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Results: 1 to 20 of 415

1.

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]
2.

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]
3.

Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1.

Zankl A, Zabel B, Hilbert K, Wildhardt G, Cuenot S, Xavier B, Ha-Vinh R, Bonafé L, Spranger J, Superti-Furga A.

Am J Med Genet A. 2004 Aug 30;129A(2):144-8.

PMID:
15316962
[PubMed - indexed for MEDLINE]
4.

Czech dysplasia metatarsal type: another type II collagen disorder.

Hoornaert KP, Marik I, Kozlowski K, Cole T, Le Merrer M, Leroy JG, Coucke PJ, Sillence D, Mortier GR.

Eur J Hum Genet. 2007 Dec;15(12):1269-75. Epub 2007 Aug 29.

PMID:
17726487
[PubMed - indexed for MEDLINE]
Free Article
5.

Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation.

Désir J, Cassart M, Donner C, Coucke P, Abramowicz M, Mortier G.

Am J Med Genet A. 2012 Aug;158A(8):1948-52. doi: 10.1002/ajmg.a.35301. Epub 2012 Apr 11.

PMID:
22495950
[PubMed - indexed for MEDLINE]
6.

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]
7.

A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia.

Zabel B, Hilbert K, Stöss H, Superti-Furga A, Spranger J, Winterpacht A.

Am J Med Genet. 1996 May 3;63(1):123-8.

PMID:
8723097
[PubMed - indexed for MEDLINE]
8.

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]
9.

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
10.

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
11.

Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.

Nishimura G, Nakashima E, Mabuchi A, Shimamoto K, Shimamoto T, Shimao Y, Nagai T, Yamaguchi T, Kosaki R, Ohashi H, Makita Y, Ikegawa S.

J Med Genet. 2004 Jan;41(1):75-9. No abstract available.

PMID:
14729840
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type.

Neumann L, Kunze J, Uhl M, Stöver B, Zabel B, Spranger J.

Pediatr Radiol. 2003 Nov;33(11):786-90. Epub 2003 Sep 5. Review.

PMID:
12961049
[PubMed - indexed for MEDLINE]
13.

COL2A1-related skeletal dysplasias with predominant metaphyseal involvement.

Walter K, Tansek M, Tobias ES, Ikegawa S, Coucke P, Hyland J, Mortier G, Iwaya T, Nishimura G, Superti-Furga A, Unger S.

Am J Med Genet A. 2007 Jan 15;143(2):161-7.

PMID:
17163530
[PubMed - indexed for MEDLINE]
14.

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
15.

Extra pelvic ossification centers in thanatophoric dysplasia and platyspondylic lethal skeletal dysplasia-San Diego type.

Kitoh H, Lachman RS, Brodie SG, Mekikian PB, Rimoin DL, Wilcox WR.

Pediatr Radiol. 1998 Oct;28(10):759-63.

PMID:
9799297
[PubMed - indexed for MEDLINE]
16.

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
17.

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]
18.

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]
19.

Identification of one novel mutation in the C-propeptide of COL2A1 in a Chinese family with spondyloperipheral dysplasia.

Zhang Z, Zhao SC, He JW, Fu WZ, Zhang CQ, Zhang ZL.

Gene. 2013 Jun 10;522(1):107-10. doi: 10.1016/j.gene.2013.03.083. Epub 2013 Mar 29.

PMID:
23545312
[PubMed - indexed for MEDLINE]
20.

Type II collagenopathies: are there additional family members?

Freisinger P, Bonaventure J, Stoess H, Pontz BF, Emmrich P, Nerlich A.

Am J Med Genet. 1996 May 3;63(1):137-43.

PMID:
8723099
[PubMed - indexed for MEDLINE]

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