(Q55670935)

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

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Europe PubMed Central

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27 October 2019

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

1 reference

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27 October 2019

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author name string

C J Williams

1

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27 October 2019

E L Considine

2

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27 October 2019

R G Knowlton

3

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27 October 2019

A Reginato

4

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27 October 2019

G Neumann

5

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27 October 2019

D Harrison

6

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27 October 2019

P Buxton

7

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27 October 2019

S Jimenez

8

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27 October 2019

D J Prockop

9

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27 October 2019

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1 November 1993

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27 October 2019

1 reference

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27 October 2019

92

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27 October 2019

5

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27 October 2019

499-505

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27 October 2019

https://scigraph.springernature.com/pub.10.1007/bf00216458

0 references

Polymorphic DNA region adjacent to the 5' end of the human insulin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8244341

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/8244341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1

1 reference

https://pubmed.ncbi.nlm.nih.gov/8244341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/8244341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen

1 reference

https://pubmed.ncbi.nlm.nih.gov/8244341

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/8244341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Type II collagen screening in the human chondrodysplasias

1 reference

https://pubmed.ncbi.nlm.nih.gov/8244341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

5 Kilo-sequencing: Creation of an ordered nest of asymmetric deletions across a large target sequence carried on phage M13

1 reference

https://pubmed.ncbi.nlm.nih.gov/8244341

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/8244341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita

1 reference

https://pubmed.ncbi.nlm.nih.gov/8244341

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/8244341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8244341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8244341

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/8244341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI)

1 reference

https://pubmed.ncbi.nlm.nih.gov/8244341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Use of highly polymorphic DNA probes for genotypic analysis following bone marrow transplantation

1 reference

https://pubmed.ncbi.nlm.nih.gov/8244341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A highly polymorphic region 3' to the human type II collagen gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8244341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Namaqualand hip dysplasia: an autosomal dominant entity.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8244341

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/8244341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA sequencing with chain-terminating inhibitors

1 reference

https://pubmed.ncbi.nlm.nih.gov/8244341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spondylo-epiphyseal dysplasia with ankylosing development. Apropos of a case

1 reference

https://pubmed.ncbi.nlm.nih.gov/8244341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A three allele restriction fragment length polymorphism within the human Col2A1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8244341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Brachydactyly, type E: hereditary shortening of digits, metacarpals, metatarsals, and long bones

1 reference

https://pubmed.ncbi.nlm.nih.gov/8244341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cartilage expression of a type II collagen mutation in an inherited form of osteoarthritis associated with a mild chondrodysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8244341

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/8244341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8244341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An unusual form of familial osteodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8244341

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/8244341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal-spondyloperipheral dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8244341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8244341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/8244341

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/8244341

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/8244341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation and partial characterization of genomic clones coding for a human pro-alpha 1 (II) collagen chain and demonstration of restriction fragment length polymorphism at the 3' end of the gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8244341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid and reliable protocol for direct sequencing of material amplified by the polymerase chain reaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/8244341

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00216458

1 reference

Europe PubMed Central

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27 October 2019

Dimensions Publication ID

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1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8244341%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

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