-
-
0029742034
-
PCR assay confirms diagnosis in syndrome with variably expressed phenotype: Mutation detection in Stickler syndrome
-
Ahmad NN, McDonald-McGinn DM, Dixon P, Zackai EH, Tasman WS (1996) PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome. Journal of Medical Genetics 33:678-681
-
(1996)
Journal of Medical Genetics
, vol.33
, pp. 678-681
-
-
Ahmad, N.N.1
McDonald-McGinn, D.M.2
Dixon, P.3
Zackai, E.H.4
Tasman, W.S.5
-
2
-
-
12244257492
-
Prevalence of mitral valve prolapse in Stickler syndrome
-
Jan 30
-
Ahmad N, Richards AJ, Murfett HC, Shapiro L, Scott JD, Yates JR, Norton J, Snead MP (2003) Prevalence of mitral valve prolapse in Stickler syndrome. Am J Med Genet A 116(3):234-237, Jan 30
-
(2003)
Am J Med Genet A
, vol.116
, Issue.3
, pp. 234-237
-
-
Ahmad, N.1
Richards, A.J.2
Murfett, H.C.3
Shapiro, L.4
Scott, J.D.5
Yates, J.R.6
Norton, J.7
Snead, M.P.8
-
4
-
-
0015598645
-
Wagners hereditary vitreoretinal degeneration and retinal detachment
-
Hirose T, Lee KY, Schepens CL (1973) Wagners hereditary vitreoretinal degeneration and retinal detachment. Arch Ophthalmol 89:176-185
-
(1973)
Arch Ophthalmol
, vol.89
, pp. 176-185
-
-
Hirose, T.1
Lee, K.Y.2
Schepens, C.L.3
-
6
-
-
0041805505
-
The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1
-
Liberfarb RM, Levy HP, Roase PS, Wilkin DJ, Davis J, Balog JZ, Griffith AJ, Szymko-Bennet YM, Johnston JJ, Francomano CA (2003) The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1. Genetics in Medicine 5(1):21-27
-
(2003)
Genetics in Medicine
, vol.5
, Issue.1
, pp. 21-27
-
-
Liberfarb, R.M.1
Levy, H.P.2
Roase, P.S.3
Wilkin, D.J.4
Davis, J.5
Balog, J.Z.6
Griffith, A.J.7
Szymko-Bennet, Y.M.8
Johnston, J.J.9
Francomano, C.A.10
-
7
-
-
0036846623
-
Radial perivascular retinal degeneration: A key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations
-
Parma ES, Korkko J, Hagler WS, Ala-Kokko L (2002) Radial perivascular retinal degeneration: A key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations. Am J Ophthalmol 134:728-734
-
(2007)
Am J Ophthalmol
, vol.134
, pp. 728-734
-
-
Parma, E.S.1
Korkko, J.2
Hagler, W.S.3
Ala-Kokko, L.4
-
8
-
-
12644249393
-
-
CV Mosby, St Louis
-
Robertson JE, Meyer SM (1989) Retina, vol 1. CV Mosby, St Louis, pp 474-476
-
(1989)
Retina
, vol.1
, pp. 474-476
-
-
Robertson, J.E.1
Meyer, S.M.2
-
9
-
-
0036672550
-
Retinal detachment in Marfan syndrome; clinical characteristics and surgical outcome
-
Sharma T, Gopal L, Shanmugam MP, Bhende PS, Agarwal R, Shetty N, Gopalkrishna M, Rao MK, Balusamy S (2002) Retinal detachment in Marfan syndrome; clinical characteristics and surgical outcome. Retina 22:423-428
-
(2002)
Retina
, vol.22
, pp. 423-428
-
-
Sharma, T.1
Gopal, L.2
Shanmugam, M.P.3
Bhende, P.S.4
Agarwal, R.5
Shetty, N.6
Gopalkrishna, M.7
Rao, M.K.8
Balusamy, S.9
-
10
-
-
0030448475
-
Hereditary vitreoretinopathy
-
Snead MP (1996) Hereditary vitreoretinopathy. Eye 10:653-663
-
(1996)
Eye
, vol.10
, pp. 653-663
-
-
Snead, M.P.1
-
11
-
-
0035746629
-
Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): A survey
-
Stickler GB, Hughes W, Houchin P (2001) Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): A survey. Genetics in Medicine 3(3):192-196
-
(2001)
Genetics in Medicine
, vol.3
, Issue.3
, pp. 192-196
-
-
Stickler, G.B.1
Hughes, W.2
Houchin, P.3
-
12
-
-
0036860660
-
National audit of the outcome of primary surgery for rhegmatogenous retinal detachment. II Clinical outcomes
-
Thompson JA, Snead MP, Billington BM, Barrie T, Thompson JR, Sparrow JM (2002) National audit of the outcome of primary surgery for rhegmatogenous retinal detachment. II Clinical outcomes. Eye 16:771-777
-
(2002)
Eye
, vol.16
, pp. 771-777
-
-
Thompson, J.A.1
Snead, M.P.2
Billington, B.M.3
Barrie, T.4
Thompson, J.R.5
Sparrow, J.M.6
-
13
-
-
33748667074
-
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 (2006) A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. Am J Hum Genet 79(3):449-457
-
(2006)
Am J Hum Genet
, vol.79
, Issue.3
, pp. 449-457
-
-
Van Camp, G.1
Snoeckx, R.L.2
Hilgert, N.3
van den Ende, J.4
Fukuoka, H.5
Wagatsuma, M.6
Suzuki, H.7
Smets, R.M.8
Vanhoenacker, F.9
Declau, F.10
Van de Heyning, P.11
Usami, S.12
-
14
-
-
0027196285
-
Molecular basis of heritable connective tissue disease
-
Vandenberg P (1993) Molecular basis of heritable connective tissue disease. Bioche Med Metabol Biol 49:1-12
-
(1993)
Bioche Med Metabol Biol
, vol.49
, pp. 1-12
-
-
Vandenberg, P.1
-
15
-
-
0036199225
-
The diagnosis and consequences of Stickler syndrome
-
Webb AC, Markus AF (2002) The diagnosis and consequences of Stickler syndrome. Br J Oral Maxillofac Surg 40:49-51
-
(2002)
Br J Oral Maxillofac Surg
, vol.40
, pp. 49-51
-
-
Webb, A.C.1
Markus, A.F.2
|