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Wyświetlanie 1-20 z 258
Tytuł:
Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants.
Autorzy:
Rinné S; Institute of Physiology and Pathophysiology, Vegetative Physiology, University of Marburg, 35037 Marburg, Germany.
Oertli A; Institute of Physiology and Pathophysiology, Vegetative Physiology, University of Marburg, 35037 Marburg, Germany.
Nagel C; Institute of Biomedical Engineering, Karlsruhe Institute of Technology (KIT), 76131 Karlsruhe, Germany.
Tomsits P; Department of Medicine I, University Hospital, LMU Munich, 80802 Munich, Germany.; Deutsches Zentrum für Herz-Kreislauferkrankungen (DZHK), Partner Site Munich, 80636 Munich, Germany.; Member of the European Reference Network for Rare, Low Prevalance and Complex Diseases of the Heart (ERN GUARD-Heart), 81377 Munich, Germany.; Institute of Surgical Research at the Walter-Brendel-Centre of Experimental Medicine, University Hospital, LMU Munich, Marchioninistrasse 27, 81377 Munich, Germany.
Jenewein T; Institute of Legal Medicine, Goethe University, University Hospital Frankfurt, 60590 Frankfurt, Germany.; Institute for Transfusion Medicine and Immunohematology, German Red Cross Blood Service Baden-Württemberg-Hessen, Goethe University Frankfurt, 60528 Frankfurt, Germany.
Kääb S; Department of Medicine I, University Hospital, LMU Munich, 80802 Munich, Germany.; Deutsches Zentrum für Herz-Kreislauferkrankungen (DZHK), Partner Site Munich, 80636 Munich, Germany.; Member of the European Reference Network for Rare, Low Prevalance and Complex Diseases of the Heart (ERN GUARD-Heart), 81377 Munich, Germany.
Kauferstein S; Institute of Legal Medicine, Goethe University, University Hospital Frankfurt, 60590 Frankfurt, Germany.; Deutsches Zentrum für Herz-Kreislauferkrankungen (DZHK), Partner Site Frankfurt, 60596 Frankfurt, Germany.
Loewe A; Institute of Biomedical Engineering, Karlsruhe Institute of Technology (KIT), 76131 Karlsruhe, Germany.
Beckmann BM; Department of Medicine I, University Hospital, LMU Munich, 80802 Munich, Germany.; Institute of Legal Medicine, Goethe University, University Hospital Frankfurt, 60590 Frankfurt, Germany.
Decher N; Institute of Physiology and Pathophysiology, Vegetative Physiology, University of Marburg, 35037 Marburg, Germany.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Jan 10; Vol. 24 (2). Date of Electronic Publication: 2023 Jan 10.
Typ publikacji:
Journal Article
MeSH Terms:
Romano-Ward Syndrome*/genetics
Jervell-Lange Nielsen Syndrome*/genetics
Humans ; KCNQ1 Potassium Channel/genetics ; Phenotype ; Electrocardiography ; Mutation ; KCNQ Potassium Channels/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Outcomes of Cochlear Implantation in Patients with Jervell and Lange-Nielsen Syndrome: A Systematic Review and Narrative Synthesis.
Autorzy:
Metcalfe C; University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital Birmingham, Bigmingham, UK.
Muzaffar J; University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital Birmingham, Bigmingham, UK.
Monksfield P; University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital Birmingham, Bigmingham, UK.
Bance M; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
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Źródło:
The journal of international advanced otology [J Int Adv Otol] 2020 Dec; Vol. 16 (3), pp. 456-462.
Typ publikacji:
Journal Article; Systematic Review
MeSH Terms:
Cochlear Implantation*
Jervell-Lange Nielsen Syndrome*/surgery
Hearing ; Humans ; Prospective Studies ; Retrospective Studies
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population.
Autorzy:
Sieliwonczyk E; Center of Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium. .; Medical Genetics (MEDGEN), GENCOR, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium. .
