Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 82

1.

Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia.

Hecht JT, Blanton SH, Wang Y, Daiger SP, Horton WA, Rhodes C, Yamada Y, Francomano CA.

Am J Med Genet. 1992 Nov 1;44(4):420-4.

PMID:
1442879
2.

Exclusion of the COL2A1 gene as the mutation site in diastrophic dysplasia.

Elima K, Kaitila I, Mikonoja L, Elonsalo U, Peltonen L, Vuorio E.

J Med Genet. 1989 May;26(5):314-9.

3.

Achondroplasia is not caused by mutation in the gene for type II collagen.

Francomano CA, Pyeritz RE.

Am J Med Genet. 1988 Apr;29(4):955-61.

PMID:
2899976
4.

The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen.

Francomano CA, Liberfarb RM, Hirose T, Maumenee IH, Streeten EA, Meyers DA, Pyeritz RE.

Genomics. 1987 Dec;1(4):293-6.

PMID:
2896625
5.

Linkage of typical pseudoachondroplasia to chromosome 19.

Hecht JT, Francomano CA, Briggs MD, Deere M, Conner B, Horton WA, Warman M, Cohn DH, Blanton SH.

Genomics. 1993 Dec;18(3):661-6.

PMID:
8307577
6.

Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias.

Wordsworth P, Ogilvie D, Priestley L, Smith R, Wynne-Davies R, Sykes B.

J Med Genet. 1988 Aug;25(8):521-7.

7.

Correlation of linkage data with phenotype in eight families with Stickler syndrome.

Wilkin DJ, Mortier GR, Johnson CL, Jones MC, de Paepe A, Shohat M, Wildin RS, Falk RE, Cohn DH.

Am J Med Genet. 1998 Nov 2;80(2):121-7.

PMID:
9805127
8.

Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint unlinked to COL2A1.

Beighton P, Cilliers HJ, Ramesar R.

Am J Med Genet. 1994 Dec 1;53(4):348-51.

PMID:
7864044
9.

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.

10.
11.

Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene.

Eyre S, Roby P, Wolstencroft K, Spreckley K, Aspinwall R, Bayoumi R, Al-Gazali L, Ramesar R, Beighton P, Wallis G.

J Med Genet. 2002 Sep;39(9):634-8. Erratum in: J Med Genet. 2005 Jun;42(6):e34.

12.

Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II).

Loughlin J, Irven C, Hardwick LJ, Butcher S, Walsh S, Wordsworth P, Sykes B.

Hum Mol Genet. 1995 Sep;4(9):1649-51.

PMID:
8541855
13.

Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene.

Go SL, Maugeri A, Mulder JJ, van Driel MA, Cremers FP, Hoyng CB.

Invest Ophthalmol Vis Sci. 2003 Sep;44(9):4035-43.

PMID:
12939326
14.

Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen.

Anderson IJ, Tsipouras P, Scher C, Ramesar RS, Martell RW, Beighton P.

Am J Med Genet. 1990 Oct;37(2):272-6.

PMID:
1978986
15.
16.

Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree.

Nicholls AC, De Paepe A, Narcisi P, Dalgleish R, De Keyser F, Matton M, Pope FM.

Hum Genet. 1988 Mar;78(3):276-81.

PMID:
3162228
17.

The Stickler syndrome is closely linked to COL2A1, the structural gene for type II collagen.

Francomano CA, Liberfarb RM, Hirose T, Maumenee IH, Streeten EA, Meyers DA, Pyeritz RE.

Pathol Immunopathol Res. 1988;7(1-2):104-6. No abstract available.

PMID:
3222200
18.

Genetic linkage studies in autosomal dominant parkinsonism: evaluation of seven candidate genes.

Gasser T, Wszolek ZK, Trofatter J, Ozelius L, Uitti RJ, Lee CS, Gusella J, Pfeiffer RF, Calne DB, Breakefield XO.

Ann Neurol. 1994 Sep;36(3):387-96.

PMID:
7915897
19.

Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa.

Ryynänen M, Knowlton RG, Parente MG, Chung LC, Chu ML, Uitto J.

Am J Hum Genet. 1991 Oct;49(4):797-803.

20.

A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment.

Richards AJ, Meredith S, Poulson A, Bearcroft P, Crossland G, Baguley DM, Scott JD, Snead MP.

Invest Ophthalmol Vis Sci. 2005 Feb;46(2):663-8.

PMID:
15671297

Supplemental Content

Support Center