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Wyświetlanie 1-11 z 11
Tytuł :
A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital Neutropenia.
Autorzy :
Goktas S; Departments of Pediatrics, Division of Pediatric Allergy and Immunology Medical Biology Pediatrics, Division of Pediatric Hematology-Oncology & Pediatric HSCT Unit, Faculty of Medicine, Erciyes University Pediatric Allergy and Immunology Clinic, Kayseri City Hospital, Health Science University Betül-Ziya Eren Genome and Stem Cell Center (GENKOK), Kayseri Adana Genetic Diseases Diagnosis and Treatment Center (AGENTEM) Department of Medical Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
Azizoglu ZB
Petersheim D
Erdogan M
Eke Gungor H
Bisgin A
Tuğ Bozdoğan S
Eken A
Unal E
Klein C
Patiroglu T
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Źródło :
Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2021 Feb 03. Date of Electronic Publication: 2021 Feb 03.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
Autorzy :
Schottlaender LV; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, WC1N 1EH London, UK; Argentine National Scientific and Technological Research Council (CONICET), C1425FQB Buenos Aires, Argentina; FLENI Neurological Research Institute, C1428 AQK Buenos Aires, Argentina.
Abeti R; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK.
Jaunmuktane Z; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK; Division of Neuropathology, The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, Queen Square, London WC1N 3BG, UK.
Macmillan C; Department of Pediatrics, University of Chicago, Chicago, IL 60637, USA.
Chelban V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
O'Callaghan B; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
McKinley J; Department of Neurology, Dublin Neurological Institute at the Mater Misericordiae University Hospital, 57 Eccles St, Dublin 7 DO7W7XF, Ireland; Regional Neurosciences Centre, Royal Victoria Hospital, Belfast BT12 6BA, UK.
Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Athanasiou-Fragkouli A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Forbes R; Neurology Centre, Southern HSC Trust, Craigavon Area Hospital, Portadown BT63 5QQ, UK.
Soutar MPM; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Livingston JH; Paediatric Neurology, The Leeds Teaching Hospitals NHS Trust, Leeds General Infirmary, Leeds LS1 3EX, UK.
Kalmar B; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Swayne O; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK; The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
Hotton G; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK; The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
Pittman A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Mendes de Oliveira JR; Universidade Federal de Pernambuco, Departamento de Neuropsiquiatria, Recife 50670-901, Brazil.
de Grandis M; Aix-Marseille University, Inserm, CNRS, Institut Paoli-Calmettes, CRCM, 13009 Marseille, France.
Richard-Loendt A; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Launchbury F; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Althonayan J; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK.
McDonnell G; Regional Neurosciences Centre, Royal Victoria Hospital, Belfast BT12 6BA, UK.
Carr A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK; The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
Khan S; CENTOGENE AG, Rostock 18055, Germany.
Beetz C; CENTOGENE AG, Rostock 18055, Germany.
Bisgin A; Medical Genetics Department of Medical Faculty & AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Çukurova University, Adana 01330, Turkey.
Tug Bozdogan S; Medical Genetics Department of Medical Faculty & AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Çukurova University, Adana 01330, Turkey.
Begtrup A; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Torti E; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Greensmith L; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Giunti P; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK.
Morrison PJ; Centre for Cancer Research and Cell Biology, Queens University, Belfast BT9 7AE, UK.
Brandner S; Division of Neuropathology, The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, Queen Square, London WC1N 3BG, UK.
Aurrand-Lions M; Aix-Marseille University, Inserm, CNRS, Institut Paoli-Calmettes, CRCM, 13009 Marseille, France.
Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK; The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK; Neurogenetics Laboratory and Clinical Service, The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK. Electronic address: .
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Corporate Authors :
SYNAPS Study Group; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Źródło :
American journal of human genetics [Am J Hum Genet] 2020 Mar 05; Vol. 106 (3), pp. 412-421.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Age of Onset*
Alleles*
Genes, Recessive*
Brain Diseases/*genetics
Calcinosis/*genetics
Cell Adhesion Molecules/*genetics
Adolescent ; Adult ; Animals ; Brain Diseases/diagnostic imaging ; Calcinosis/diagnostic imaging ; Child ; Female ; Humans ; Male ; Mice ; Middle Aged ; Pedigree
Czasopismo naukowe
Tytuł :
IL-1RN VNTR, IL-2(-330), and IL-4 VNTR gene polymorphisms in patients with chronic rhinosinusitis with sinonasal polyposis
Autorzy :
Kuran G; Adana City Training and Research Hospital, ENT Department, Adana, Turkey
Aslan H; Eskisehir Osmangazi University Medical Faculty, Department of Medical Genetics, Eskisehir, Turkey
Haytoğlu S; Adana City Training and Research Hospital, ENT Department, Adana, Turkey
Özalp Yüreğir Ö; Adana City Training and Research Hospital, Department of Medical Genetics, Adana, Turkey
Tuğ Bozdoğan S; Mersin University Medical Faculty, Department of Medical Genetics, Mersin, Turkey
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Źródło :
Turkish journal of medical sciences [Turk J Med Sci] 2019 Oct 24; Vol. 49 (5), pp. 1411-1417. Date of Electronic Publication: 2019 Oct 24.
