(Q36045072)

11 August 2017

0 references

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome (English)

1 reference

11 August 2017

Monica Sanchez-Contreras

Monica Y Sanchez-Contreras

2

0 references

Valérie Cormier-Daire

Valerie Cormier-Daire

7

0 references

Leslie G Biesecker

10

Leslie G Biesecker

1 reference

11 August 2017

Kim M Keppler-Noreuil

3

Kim M Keppler-Noreuil

1 reference

11 August 2017

8

Rosa Rademakers

1 reference

11 August 2017

Jennifer J Johnston

1

1 reference

11 August 2017

Julie Sapp

4

1 reference

11 August 2017

Molly Crenshaw

5

1 reference

11 August 2017

NiCole A Finch

6

1 reference

11 August 2017

Virginia P Sybert

9

1 reference

11 August 2017

language of work or name

English

0 references

publication date

12 August 2015

1 reference

American Journal of Human Genetics

11 August 2017

1 reference

11 August 2017

97

1 reference

11 August 2017

3

1 reference

11 August 2017

465-474

1 reference

Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564935

Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564935

Guidelines for investigating causality of sequence variants in human disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564935

PDGF receptor signaling networks in normal and cancer cells

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564935

De novo mutations in epileptic encephalopathies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564935

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564935

A recurrent PDGFRB mutation causes familial infantile myofibromatosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564935

Involvement of PDGF in fibrosis and scleroderma: recent insights from animal models and potential therapeutic opportunities

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564935

VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564935

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564935

Growth factors and cytokines in wound healing

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564935

2 October 2017

New progeroid disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564935

Processing of the platelet-derived growth factor receptor. Biosynthetic and degradation studies using anti-receptor antibodies

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564935

Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564935

First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: an exome analysis study.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564935

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564935

Stat3 contributes to keloid pathogenesis via promoting collagen production, cell proliferation and migration.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564935

Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4564935

10.1016/J.AJHG.2015.07.009

21 October 2018

Identifiers

DOI

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

26279204

1 reference