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Items: 1 to 20 of 28

1.

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.

2.

Mutations in collagen genes resulting in metaphyseal and epiphyseal dysplasias.

Olsen BR.

Bone. 1995 Aug;17(2 Suppl):45S-49S. Review.

PMID:
8579897
3.

Heritable diseases of cartilage caused by mutations in collagen genes.

Williams CJ, Jimenez SA.

J Rheumatol Suppl. 1995 Feb;43:28-33. Review.

PMID:
7752129
4.

Murine models of human genetic skeletal disorders.

Li Y, Olsen BR.

Matrix Biol. 1997 May;16(2):49-52. Review.

PMID:
9205941
5.

A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome.

Vuoristo MM, Pappas JG, Jansen V, Ala-Kokko L.

Am J Med Genet A. 2004 Oct 1;130A(2):160-4. Review.

PMID:
15372529
6.

Hereditary vitreopathy.

Snead MP.

Eye (Lond). 1996;10 ( Pt 6):653-63. Review.

PMID:
9091360
8.

The type XI collagenopathies.

Spranger J.

Pediatr Radiol. 1998 Oct;28(10):745-50. Review.

PMID:
9799295
9.

Hearing impairment in Stickler syndrome: a systematic review.

Acke FR, Dhooge IJ, Malfait F, De Leenheer EM.

Orphanet J Rare Dis. 2012 Oct 30;7:84. doi: 10.1186/1750-1172-7-84. Review.

10.

[Osteochondrodysplasia determined genetically by a collagen type II gene mutation].

Czarny-Ratajczak M, Rogala P, Wolnik-Brzozowska D, Latos-Bieleńska A.

Chir Narzadow Ruchu Ortop Pol. 2001;66(1):79-86. Review. Polish.

PMID:
11481990
11.

The roles of collagen genes in skeletal development and morphogenesis.

Olsen BR.

Experientia. 1995 Mar 15;51(3):194-5. Review. No abstract available.

PMID:
7698270
12.

Transgenic mice as models for heritable diseases.

Metsäranta M, Vuorio E.

Ann Med. 1992 Apr;24(2):117-20. Review.

PMID:
1610538
13.

Clinical--molecular correlations in the skeletal dysplasias.

Rimoin DL, Cohn DH, Eyre D.

Pediatr Radiol. 1994;24(6):425-6. Review. No abstract available.

PMID:
7700719
14.

Multiple epiphyseal dysplasia.

Anthony S, Munk R, Skakun W, Masini M.

J Am Acad Orthop Surg. 2015 Mar;23(3):164-72. doi: 10.5435/JAAOS-D-13-00173. Review. Erratum in: J Am Acad Orthop Surg. 2015 Apr;23(4):266.

PMID:
25667404
15.
16.

Human genetic disorders and knockout mice deficient in glycosaminoglycan.

Mizumoto S, Yamada S, Sugahara K.

Biomed Res Int. 2014;2014:495764. doi: 10.1155/2014/495764. Review.

17.

Recent advances in molecular analysis of skeletal dysplasia.

Ozono K.

Acta Paediatr Jpn. 1997 Aug;39(4):491-8. Review.

PMID:
9316299
18.
19.

Collagen and collagen gene disorders.

Sykes B, Smith R.

Q J Med. 1985 Sep;56(221):533-47. Review. No abstract available.

PMID:
3903825
20.

[Single gene disorder].

Taniguchi M, Kurahashi H.

Nihon Rinsho. 2005 Dec;63 Suppl 12:57-63. Review. Japanese. No abstract available.

PMID:
16416771
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