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Items: 1 to 20 of 127

1.

Mosaicism in Stickler syndrome.

Stevenson DA, Vanzo R, Damjanovich K, Hanson H, Muntz H, Hoffman RO, Bayrak-Toydemir P.

Eur J Med Genet. 2012 Jun;55(6-7):418-22. doi: 10.1016/j.ejmg.2012.03.006. Epub 2012 Mar 30.

2.

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.

Am J Hum Genet. 2006 Sep;79(3):449-57. Epub 2006 Jun 26.

3.

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 AJ, Laidlaw M, Whittaker J, Treacy B, Rai H, Bearcroft P, Baguley DM, Poulson A, Ang A, Scott JD, Snead MP.

Hum Mutat. 2006 Jul;27(7):696-704. Erratum in: Hum Mutat. 2006 Nov;27(11):1156.

PMID:
16752401
4.

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.

5.

Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix.

Richards AJ, Baguley DM, Yates JR, Lane C, Nicol M, Harper PS, Scott JD, Snead MP.

Am J Hum Genet. 2000 Nov;67(5):1083-94. Epub 2000 Sep 25.

6.

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen H, Mulliken JB, Tranebjaerg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L.

Am J Hum Genet. 1999 Oct;65(4):974-83.

7.
8.

Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.

Richards AJ, McNinch A, Martin H, Oakhill K, Rai H, Waller S, Treacy B, Whittaker J, Meredith S, Poulson A, Snead MP.

Hum Mutat. 2010 Jun;31(6):E1461-71. doi: 10.1002/humu.21257.

PMID:
20513134
9.

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.

10.

Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome.

Van Der Hout AH, Verlind E, Beemer FA, Buys CH, Hofstra RM, Scheffer H.

Hum Mutat. 2002 Sep;20(3):236.

PMID:
12204008
11.

Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.

Olavarrieta L, Morales-Angulo C, del Castillo I, Moreno F, Moreno-Pelayo MA.

Clin Genet. 2008 Mar;73(3):262-7. doi: 10.1111/j.1399-0004.2007.00947.x. Epub 2007 Dec 29.

PMID:
18177466
12.

Stickler syndrome: clinical characteristics and diagnostic criteria.

Rose PS, Levy HP, Liberfarb RM, Davis J, Szymko-Bennett Y, Rubin BI, Tsilou E, Griffith AJ, Francomano CA.

Am J Med Genet A. 2005 Oct 15;138A(3):199-207.

PMID:
16152640
13.

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.

Acke FR, Malfait F, Vanakker OM, Steyaert W, De Leeneer K, Mortier G, Dhooge I, De Paepe A, De Leenheer EM, Coucke PJ.

Mol Genet Metab. 2014 Nov;113(3):230-5. doi: 10.1016/j.ymgme.2014.09.001. Epub 2014 Sep 8.

PMID:
25240749
14.

COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes.

Richards AJ, Martin S, Yates JR, Scott JD, Baguley DM, Pope FM, Snead MP.

Br J Ophthalmol. 2000 Apr;84(4):364-71.

15.

Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene.

Vu CD, Brown J Jr, Körkkö J, Ritter R 3rd, Edwards AO.

Ophthalmology. 2003 Jan;110(1):70-7.

PMID:
12511349
16.

Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis.

Zechi-Ceide RM, Jesus Oliveira NA, Guion-Almeida ML, Antunes LF, Richieri-Costa A, Passos-Bueno MR.

Eur J Med Genet. 2008 May-Jun;51(3):183-96. doi: 10.1016/j.ejmg.2007.12.008. Epub 2008 Jan 9.

PMID:
18276201
17.

Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss.

Richards AJ, Fincham GS, McNinch A, Hill D, Poulson AV, Castle B, Lees MM, Moore AT, Scott JD, Snead MP.

J Med Genet. 2013 Nov;50(11):765-71. doi: 10.1136/jmedgenet-2012-101499. Epub 2013 Aug 6.

18.

[Stickler syndrome].

Alvarez de Santos M, Coronado-Monroy A, Medinilla-Vázquez MG, González-Quiroga G, Ramírez-del Río JL, García-Cervantes ML.

Bol Med Hosp Infant Mex. 1986 Apr;43(4):250-5. Spanish. No abstract available.

PMID:
3707710
19.

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
20.

A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred.

Williams CJ, Ganguly A, Considine E, McCarron S, Prockop DJ, Walsh-Vockley C, Michels VV.

Am J Med Genet. 1996 Jun 14;63(3):461-7.

PMID:
8737653

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