Lack of genotype-phenotype correlation in Brugada Syndrome and Sudden Arrhythmic Death Syndrome families with reported pathogenic SCN1B variants

Gray Belinda; Hasdemir Can; Ingles Jodie; Aiba Takeshi; Makita Naomasa; Probst Vincent; Wilde Arthur A. M.; Newbury-Ecob Ruth; Sheppard Mary N.; Semsarian Christopher; Sy Raymond W.; Behr Elijah R.

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Lack of genotype-phenotype correlation in Brugada Syndrome and Sudden Arrhythmic Death Syndrome families with reported pathogenic SCN1B variants

机译：缺乏巴鲁达综合征和突出的心律失常死亡综合征家族的基因型表型相关性致病性SCN1B变种

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BACKGROUND There is limited evidence that Brugada Syndrome (BrS) is due to SCN1B variants (BrS5). This gene may be inappropriately included in routine genetic testing panels for BrS or Sudden Arrhythmic Death Syndrome (SADS).

机译：背景技术证据证明巴鲁达综合征（BRS）是由于SCN1B变体（BRS5）。该基因可能是不恰当的包含在常规遗传检测面板中，用于BRS或突发的心律失常死亡综合征（悲伤）。

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《Heart rhythm: the official journal of the Heart Rhythm Society》 |2018年第7期|共7页
作者
Gray Belinda; Hasdemir Can; Ingles Jodie; Aiba Takeshi; Makita Naomasa; Probst Vincent; Wilde Arthur A. M.; Newbury-Ecob Ruth; Sheppard Mary N.; Semsarian Christopher; Sy Raymond W.; Behr Elijah R.;
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作者单位

Royal Prince Alfred Hosp Dept Cardiol Sydney NSW Australia;

Ege Univ Sch Med Dept Cardiol Izmir Turkey;

Royal Prince Alfred Hosp Dept Cardiol Sydney NSW Australia;

Natl Cerebral &

Cardiovasc Ctr Osaka Japan;

Nagasaki Univ Nagasaki Japan;

Univ Nantes Dept Cardiol Inst Thorax Nantes France;

Acad Med Ctr Amsterdam Netherlands;

Univ Hosp Bristol NHS Trust Dept Clin Genet Bristol Avon England;

St Georges Univ London London England;

Royal Prince Alfred Hosp Dept Cardiol Sydney NSW Australia;

Royal Prince Alfred Hosp Dept Cardiol Sydney NSW Australia;

St Georges Univ London London England;

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原文格式 PDF
正文语种 eng
中图分类心脏、血管（循环系）疾病;
关键词
Brugada Syndrome; Genotype-phenotype correlation; Reclassification; SADS; SCN1B; Sudden cardiac death;

机译：Brugada综合征;基因型 - 表型相关;重新分类;悲伤;SCN1B;突然的心脏死亡;

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1. Lack of genotype-phenotype correlation in Brugada Syndrome and Sudden Arrhythmic Death Syndrome families with reported pathogenic SCN1B variants [J] . Gray Belinda, Hasdemir Can, Ingles Jodie, Heart rhythm: the official journal of the Heart Rhythm Society . 2018,第7期

机译：缺乏巴鲁达综合征和突出的心律失常死亡综合征家族的基因型表型相关性致病性SCN1B变种
2. Response by Wilde and Gollob to Letter Regarding Article, “Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome” [J] . Arthur A.M. Wilde, Michael H. Gollob Circulation: An Official Journal of the American Heart Association . 2019,第14期

机译：Wilde和Gollob对文章的回应，“突然心律失常死亡的报告基因的重新评估：基于证据对Brugada综合征的基因有效性”
3. Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome [J] . Hosseini S. Mohsen, Kim Raymond, Udupa Sharmila, Circulation: An Official Journal of the American Heart Association . 2018,第12期

机译：突然心律失常死亡的报告基因的重新评估：基于证据对Brugada综合征的基因有效性的评价
4. Asymptomatic Patients with Brugada Syndrome: Does the Risk of Sudden Death Justify ICD Implantation? [C] . S. Favale F. Nacci International Workshop on Cardiac Arrhythmias . 2002

机译：无症状患者患有Brugada综合征：猝死的风险是否合理地证明ICD植入呢？
5. Identification and characterization of pathogenicity genes in Fusarium virguliforme, the causal agent of sudden death syndrome (SDS) in soybean. [D] . Mansouri, Saara. 2012

机译：大豆枯萎病病原体（Fusarium virguliforme）的致病性基因的鉴定和表征。
6. Functional implications of a rare variant in the sodium channel β1B subunit (SCN1B) in a 5-month-old male sudden infant death syndrome case [O] . Jacqueline Neubauer, Jean-Sébastien Rougier, Hugues Abriel, 2018

机译：在一个5个月大的男性婴儿猝死综合症病例中钠通道β1B亚基（SCN1B）中一种罕见变体的功能含义
7. Lack of genotype-phenotype correlation in Brugada Syndrome and Sudden Arrhythmic Death Syndrome families with reported pathogenic SCN1B variants [O] . Belinda Gray, Can Hasdemir, Jodie Ingles, 2018

机译：缺乏巴鲁达综合征和突出的心律失常死亡综合征家族的基因型 - 表型患者报告致病SCN1B变体
8. Guidelines for Death Scene Investigation of Sudden, Unexplained Infant Deaths:211 Recommendations of the Interagency Panel on Sudden Infant Death Syndrome. 211 Morbidity and Mortality Weekly Report, Vol. 45, No. RR-10, June 21, 1996 [R] . Iyasu, S., Rowley, D. L., Hanzlick, R. L., 1996

机译：关于突发，原因不明的婴儿死亡的死亡现场调查指南：211关于突发婴儿死亡综合症的机构间小组的建议。 211发病率和死亡率周报，第一卷。 45，第RR-10号，1996年6月21日

Lack of genotype-phenotype correlation in Brugada Syndrome and Sudden Arrhythmic Death Syndrome families with reported pathogenic SCN1B variants

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