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Results: 1 to 20 of 108

1.

A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization.

Isidor B, Geffroy L, de Courtivron B, Le Caignec C, Thiel CT, Mortier G, Cormier-Daire V, David A, Toutain A.

Am J Med Genet A. 2013 Oct;161(10):2645-51. doi: 10.1002/ajmg.a.36132. Epub 2013 Aug 16.

PMID:
23956136
[PubMed - indexed for MEDLINE]
2.

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
3.

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]
4.

Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD).

Kaitila I, Körkkö J, Marttinen E, Ala-Kokko L.

Am J Med Genet. 1996 May 3;63(1):111-22.

PMID:
8723096
[PubMed - indexed for MEDLINE]
5.

New form of spondyloepimetaphyseal dysplasia (SEMD) in Jewish family of Iraqi origin.

Shohat M, Lachman R, Carmi R, Bar Ziv J, Rimoin D.

Am J Med Genet. 1993 Jun 1;46(4):358-62.

PMID:
8357004
[PubMed - indexed for MEDLINE]
6.

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]
7.

Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence.

Rozovsky K, Sosna J, Le Merrer M, Simanovsky N, Koplewitz BZ, Bar-Ziv J, Cormier-Daire V, Raas-Rothschild A.

Pediatr Radiol. 2011 Oct;41(10):1298-307. doi: 10.1007/s00247-011-2123-2. Epub 2011 Aug 5.

PMID:
21818555
[PubMed - indexed for MEDLINE]
8.

Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD.

Borochowitz ZU, Scheffer D, Adir V, Dagoneau N, Munnich A, Cormier-Daire V.

J Med Genet. 2004 May;41(5):366-72. No abstract available.

PMID:
15121775
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Spondyloepimetaphyseal dysplasia (SEMD) Shohat type.

Figuera LE, Ramírez-Dueñas ML, Gallegos-Arreola MP, Cantú JM.

Am J Med Genet. 1994 Jul 1;51(3):213-5.

PMID:
8074146
[PubMed - indexed for MEDLINE]
10.

Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype.

Tüysüz B, Yılmaz S, Gül E, Kolb L, Bilguvar K, Evliyaoğlu O, Günel M.

Am J Med Genet A. 2013 Jun;161A(6):1300-8. doi: 10.1002/ajmg.a.35906. Epub 2013 Apr 30.

PMID:
23633440
[PubMed - in process]
11.

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]
12.

Severe neonatal spondylometaphyseal dysplasia in two siblings.

Czarny-Ratajczak M, Chrzanowska K, Bieganski T, Sulko J, Baranska D, Kocyla-Karczmarewicz B, Kuszel L, Jakubowski L, Niedzielski K, Kozlowski K.

Am J Med Genet A. 2009 Oct;149A(10):2166-72. doi: 10.1002/ajmg.a.33016.

PMID:
19764033
[PubMed - indexed for MEDLINE]
13.

MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).

Kennedy AM, Inada M, Krane SM, Christie PT, Harding B, López-Otín C, Sánchez LM, Pannett AA, Dearlove A, Hartley C, Byrne MH, Reed AA, Nesbit MA, Whyte MP, Thakker RV.

J Clin Invest. 2005 Oct;115(10):2832-42.

PMID:
16167086
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type.

Amirfeyz R, Taylor A, Smithson SF, Gargan MF.

J Pediatr Orthop B. 2006 Jan;15(1):41-4.

PMID:
16280719
[PubMed - indexed for MEDLINE]
15.

Linkage studies of a Missouri kindred with autosomal dominant spondyloepimetaphyseal dysplasia (SEMD) indicate genetic heterogeneity.

Gertner JM, Whyte MP, Dixon PH, Pang JT, Trump D, Pearce SH, Wooding C, Thakker RV.

J Bone Miner Res. 1997 Aug;12(8):1204-9.

PMID:
9258750
[PubMed - indexed for MEDLINE]
16.

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]
17.

Spondyloepimetaphyseal dysplasia: clinical and radiologic investigation of a large kindred manifesting autosomal dominant inheritance, and a review of the literature.

Patel AC, McAlister WH, Whyte MP.

Medicine (Baltimore). 1993 Sep;72(5):326-42. Review.

PMID:
8412645
[PubMed - indexed for MEDLINE]
18.

A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene.

Sellick GS, Hoornaert KP, Mortier GR, King C, Dolling CL, Newbury-Ecob RA, Gargan M, Hall CM, Houlston RS, Smithson SF.

Clin Dysmorphol. 2006 Oct;15(4):197-202.

PMID:
16957471
[PubMed - indexed for MEDLINE]
19.

Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita.

Sulko J, Czarny-Ratajczak M, Wozniak A, Latos-Bielenska A, Kozlowski K.

Am J Med Genet A. 2005 Sep 1;137A(3):292-7.

PMID:
16088915
[PubMed - indexed for MEDLINE]
20.

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]

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