Typ publikacji :
Journal Article
MeSH Terms :
Interleukin 1 Receptor Antagonist Protein/*genetics
Interleukin-2/*genetics
Interleukin-4/*genetics
Minisatellite Repeats/*genetics
Nasal Polyps/*genetics
Paranasal Sinus Diseases/*genetics
Polymorphism, Single Nucleotide/*genetics
Rhinitis/*genetics
Sinusitis/*genetics
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Alleles ; Case-Control Studies ; Chronic Disease ; Female ; Genetic Predisposition to Disease/genetics ; Humans ; Male ; Middle Aged ; Young Adult
Czasopismo naukowe
Tytuł :
BRCA mutation characteristics in a series of index cases of breast cancer selected independent of family history.
Autorzy :
Bisgin A; Faculty of Medicine, Medical Genetics Department of Balcali Clinic and Hospital, Cukurova University, Adana, Turkey.; Cukurova University AGENTEM (Adana Genetic Disease Diagnosis and Treatment Center), Adana, Turkey.
Boga I; Cukurova University AGENTEM (Adana Genetic Disease Diagnosis and Treatment Center), Adana, Turkey.; Department of Biotehnology, Institute of Science, Cukurova University, Adana, Turkey.
Yalav O; General Surgey Department of Balcali Clinis and Hospital, Faculty of Medicine, Cukurova Unversity, Adana, Turkey.
Sonmezler O; Cukurova University AGENTEM (Adana Genetic Disease Diagnosis and Treatment Center), Adana, Turkey.; Department of Biotehnology, Institute of Science, Cukurova University, Adana, Turkey.
Tug Bozdogan S; Faculty of Medicine, Medical Genetics Department of Balcali Clinic and Hospital, Cukurova University, Adana, Turkey.; Cukurova University AGENTEM (Adana Genetic Disease Diagnosis and Treatment Center), Adana, Turkey.
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Źródło :
The breast journal [Breast J] 2019 Sep; Vol. 25 (5), pp. 1029-1033. Date of Electronic Publication: 2019 Jun 22.
Typ publikacji :
Journal Article
MeSH Terms :
Genes, BRCA1*
Genes, BRCA2*
Mutation*
Breast Neoplasms/*genetics
Breast Neoplasms/etiology ; Female ; Genetic Predisposition to Disease ; Humans
Czasopismo naukowe
Tytuł :
Familial hypertrophic cardiomyopathy: A case with a new mutation in the MYBPC3 gene.
Autorzy :
Hallıoğlu Kılınç O
Giray D; Department of Pediatric Cardiology, Mersin University Faculty of Medicine, Mersin, Turkey. .
Bişgin A
Tuğ Bozdoğan S
Karpuz D
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Źródło :
Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir [Turk Kardiyol Dern Ars] 2017 Jul; Vol. 45 (5), pp. 450-453.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Cardiomyopathy, Hypertrophic, Familial/*genetics
Carrier Proteins/*genetics
Cardiomyopathy, Hypertrophic, Familial/complications ; Cardiomyopathy, Hypertrophic, Familial/diagnostic imaging ; Child, Preschool ; Echocardiography ; Female ; Heart Septal Defects, Ventricular/complications ; Humans ; Male ; Mutation
Czasopismo naukowe
Tytuł :
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
Autorzy :
Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Harel T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Coban Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Gonzaga-Jauregui C; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Erdin S; Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Bayram Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Campbell IM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Hunter JV; Department of Pediatric Radiology, Texas Children's Hospital, Houston, TX 77030, USA.
Atik MM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Van Esch H; Center for Human Genetics, University Hospitals Leuven, Herestraat, 49 B 3000 Leuven, Belgium.
Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Wiszniewski W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Isikay S; Department of Child Neurology, Gaziantep Children's Hospital, Gaziantep 27560, Turkey.
Yesil G; Department of Medical Genetics, Bezmialem University, Istanbul 34093, Turkey.
Yuregir OO; Department of Medical Genetics, Numune Training and Research Hospital, Adana 01240, Turkey.
Tug Bozdogan S; Department of Medical Genetics, Mersin University, Mersin 33343, Turkey.
Aslan H; Department of Medical Genetics, Medical Faculty of Eskisehir Osmangazi University, Eskisehir 26480, Turkey.
Aydin H; Department of Medical Genetics, Medical Faculty of Namik Kemal University, Tekirdag 59100, Turkey.
Tos T; Department of Medical Genetics, Sami Ulus Children's Hospital, Ankara 06080, Turkey.
Aksoy A; Department of Pediatric Neurology, Sami Ulus Children's Hospital, Ankara 06080, Turkey.
De Vivo DC; Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
Jain P; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY 10032, USA.
Geckinli BB; Department of Medical Genetics, Marmara University School of Medicine, Istanbul 34722, Turkey.
Sezer O; Department of Medical Genetics, Samsun Education and Research Hospital, Samsun 55100, Turkey.
Gul D; Department of Medical Genetics, Gulhane Military Medical School, Ankara 06010, Turkey.
Durmaz B; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir 35040, Turkey.
Cogulu O; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir 35040, Turkey.
Ozkinay F; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir 35040, Turkey.
Topcu V; Department of Medical Genetics, Zekai Tahir Burak Women's Health Training and Research Hospital, Ankara 06230, Turkey.
Candan S; Medical Genetics Section, Balikesir Ataturk Public Hospital, Balikesir 10100, Turkey.
Cebi AH; Department of Medical Genetics, Karadeniz Technical University, Trabzon 61310, Turkey.
Ikbal M; Department of Medical Genetics, Karadeniz Technical University, Trabzon 61310, Turkey.
Yilmaz Gulec E; Medical Genetics Section, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
Gezdirici A; Medical Genetics Section, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
Koparir E; Medical Genetics Section, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
Ekici F; Medical Genetics Section, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey.
Coskun S; Department of Medical Genetics, Dicle University Faculty of Medicine, Diyarbakir 21280, Turkey.
Cicek S; Medical Genetics Section, Konya Numune Training and Research Hospital, Konya 42250, Turkey.
Karaer K; Intergen Genetic Center, Ankara 06700, Turkey.
Koparir A; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Duz MB; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Kirat E; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Fenercioglu E; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Ulucan H; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Seven M; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey.
Guran T; Department of Pediatric Endocrinology and Diabetes, Marmara University Hospital, Istanbul 34899, Turkey.
Elcioglu N; Department of Pediatric Genetics, Marmara University Medical Faculty, Istanbul 34854, Turkey.
Yildirim MS; Department of Genetics, Necmettin Erbakan University, Meram Medical Faculty, Konya 42060, Turkey.
Aktas D; Damagen Genetic Diagnostic Center and Department of Medical Genetics, Hacettepe University Medical School, Ankara 06230, Turkey.
Alikaşifoğlu M; Damagen Genetic Diagnostic Center and Department of Medical Genetics, Hacettepe University Medical School, Ankara 06230, Turkey.
Ture M; Department of Medical Genetics, Uludag University Medical Faculty, Bursa 16120, Turkey.
Yakut T; Department of Medical Genetics, Uludag University Medical Faculty, Bursa 16120, Turkey.
Overton JD; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
Yuksel A; Biruni University, Istanbul 34010, Turkey.
Ozen M; Biruni University, Istanbul 34010, Turkey.
Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Adams DR; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.
Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Chung WK; Department of Pediatrics and Medicine, Columbia University Medical Center, 1150 St. Nicholas Avenue, New York, NY 10032, USA.
Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: .
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Źródło :
Neuron [Neuron] 2015 Nov 04; Vol. 88 (3), pp. 499-513.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Brain/*pathology
Gene Regulatory Networks/*genetics
Genetic Variation/*genetics
Mendelian Randomization Analysis/*methods
Nervous System Diseases/*diagnosis
Nervous System Diseases/*genetics
Brain/abnormalities ; Cohort Studies ; Databases, Genetic ; Female ; Genetic Association Studies/methods ; Humans ; Male ; Pedigree
Czasopismo naukowe
    Wyświetlanie 1-11 z 11

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