(Q30401429)

11 August 2017

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. (English)

1 reference

multiple pterygium syndrome

11 August 2017

1 reference

1 reference

Jessica X Chong

1

0 references

Susan A. Berry

object named as

Susan A Berry

12

0 references

Jay Shendure

17

object named as

Jay Shendure

1 reference

University of Washington Center for Mendelian Genomics

11 August 2017

19

object named as

University of Washington Center for Mendelian Genomics

1 reference

11 August 2017

18

Deborah A Nickerson

1 reference

11 August 2017

9

Carlos A Bacino

1 reference

11 August 2017

20

Michael J Bamshad

1 reference

11 August 2017

14

Richard A Gibbs

1 reference

11 August 2017

8

Kati J Buckingham

1 reference

11 August 2017

3

Anita E Beck

1 reference

11 August 2017

16

Deborah Krakow

1 reference

11 August 2017

2

Lindsay C Burrage

1 reference

11 August 2017

4

Colby T Marvin

1 reference

11 August 2017

10

Mahim Jain

1 reference

11 August 2017

11

Yasemin Alanay

1 reference

11 August 2017

Margaret J McMillin

5

1 reference

11 August 2017

Kathryn M Shively

6

1 reference

11 August 2017

Tanya M Harrell

7

1 reference

11 August 2017

John C Carey

13

1 reference

11 August 2017

Brendan H Lee

15

1 reference

11 August 2017

language of work or name

English

0 references

publication date

1 May 2015

1 reference

American Journal of Human Genetics

11 August 2017

1 reference

11 August 2017

96

1 reference

11 August 2017

5

1 reference

11 August 2017

841-849

1 reference

The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570285

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570285

A gain-of-function mutation in Tnni2 impeded bone development through increasing Hif3a expression in DA2B mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570285

A general framework for estimating the relative pathogenicity of human genetic variants

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570285

Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570285

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570285

Myosinopathies: pathology and mechanisms

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570285

Copy number variation detection and genotyping from exome sequence data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570285

Feeding blueberry diets in early life prevent senescence of osteoblasts and bone loss in ovariectomized adult female rats

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570285

Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570285

Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570285

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570285

Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570285

Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570285

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570285

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570285

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570285

Clinical characteristics and natural history of Freeman-Sheldon syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570285

Acetylcholine receptor channel subtype directs the innervation pattern of skeletal muscle

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570285

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570285

Spontaneous muscle action potentials fail to develop without fetal-type acetylcholine receptors.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570285

A revised and extended classification of the distal arthrogryposes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570285

An autosomal dominant multiple pterygium syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570285

Neuromotor synapses in Escobar syndrome.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570285

CHRNGgenotype–phenotype correlations in the multiple pterygium syndromes

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570285

Germline mutation in DOK7 associated with fetal akinesia deformation sequence

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4570285

Familial occurrence of multiple pterygium syndrome: expression in a heterozygote of the recessive form or variability of the dominant form?

26 November 2018

1 reference

12 December 2020

Genotype-phenotype relationships in Freeman-Sheldon syndrome

1 reference

12 December 2020

Spectrum of mutations that cause distal arthrogryposis types 1 and 2B

1 reference

12 December 2020

An unusual distal arthrogryposis

1 reference

12 December 2020

10.1016/J.AJHG.2015.04.004

Identifiers

DOI

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

25957469

1 reference