-
1
-
-
0032922721
-
Clinical and molecular genetics of Stickler syndrome
-
Snead M. Clinical and molecular genetics of Stickler syndrome. J Med Genet 1999;36:353-9.
-
(1999)
J Med Genet
, vol.36
, pp. 353-359
-
-
Snead, M.1
-
2
-
-
0035746629
-
Clinical features of hereditary progressive arthroophthalmopathy (Stickler syndrome)
-
Stickler G. Clinical features of hereditary progressive arthroophthalmopathy (Stickler syndrome): A survey. Genet Med 2001;3:192-6.
-
(2001)
A Survey. Genet Med
, vol.3
, pp. 192-196
-
-
Stickler, G.1
-
3
-
-
0001713439
-
Hereditary progressive arthro-ophthalmopathy
-
Stickler G, Belau P, Farrell F, Jones J, Pugh D, Steinberg A, et al. Hereditary progressive arthro-ophthalmopathy. Mayo Clin Proc 1965;40:433-55.
-
(1965)
Mayo Clin Proc
, vol.40
, pp. 433-455
-
-
Stickler, G.1
Belau, P.2
Farrell, F.3
Jones, J.4
Pugh, D.5
Steinberg, A.6
-
4
-
-
0032167683
-
Genetics and hearing loss: A review of Stickler syndrome
-
Nowak C. Genetics and hearing loss: a review of Stickler syndrome. J Commun Disord 1998;31:437-53.
-
(1998)
J Commun Disord
, vol.31
, pp. 437-453
-
-
Nowak, C.1
-
5
-
-
16544362845
-
Clinical features of type 2 Stickler syndrome
-
Poulson A, Hooymans J, Richards A, Bearcroft P, Murthy R, Baguley DM, et al. Clinical features of type 2 Stickler syndrome. J Med Genet 2004;41:e107.
-
(2004)
J Med Genet
, vol.41
-
-
Poulson, A.1
Hooymans, J.2
Richards, A.3
Bearcroft, P.4
Murthy, R.5
Baguley, D.M.6
-
6
-
-
0033365199
-
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes
-
Annunen S. 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;65:974-83.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 974-983
-
-
Annunen, S.1
-
7
-
-
34249705260
-
Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms
-
Richards A, Laidlaw M, Meredith S, Shankar P, Poulson A, Scott J, et al. Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms. Hum Mutat 2007;28:639.
-
(2007)
Hum Mutat
, vol.28
, pp. 639
-
-
Richards, A.1
Laidlaw, M.2
Meredith, S.3
Shankar, P.4
Poulson, A.5
Scott, J.6
-
8
-
-
0036199225
-
The diagnosis and consequences of Stickler syndrome
-
Webb A, Markus A. The diagnosis and consequences of Stickler syndrome. Br J Oral Maxillofac Surg 2002;40:49-51.
-
(2002)
Br J Oral Maxillofac Surg
, vol.40
, pp. 49-51
-
-
Webb, A.1
Markus, A.2
-
9
-
-
0016335052
-
Stickler's syndrome (hereditary progressive arthro-opthalmopathy)
-
Popkin J, Polomeno R. Stickler's syndrome (hereditary progressive arthro-opthalmopathy). Can Med Assoc J 1974;111:1071-6.
-
(1974)
Can Med Assoc J
, vol.111
, pp. 1071-1076
-
-
Popkin, J.1
Polomeno, R.2
-
10
-
-
0029783775
-
Stickler syndrome type 2 and linkage to the COL11A1 gene
-
Snead M. Stickler syndrome type 2 and linkage to the COL11A1 gene. Ann N Y Acad Sci 1996;785:332.
-
(1996)
Ann N Y Acad Sci
, vol.785
, pp. 332
-
-
Snead, M.1
-
11
-
-
0028589518
-
Stickler syndrome: Correlation between vitreoretinal phenotypes and linkage to COL 2A1
-
Snead M. 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.1
-
12
-
-
0032744969
-
Stickler syndrome: Further mutations in COL11A1 and evidence for additional locus heterogeneity
-
Snead M, Richards A. Stickler syndrome: Further mutations in COL11A1 and evidence for additional locus heterogeneity. Eur J Hum Genet 1999;7:807-14.
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 807-814
-
-
Snead, M.1
Richards, A.2
-
13
-
-
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 alpha1(XI) collagen
-
Richards A. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha1(XI) collagen. Hum Mol Genet 1996;5:1339-43.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1339-1343
-
-
Richards, A.1
-
14
-
-
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, Murray M, Scott J, Lavery M, Warman M, Robin N. 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.1
Murray, M.2
Scott, J.3
Lavery, M.4
Warman, M.5
Robin, N.6
-
16
-
-
63249091376
-
Focus on the physical assessment of the infant with Stickler syndrome
-
Lansford M. Focus on the physical assessment of the infant with Stickler syndrome. Adv Neonatal Care 2008;8:308-14.
-
(2008)
Adv Neonatal Care
, vol.8
, pp. 308-314
-
-
Lansford, M.1
-
17
-
-
0034014844
-
COL2A1 exon 2 mutations: Relevance to the Stickler and Wagner syndromes
-
Richards A. COL2A1 exon 2 mutations: Relevance to the Stickler and Wagner syndromes. Br J Ophthalmol 2000;84:364-71.
-
(2000)
Br J Ophthalmol
, vol.84
, pp. 364-371
-
-
Richards, A.1
-
18
-
-
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 E. 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 2002;134:728-34.
-
(2002)
Am J Ophthalmol
, vol.134
, pp. 728-734
-
-
Parma, E.1
-
19
-
-
0036846732
-
Stickler syndrome: Clinical care and molecular genetics
-
Parke II, D. Stickler syndrome: Clinical care and molecular genetics. Am J Ophthalmol 2002;134:746-8.
-
(2002)
Am J Ophthalmol
, vol.134
, pp. 746-748
-
-
Parke II, D.1
-
20
-
-
0036844803
-
Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family
-
Donoso L. Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family. Am J Ophthalmol 2002;134:720-7.
-
(2002)
Am J Ophthalmol
, vol.134
, pp. 720-727
-
-
Donoso, L.1
-
23
-
-
0027196285
-
Molecular basis of hereditable connective tissue disease
-
Vandenburg P. Molecular basis of hereditable connective tissue disease. Biochem Med Metab Biol 1993;49:1-12.
-
(1993)
Biochem Med Metab Biol
, vol.49
, pp. 1-12
-
-
Vandenburg, P.1
-
24
-
-
84921537515
-
Interventions for asymptomatic retinal breaks and lattice degeneration for preventing retinal detachment
-
[2005 update.]
-
Wilkinson C. Interventions for asymptomatic retinal breaks and lattice degeneration for preventing retinal detachment. Cochrane Database Syst Rev 2001;(3):CD003170. [2005 update.]
-
(2001)
Cochrane Database Syst Rev
, Issue.3
-
-
Wilkinson, C.1
-
25
-
-
0016604550
-
Inherited hyaloideo-retinopathy and skeletal-dysplasia
-
Knobloch W. Inherited hyaloideo-retinopathy and skeletal-dysplasia. Trans Am Ophthalmol Soc 1976;73:417-51.
-
(1976)
Trans Am Ophthalmol Soc
, vol.73
, pp. 417-451
-
-
Knobloch, W.1
-
26
-
-
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 R. The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1. Genet Med 2003;5:21-7.
-
(2003)
Genet Med
, vol.5
, pp. 21-27
-
-
Liberfarb, R.1
-
27
-
-
34848869378
-
Outcomes of surgery for retinal detachment in patients with Stickler syndrome: A comparison of two sequential 20-year cohorts
-
Abeysiri P. Outcomes of surgery for retinal detachment in patients with Stickler syndrome: A comparison of two sequential 20-year cohorts. Graefes Arch Clin Exp Ophthalmol 2007;245:1633-8.
-
(2007)
Graefes Arch Clin Exp Ophthalmol
, vol.245
, pp. 1633-1638
-
-
Abeysiri, P.1
-
28
-
-
70349087013
-
Interventions for prevention of giant retinal tear in the fellow eye
-
Ang GS, Townend J, Lois N. Interventions for prevention of giant retinal tear in the fellow eye. Cochrane Database Syst Rev 2009;(2):CD006909.
-
(2009)
Cochrane Database Syst Rev
, Issue.2
-
-
Ang, G.S.1
Townend, J.2
Lois, N.3
-
29
-
-
69149107165
-
Preferred reporting items for systematic reviews and meta-analyses: The PRISMA statement
-
PRISMA Group
-
Moher D, Liberati A, Tetzlaff J, Altman D, PRISMA Group. Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. Ann Intern Med 2009;151:1-16.
