(Q36909348)

17 August 2017

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis (English)

1 reference

17 August 2017

27

Elaine Zackai

1 reference

17 August 2017

28

Hakon Hakonarson

1 reference

17 August 2017

John A Martignetti

1

1 reference

17 August 2017

Lifeng Tian

2

1 reference

17 August 2017

Dong Li

3

1 reference

17 August 2017

Maria Celeste M Ramirez

4

1 reference

17 August 2017

Olga Camacho-Vanegas

5

1 reference

17 August 2017

Sandra Catalina Camacho

6

1 reference

17 August 2017

Yiran Guo

7

1 reference

17 August 2017

Dina J Zand

8

1 reference

17 August 2017

Audrey M Bernstein

9

1 reference

17 August 2017

Sandra K Masur

10

1 reference

17 August 2017

Cecilia E Kim

11

1 reference

17 August 2017

Frederick G Otieno

12

1 reference

17 August 2017

Cuiping Hou

13

1 reference

17 August 2017

Nada Abdel-Magid

14

1 reference

17 August 2017

Ben Tweddale

15

1 reference

17 August 2017

Denise Metry

16

1 reference

17 August 2017

Jean-Christophe Fournet

17

1 reference

17 August 2017

Eniko Papp

18

1 reference

17 August 2017

Elizabeth W McPherson

19

1 reference

17 August 2017

Carrie Zabel

20

1 reference

17 August 2017

Guy Vaksmann

21

1 reference

17 August 2017

Cyril Morisot

22

1 reference

17 August 2017

Brendan Keating

23

1 reference

17 August 2017

Patrick M Sleiman

24

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17 August 2017

Jeffrey A Cleveland

25

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17 August 2017

David B Everman

26

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17 August 2017

language of work or name

English

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publication date

23 May 2013

1 reference

American Journal of Human Genetics

17 August 2017

1 reference

17 August 2017

92

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17 August 2017

6

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17 August 2017

1001-1007

1 reference

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675260

Degradation of internalized αvβ5 integrin is controlled by uPAR bound uPA: effect on β1 integrin activity and α-SMA stress fiber assembly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675260

A framework for variation discovery and genotyping using next-generation DNA sequencing data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675260

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675260

Robust relationship inference in genome-wide association studies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675260

MutationTaster evaluates disease-causing potential of sequence alterations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675260

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675260

A method and server for predicting damaging missense mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675260

Exome sequencing identifies the cause of a mendelian disorder

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675260

Identification of deleterious mutations within three human genomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675260

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675260

Fast and accurate short read alignment with Burrows-Wheeler transform

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675260

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675260

Infantile myofibromatosis: The most common fibrous tumor of infancy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675260

Infantile myofibromatosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675260

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675260

Platelet-derived growth factors and their receptors in normal and malignant hematopoiesis

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675260

dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675260

Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675260

Endocardial location of familial myofibromatosis revealed by cerebral embolization: cardiac counterpart of the frequent intravascular growth of the disease?

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675260

The Human Gene Mutation Database: 2008 update

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675260

Notch signaling regulates platelet-derived growth factor receptor-beta expression in vascular smooth muscle cells.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675260

Autosomal dominant inheritance of infantile myofibromatosis

4 September 2018

1 reference

12 December 2020

FIBROUS HAMARTOMA OF INFANCY

1 reference

12 December 2020

Infantile myofibromatosis: two families supporting autosomal dominant inheritance

1 reference

12 December 2020

CONGENITAL MESENCHYMAL TUMORS

1 reference

12 December 2020

Infantile myofibromatosis. Evidence for an autosomal-dominant disorder

1 reference

12 December 2020

Infantile myofibromatosis: report on a family with autosomal dominant inheritance and variable penetrance

1 reference

12 December 2020

Congenital fibrosarcoma; report of a case in a newborn infant

1 reference

12 December 2020

Self-healing generalized infantile myofibromatosis with elevated urinary bFGF

1 reference

12 December 2020

Congenital generalized fibromatosis: an autosomal recessive condition?

1 reference

12 December 2020

Infantile myofibromatosis

1 reference

12 December 2020

Infantile myofibromatosis: support for autosomal dominant inheritance

1 reference

12 December 2020

Four half-siblings with infantile myofibromatosis: a case for autosomal-recessive inheritance

1 reference

12 December 2020

[Congenital polyfibromatosis: clinical and genetic studies]

1 reference

12 December 2020

Juvenile fibromatoses

1 reference

12 December 2020

Remission of infantile generalized myofibromatosis after interferon alpha therapy

1 reference

12 December 2020

Multiple congenital neoplasms of soft tissues. Report of 4 cases in 1 family

1 reference

12 December 2020

10.1016/J.AJHG.2013.04.024

Identifiers

DOI

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

23731542

1 reference