Spectrum of Genes for Non- GJB2 -Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel.

Autor: Shatokhina, Olga, Galeeva, Nailya, Stepanova, Anna, Markova, Tatiana, Lalayants, Maria, Alekseeva, Natalia, Tavarkiladze, George, Bessonova, Liudmila, Petukhova, Marina, Guseva, Daria, Anisimova, Inga, Polyakov, Alexander, Ryzhkova, Oxana, Bliznetz, Elena

Publikováno v: International Journal of Molecular Sciences; Dec2022, Vol. 23 Issue 24, p15748, 12p

A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia.

Autor: Solovyev, Aisen V., Kushniarevich, Alena, Bliznetz, Elena, Bady-Khoo, Marita, Lalayants, Maria R., Markova, Tatiana G., Minárik, Gabriel, Kádasi, L'udevít, Metspalu, Ene, Pshennikova, Vera G., Teryutin, Fedor M., Khusnutdinova, Elza K., Poliakov, Alexander, Metspalu, Mait, Posukh, Olga L., Barashkov, Nikolay A., Fedorova, Sardana A.

Publikováno v: Human Genetics; Apr2022, Vol. 141 Issue 3/4, p697-707, 11p

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Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649)

Autor: Knappskog, Stian, Gansmo, Liv Beathe, Dibirova, Khadizha, Metspalu, Andres, Cybulski, Cezary, Peterlongo, Paolo, Aaltonen, Lauri, Vatten, Lars Johan, Romundstad, Pål Richard, Hveem, Kristian, Devilee, Peter, Evans, Gareth D, Lin, Dongxin, Van Camp, Guy, Manolopoulos, Vangelis G, Osorio, Ana, Milani, Lili, Ozcelik, Tayfun, Zalloua, Pierre, Mouzaya, Francis, Bliznetz, Elena, Balanovska, Elena, Pocheshkova, Elvira, Kucinskas, Vaidutis, Atramentova, Lubov, Nymadawa, Pagbajabyn, Titov, Konstantin, Lavryashina, Maria, Yusupov, Yuldash, Bogdanova, Natalia, Koshel, Sergey, Zamora, Jorge, Wedge, David C., Charlesworth, Deborah, Dörk, Thilo, Balanovsky, Oleg, Lønning, Per Eystein

Externí odkaz: http://hdl.handle.net/11250/297938

Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649).

Autor: Knappskog S; Section of Oncology, Department of Clinical Science, University of Bergen, 5020 Bergen, Norway. Department of Oncology, Haukeland University Hospital, 5021 Bergen, Norway., Gansmo LB; Section of Oncology, Department of Clinical Science, University of Bergen, 5020 Bergen, Norway. Department of Oncology, Haukeland University Hospital, 5021 Bergen, Norway., Dibirova K; