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Items: 20

1.

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
2.

[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
3.

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
4.

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
5.

The type XI collagenopathies.

Spranger J.

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

PMID:
9799295
6.

Cardiac malformation in two infants with hypochondrogenesis.

Potocki L, Abuelo DN, Oyer CE.

Am J Med Genet. 1995 Nov 20;59(3):295-9. Review.

PMID:
8599352
7.

Molecular genetics of the COL2A1-related disorders.

Deng H, Huang X, Yuan L.

Mutat Res Rev Mutat Res. 2016 Apr-Jun;768:1-13. doi: 10.1016/j.mrrev.2016.02.003. Epub 2016 Mar 2. Review.

PMID:
27234559
8.

Clinical phenotypes associated with type II collagen mutations.

Kannu P, Bateman J, Savarirayan R.

J Paediatr Child Health. 2012 Feb;48(2):E38-43. doi: 10.1111/j.1440-1754.2010.01979.x. Epub 2011 Feb 18. Review.

PMID:
21332586
10.

Progressive pseudorheumatoid dysplasia: report of a family and review.

el-Shanti HE, Omari HZ, Qubain HI.

J Med Genet. 1997 Jul;34(7):559-63. Review.

11.

The genetic basis of the osteochondrodysplasias.

Baitner AC, Maurer SG, Gruen MB, Di Cesare PE.

J Pediatr Orthop. 2000 Sep-Oct;20(5):594-605. Review.

PMID:
11008738
12.

Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literature.

Geneviève D, Le Merrer M, Feingold J, Munnich A, Maroteaux P, Cormier-Daire V.

Am J Med Genet A. 2008 Apr 15;146A(8):992-6. doi: 10.1002/ajmg.a.32191. Review.

PMID:
18348257
13.

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
14.

Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature.

Mégarbané A, Maroteaux P, Caillaud C, Le Merrer M.

Am J Med Genet A. 2004 Feb 15;125A(1):61-6. Review.

PMID:
14755468
15.

Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.

Grigelioniene G, Geiberger S, Horemuzova E, Moström E, Jäntti N, Neumeyer L, Åström E, Nordenskjöld M, Nordgren A, Mäkitie O.

Am J Med Genet A. 2014 Jul;164A(7):1635-41. doi: 10.1002/ajmg.a.36502. Epub 2014 Mar 26. Review.

PMID:
24677493
16.

The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases.

Gibson BG, Briggs MD.

Orphanet J Rare Dis. 2016 Jun 28;11(1):86. doi: 10.1186/s13023-016-0459-2. Review.

17.

Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups.

Borochowitz Z, Lachman R, Adomian GE, Spear G, Jones K, Rimoin DL.

J Pediatr. 1988 Jan;112(1):23-31. Review.

PMID:
3275766
18.

Autosomal dominant inheritance of spondyloenchondrodysplasia.

Bhargava R, Leonard NJ, Chan AK, Spranger J.

Am J Med Genet A. 2005 Jun 15;135(3):282-8. Review.

PMID:
15887273
19.
20.

[Diversified expression and function of minor fibrillar collagen].

Yoshioka H.

Seikagaku. 1999 Jun;71(6):432-8. Review. Japanese. No abstract available.

PMID:
10432836

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