Alaerts M; Center of Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.; Medical Genetics (MEDGEN), GENCOR, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
Simons E; Center of Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
Snyders D; Experimental Neurobiology Unit, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
Nijak A; Center of Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
Vandendriessche B; Center of Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
Schepers D; Center of Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.; Medical Genetics (MEDGEN), GENCOR, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Experimental Neurobiology Unit, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
Akdeniz D; Center of Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
Van Craenenbroeck E; Department of Cardiology, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.; Cardiovascular Research, GENCOR, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
Knaepen K; Center of Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
Rabaut L; Center of Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
Heidbuchel H; Department of Cardiology, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.; Cardiovascular Research, GENCOR, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
Van Laer L; Center of Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.; Medical Genetics (MEDGEN), GENCOR, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
Saenen J; Department of Cardiology, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.; Cardiovascular Research, GENCOR, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
Labro AJ; Experimental Neurobiology Unit, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Department of Basic and Applied Medical Sciences, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.
Loeys B; Center of Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.; Medical Genetics (MEDGEN), GENCOR, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jan 31; Vol. 18 (1), pp. 23. Date of Electronic Publication: 2023 Jan 31.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
KCNQ1 Potassium Channel*/genetics
Long QT Syndrome*/genetics
Animals ; Cricetinae ; Alleles ; Belgium ; Cricetulus ; Humans ; Jervell-Lange Nielsen Syndrome/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Jervell and Lange-Nielsen Syndrome due to a Novel Compound Heterozygous KCNQ1 Mutation in a Chinese Family.
Autorzy:
Qiu Y; Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
Chen S; Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
Wu X; Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
Zhang WJ; Department of Otorhinolaryngology, Distinct HealthCare, Wuhan, China.
Xie W; Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
Jin Y; Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
Xie L; Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
Xu K; Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
Bai X; Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
Zhang HM; Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
Liu XZ; Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
Wang XH; Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
Sun Y; Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
Kong WJ; Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.; Institute of Otorhinolaryngology, Tongji Medical College, Huazhong University of Science and Technology, 430022 Wuhan, China.
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Źródło:
Neural plasticity [Neural Plast] 2020 May 16; Vol. 2020, pp. 3569359. Date of Electronic Publication: 2020 May 16 (Print Publication: 2020).
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Jervell-Lange Nielsen Syndrome/*genetics
KCNQ1 Potassium Channel/*genetics
Asian People ; Child, Preschool ; China ; DNA Mutational Analysis ; Deafness/genetics ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Jervell-Lange Nielsen Syndrome/physiopathology ; Male ; Pedigree
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Cochlear Implantation in Congenital Long-QT Syndrome: A Comprehensive Study.
Autorzy:
Anto R; Madras ENT Research Foundation (P) Ltd, Otorhinolaryngology, Chennai, India.
Maheswari S; Madras ENT Research Foundation (P) Ltd, Otorhinolaryngology, Chennai, India.
Vadivu S; Madras ENT Research Foundation (P) Ltd, Otorhinolaryngology, Chennai, India.
Kameswaran M; Madras ENT Research Foundation (P) Ltd, Otorhinolaryngology, Chennai, India.
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Źródło:
The journal of international advanced otology [J Int Adv Otol] 2019 Dec; Vol. 15 (3), pp. 352-357.
Typ publikacji:
Journal Article; Observational Study
MeSH Terms:
Cochlear Implantation/*methods
Deafness/*surgery
Hearing Loss, Sensorineural/*surgery
Jervell-Lange Nielsen Syndrome/*surgery
Auditory Perception ; Child, Preschool ; Deafness/congenital ; Deafness/physiopathology ; Female ; Hearing Loss, Sensorineural/congenital ; Hearing Loss, Sensorineural/physiopathology ; Humans ; Jervell-Lange Nielsen Syndrome/complications ; Jervell-Lange Nielsen Syndrome/physiopathology ; Male ; Prospective Studies ; Retrospective Studies ; Speech Intelligibility ; Treatment Outcome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Electrocardiogram screening of deaf children for long QT syndrome: An Egyptian experience.
Autorzy:
Gouda S; Department of Cardiology, Cairo University, Cairo, Egypt.
Saif MQ; Department of Cardiology, Cairo University, Cairo, Egypt.
Shabana M; Department of Audiology, Cairo University, Cairo, Egypt.
Salama S; Department of Cardiology, Cairo University, Cairo, Egypt.
Eldamaty A; Department of Cardiology, Cairo University, Cairo, Egypt.
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Źródło:
Pacing and clinical electrophysiology : PACE [Pacing Clin Electrophysiol] 2018 Nov; Vol. 41 (11), pp. 1414-1419. Date of Electronic Publication: 2018 Sep 19.
