Zobrazeno 1 - 10 of 29 pro vyhledávání: '"Ergun Cil"'
1
Akademický článek
'Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports'
Autor: Fahrettin Uysal, Burcu Turkgenc, Guven Toksoy, Ozlem M. Bostan, Elif Evke, Oya Uyguner, Cengiz Yakicier, Hulya Kayserili, Ergun Cil, Sehime G. Temel
Publikováno v: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-8 (2017)
Abstract Background Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozygous or compound heter
Externí odkaz: https://doaj.org/article/547b936f1a3f48028b40b8469462b7d9
Zobrazit plný text záznamu
2
Akademický článek
Isolated congenital cardiac diverticulum originating from the left ventricular apex: Report of a pediatric case
Autor: Fahrettin Uysal, Ozlem Mehtap Bostan, Muhammed Hamza Halil Toprak, Isik Senkaya Signak, Ergun Cil
Publikováno v: Annals of Pediatric Cardiology, Vol 9, Iss 2, Pp 195-196 (2016)
Congenital ventricular diverticulum is a rare cardiac anomaly defined as a localized protrusion of the ventricular free wall. Although, it is usually asymptomatic, complications such as embolism, infective endocarditis, and arrhythmias can occur. The
Externí odkaz: https://doaj.org/article/5fd951ccbb9c41aab8fa77cffb7fa538
Zobrazit plný text záznamu
3
Akademický článek
Turkish perspective of Jervell and Lange-Nielsen syndrome
Autor: Sehime G Temel, Ozlem M Bostan, Hakan Cangul, Ergun Cil
Publikováno v: Annals of Indian Academy of Neurology, Vol 16, Iss 1, Pp 129-130 (2013)
Externí odkaz: https://doaj.org/article/cf923f67e383468ebdd6afb9cdcd6274
Zobrazit plný text záznamu
4
'Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports'
Autor: Burcu Turkgenc, Güven Toksoy, Cengiz Yakicier, Oya Uyguner, Sehime Gulsun Temel, Elif Evke, Hülya Kayserili, Fahrettin Uysal, Ergun Cil, Özlem M. Bostan
Publikováno v: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-8 (2017)
BMC Medical Genetics
Background: Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozygous or compound heterozygous
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab7ed426b031af7c41aff9f40885bdd5
http://link.springer.com/article/10.1186/s12881-017-0474-8
Zobrazit plný text záznamu
5
Correction: Arterial tortuosity syndrome: 40 new families and literature review
Autor: Damien Bonnet, Paul Coucke, David R. Deyle, Mohammed Z. Haider, Fahrettin Uysal, Eudice E. Fontenot, Inge De Wandele, Margot A. Cousin, Waheed Al-Manea, Sehime Gulsun Temel, Massimiliano Rossi, Fabienne Giuliano, Sofie De Schepper, Joshua S. Hardin, Mazen Al-Essa, Ergun Cil, N Canham, Majed Dasouki, Harry C. Dietz, Juliette Albuisson, Pamela Moceri, Sophie Dupuis-Girod, Koenraad Devriendt, David Warner, Bart Loeys, Özlem M. Bostan, Andrea Taylor, Neus Baena, Elise Schaefer, Sheela Nampoothiri, Eric W. Klee, Karin Pichler, Elaine C. Davis, Andy Willaert, Odile Boute, Tiffany Busa, Björn Fischer-Zirnsak, Alper Gezdirici, Jamal Ghoumid, Manuel F. Landecho, Shehla Mohammed, Yuri A. Zarate, Maria Ramos-Arroyo, Tom R. Collins, Aude Beyens, Stanislas Lyonnet, Laura Muiño-Mosquera, Uwe Kornak, Marine Vanhomwegen, Helen Michael, Anna Rajeb, Mohammed Zain Seidahmed, Anne De Paepe, Deepthi De Silva, Bert Callewaert, Elisabeth Steichen-Gersdorf, Lut Van Laer, Annekatrien Boel, Anne Legrand, Xavier Jeunemaitre, Lionel Van Maldergem, Katrina Prescott, Mustafa A. Salih, Julie De Backer
Publikováno v: Genetics in Medicine
In the published version of this paper the author Neus Baena's name was incorrectly given as Neus Baena Diez. This has now been corrected in both the HTML and PDF versions of the paper.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dabb6bb8991e9be6fc030af1fe1474c3
