Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 122

1.

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.

2.

Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.

Khalifa O, Imtiaz F, Ramzan K, Allam R, Hemidan AA, Faqeih E, Abuharb G, Balobaid A, Sakati N, Owain MA.

Am J Med Genet A. 2014 Oct;164A(10):2601-6. doi: 10.1002/ajmg.a.36681. Epub 2014 Jul 29.

PMID:
25073711
3.

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.

4.

[Marshall syndrome: Clinical, radiological and genetical features of a Tunisian family].

Sakka R, Kerkeni E, Chaabouni M, Chioukh FZ, Ben Amor S, M'rad R, Ben Yahia S, Chaabouni H, Monastiri K.

Tunis Med. 2015 Mar;93(3):170-4. French.

5.

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.

6.

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.

7.

Stickler syndrome and vitreoretinal degeneration: correlation between locus mutation and vitreous phenotype. Apropos of a case.

Parentin F, Sangalli A, Mottes M, Perissutti P.

Graefes Arch Clin Exp Ophthalmol. 2001 Apr;239(4):316-9.

PMID:
11450497
8.

Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect.

Winterpacht A, Hilbert M, Schwarze U, Mundlos S, Spranger J, Zabel BU.

Nat Genet. 1993 Apr;3(4):323-6.

PMID:
7981752
9.

Audiovestibular phenotype associated with a COL11A1 mutation in Marshall syndrome.

Griffith AJ, Gebarski SS, Shepard NT, Kileny PR.

Arch Otolaryngol Head Neck Surg. 2000 Jul;126(7):891-4.

PMID:
10889003
10.

Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.

Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L.

Am J Hum Genet. 2000 Feb;66(2):368-77.

11.

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
12.

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.

13.

Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA).

Vijzelaar R, Waller S, Errami A, Donaldson A, Lourenco T, Rodrigues M, McConnell V, Fincham G, Snead M, Richards A.

BMC Med Genet. 2013 Apr 26;14:48. doi: 10.1186/1471-2350-14-48.

14.
15.

Marshall syndrome associated with a splicing defect at the COL11A1 locus.

Griffith AJ, Sprunger LK, Sirko-Osadsa DA, Tiller GE, Meisler MH, Warman ML.

Am J Hum Genet. 1998 Apr;62(4):816-23.

16.

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.

17.

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.

18.

Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity.

Martin S, Richards AJ, Yates JR, Scott JD, Pope M, Snead MP.

Eur J Hum Genet. 1999 Oct-Nov;7(7):807-14.

19.

Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.

van Steensel MA, Buma P, de Waal Malefijt MC, van den Hoogen FH, Brunner HG.

Am J Med Genet. 1997 Jun 13;70(3):315-23.

PMID:
9188673
20.

Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall-Stickler syndrome spectrum.

Guo L, Elcioglu NH, Wang Z, Demirkol YK, Isguven P, Matsumoto N, Nishimura G, Miyake N, Ikegawa S.

Hum Genome Var. 2017 Oct 5;4:17040. doi: 10.1038/hgv.2017.40. eCollection 2017.

Supplemental Content

Support Center