Typ publikacji:
Journal Article
MeSH Terms:
Electrocardiography/*methods
Jervell-Lange Nielsen Syndrome/*diagnosis
Child ; Child, Preschool ; Cross-Sectional Studies ; Egypt/epidemiology ; Female ; Humans ; Infant ; Jervell-Lange Nielsen Syndrome/epidemiology ; Male ; Mass Screening ; Prevalence
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".
Autorzy:
Uysal F; Department of Pediatric Cardiology, University of Uludag, School of Medicine, Bursa, Turkey.
Turkgenc B; Acibadem Genetic Diagnostic Center, Istanbul, Turkey.
Toksoy G; Department of Medical Genetics, Istanbul University, Faculty of Medicine, Istanbul, Turkey.
Bostan OM; Department of Pediatric, Cardiology, Uludag University, Faculty of Medicine, Bursa, Turkey.
Evke E; Bursa Genetic Diagnostic Center, Bursa, Turkey.
Uyguner O; Department of Medical Genetics, Istanbul University, Faculty of Medicine, Istanbul, Turkey.
Yakicier C; Acibadem Genetic Diagnostic Center, Istanbul, Turkey.; Department of Molecular Biology and Genetic, Acibadem University, Faculty of Science, Istanbul, Turkey.
Kayserili H; Department of Medical Genetics, Istanbul University, Faculty of Medicine, Istanbul, Turkey.; Department of Medical Genetics, Koc University, Faculty of Medicine, Istanbul, Turkey.
Cil E; Department of Pediatric, Cardiology, Uludag University, Faculty of Medicine, Bursa, Turkey.
Temel SG; Department of Histology& Embryology, Near East University, Faculty of Medicine, Nicosia, North, Cyprus. .; Department of Medical Genetics, Uludag University, Faculty of Medicine, Bursa, Turkey. .; Department of Histology & Embryology, Uludag University, Faculty of Medicine, Bursa, Turkey. .; Gorukle campuss, Uludag University, School of Medicine, 16059, Nilufer, Bursa, Turkey. .
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Źródło:
BMC medical genetics [BMC Med Genet] 2017 Oct 16; Vol. 18 (1), pp. 114. Date of Electronic Publication: 2017 Oct 16.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Polymorphism, Single Nucleotide*
Hearing Loss, Sensorineural/*congenital
Jervell-Lange Nielsen Syndrome/*genetics
KCNQ1 Potassium Channel/*genetics
Adrenergic beta-Antagonists/therapeutic use ; Child, Preschool ; Electrocardiography ; Female ; Hearing Loss, Sensorineural/etiology ; Heterozygote ; High-Throughput Nucleotide Sequencing/methods ; Homeobox Protein Nkx-2.5/genetics ; Homozygote ; Humans ; Infant ; Jervell-Lange Nielsen Syndrome/diagnosis ; Jervell-Lange Nielsen Syndrome/drug therapy ; Male ; Pedigree ; Potassium Channels, Voltage-Gated/genetics ; Ryanodine Receptor Calcium Release Channel/genetics ; Sequence Analysis, DNA/methods ; Turkey
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report.
Autorzy:
Adadi N; Centre de Génomique Humaine, Faculté de Médecine et Pharmacie, Mohammed V University, Rabat, Morocco. .; Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco. .
Lahrouchi N; Department of Clinical and Experimental Cardiology, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
Bouhouch R; Electrophysiologie et Stimulation Cardiaque, Clinique Belvédère, Rabat, Morocco.
Fellat I; Electrophysiologie et Stimulation Cardiaque, Clinique Belvédère, Rabat, Morocco.
Amri R; Service de Cardiologie B, CHU Ibn Sina, Rabat, Morocco.
Alders M; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
Sefiani A; Centre de Génomique Humaine, Faculté de Médecine et Pharmacie, Mohammed V University, Rabat, Morocco.; Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco.
Bezzina C; Department of Clinical and Experimental Cardiology, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
Ratbi I; Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco.
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Źródło:
Journal of medical case reports [J Med Case Rep] 2017 Apr 02; Vol. 11 (1), pp. 88. Date of Electronic Publication: 2017 Apr 02.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Electrocardiography*
Genetic Counseling*
Adrenergic beta-Antagonists/*therapeutic use
Jervell-Lange Nielsen Syndrome/*diagnosis
Syncope/*genetics
Child ; DNA Mutational Analysis ; Humans ; Jervell-Lange Nielsen Syndrome/genetics ; KCNQ1 Potassium Channel/genetics ; Male ; Morocco ; Mutation, Missense/genetics ; Pedigree ; Syncope/etiology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Incidence and relevance of QTc-interval prolongation caused by tyrosine kinase inhibitors.
