(Q30426893)

25 September 2017

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. (English)

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25 September 2017

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3

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25 September 2017

12

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25 September 2017

43

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25 September 2017

20

Judith G Hall

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25 September 2017

Stephen P Robertson

29

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Sarosh R Irani

Sarosh Irani

24

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Pierre Bitoun

Pierre Bitoun

University of Washington Center for Mendelian Genomics

9

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45

University of Washington Center for Mendelian Genomics

1 reference

25 September 2017

44

Deborah A Nickerson

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25 September 2017

46

Michael J Bamshad

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25 September 2017

5

Kati J Buckingham

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25 September 2017

Heidi I S Gildersleeve

6

Heidi I S Gildersleeve

1 reference

25 September 2017

2

Anita E Beck

1 reference

25 September 2017

41

Holly K Tabor

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Maria Luisa Giovannucci Uzielli

25 September 2017

18

Maria Luisa Giovannucci Uzielli

1 reference

25 September 2017

21

Jacqueline T Hecht

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25 September 2017

Margaret J McMillin

1

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25 September 2017

Kathryn M Shively

4

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25 September 2017

Mariana I Aracena

7

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25 September 2017

Arthur S Aylsworth

8

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25 September 2017

John C Carey

10

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25 September 2017

Carol L Clericuzio

11

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25 September 2017

Cynthia J Curry

13

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25 September 2017

Koenraad Devriendt

14

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25 September 2017

David B Everman

15

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25 September 2017

Alan Fryer

16

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25 September 2017

Kate Gibson

17

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25 September 2017

John M Graham

19

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25 September 2017

Randall A Heidenreich

22

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25 September 2017

Jane A Hurst

23

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25 September 2017

Ingrid P C Krapels

25

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25 September 2017

Jules G Leroy

26

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25 September 2017

David Mowat

27

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25 September 2017

Gordon T Plant

28

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25 September 2017

Elizabeth K Schorry

30

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25 September 2017

Richard H Scott

31

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25 September 2017

Laurie H Seaver

32

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25 September 2017

Elliott Sherr

33

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25 September 2017

Miranda Splitt

34

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25 September 2017

Helen Stewart

35

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25 September 2017

Constance Stumpel

36

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25 September 2017

Sehime G Temel

37

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25 September 2017

David D Weaver

38

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25 September 2017

Margo Whiteford

39

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25 September 2017

Marc S Williams

40

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25 September 2017

Joshua D Smith

42

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25 September 2017

language of work or name

English

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publication date

10 April 2014

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American Journal of Human Genetics

25 September 2017

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25 September 2017

94

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25 September 2017

5

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25 September 2017

734-744

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The mechanical control of nervous system development

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067551

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067551

Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067551

Mutations in ECEL1 cause distal arthrogryposis type 5D

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067551

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum 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=4067551

An integrated map of genetic variation from 1,092 human genomes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067551

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=4067551

Fast and accurate short read alignment with Burrows-Wheeler transform

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067551

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=4067551

Marden-Walker syndrome versus isolated distal arthrogryposis: evidence that both conditions may be variable manifestations of the same mutated gene.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067551

Extending the spectrum of distal arthrogryposis.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067551

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=4067551

Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067551

Marden-Walker syndrome: a case report and a critical review of the literature

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067551

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067551

The distal arthrogryposes: delineation of new entities--review and nosologic discussion

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067551

Camptodactyly, cleft palate, and club foot. A syndrome showing the autosomal-dominant pattern of inheritance

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067551

Camptodactyly, cleft palate, and club foot (the Gordon syndrome). A report of a large pedigree

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067551

[Feeling the pressure? Identification of two proteins activated by mechanical forces].

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067551

Pulmonary disease is a component of distal arthrogryposis type 5

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067551

Occurrence of Dandy-Walker anomaly in a familial case of distal arthogryposis type IIB.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067551

Arthrogryposis multiplex congenita, craniofacial, and ophthalmological abnormalities and normal intelligence: a new syndrome?

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067551

A new form of autosomal dominant arthrogryposis

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067551

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

26 November 2018

1 reference

12 December 2020

A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndrome

1 reference

12 December 2020

Distal arthrogryposis type IIB: unreported ophthalmic findings

1 reference

12 December 2020

The Gordon syndrome: autosomal dominant cleft palate, camptodactyly, and club feet

1 reference

12 December 2020

The Aase-Smith syndrome

1 reference

12 December 2020

Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome

1 reference

12 December 2020

Distal arthrogryposis type IIB: further clinical delineation and 54-year follow-up of an index case

1 reference

12 December 2020

10.1016/J.AJHG.2014.03.015

Identifiers

DOI

1 reference

release_d6agf7xlljgcneua7trtwrtfku

25 September 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/d6agf7xlljgcneua7trtwrtfku

24 November 2022

mapped directly with Wikidata item

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25 September 2017

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