-
(2009)
Ann Intern Med
, vol.151
, pp. 1-16
-
-
Moher, D.1
Liberati, A.2
Tetzlaff, J.3
Altman, D.4
-
30
-
-
33745686061
-
High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: Vitreoretinal assessment coupled with exon sequencing for screening COL2A1
-
Richards A. High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1. Hum Mutat 2006;27:696-704.
-
(2006)
Hum Mutat
, vol.27
, pp. 696-704
-
-
Richards, A.1
-
31
-
-
0029049088
-
Genetic linkage of wagner disease and erosive vitreoretinopathy to chromosome 5q13-14
-
Brown D, Graemiger R, Hergersberg M, Schinzel A, Messmer E, Niemeyer G, 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.1
Graemiger, R.2
Hergersberg, M.3
Schinzel, A.4
Messmer, E.5
Niemeyer, G.6
-
33
-
-
37349038958
-
Retinal detachment and prophylaxis in type 1 Stickler syndrome
-
Ang A, Poulson A, Goodburn S, Richards A, Scott J, Snead M. Retinal detachment and prophylaxis in type 1 Stickler syndrome. Ophthalmology 2008;115:164-8.
-
(2008)
Ophthalmology
, vol.115
, pp. 164-168
-
-
Ang, A.1
Poulson, A.2
Goodburn, S.3
Richards, A.4
Scott, J.5
Snead, M.6
-
34
-
-
0030446945
-
Prophylactic laser photocoagulation in Stickler syndrome
-
Leiba H, Oliver M, Pollack A. Prophylactic laser photocoagulation in Stickler syndrome. Eye 1996;10:701-8.
-
(1996)
Eye
, vol.10
, pp. 701-708
-
-
Leiba, H.1
Oliver, M.2
Pollack, A.3
-
36
-
-
0028362421
-
Prevention of retinal detachment in Wagner-Stickler disease. Comparative study of different methods Apropos of 22 Cases
-
Monin C, Van Effenterre G, Andre-Sereys P, Haut J. [Prevention of retinal detachment in Wagner-Stickler disease. Comparative study of different methods. Apropos of 22 cases.] J Fr Ophtalmol 1994;17:167-74.
-
(1994)
J Fr Ophtalmol
, vol.17
, pp. 167-174
-
-
Monin, C.1
van Effenterre, G.2
Andre-Sereys, P.3
Haut, J.4
-
37
-
-
0027153165
-
Prevention of non-traumatic retinal detachment by surgical encircling in a series of 20 cases
-
Monin C, Allagui M, Larricart P, Ameline B, Haut J. Prevention of non-traumatic retinal detachment by surgical encircling in a series of 20 cases. J Fr Ophtalmol 1993;16:247-53.
-
(1993)
J Fr Ophtalmol
, vol.16
, pp. 247-253
-
-
Monin, C.1
Allagui, M.2
Larricart, P.3
Ameline, B.4
Haut, J.5
-
39
-
-
79960815481
-
Limites du laser dans la prevention du decollement de retine de la Maladie de Wagner
-
Khayrallah M, Kamoun N, Malouch N, Nouira F, Garsallah R, Chachia N. Limites du laser dans la prevention du decollement de retine de la Maladie de Wagner. Bull Soc Tun Ophthalmol 1991;3:82-6.
-
(1991)
Bull Soc Tun Ophthalmol
, vol.3
, pp. 82-86
-
-
Khayrallah, M.1
Kamoun, N.2
Malouch, N.3
Nouira, F.4
Garsallah, R.5
Chachia, N.6
-
40
-
-
0023316013
-
Maladie de Wagner et decollement de retine. A propos de 10 cas
-
Limon S, Pattoret M. Maladie de Wagner et decollement de retine. A propos de 10 cas. Ophtalmologie 1987;1:223-5.
-
(1987)
Ophtalmologie
, vol.1
, pp. 223-225
-
-
Limon, S.1
Pattoret, M.2
-
41
-
-
0018211312
-
Personal experience of prophylactic treatment of retinal detachment by means of argon laser photocoagulation
-
Corcostegui G. Personal experience of prophylactic treatment of retinal detachment by means of argon laser photocoagulation. Arch Soc Esp Oftalmol 1978;38:795-803.
