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Items: 1 to 20 of 103

1.

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.

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.

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.

4.

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
5.

Marshall syndrome and a defect at the COL11A1 locus.

Shanske A, Bogdanow A, Shprintzen RJ, Marion RW.

Am J Hum Genet. 1998 Nov;63(5):1558-61. No abstract available.

6.

[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.

7.

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.

Richards AJ, Yates JR, Williams R, Payne SJ, Pope FM, Scott JD, Snead MP.

Hum Mol Genet. 1996 Sep;5(9):1339-43.

PMID:
8872475
8.

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.

9.

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.

10.

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
11.

A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.

Hufnagel SB, Weaver KN, Hufnagel RB, Bader PI, Schorry EK, Hopkin RJ.

Am J Med Genet A. 2014 Oct;164A(10):2607-12. doi: 10.1002/ajmg.a.36688. Epub 2014 Aug 4.

PMID:
25091507
12.

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.

Vikkula M, Mariman EC, Lui VC, Zhidkova NI, Tiller GE, Goldring MB, van Beersum SE, de Waal Malefijt MC, van den Hoogen FH, Ropers HH, et al.

Cell. 1995 Feb 10;80(3):431-7.

13.

Craniofacial cartilage morphogenesis requires zebrafish col11a1 activity.

Baas D, Malbouyres M, Haftek-Terreau Z, Le Guellec D, Ruggiero F.

Matrix Biol. 2009 Oct;28(8):490-502. doi: 10.1016/j.matbio.2009.07.004. Epub 2009 Jul 26.

PMID:
19638309
14.

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
15.

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.

16.

Correlation of linkage data with phenotype in eight families with Stickler syndrome.

Wilkin DJ, Mortier GR, Johnson CL, Jones MC, de Paepe A, Shohat M, Wildin RS, Falk RE, Cohn DH.

Am J Med Genet. 1998 Nov 2;80(2):121-7.

PMID:
9805127
17.

Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.

Weis MA, Wilkin DJ, Kim HJ, Wilcox WR, Lachman RS, Rimoin DL, Cohn DH, Eyre DR.

J Biol Chem. 1998 Feb 20;273(8):4761-8.

18.
19.

A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.

Brunner HG, van Beersum SE, Warman ML, Olsen BR, Ropers HH, Mariman EC.

Hum Mol Genet. 1994 Sep;3(9):1561-4.

PMID:
7833911
20.

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

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