(Q67522975)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1358786%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

title

Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1358786%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

1 reference

J Bonaventure

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1358786%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

C Philippe

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1358786%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

G Plessis

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1358786%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

J Vigneron

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1358786%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

C Lasselin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1358786%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

P Maroteaux

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1358786%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

S Gilgenkrantz

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1358786%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

publication date

1 September 1992

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1358786%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1358786%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

volume

90

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1358786%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

issue

1-2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1358786%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

page(s)

164-168

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1358786%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00210766

14 September 2019

exact match

0 references

cites work

HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY

1 reference

12 December 2020

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

1 reference

12 December 2020

Strategies for multilocus linkage analysis in humans

1 reference

12 December 2020

Vitreoretinal Degeneration as a Sign of Generalized Connective Tissue Diseases

1 reference

12 December 2020

1 reference

12 December 2020

The Weissenbacher-Zweymüller syndrome: possible neonatal expression of the Stickler syndrome

1 reference

12 December 2020

Genetic and clinical heterogeneity of Stickler syndrome

1 reference

12 December 2020

Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)

1 reference

12 December 2020

Isolation and partial characterization of the entire human pro alpha 1(II) collagen gene

1 reference

12 December 2020

Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene.

1 reference

12 December 2020

Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome

1 reference

12 December 2020

Amplification of the COL2A1 3' variable region used for segregation analysis in a family with the Stickler syndrome

1 reference

12 December 2020

The Weissenbacher-Zweymüller, Stickler, and Marshall syndromes: further evidence for their identity.

1 reference

12 December 2020

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

1 reference

12 December 2020