Evaluation of The Results of Patients who Applied to the Cukurova University Medical Genetics Department for Prenatal Diagnosis and Determination of Genetic Counseling Principles.
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. TugBozdoganS; 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.
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
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. TugBozdoganS; 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.
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. TugBozdoganS; 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
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