Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Malena P, Pantou"'
Autor:
Malena P. Pantou, Polyxeni Gourzi, Vasiliki Vlagkouli, Efstathios Papatheodorou, Alexandros Tsoutsinos, Eva Nyktari, Dimitrios Degiannis, Aris Anastasakis
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-8 (2023)
Abstract Background Homozygous truncating mutations located in the C-terminal region of the desmoplakin gene (DSP) are known to mainly cause Carvajal syndrome, an autosomal recessive syndromic form of arrhythmogenic cardiomyopathy with an extra-cardi
Externí odkaz:
https://doaj.org/article/76661f026ca443fca90eea23dffe3158
Autor:
Malena P. Pantou, Polyxeni Gourzi, Aggeliki Gkouziouta, Iakovos Armenis, Loukas Kaklamanis, Christianna Zygouri, Pantelis Constantoulakis, Stamatis Adamopoulos, Dimitrios Degiannis
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)
Abstract Background Restrictive cardiomyopathy is a rare cardiac disease, for which several genes including TNNT2, MYPN, FLNC and TNNI3 have been associated with its familial form. Case presentation Here we describe a female proband with a severely m
Externí odkaz:
https://doaj.org/article/39c8de68ff0e4a3796f94c8498504daf
Autor:
Loukas Kaklamanis, Pantelis Constantoulakis, Polyxeni Gourzi, Aggeliki Gkouziouta, Malena P. Pantou, Iakovos Armenis, Christianna Zygouri, Dimitrios Degiannis, Stamatis Adamopoulos
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)
BMC Medical Genetics
BMC Medical Genetics
Background Restrictive cardiomyopathy is a rare cardiac disease, for which several genes including TNNT2, MYPN, FLNC and TNNI3 have been associated with its familial form. Case presentation Here we describe a female proband with a severely manifested
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78dbd1112507104fdfaea6baeee6ad75
http://link.springer.com/article/10.1186/s12881-019-0793-z
http://link.springer.com/article/10.1186/s12881-019-0793-z
Autor:
Angeliki Gkouziouta, Polyxeni Gourzi, Loukas Kaklamanis, Dimitrios Degiannis, Malena P. Pantou, Christianna Zygouri, Stamatis Adamopoulos, Pantelis Constantoulakis, Dimitrios Tsiapras
Publikováno v:
European Journal of Medical Genetics. 62:77-80
Danon disease is a rare X-linked cardiac and skeletal muscle disorder with multisystem clinical manifestations. Genetic defects at the lysosome-associated membrane 2 protein (LAMP2) are the cause of the disorder. Due to the rarity of the disease, the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::649925725223078f3ccccaa7ce2007d4
https://doi.org/10.1016/j.ejmg.2018.05.015
https://doi.org/10.1016/j.ejmg.2018.05.015
Autor:
Polyxeni Gourzi, Konstantinos P. Letsas, Dimitrios Degiannis, George Bazoukis, Panagiotis Mililis, Ioannis Liatakis, Konstantinos Vlachos, Efstathia Prappa, Athanasios Saplaouras, Michael Efremidis, Malena P. Pantou
Publikováno v:
Journal of electrocardiology. 65
KCNE2 gene mutations have been associated with atrial fibrillation, long QT syndrome, Brugada syndrome and unexplained sudden cardiac death. Herein, we describe a case of Brugada syndrome carrying an heterozygous variant in the KCNE2 gene [NM_172201.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::558712d1f4feb016c7a212295c7a2421
https://pubmed.ncbi.nlm.nih.gov/33626434
https://pubmed.ncbi.nlm.nih.gov/33626434
Autor:
Polyxeni Gourzi, Louiza Lioni, Antonios Sideris, Konstantinos P. Letsas, Dimitrios Degiannis, Efstathia Prappa, Malena P. Pantou, George Bazoukis
Publikováno v:
Journal of electrocardiology. 60
Catecholaminergic polymorphic ventricular tachycardia (CPVT) and Long-QT syndrome (LQTS) are two distinct entities with similar clinical presentation and management but different clinical course. In this study, we present two family members presented
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbc2a118e9120883e77270c43228b7b9
https://pubmed.ncbi.nlm.nih.gov/32179276
https://pubmed.ncbi.nlm.nih.gov/32179276
Autor:
Dimitrios Degiannis, Pantelis Constantoulakis, Dimitrios Tsiapras, Polyxeni Gourzi, Aggeliki Gkouziouta, Stamatis Adamopoulos, Malena P. Pantou, Christianna Zygouri
Publikováno v:
Cardiology. 141:150-155
Objective: We present the genotypic and phenotypic characterization of a family displaying dilated cardiomyopathy (DCM). Methods: The proband and his relatives underwent full cardiological assessment. Genetic analysis of the proband was performed wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1370fc96ab69148092912115ae39830b
https://doi.org/10.1159/000494453
https://doi.org/10.1159/000494453
Publikováno v:
Eur J Hum Genet
European Journal of Human Genetics
European Journal of Human Genetics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1284a416dcdf9983c4006c059e38f954
https://europepmc.org/articles/PMC6777621/
https://europepmc.org/articles/PMC6777621/
Autor:
Antonios Gklavas, Gerassimos J. Mantzaris, Ioannis Papaconstantinou, Malena P. Pantou, Margarita Karageorgou, Polyxeni Gourzi, Panagiotis-Theofanis Arkoumanis
Publikováno v:
Medical Archives
Introduction Holt-Oram syndrome (HOS) is an uncommon autosomal dominant disorder defined by congenital cardiac defects, some anatomical deformities in the upper limb and conduction abnormalities. Sequence alteration of TBX5 gene located on chromosome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43633c922d60d5927b31c6da04f5cfdb
https://pubmed.ncbi.nlm.nih.gov/30514998
https://pubmed.ncbi.nlm.nih.gov/30514998
Autor:
Malena P, Pantou, Polyxeni, Gourzi, Aggeliki, Gkouziouta, Dimitrios, Tsiapras, Christianna, Zygouri, Pantelis, Constantoulakis, Stamatis, Adamopoulos, Dimitrios, Degiannis
Publikováno v:
Cardiology. 141(3)
We present the genotypic and phenotypic characterization of a family displaying dilated cardiomyopathy (DCM).The proband and his relatives underwent full cardiological assessment. Genetic analysis of the proband was performed with the use of next-gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7764b0f016e7c770aca062e59a157a64
https://pubmed.ncbi.nlm.nih.gov/30557877
https://pubmed.ncbi.nlm.nih.gov/30557877