Zobrazit plný text záznamu
6
Arterial tortuosity syndrome: 40 new families and literature review
Autor: Uwe Kornak, Fabienne Giuliano, Aude Beyens, Mustafa A. Salih, Massimiliano Rossi, Marine Vanhomwegen, Lut Van Laer, Fahrettin Uysal, Koenraad Devriendt, David R. Deyle, Mohammed Z. Haider, Elise Schaefer, Tom R. Collins, Annekatrien Boel, Mazen Al-Essa, Elaine C. Davis, Elisabeth Steichen-Gersdorf, Ergun Cil, Eudice E. Fontenot, Andy Willaert, Bart Loeys, Eric W. Klee, Björn Fischer-Zirnsak, Joshua S. Hardin, Sophie Dupuis-Girod, N Canham, Majed Dasouki, Harry C. Dietz, Laura Muiño-Mosquera, Yuri A. Zarate, Karin Pichler, Xavier Jeunemaitre, Neus Baena Diez, Maria Ramos-Arroyo, Damien Bonnet, Paul Coucke, Waheed Al-Manea, Anne De Paepe, Tiffany Busa, Anna Rajeb, Shehla Mohammed, Odile Boute, Sofie De Schepper, Mohammed Zain Seidahmed, Juliette Albuisson, Andrea Taylor, Deepthi De Silva, Inge De Wandele, Helen Michael, Margot A. Cousin, Sehime Gulsun Temel, Pamela Moceri, Julie De Backer, Lionel Van Maldergem, Stanislas Lyonnet, Özlem M. Bostan, Katrina Prescott, Bert Callewaert, Anne Legrand, David Warner, Sheela Nampoothiri, Alper Gezdirici, Jamal Ghoumid, Manuel F. Landecho
Publikováno v: Genetics in Medicine
Genetics in medicine
PurposeWe delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused by mutations in SLC2A10.MethodsWe
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43678bceae2d29bcdcd1efbb1ec1895a
Zobrazit plný text záznamu
7
Outcomes of Kawasaki Disease
Autor: Berfin Uysal, Ergun Cil, Serif Hamitoglu, Fahrettin Uysal, Özlem M. Bostan, Solmaz Celebi
Publikováno v: Clinical Pediatrics. 54:579-584
Objectives: Kawasaki disease (KD) is an acute systemic vasculitis of unknown etiology. Coronary artery lesions (CAL) develop in 15% to 20% of untreated cases. Our objective was to evaluate demographic, clinical, and laboratory features and short-inte
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ce8a81ce6fda2bce2649436336f6e35
https://doi.org/10.1177/0009922814561594
Zobrazit plný text záznamu
9
Evaluation of electrocardiographic parameters for early diagnosis of autonomic dysfunction in children and adolescents with type-1 diabetes mellitus
Autor: Evren Semizel, Halil Saglam, Fahrettin Uysal, Evren Özboyacı, Özlem M. Bostan, Ergun Cil
Publikováno v: Pediatrics International. 56:675-680
Background The aim of this study was to identify the sensitivity of electrocardiogram (ECG) in early diagnosis of cardiac autonomic function disorder in children with type 1 diabetes mellitus. Methods A total of 150 children and adolescents with type
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::de04c3db99cdb7da087e60b9e69c36f8
https://doi.org/10.1111/ped.12329
Zobrazit plný text záznamu
10
Jervell and Lange–Nielsen Syndrome: Homozygous Missense Mutation of KCNQ1 in a Turkish Family
Autor: Sehime Gulsun Temel, Ergun Cil, Özlem M. Bostan, Caroline N. S. Archer, Hakan Cangul
Publikováno v: Pediatric Cardiology. 34:2063-2067
Long QT syndrome is one of the most common cardiac ion channel diseases, but its morbidity and mortality rate can be lessened with an early diagnosis and proper treatment. This cardiac ventricular repolarization abnormality is characterized by a prol
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00c697fb88951155ab1bd4db3ccf152b
https://doi.org/10.1007/s00246-013-0634-3
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje