scholarly journals THE CLINICAL POLYMORPHISM AND TREATMENT STRATEGY IN A LARGE FAMILY WITH BRUGADA SYNDROME

Author(s):  
S. Saber ◽  
A. F. Fazelifar ◽  
M. Haghjoo ◽  
Z. Emkanjoo ◽  
A. Alizadeh ◽  
...  
2015 ◽  
Vol 3 (1) ◽  
pp. e12256 ◽  
Author(s):  
Siamak Saber ◽  
Mohamed-Yassine Amarouch ◽  
Amir-Farjam Fazelifar ◽  
Majid Haghjoo ◽  
Zahra Emkanjoo ◽  
...  

Heart Rhythm ◽  
2006 ◽  
Vol 3 (3) ◽  
pp. 290-295 ◽  
Author(s):  
Maarten P. van den Berg ◽  
Jaap Haaksma ◽  
Nic J.G.M. Veeger ◽  
Arthur A.M. Wilde

2019 ◽  
Vol 20 (22) ◽  
pp. 5522 ◽  
Author(s):  
Michelle Monasky ◽  
Emanuele Micaglio ◽  
Daniela Giachino ◽  
Giuseppe Ciconte ◽  
Luigi Giannelli ◽  
...  

Brugada syndrome (BrS) is marked by coved ST-segment elevation and increased risk of sudden cardiac death. The genetics of this syndrome are elusive in over half of the cases. Variants in the SCN5A gene are the single most common known genetic unifier, accounting for about a third of cases. Research models, such as animal models and cell lines, are limited. In the present study, we report the novel NM_198056.2:c.1111C>T (p.Gln371*) heterozygous variant in the SCN5A gene, as well as its segregation with BrS in a large family. The results herein suggest a pathogenic effect of this variant. Functional studies are certainly warranted to characterize the molecular effects of this variant.


2001 ◽  
Vol 12 (6) ◽  
pp. 630-636 ◽  
Author(s):  
MAARTEN P. BERG ◽  
ARTHUR A.M. WILDE ◽  
JAN WILLEM VIERSMA ◽  
JAN BROUWER ◽  
JAAP HAAKSMA ◽  
...  

Author(s):  
Maryvonne Hervieu

Four years after the discovery of superconductivity at high temperature in the Ba-La-Cu-O system, more than thirty new compounds have been synthesized, which can be classified in six series of copper oxides: La2CuO4 - type oxides, bismuth cuprates, YBa2Cu3O7 family, thallium cuprates, lead cuprates and Nd2CuO4 - type oxides. Despite their quite different specific natures, close relationships allow their structures to be simply described through a single mechanism. The fifth first families can indeed be described as intergrowths of multiple oxygen deficient perovskite slabs with multiple rock salt-type slabs, according to the representation [ACuO3-x]m [AO]n.The n and m values are integer in the parent structures, n varying from 0 to 3 and m from 1 to 4; every member of this large family can thus be symbolized by [m,n]. The oxygen deficient character of the perovskite slabs involves the existence or the co-existence of several types of copper environment: octahedral, pyramidal and square planar.Both mechanisms, oxygen deficiency and intergrowth, are well known to give rise easily to nonstoichiometry phenomena. Numerous and various phenomena have actually been characterized in these cuprates, strongly depending on the thermal history of the samples.


2005 ◽  
Vol 173 (4S) ◽  
pp. 300-301
Author(s):  
Michaella E. Maloney ◽  
Pei Zhong ◽  
Charles G. Marguet ◽  
Yufeng F. Zhou ◽  
Jeffrey C. Sung ◽  
...  

2004 ◽  
Vol 171 (4S) ◽  
pp. 294-294
Author(s):  
Yufeng Zhou ◽  
Charles G. Marguet ◽  
Michaella E. Maloney ◽  
Franklin H. Cocks ◽  
Glenn M. Preminger ◽  
...  

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