(Q52868262)

English

DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.

scientific article published on 21 April 2015

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Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/25824905

DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies. (English)

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/25824905

Adams-Oliver syndrome

1 reference

based on heuristic

inferred from title

Richard C Trembath

10

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/25824905

Laura Southgate

16

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/25824905

17

object named as

Martin Zenker

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/25824905

1

object named as

Maja Sukalo

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/25824905

14

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Stefan Mundlos

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/25824905

author name string

Felix Tilsen

2

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Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/25824905

Hülya Kayserili

3

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Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/25824905

Dietmar Müller

4

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Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/25824905

Beyhan Tüysüz

5

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/25824905

Deborah M Ruddy

6

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Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/25824905

Emma Wakeling

7

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/25824905

Karen Helene Ørstavik

8

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/25824905

Katie M Snape

9

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/25824905

Maryse De Smedt

11

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/25824905

Nathalie van der Aa

12

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/25824905

Martin Skalej

13

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/25824905

Wim Wuyts

15

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Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/25824905

publication date

21 April 2015

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Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/25824905

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/25824905

36

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Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/25824905

6

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Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/25824905

593-598

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/25824905

Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22795

21 January 2018

RBPJ mutations identified in two families affected by Adams-Oliver syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22795

21 January 2018

Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22795

21 January 2018

Dock6, a Dock-C subfamily guanine nucleotide exchanger, has the dual specificity for Rac1 and Cdc42 and regulates neurite outgrowth

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22795

21 January 2018

Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: a variant of the Adams-Oliver syndrome?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22795

21 January 2018

Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22795

21 January 2018

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22795

21 January 2018

Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22795

21 January 2018

The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22795

21 January 2018

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22795

21 January 2018

Mutations in NOTCH1 cause Adams-Oliver syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22795

21 January 2018

The human orthologue of CdGAP is a phosphoprotein and a GTPase-activating protein for Cdc42 and Rac1 but not RhoA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22795

21 January 2018

Abnormal neuronal migration defect in the severe variant subtype of Adams–Oliver syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22795

21 January 2018

Isolated terminal limb reduction defects: Extending the clinical spectrum of Adams-Oliver syndrome andARHGAP31mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22795

7 January 2021

based on heuristic

inferred from DOI database lookup

Vascular abnormalities in Adams-Oliver syndrome: Cause or effect?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22795

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.22795

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/25824905

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/25824905

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