(Q41485424)

English

A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix

scientific article published on March 1994

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scholarly article

1 reference

Europe PubMed Central

1 October 2017

A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix (English)

1 reference

Europe PubMed Central

1 October 2017

extracellular matrix

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multiple epiphyseal dysplasia

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based on heuristic

inferred from title

1

object named as

D L Rimoin

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Europe PubMed Central

1 October 2017

author name string

I M Rasmussen

2

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Europe PubMed Central

1 October 2017

M D Briggs

3

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Europe PubMed Central

1 October 2017

P J Roughley

4

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Europe PubMed Central

1 October 2017

H E Gruber

5

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Europe PubMed Central

1 October 2017

M L Warman

6

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Europe PubMed Central

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B R Olsen

7

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Europe PubMed Central

1 October 2017

Y E Hsia

8

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Europe PubMed Central

1 October 2017

J Yuen

9

1 reference

Europe PubMed Central

1 October 2017

K Reinker

10

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publication date

1 March 1994

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Europe PubMed Central

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Europe PubMed Central

1 October 2017

93

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Europe PubMed Central

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3

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236-242

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https://scigraph.springernature.com/pub.10.1007/bf00212015

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complete coding sequence and deduced primary structure of the human cartilage large aggregating proteoglycan, aggrecan. Human-specific repeats, and additional alternatively spliced forms.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

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/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Mutation in the Amino-Terminal End of the Triple Helix of Type II Collagen Causing Severe Osteochondrodysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of the molecular defect in a family with spondyloepiphyseal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

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/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Length polymorphism within a complex dinucleotide repeat in the human decorin (DCN) gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial sequence of a candidate gene for the Marfan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

TaqI and HaeIII RFLP polymorphisms in human proteoglycan link gene (CRTL1)

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Brittle bones--fragile molecules: disorders of collagen gene structure and expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A unique rough surfaced endoplasmic reticulum inclusion in pseudoachondroplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

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/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

International classification of osteochondrodysplasias. International Working Group on Constitutional Diseases of Bone

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal d

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Physical and linkage mapping of the human and murine genes for the alpha 1 chain of type IX collagen (COL9A1)

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Morphological and biochemical study of growth cartilage in osteochondrodysplasias

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

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/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dinucleotide repeat polymorphism for the hexabrachion gene (HXB) on chromosome 9q32–34

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cosegregation of elastin-associated microfibrillar abnormalities with the Marfan phenotype in families

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Exclusion of type II and type VI procollagen gene mutations in a five-generation family with multiple epiphyseal dysplasia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The biochemical defect of pseudoachondroplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple epiphyseal dysplasia, Fairbank type: morphologic and biochemical study of cartilage

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heteroduplex analysis can increase the informativeness of PCR-amplified VNTR markers: application using a marker tightly linked to the COL2A1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7907311

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00212015

1 reference

Europe PubMed Central

1 October 2017

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0 references

1 reference

Europe PubMed Central

1 October 2017

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