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Items: 1 to 20 of 192

1.

Stickler syndrome: an underdiagnosed disease. Report of a family.

De Keyzer TH, De Veuster I, Smets RM.

Bull Soc Belge Ophtalmol. 2011;(318):45-9.

PMID:
22003765
2.
3.

Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene.

Go SL, Maugeri A, Mulder JJ, van Driel MA, Cremers FP, Hoyng CB.

Invest Ophthalmol Vis Sci. 2003 Sep;44(9):4035-43.

PMID:
12939326
4.

Stickler syndrome type 1 accompanied by membranous vitreous anomaly in two Japanese sisters.

Suemori S, Sawada A, Shiraki I, Mochizuki K.

Semin Ophthalmol. 2014 Jan;29(1):45-7. doi: 10.3109/13506129.2013.839805. Epub 2013 Oct 28.

PMID:
24164106
5.

Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.

Nikopoulos K, Schrauwen I, Simon M, Collin RW, Veckeneer M, Keymolen K, Van Camp G, Cremers FP, van den Born LI.

Invest Ophthalmol Vis Sci. 2011 Jul 1;52(7):4774-9. doi: 10.1167/iovs.10-7128.

PMID:
21421862
6.

The Stickler syndrome: case reports and literature review.

Bowling EL, Brown MD, Trundle TV.

Optometry. 2000 Mar;71(3):177-82. Review.

PMID:
10970261
7.

Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol.

Fincham GS, Pasea L, Carroll C, McNinch AM, Poulson AV, Richards AJ, Scott JD, Snead MP.

Ophthalmology. 2014 Aug;121(8):1588-97. doi: 10.1016/j.ophtha.2014.02.022. Epub 2014 May 1.

8.

Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.

Edwards TL, Burt BO, Black GC, Perveen R, Kearns LS, Staffieri SE, Toomes C, Buttery RG, Mackey DA.

Clin Exp Ophthalmol. 2012 Jul;40(5):476-83. doi: 10.1111/j.1442-9071.2012.02804.x. Epub 2012 Jun 19.

PMID:
22574936
9.

Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family.

Donoso LA, Edwards AO, Frost AT, Ritter R, Ahmad NN, Vrabec T, Rogers J, Meyer D.

Am J Ophthalmol. 2002 Nov;134(5):720-7.

PMID:
12429249
10.

Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome.

Wang X, Jia X, Xiao X, Li S, Li J, Li Y, Wei Y, Liang X, Guo X.

Mol Vis. 2016 Jun 23;22:697-704. eCollection 2016.

11.

Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation.

Gerth-Kahlert C, Grisanti S, Berger E, Höhn R, Witt G, Jung U.

J AAPOS. 2011 Jun;15(3):311-3. doi: 10.1016/j.jaapos.2011.03.008.

PMID:
21777803
12.

A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.

Baker S, Booth C, Fillman C, Shapiro M, Blair MP, Hyland JC, Ala-Kokko L.

Am J Med Genet A. 2011 Jul;155A(7):1668-72. doi: 10.1002/ajmg.a.34071. Epub 2011 Jun 10.

PMID:
21671392
13.

COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome.

Dupont C, Baumann C, Le Du N, Schaefer E, Guimiot F, Boutaud L, Capri Y, Spaggiari E, Aboura A, Benzacken B, Tabet AC.

Am J Med Genet A. 2013 Oct;161A(10):2663-5. doi: 10.1002/ajmg.a.36081. Epub 2013 Aug 5. No abstract available.

PMID:
23918474
14.

Foveal Hypoplasia in Patients with Stickler Syndrome.

Matsushita I, Nagata T, Hayashi T, Kimoto K, Kubota T, Ohji M, Kusaka S, Kondo H.

Ophthalmology. 2017 Jun;124(6):896-902. doi: 10.1016/j.ophtha.2017.01.046. Epub 2017 Mar 7.

PMID:
28283280
15.

Importance of early diagnosis of Stickler syndrome in newborns.

Antunes RB, Alonso N, Paula RG.

J Plast Reconstr Aesthet Surg. 2012 Aug;65(8):1029-34. doi: 10.1016/j.bjps.2012.02.017. Epub 2012 Mar 15.

PMID:
22424767
16.

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR.

Eur J Hum Genet. 2010 Aug;18(8):872-80. doi: 10.1038/ejhg.2010.23. Epub 2010 Feb 24. Erratum in: Eur J Hum Genet. 2010 Aug;18(8):881.

17.

Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.

Tompson SW, Johnson C, Abbott D, Bakall B, Soler V, Yanovitch TL, Whisenhunt KN, Klemm T, Rozen S, Stone EM, Johnson M, Young TL.

Ophthalmic Genet. 2017 Jan-Feb;38(1):43-50. doi: 10.1080/13816810.2016.1275018. Epub 2017 Jan 17.

PMID:
28095098
18.
19.

Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.

Tran-Viet KN, Soler V, Quiette V, Powell C, Yanovitch T, Metlapally R, Luo X, Katsanis N, Nading E, Young TL.

Mol Vis. 2013 Apr 5;19:759-66. Print 2013.

20.

Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome.

Lisi V, Guala A, Lopez A, Vitali M, Spadoni E, Olivieri C, Danesino C, Mottes M.

Genet Couns. 2002;13(2):163-70.

PMID:
12150217

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