Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 10

1.

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
2.

The type XI collagenopathies.

Spranger J.

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

PMID:
9799295
3.

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.

Barat-Houari M, Sarrabay G, Gatinois V, Fabre A, Dumont B, Genevieve D, Touitou I.

Hum Mutat. 2016 Jan;37(1):7-15. doi: 10.1002/humu.22915. Epub 2015 Oct 21. Review.

PMID:
26443184
4.

The type II collagenopathies: a spectrum of chondrodysplasias.

Spranger J, Winterpacht A, Zabel B.

Eur J Pediatr. 1994 Feb;153(2):56-65. Review.

PMID:
8157027
5.

[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
6.

Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder.

Chitayat D, Gruber H, Mullen BJ, Pauzner D, Costa T, Lachman R, Rimoin DL.

Am J Med Genet. 1993 Aug 15;47(2):272-7. Review.

PMID:
8213919
7.

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
8.

Premature osteoarthritis as presenting sign of type II collagenopathy: a case report and literature review.

Husar-Memmer E, Ekici A, Al Kaissi A, Sticht H, Manger B, Schett G, Zwerina J.

Semin Arthritis Rheum. 2013 Feb;42(4):355-60. doi: 10.1016/j.semarthrit.2012.05.002. Epub 2012 Jun 19. Review.

PMID:
22717203
9.

[Changes in the epiphysis and epiphyseal plate in systemic and genetically-induced diseases].

Enderle A.

Z Orthop Ihre Grenzgeb. 1996 Jul-Aug;134(4):309-16. Review. German.

PMID:
8928558
10.

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

Supplemental Content

Support Center