(Q33910305)

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Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).

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Europe PubMed Central

30 July 2017

Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). (English)

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Europe PubMed Central

30 July 2017

arrhythmogenic right ventricular cardiomyopathy

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author name string

G McKoy

1

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Europe PubMed Central

30 July 2017

N Protonotarios

2

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Europe PubMed Central

30 July 2017

A Crosby

3

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Europe PubMed Central

30 July 2017

A Tsatsopoulou

4

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Europe PubMed Central

30 July 2017

A Anastasakis

5

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Europe PubMed Central

30 July 2017

A Coonar

6

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Europe PubMed Central

30 July 2017

M Norman

7

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Europe PubMed Central

30 July 2017

C Baboonian

8

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Europe PubMed Central

30 July 2017

S Jeffery

9

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Europe PubMed Central

30 July 2017

W J McKenna

10

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Europe PubMed Central

30 July 2017

language of work or name

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publication date

1 June 2000

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30 July 2017

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Europe PubMed Central

30 July 2017

355

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30 July 2017

2119-2124

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30 July 2017

9221

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30 July 2017

Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International S

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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2902379-5

7 January 2021

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The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24

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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2902379-5

7 January 2021

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A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43

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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2902379-5

7 January 2021

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A new locus for arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14.

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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2902379-5

7 January 2021

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ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm

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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2902379-5

7 January 2021

based on heuristic

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Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23.

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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2902379-5

7 January 2021

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Cardiac abnormalities in familial palmoplantar keratosis

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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2902379-5

7 January 2021

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Arrhythmogenic right ventricular cardiomyopathies: clinical forms and main differential diagnoses

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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2902379-5

7 January 2021

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Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2902379-5

7 January 2021

based on heuristic

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The human plakoglobin gene localizes on chromosome 17q21 and is subjected to loss of heterozygosity in breast and ovarian cancers

1 reference

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7 January 2021

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The armadillo family of structural proteins.

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7 January 2021

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Targeted mutation of plakoglobin in mice reveals essential functions of desmosomes in the embryonic heart

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7 January 2021

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Embryonic heart and skin defects in mice lacking plakoglobin

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https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2902379-5

7 January 2021

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

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7 January 2021

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Interkeratinocyte adherens junctions: immunocytochemical visualization of cell-cell junctional structures, distinct from desmosomes, in human epidermis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2902379-5

7 January 2021

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Novel KCNQ1 and HERG missense mutations in Dutch long-QT families

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2902379-5

7 January 2021

based on heuristic

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Biochemical characterization of the soluble form of the junctional plaque protein, plakoglobin, from different cell types

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2902379-5

7 January 2021

based on heuristic

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Histological diagnosis of right ventricular dysplasia: a role for electron microscopy?

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2902379-5

7 January 2021

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Right ventricular dysplasia: an ultrastructural study

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2902379-5

7 January 2021

based on heuristic

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Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2902379-5

7 January 2021

based on heuristic

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Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2902379-5

7 January 2021

based on heuristic

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Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2902379-5

7 January 2021

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Identifiers

10.1016/S0140-6736(00)02379-5

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Europe PubMed Central

30 July 2017

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Europe PubMed Central

30 July 2017

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