(Q37186918)

18 August 2017

20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits (English)

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Wolff–Parkinson–White syndrome

18 August 2017

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30

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18 August 2017

7

C Shaw

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18 August 2017

S R Lalani

1

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18 August 2017

J V Thakuria

2

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18 August 2017

G F Cox

3

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18 August 2017

X Wang

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18 August 2017

W Bi

5

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18 August 2017

M S Bray

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18 August 2017

S W Cheung

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18 August 2017

A C Chinault

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18 August 2017

B A Boggs

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18 August 2017

Z Ou

11

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18 August 2017

E K Brundage

12

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18 August 2017

J R Lupski

13

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18 August 2017

J Gentile

14

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18 August 2017

S Waisbren

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18 August 2017

A Pursley

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18 August 2017

L Ma

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18 August 2017

M Khajavi

18

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18 August 2017

G Zapata

19

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18 August 2017

R Friedman

20

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18 August 2017

J J Kim

21

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18 August 2017

J A Towbin

22

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18 August 2017

P Stankiewicz

23

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18 August 2017

S Schnittger

24

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18 August 2017

I Hansmann

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18 August 2017

T Ai

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18 August 2017

S Sood

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18 August 2017

X H Wehrens

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18 August 2017

J F Martin

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18 August 2017

L Potocki

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18 August 2017

language of work or name

English

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publication date

23 September 2008

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Journal of Medical Genetics

18 August 2017

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18 August 2017

46

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18 August 2017

3

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18 August 2017

168-175

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Intracellular calcium leak due to FKBP12.6 deficiency in mice facilitates the inducibility of atrial fibrillation.

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680125

Genomic rearrangements and sporadic disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680125

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680125

Whole genome genotyping technologies on the BeadArray platform

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680125

Bmp2 is essential for cardiac cushion epithelial-mesenchymal transition and myocardial patterning

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680125

Alk3/Bmpr1a receptor is required for development of the atrioventricular canal into valves and annulus fibrosus

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680125

Increased vulnerability to atrial fibrillation in transgenic mice with selective atrial fibrosis caused by overexpression of TGF-beta1.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680125

Identification of a gene responsible for familial Wolff-Parkinson-White syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680125

Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680125

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680125

High incidence of pre-excitation syndrome in Japanese families with Leber's hereditary optic neuropathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680125

Mice deficient for BMP2 are nonviable and have defects in amnion/chorion and cardiac development

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680125

Characterization and cloning of a receptor for BMP-2 and BMP-4 from NIH 3T3 cells.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680125

The Wolff-Parkinson-White syndrome: the cellular substrate for conduction in the accessory atrioventricular pathway

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680125

Alagille syndrome and deletion of 20p.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680125

Fluorescence in situ hybridization: applications in cytogenetics and gene mapping

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680125

6 September 2017

Alagille syndrome today

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680125

The wolff‐parkinson‐white syndrome and its anatomical substrates

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680125

Familial occurrence of accessory atrioventricular pathways (preexcitation syndrome).

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680125

Deletion of 20p 11.23----pter with normal growth hormone-releasing hormone genes.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680125

Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680125

High-resolution comparative genomic hybridisation yields a high detection rate of chromosomal aberrations in childhood acute lymphoblastic leukaemia.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680125

Specificity of TGFbeta signaling is conferred by distinct type I receptors and their associated SMAD proteins in Caenorhabditis elegans

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680125

Wolff-Parkinson-White syndrome and supraventricular tachycardia during infancy: management and follow-up

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680125

3 September 2018

1 reference

12 December 2020

Familial Wolff-Parkinson-White syndrome

1 reference

12 December 2020

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

12 December 2020

Analysis of the electrocardiograms obtained from 1000 young healthy aviators; ten year follow-up

1 reference

12 December 2020

Ventriculo-right atrial communication; diagnosis by clinical, hemodynamic and angiographic methods

1 reference

12 December 2020

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2008.061002

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

18812404

1 reference