Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities. (Q52089031)

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scientific article published on 25 July 2017

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Language	Label	Description	Also known as
English	Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.	scientific article published on 25 July 2017

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instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28742248

retrieved

22 April 2018

reference URL

http://europepmc.org/abstract/MED/28742248

title

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities. (English)

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28742248

retrieved

22 April 2018

reference URL

http://europepmc.org/abstract/MED/28742248

main subject

connective tissue

1 reference

based on heuristic

inferred from title

author

Denise Horn

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28742248

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28742248%20AND%20SRC:MED&resulttype=core&format=json

retrieved

6 June 2020

Rami Abou Jamra

series ordinal

6

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28742248

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28742248%20AND%20SRC:MED&resulttype=core&format=json

retrieved

6 June 2020

author name string

Eberhard Siebert

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28742248

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28742248%20AND%20SRC:MED&resulttype=core&format=json

retrieved

6 June 2020

Ulrich Seidel

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28742248

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28742248%20AND%20SRC:MED&resulttype=core&format=json

retrieved

6 June 2020

Imma Rost

series ordinal

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28742248

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28742248%20AND%20SRC:MED&resulttype=core&format=json

retrieved

6 June 2020

Karin Mayer

series ordinal

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28742248

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28742248%20AND%20SRC:MED&resulttype=core&format=json

retrieved

6 June 2020

Diana Mitter

series ordinal

7

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28742248

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28742248%20AND%20SRC:MED&resulttype=core&format=json

retrieved

6 June 2020

Uwe Kornak

series ordinal

8

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28742248

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28742248%20AND%20SRC:MED&resulttype=core&format=json

retrieved

6 June 2020

language of work or name

English

0 references

publication date

25 July 2017

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28742248

retrieved

22 April 2018

reference URL

http://europepmc.org/abstract/MED/28742248

published in

American Journal of Medical Genetics

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28742248

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28742248%20AND%20SRC:MED&resulttype=core&format=json

retrieved

6 June 2020

volume

173

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28742248

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28742248%20AND%20SRC:MED&resulttype=core&format=json

retrieved

6 June 2020

issue

9

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28742248

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28742248%20AND%20SRC:MED&resulttype=core&format=json

retrieved

6 June 2020

page(s)

2534-2538

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28742248

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28742248%20AND%20SRC:MED&resulttype=core&format=json

retrieved

6 June 2020

cites work

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.38345

retrieved

21 January 2018

Ehlers-Danlos syndrome type IV

1 reference

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reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.38345

retrieved

21 January 2018

Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.38345

retrieved

21 January 2018

Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.38345

retrieved

21 January 2018

Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.38345

retrieved

21 January 2018

G protein-coupled receptor-dependent development of human frontal cortex

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.38345

retrieved

21 January 2018

Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.38345

retrieved

21 January 2018

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.38345

retrieved

21 January 2018

Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.38345

retrieved

21 January 2018

Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.38345

retrieved

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.38345

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28742248

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28742248%20AND%20SRC:MED&resulttype=core&format=json

retrieved

6 June 2020

PubMed publication ID

28742248

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28742248

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28742248%20AND%20SRC:MED&resulttype=core&format=json

retrieved

6 June 2020

 

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