-
(1978)
Arch Soc Esp Oftalmol
, vol.38
, pp. 795-803
-
-
Corcostegui, G.1
-
42
-
-
0027033498
-
The argon laser in the prevention of retinal detachment
-
Juhas T, Klisenbauer D. [The argon laser in the prevention of retinal detachment.] Cesk Oftalmol 1992;48:402-5.
-
(1992)
Cesk Oftalmol
, vol.48
, pp. 402-405
-
-
Juhas, T.1
Klisenbauer, D.2
-
43
-
-
79960778089
-
Management of the fellow eye in patients with rhegmatogenous retinal detachment
-
Zeidan A, Bedda A, El Habrouk M, Rashad K, Galal A. Management of the fellow eye in patients with rhegmatogenous retinal detachment. J Med Res Inst 1995;16:76-83.
-
(1995)
J Med Res Inst
, vol.16
, pp. 76-83
-
-
Zeidan, A.1
Bedda, A.2
Habrouk, M.E.3
Rashad, K.4
Galal, A.5
-
44
-
-
0023471345
-
Analysis of prophylactic laser coagulation of retinal defects and degenerations performed in patients of the Free University of Amsterdam during the period from 1982 to July 1986
-
Boen-Tan T. Analysis of prophylactic laser coagulation of retinal defects and degenerations performed in patients of the Free University of Amsterdam during the period from 1982 to July 1986. Doc Ophthalmol 1987;67:83-8.
-
(1987)
Doc Ophthalmol
, vol.67
, pp. 83-88
-
-
Boen-Tan, T.1
-
45
-
-
64849107582
-
Resident-performed prophylactic retinopexy and the risk of retinal detachment
-
Levin M, Naseri A, Stewart J. Resident-performed prophylactic retinopexy and the risk of retinal detachment. Ophthalmic Surg Laser Imag 2009;40:120-6.
-
(2009)
Ophthalmic Surg Laser Imag
, vol.40
, pp. 120-126
-
-
Levin, M.1
Naseri, A.2
Stewart, J.3
-
46
-
-
0020862845
-
Laser photocoagulation and prophylactic treatment for retinal detachment of the lesion
-
Mody K, Saxena A. Laser photocoagulation and prophylactic treatment for retinal detachment of the lesion. Indian J Ophthalmol 1983;31(Suppl.):961-3.
-
(1983)
Indian J Ophthalmol
, vol.31
, Issue.SUPPL.
, pp. 961-963
-
-
Mody, K.1
Saxena, A.2
-
47
-
-
0015847656
-
Prophylaxis of retinal detachment
-
Chignell A, Shilling J. Prophylaxis of retinal detachment. Br J Ophthalmol 1973;57:291-8.
-
(1973)
Br J Ophthalmol
, vol.57
, pp. 291-298
-
-
Chignell, A.1
Shilling, J.2
-
48
-
-
0027998489
-
Circumferential argon laser photocoagulation for prevention of retinal detachment
-
Pollack A, Milstein A, Oliver M, Zalish M. Circumferential argon laser photocoagulation for prevention of retinal detachment. Eye 1994;8:419-22.
-
(1994)
Eye
, vol.8
, pp. 419-422
-
-
Pollack, A.1
Milstein, A.2
Oliver, M.3
Zalish, M.4
-
49
-
-
0019440886
-
Management of the fellow eyes of patients with rhegmatogenous retinal detachment
-
McPherson A, O'Malley R, Beltangady S. Management of the fellow eyes of patients with rhegmatogenous retinal detachment. Ophthalmology 1981;88:922-34.
-
(1981)
Ophthalmology
, vol.88
, pp. 922-934
-
-
McPherson, A.1
O'Malley, R.2
Beltangady, S.3
-
50
-
-
0018200883
-
Fellow eyes of giant retinal breaks
-
Freeman H. Fellow eyes of giant retinal breaks. Trans Am Ophthalmol Soc 1978;76:343-82.
-
(1978)
Trans Am Ophthalmol Soc
, vol.76
, pp. 343-382
-
-
Freeman, H.1
-
51
-
-
0016372436
-
Xenon photocoagulation vs. cryotherapy in the prevention of retinal detachment
-
Boniuk I, Okun E, Johnston GP, Arribas N. Xenon photocoagulation vs. cryotherapy in the prevention of retinal detachment. Mod Probl Ophthalmol 1974;12:81-92.
