(Q36983068)

English

Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations

scientific article published on 15 December 2015

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations (English)

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

osteogenesis imperfecta

0 references

William B. Dobyns

8

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Fowzan S Alkuraya

7

object named as

Fowzan S Alkuraya

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

author name string

Kimberly A Aldinger

1

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Nancy J Mendelsohn

2

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Brian Hy Chung

3

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Wenjuan Zhang

4

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Daniel H Cohn

5

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Bridget Fernandez

6

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Cynthia J Curry

9

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

language of work or name

0 references

publication date

15 December 2015

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Journal of Medical Genetics

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Europe PubMed Central

PMC publication ID

17 August 2017

53

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

6

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

427-430

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4898782

29 September 2017

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4898782

29 September 2017

WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4898782

29 September 2017

Mutations in WNT1 cause different forms of bone fragility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4898782

29 September 2017

Wnt signaling in development, disease and translational medicine.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4898782

29 September 2017

Mutations in PTF1A cause pancreatic and cerebellar agenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4898782

29 September 2017

Analysis and classification of cerebellar malformations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4898782

29 September 2017

The Wnt-1 (int-1) proto-oncogene is required for development of a large region of the mouse brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4898782

29 September 2017

Wnt1 expression temporally allocates upper rhombic lip progenitors and defines their terminal cell fate in the cerebellum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4898782

27 June 2018

Unilateral cerebellar aplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4898782

27 June 2018

Swaying is a mutant allele of the proto-oncogene Wnt-1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4898782

27 June 2018

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4898782

4 September 2018

WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4898782

4 September 2018

A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4898782

4 September 2018

Cerebellar cleft: a form of prenatal cerebellar disruption.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4898782

4 September 2018

Mutations in WNT1 are a cause of osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/26671912

12 December 2020

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inferred from PubMed ID database lookup

Identifiers

10.1136/JMEDGENET-2015-103476

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

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