Autorzy:
Kloth JS; Department of Medical Oncology, Erasmus MC Cancer Institute, PO Box 5201, 3075EA Rotterdam, The Netherlands.
Pagani A; Department of Medical Oncology, Fondazione S. Maugeri, Via Maugeri 10, 27100 Pavia, Italy.
Verboom MC; Department of Clinical Oncology, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, The Netherlands.
Malovini A; Laboratory of Informatics and Systems Engineering for Clinical Research, Salvatore Maugeri Research and Care Institute, Pavia, Italy.
Napolitano C; Department of Molecular Cardiology, IRCCS Fondazione S. Maugeri, Via Maugeri 10, 27100 Pavia, Italy.
Kruit WH; Department of Medical Oncology, Erasmus MC Cancer Institute, PO Box 5201, 3075EA Rotterdam, The Netherlands.
Sleijfer S; 1] Department of Medical Oncology, Erasmus MC Cancer Institute, PO Box 5201, 3075EA Rotterdam, The Netherlands [2] Cancer Genomics Netherlands, Amsterdam, The Netherlands.
Steeghs N; Department of Medical Oncology, Netherlands Cancer Institute, PO Box 90203, 1006 BE Amsterdam, The Netherlands.
Zambelli A; Department of Medical Oncology, Ospedale Papa Giovanni XXIII, P.zza OMS n 1, 24127 Bergamo, Italy.
Mathijssen RH; Department of Medical Oncology, Erasmus MC Cancer Institute, PO Box 5201, 3075EA Rotterdam, The Netherlands.
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Źródło:
British journal of cancer [Br J Cancer] 2015 Mar 17; Vol. 112 (6), pp. 1011-6. Date of Electronic Publication: 2015 Mar 17.
Typ publikacji:
Journal Article; Multicenter Study
MeSH Terms:
Jervell-Lange Nielsen Syndrome/*chemically induced
Protein Kinase Inhibitors/*adverse effects
Protein-Tyrosine Kinases/*antagonists & inhibitors
Aged ; Arrhythmias, Cardiac/chemically induced ; Arrhythmias, Cardiac/epidemiology ; Electrocardiography/methods ; Female ; Humans ; Incidence ; Italy/epidemiology ; Jervell-Lange Nielsen Syndrome/enzymology ; Jervell-Lange Nielsen Syndrome/epidemiology ; Male ; Middle Aged ; Netherlands/epidemiology ; Retrospective Studies ; Risk
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Mutation Screening of KCNQ1 and KCNE1 Genes in Iranian Patients With Jervell and Lange-Nielsen Syndrome.
Autorzy:
Vojdani S; a Mashhad University of Medical Sciences , Mashhad , Iran.
Amirsalari S; b New Hearing Technologies Research Center, Baqiatallah University of Medical Sciences , Tehran , Iran.
Milanizadeh S; a Mashhad University of Medical Sciences , Mashhad , Iran.
Molaei F; a Mashhad University of Medical Sciences , Mashhad , Iran.
Ajalloueyane M; b New Hearing Technologies Research Center, Baqiatallah University of Medical Sciences , Tehran , Iran.
Khosravi A; c New Hearing Technologies Research Center, Baqiatallah University of Medical Sciences , Tehran , Iran.
Hamzehzadeh L; a Mashhad University of Medical Sciences , Mashhad , Iran.
Ghasemi MM; a Mashhad University of Medical Sciences , Mashhad , Iran.
Talee MR; a Mashhad University of Medical Sciences , Mashhad , Iran.
Abbaszadegan MR; d Human Genetic Division, Immunology Research Center, Bu-Ali Research Institute, Mashhad University of Medical Sciences , Mashhad , Iran.
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Źródło:
Fetal and pediatric pathology [Fetal Pediatr Pathol] 2019 Aug; Vol. 38 (4), pp. 273-281. Date of Electronic Publication: 2019 Apr 03.