-
(1974)
Mod Probl Ophthalmol
, vol.12
, pp. 81-92
-
-
Boniuk, I.1
Okun, E.2
Johnston, G.P.3
Arribas, N.4
-
52
-
-
0037258518
-
Observational research methods. Research design II: Cohort, cross-sectional and case-control studies
-
Mann C. Observational research methods. Research design II: cohort, cross-sectional and case-control studies. Emerg Med J 2003;20:54-60.
-
(2003)
Emerg Med J
, vol.20
, pp. 54-60
-
-
Mann, C.1
-
53
-
-
77952716339
-
Stickler syndrome and the vitreous phenotype: Mutations in COL2A1 and COL11A1
-
Richards A, McNinch A, Martin H, Oakhill K, Rai H, Waller S. Stickler syndrome and the vitreous phenotype: Mutations in COL2A1 and COL11A1. Hum Mutat 2010;31:E1461-71.
-
(2010)
Hum Mutat
, vol.31
-
-
Richards, A.1
McNinch, A.2
Martin, H.3
Oakhill, K.4
Rai, H.5
Waller, S.6
-
54
-
-
0029850054
-
Long-term follow-up of ocular findings in children with Stickler's syndrome
-
Wilson M. Long-term follow-up of ocular findings in children with Stickler's syndrome. Am J Ophthalmol 1996;122:727-8.
-
(1996)
Am J Ophthalmol
, vol.122
, pp. 727-728
-
-
Wilson, M.1
-
56
-
-
1442299746
-
The fellow eye of patients with rhegmatogenous retinal detachment
-
Gonzales C, Gupta A, Schwartz S, Kreiger A. The fellow eye of patients with rhegmatogenous retinal detachment. Ophthalmology 2004;111:518-21.
-
(2004)
Ophthalmology
, vol.111
, pp. 518-521
-
-
Gonzales, C.1
Gupta, A.2
Schwartz, S.3
Kreiger, A.4
-
57
-
-
0032585909
-
Treatment of retinal tears and lattice degenerations in fellow eyes in high risk patients suffering retinal detachment: A prospective study
-
Mastropasqua L, Carpineto P, Ciancaglini M, Falconio G, Gallenga P. Treatment of retinal tears and lattice degenerations in fellow eyes in high risk patients suffering retinal detachment: A prospective study. Br J Ophthalmol 1999;83:1046-9.
-
(1999)
Br J Ophthalmol
, vol.83
, pp. 1046-1049
-
-
Mastropasqua, L.1
Carpineto, P.2
Ciancaglini, M.3
Falconio, G.4
Gallenga, P.5
-
58
-
-
20344399506
-
-
American Academy of Ophthalmology. Preferred Practice Patterns, San Francisco, CA: American Academy of Ophthalmology
-
American Academy of Ophthalmology. Preferred Practice Patterns: Management of posterior vitreous detachment, retinal breaks and lattice degeneration. San Francisco, CA: American Academy of Ophthalmology; 2003. pp. 1-20.
-
(2003)
Management of Posterior Vitreous Detachment, Retinal Breaks and Lattice Degeneration
, pp. 1-20
-
-
-
59
-
-
84863732058
-
Publication bias: Recognizing the problem, understanding its origins and scope, and preventing harm
-
In Rothstein H, Sutton A, Borenstein M, editors, New York, NY: Wiley
-
Dickersin K. Publication bias: recognizing the problem, understanding its origins and scope, and preventing harm. In Rothstein H, Sutton A, Borenstein M, editors. Publication bias in meta-analysis: prevention, assessment, and adjustments. New York, NY: Wiley; 2005. pp. 11-33.
-
(2005)
Publication Bias In Meta-analysis: Prevention, Assessment, and Adjustments
, pp. 11-33
-
-
Dickersin, K.1
-
60
-
-
0038748044
-
Prophylactic 360 degrees cryotherapy in fellow eyes of patients with spontaneous giant retinal tears
-
Wolfensberger T. Prophylactic 360 degrees cryotherapy in fellow eyes of patients with spontaneous giant retinal tears. Ophthalmology 2003;110:1175-7.
-
(2003)
Ophthalmology
, vol.110
, pp. 1175-1177
-
-
Wolfensberger, T.1
-
61
-
-
0024318648
-
Macular changes after retinal detachment surgery
-
Sabates N. Macular changes after retinal detachment surgery. Am J Ophthalmol 1989;108:22-9.
-
(1989)
Am J Ophthalmol
, vol.108
, pp. 22-29
-
-
Sabates, N.1
|