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Similar articles for PubMed (Select 23918474)

1.

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
2.

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
3.

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
4.

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

PMID:
22574936
5.

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
6.

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist.

Snead MP, McNinch AM, Poulson AV, Bearcroft P, Silverman B, Gomersall P, Parfect V, Richards AJ.

Eye (Lond). 2011 Nov;25(11):1389-400. doi: 10.1038/eye.2011.201. Epub 2011 Sep 16. Review.

7.

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.

8.

Hearing impairment in Stickler syndrome.

Admiraal RJ, Szymko YM, Griffith AJ, Brunner HG, Huygen PL.

Adv Otorhinolaryngol. 2002;61:216-23. Review. No abstract available.

PMID:
12408087
9.

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.

10.

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.

11.

Applying and testing the conveniently optimized enzyme mismatch cleavage method to clinical DNA diagnosis.

Niida Y, Kuroda M, Mitani Y, Okumura A, Yokoi A.

Mol Genet Metab. 2012 Nov;107(3):580-5. doi: 10.1016/j.ymgme.2012.09.008. Epub 2012 Sep 10.

PMID:
23022073
12.

Radiographic and tomographic analysis in patients with stickler syndrome type I.

Al Kaissi A, Chehida FB, Ganger R, Kenis V, Zandieh S, Hofstaetter JG, Klaushofer K, Grill F.

Int J Med Sci. 2013 Aug 3;10(9):1250-8. doi: 10.7150/ijms.4997. Print 2013.

13.

Identification of the COL2A1 mutation in patients with type I Stickler syndrome using RNA from freshly isolated peripheral white blood cells.

Yaguchi H, Ikeda T, Osada H, Yoshitake Y, Sasaki H, Yonekura H.

Genet Test Mol Biomarkers. 2011 Apr;15(4):231-7. doi: 10.1089/gtmb.2010.0138. Epub 2010 Dec 27.

PMID:
21186996
14.

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
15.

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
16.
17.

Hearing impairment in Stickler syndrome: a systematic review.

Acke FR, Dhooge IJ, Malfait F, De Leenheer EM.

Orphanet J Rare Dis. 2012 Oct 30;7:84. doi: 10.1186/1750-1172-7-84. Review.

18.

Stickler syndrome: clinical care and molecular genetics.

Parke DW.

Am J Ophthalmol. 2002 Nov;134(5):746-8. No abstract available.

PMID:
12429253
19.

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
20.

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
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