(Q46542112)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18551308%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

title

Heterozygous nonsense SCN5A mutation W822X explains a simultaneous sudden infant death syndrome (English)

1 reference

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8 January 2020

1 reference

3

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8 January 2020

Margherita Neri

5

1 reference

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8 January 2020

Cristoforo Pomara

6

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8 January 2020

Vittorio Fineschi

9

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8 January 2020

8

Steven B Karch

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author name string

Emanuela Turillazzi

1

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8 January 2020

Giampiero La Rocca

2

1 reference

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8 January 2020

Simona Corrao

4

1 reference

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8 January 2020

Irene Riezzo

7

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8 January 2020

publication date

13 June 2008

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8 January 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18551308%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

volume

453

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8 January 2020

issue

2

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8 January 2020

page(s)

209-216

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https://scigraph.springernature.com/pub.10.1007/s00428-008-0632-7

8 January 2020

exact match

0 references

cites work

Near-miss SIDS due to Brugada syndrome

1 reference

12 December 2020

Enhanced DNA extraction and PCR amplification of mitochondrial genes from formalin-fixed museum specimens.

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12 December 2020

PCR analysis of tissue samples from the 1979 Sverdlovsk anthrax victims: the presence of multiple Bacillus anthracis strains in different victims

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12 December 2020

Annual summary of vital statistics--1996.

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12 December 2020

Cardiac sodium channel dysfunction in sudden infant death syndrome.

1 reference

12 December 2020

The San Diego definition of SIDS: practical application and comparison with the GeSID classification

1 reference

12 December 2020

Sudden infant death syndrome: how significant are the cardiac channelopathies?

1 reference

12 December 2020

Estimated rates of concordancy for the Sudden Infant Death Syndrome in twins

1 reference

12 December 2020

Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome.

1 reference

12 December 2020

Prevalence of long-QT syndrome gene variants in sudden infant death syndrome

1 reference

12 December 2020

A novel nonsense mutation in the SCN5A gene leads to Brugada syndrome and a silent gene mutation carrier state

1 reference

12 December 2020

Maternal smoking and sudden infant death syndrome: epidemiological study related to pathology

1 reference

12 December 2020

The changing concept of sudden infant death syndrome: diagnostic coding shifts, controversies regarding the sleeping environment, and new variables to consider in reducing risk

1 reference

12 December 2020

Simultaneous sudden infant death syndrome: a proposed definition and worldwide review of cases

1 reference

12 December 2020

Genomic organization of the human SCN5A gene encoding the cardiac sodium channel

1 reference

12 December 2020

Brugada syndrome and sudden cardiac death in children

1 reference

12 December 2020

Guidelines for neuropathologic diagnostics of perinatal unexpected loss and sudden infant death syndrome (SIDS): a technical protocol

1 reference

12 December 2020

Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome

1 reference

12 December 2020

Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death

1 reference

12 December 2020

De novo mutation in the SCN5A gene associated with early onset of sudden infant death

1 reference

12 December 2020

The implications of genetic mutations in the sodium channel gene (SCN5A).

1 reference

12 December 2020

Prolongation of the QT interval and the sudden infant death syndrome.

1 reference

12 December 2020

Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients

1 reference

12 December 2020

Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms

1 reference

12 December 2020

Simultaneous death of twins. An environmental hazard or SIDS?

1 reference

12 December 2020

Real-time PCR analysis of DNA and RNA extracted from formalin-fixed and paraffin-embedded biopsies

1 reference

12 December 2020

Comparison of methods for DNA extraction from paraffin-embedded tissues and buccal cells

1 reference

12 December 2020

Prolongation of the QT interval and the sudden infant death syndrome

1 reference

12 December 2020

Molecular diagnosis in a child with sudden infant death syndrome

1 reference

12 December 2020

Sudden Infant Death Syndrome: review of implicated genetic factors

1 reference

12 December 2020

SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome

1 reference

12 December 2020

Distinct subcellular localization of different sodium channel alpha and beta subunits in single ventricular myocytes from mouse heart

1 reference

12 December 2020

A molecular link between the sudden infant death syndrome and the long-QT syndrome

1 reference

12 December 2020

Simultaneous sudden infant death syndrome

1 reference

12 December 2020

Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome

1 reference

12 December 2020

Simultaneous sudden infant death syndrome: a case report

1 reference

12 December 2020

10.1007/S00428-008-0632-7

Identifiers

DOI

1 reference

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8 January 2020

1 reference