(Q72119824)

English

Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia

scientific article published on 01 January 1994

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7700721%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7700721%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Kniest dysplasia

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

J Spranger

1

1 reference

Europe PubMed Central

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24 October 2019

H Menger

2

1 reference

Europe PubMed Central

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24 October 2019

S Mundlos

3

1 reference

Europe PubMed Central

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24 October 2019

A Winterpacht

4

1 reference

Europe PubMed Central

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24 October 2019

B Zabel

5

1 reference

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24 October 2019

publication date

1 January 1994

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Europe PubMed Central

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24 October 2019

Pediatric Radiology

1 reference

Europe PubMed Central

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24 October 2019

24

1 reference

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24 October 2019

6

1 reference

Europe PubMed Central

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24 October 2019

431-435

1 reference

Europe PubMed Central

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24 October 2019

https://scigraph.springernature.com/pub.10.1007/bf02011911

0 references

Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect

1 reference

https://pubmed.ncbi.nlm.nih.gov/7700721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY

1 reference

https://pubmed.ncbi.nlm.nih.gov/7700721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Procollagen II Gene Mutation in Stickler Syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7700721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon

1 reference

https://pubmed.ncbi.nlm.nih.gov/7700721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PREDISPOSITION TO FAMILIAL OSTEOARTHROSIS LINKED TO TYPE II COLLAGEN GENE

1 reference

https://pubmed.ncbi.nlm.nih.gov/7700721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Differential diagnosis between dysostosis enchondralis and chondrodystrophy]

1 reference

https://pubmed.ncbi.nlm.nih.gov/7700721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/7700721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Kniest dysplasia is characterized by an apparent abnormal processing of the C-propeptide of type II cartilage collagen resulting in imperfect fibril assembly

1 reference

https://pubmed.ncbi.nlm.nih.gov/7700721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The type II collagenopathies: a spectrum of chondrodysplasias

1 reference

https://pubmed.ncbi.nlm.nih.gov/7700721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Wagner-Stickler syndrome: A study of 22 families

1 reference

https://pubmed.ncbi.nlm.nih.gov/7700721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent

1 reference

https://pubmed.ncbi.nlm.nih.gov/7700721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Skeletal abnormalities in the Kniest syndrome with mucopolysacchariduria

1 reference

https://pubmed.ncbi.nlm.nih.gov/7700721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic cell mosaicism: Another source of phenotypic heterogeneity in nuclear families with osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/7700721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteogenesis imperfecta: translation of mutation to phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/7700721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Stickler syndrome (hereditary arthroophthalmopathy)

1 reference

https://pubmed.ncbi.nlm.nih.gov/7700721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Kniest's disease, (a familial case)

1 reference

https://pubmed.ncbi.nlm.nih.gov/7700721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7700721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic and clinical heterogeneity of Stickler syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7700721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7700721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/7700721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1)

1 reference

https://pubmed.ncbi.nlm.nih.gov/7700721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7700721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Kniest's syndrome. Two cases with psychomotor retardation (author's transl)

1 reference

https://pubmed.ncbi.nlm.nih.gov/7700721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Kniest's disease]

1 reference

https://pubmed.ncbi.nlm.nih.gov/7700721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/7700721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variability of Stickler syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7700721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Kniest syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7700721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Kniest's syndrome (author's transl)

1 reference

https://pubmed.ncbi.nlm.nih.gov/7700721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF02011911

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7700721%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7700721%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

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