Typ publikacji:
Journal Article
MeSH Terms:
Jervell-Lange Nielsen Syndrome/*genetics
KCNQ1 Potassium Channel/*genetics
Potassium Channels, Voltage-Gated/*genetics
DNA Mutational Analysis ; Family Health ; Female ; Frameshift Mutation ; Genetic Association Studies ; Heterozygote ; Homozygote ; Humans ; Iran/epidemiology ; Male ; Pedigree ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Novel combinations of variations in KCNQ1 were associated with patients with long QT syndrome or Jervell and Lange-Nielsen syndrome
Autorzy:
Nongnong Zhao
Zhengyang Yu
Zhejun Cai
Wenai Chen
Xiaopeng He
Zhaoxia Huo
Xiaoping Lin
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Temat:
Jervell and Lange-Nielsen Syndrome
Long QT syndrome
Genetic variants
KCNQ1
Compound heterozygosity
Diseases of the circulatory (Cardiovascular) system
RC666-701
Źródło:
BMC Cardiovascular Disorders, Vol 23, Iss 1, Pp 1-9 (2023)
Opis pliku:
electronic resource
Relacje:
https://doaj.org/toc/1471-2261
Dostęp URL:
https://doaj.org/article/3ec6d602619d480587115e5323497c66  Link otwiera się w nowym oknie
Czasopismo naukowe
Szczegóły
Tytuł:
Cochlear implantation in children with congenital long QT syndrome: Introduction of an evidence-based pathway of care.
Autorzy:
Scott-Warren V; a Department of Paediatric Anaesthesia , Royal Manchester Children's Hospital , Manchester , UK.
Bendon A; b Paediatric ENT Department , Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre , Manchester , UK.
Bruce IA; b Paediatric ENT Department , Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre , Manchester , UK.; c Division of Infection, Immunity and Respiratory Medicine, Faculty of Biology, Medicine and Health , University of Manchester , Manchester , UK.
Henderson L; b Paediatric ENT Department , Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre , Manchester , UK.
Diacono J; a Department of Paediatric Anaesthesia , Royal Manchester Children's Hospital , Manchester , UK.
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Źródło:
Cochlear implants international [Cochlear Implants Int] 2018 Nov; Vol. 19 (6), pp. 350-354. Date of Electronic Publication: 2018 Sep 19.
Typ publikacji:
Journal Article
MeSH Terms:
Cochlear Implantation/*adverse effects
Deafness/*surgery
Jervell-Lange Nielsen Syndrome/*complications
Long QT Syndrome/*complications
Child ; Deafness/congenital ; Female ; Humans ; Long QT Syndrome/congenital ; Male
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Risk-stratifying Jervell and Lange-Nielsen syndrome from clinical data.
Autorzy:
Richter S
Brugada P
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Źródło:
Journal of cardiovascular electrophysiology [J Cardiovasc Electrophysiol] 2006 Nov; Vol. 17 (11), pp. 1169-71. Date of Electronic Publication: 2006 Sep 20.
Typ publikacji:
Comment; Editorial
MeSH Terms:
Jervell-Lange Nielsen Syndrome/*physiopathology
Jervell-Lange Nielsen Syndrome/*therapy
Adrenergic beta-Antagonists/therapeutic use ; Defibrillators, Implantable ; Humans ; Jervell-Lange Nielsen Syndrome/mortality ; Long QT Syndrome/mortality ; Long QT Syndrome/physiopathology ; Long QT Syndrome/therapy ; Risk Factors
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome.
Autorzy:
Goldenberg I; Division of Cardiology, Department of Medicine, University of Rochester Medical Center, Rochester, New York 14642, USA. />Moss AJ
Zareba W
McNitt S
Robinson JL
Qi M
Towbin JA
Ackerman MJ
Murphy L
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Źródło:
Journal of cardiovascular electrophysiology [J Cardiovasc Electrophysiol] 2006 Nov; Vol. 17 (11), pp. 1161-8. Date of Electronic Publication: 2006 Aug 14.
Typ publikacji:
Comparative Study; Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Jervell-Lange Nielsen Syndrome/*physiopathology
Jervell-Lange Nielsen Syndrome/*therapy
Adolescent ; Adrenergic beta-Antagonists/therapeutic use ; Adult ; Child ; Child, Preschool ; Defibrillators, Implantable ; Female ; Follow-Up Studies ; Humans ; Infant ; Jervell-Lange Nielsen Syndrome/genetics ; Long QT Syndrome/genetics ; Long QT Syndrome/physiopathology ; Long QT Syndrome/therapy ; Male ; Prospective Studies ; Risk Factors
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 258

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