(Q33680918)

English

New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Ehlers-Danlos syndrome

0 references

De Barsy syndrome

1 reference

based on heuristic

inferred from title

gerodermia osteodysplastica

1 reference

based on heuristic

inferred from title

author name string

Jukkola A

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Kauppila S

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Risteli L

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Vuopala K

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Risteli J

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Leisti J

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Pajunen L

7

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

language of work or name

0 references

publication date

1 June 1998

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

full work available at URL

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051350

0 references

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

35

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

513-518

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Molecular cloning and carboxyl-propeptide analysis of human type III procollagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051350

21 June 2018

De Barsy syndrome--an autosomal recessive, progeroid syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051350

21 June 2018

Cloning of full-length elastin cDNAs from a human skin fibroblast recombinant cDNA library: further elucidation of alternative splicing utilizing exon-specific oligonucleotides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051350

21 June 2018

Type III collagen mutations in Ehlers Danlos syndrome type IV and other related disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051350

21 June 2018

The family of collagen genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051350

21 June 2018

Geroderma osteodysplastica. A report of two affected families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051350

21 June 2018

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051350

21 June 2018

Gerodermia osteodysplastica hereditaria: report of three affected brothers and literature review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051350

21 June 2018

Geroderma osteodysplastica hereditaria (GOH) in a girl.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051350

30 October 2018

Structure of a cDNA for the pro alpha 2 chain of human type I procollagen. Comparison with chick cDNA for pro alpha 2(I) identifies structurally conserved features of the protein and the gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051350

30 October 2018

Radioimmunoassay of the carboxyterminal propeptide of human type I procollagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051350

30 October 2018

Coordinated regulation of type I and type III collagen production and mRNA levels of pro alpha 1(I) and pro alpha 2(I) collagen in cultured morphea fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/9643297

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Incorporation of sulphate into type III procollagen by cultured human fibroblasts. Identification of tyrosine O-sulphate

1 reference

https://pubmed.ncbi.nlm.nih.gov/9643297

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dwarfism, oligophrenia and degeneration of the elastic tissue in skin and cornea. A new syndrome?

1 reference

https://pubmed.ncbi.nlm.nih.gov/9643297

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A sex-linked disorder: hereditary osteodysplastic geroderma (20 years of observation)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9643297

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid equilibrium radioimmunoassay for the amino-terminal propeptide of human type III procollagen

1 reference

https://pubmed.ncbi.nlm.nih.gov/9643297

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.35.6.513

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

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