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Results: 1 to 20 of 175

1.

The phenotypic spectrum of COL2A1 mutations.

Nishimura G, Haga N, Kitoh H, Tanaka Y, Sonoda T, Kitamura M, Shirahama S, Itoh T, Nakashima E, Ohashi H, Ikegawa S.

Hum Mutat. 2005 Jul;26(1):36-43.

PMID:
15895462
[PubMed - indexed for MEDLINE]
2.

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.

Hoornaert KP, Dewinter C, Vereecke I, Beemer FA, Courtens W, Fryer A, Fryssira H, Lees M, Müllner-Eidenböck A, Rimoin DL, Siderius L, Superti-Furga A, Temple K, Willems PJ, Zankl A, Zweier C, De Paepe A, Coucke P, Mortier GR.

J Med Genet. 2006 May;43(5):406-13. Epub 2005 Sep 9.

PMID:
16155195
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.

Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafé L, Spranger J, Zabel B, Superti-Furga A.

Am J Med Genet A. 2005 Feb 15;133A(1):61-7.

PMID:
15643621
[PubMed - indexed for MEDLINE]
4.

ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type.

Furuichi T, Masuya H, Murakami T, Nishida K, Nishimura G, Suzuki T, Imaizumi K, Kudo T, Ohkawa K, Wakana S, Ikegawa S.

Mamm Genome. 2011 Jun;22(5-6):318-28. doi: 10.1007/s00335-011-9329-3. Epub 2011 May 3.

PMID:
21538020
[PubMed - indexed for MEDLINE]
5.
6.

Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene.

Ballo R, Beighton PH, Ramesar RS.

Am J Med Genet. 1998 Oct 30;80(1):6-11.

PMID:
9800905
[PubMed - indexed for MEDLINE]
7.

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.

Mortier GR, Weis M, Nuytinck L, King LM, Wilkin DJ, De Paepe A, Lachman RS, Rimoin DL, Eyre DR, Cohn DH.

J Med Genet. 2000 Apr;37(4):263-71.

PMID:
10745044
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Platyspondylic lethal dysplasia torrance type with a heterozygous mutation in the triple helical domain of COL2A1 in two sibs from phenotypically normal parents.

Okamoto T, Nagaya K, Asai H, Tsuchida E, Nohara F, Hayashi T, Yamashita A, Nishimura G, Azuma H.

Am J Med Genet A. 2012 Aug;158A(8):1953-6. doi: 10.1002/ajmg.a.35509. Epub 2012 Jun 18.

PMID:
22711552
[PubMed - indexed for MEDLINE]
9.

Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.

Spranger J, Menger H, Mundlos S, Winterpacht A, Zabel B.

Pediatr Radiol. 1994;24(6):431-5.

PMID:
7700721
[PubMed - indexed for MEDLINE]
10.

Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.

Tiller GE, Polumbo PA, Weis MA, Bogaert R, Lachman RS, Cohn DH, Rimoin DL, Eyre DR.

Nat Genet. 1995 Sep;11(1):87-9.

PMID:
7550321
[PubMed - indexed for MEDLINE]
11.

A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.

Tysoe C, Saunders J, White L, Hills N, Nicol M, Evans G, Cole T, Chapman S, Pope FM.

QJM. 2003 Sep;96(9):663-71.

PMID:
12925722
[PubMed - indexed for MEDLINE]
Free Article
12.

Small deletions in the type II collagen triple helix produce kniest dysplasia.

Wilkin DJ, Artz AS, South S, Lachman RS, Rimoin DL, Wilcox WR, McKusick VA, Stratakis CA, Francomano CA, Cohn DH.

Am J Med Genet. 1999 Jul 16;85(2):105-12.

PMID:
10406661
[PubMed - indexed for MEDLINE]
13.

A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia.

Miyamoto Y, Nakashima E, Hiraoka H, Ohashi H, Ikegawa S.

Hum Genet. 2005 Nov;118(2):175-8. Epub 2005 Nov 15.

PMID:
16189708
[PubMed - indexed for MEDLINE]
14.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.

Dansault A, David G, Schwartz C, Jaliffa C, Vieira V, de la Houssaye G, Bigot K, Catin F, Tattu L, Chopin C, Halimi P, Roche O, Van Regemorter N, Munier F, Schorderet D, Dufier JL, Marsac C, Ricquier D, Menasche M, Penfornis A, Abitbol M.

Mol Vis. 2007 Apr 2;13:511-23.

PMID:
17417613
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule.

Richards AJ, Morgan J, Bearcroft PW, Pickering E, Owen MJ, Holmans P, Williams N, Tysoe C, Pope FM, Snead MP, Hughes H.

J Med Genet. 2002 Sep;39(9):661-5.

PMID:
12205109
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Novel and recurrent COL2A1 mutations in Chinese patients with spondyloepiphyseal dysplasia.

Cao LH, Wang L, Ji CY, Wang LB, Ma HW, Luo Y.

Genet Mol Res. 2012 Dec 3;11(4):4130-7. doi: 10.4238/2012.September.27.1.

PMID:
23079993
[PubMed - indexed for MEDLINE]
Free Article
19.

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.

PMID:
11007540
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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
[PubMed - indexed for MEDLINE]

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