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Results: 1 to 20 of 102

1.

Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report.

Bedeschi MF, Bianchi V, Gentilin B, Colombo L, Natacci F, Giglio S, Andreucci E, Trespidi L, Acaia B, Furga AS, Lalatta F.

Orphanet J Rare Dis. 2011 Feb 28;6:7. doi: 10.1186/1750-1172-6-7.

PMID:
21356074
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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]
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.

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]
5.

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]
6.

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
7.

Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay.

Cui YX, Xia XY, Bu Y, Zhou GH, Yang B, Lu HY, Shi YC, Pan LJ, Huang YF, Li XJ.

Genet Test. 2008 Dec;12(4):533-6. doi: 10.1089/gte.2008.0037.

PMID:
19072565
[PubMed - indexed for MEDLINE]
8.

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]
9.

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]
10.

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]
11.

Spondyloepiphyseal dysplasia Maroteaux type: report of three patients from two families and exclusion of type II collagen defects.

Nishimura G, Kizu R, Kijima Y, Sakai K, Kawaguchi Y, Kimura T, Matsushita I, Shirahama S, Ikeda T, Ikegawa S, Hasegawa T.

Am J Med Genet A. 2003 Aug 1;120A(4):498-502.

PMID:
12884428
[PubMed - indexed for MEDLINE]
12.

[Prenatal diagnosis of skeletal dysplasia: case report of a fetus with multiple anomalies].

Novakov Mikić A, Stojić S, Konstantinidis G, Ristivojević A, Krnojelac D.

Med Pregl. 2000 Mar-Apr;53(3-4):197-201. Croatian.

PMID:
10965689
[PubMed - indexed for MEDLINE]
13.

A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father.

Forzano F, Lituania M, Viassolo A, Superti-Furga V, Wildhardt G, Zabel B, Faravelli F.

Am J Med Genet A. 2007 Dec 1;143A(23):2815-20.

PMID:
17994563
[PubMed - indexed for MEDLINE]
14.

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
15.

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
16.

Molecular prenatal diagnosis in 2 pregnancies at risk for spondyloepiphyseal dysplasia congenita.

Xia XY, Cui YX, Huang YF, Pan LJ, Feng Y, Yang B, Li XJ, Zhu PY, Shi YC, Liang Q.

Clin Chim Acta. 2008 Jan;387(1-2):153-7. Epub 2007 Sep 18.

PMID:
17920052
[PubMed - indexed for MEDLINE]
17.

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;143A(2):161-7.

PMID:
17163530
[PubMed - indexed for MEDLINE]
18.

Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia congenita.

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

Biochem Biophys Res Commun. 2011 Oct 7;413(4):504-8. doi: 10.1016/j.bbrc.2011.08.090. Epub 2011 Sep 6.

PMID:
21924244
[PubMed - indexed for MEDLINE]
19.

Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation.

Kannu P, Irving M, Aftimos S, Savarirayan R.

Clin Orthop Relat Res. 2011 Jun;469(6):1785-90. doi: 10.1007/s11999-011-1850-x. Epub 2011 Mar 26.

PMID:
21442341
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.

Terhal PA, van Dommelen P, Le Merrer M, Zankl A, Simon ME, Smithson SF, Marcelis C, Kerr B, Kinning E, Mansour S, Hennekam RC, van der Hout AH, Cormier-Daire V, Lund AM, Goodwin L, Mégarbané A, Lees M, Betz RC, Tobias ES, Coucke P, Mortier GR.

Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):205-16. doi: 10.1002/ajmg.c.31332. Epub 2012 Jul 12.

PMID:
22791362
[PubMed - indexed for MEDLINE]

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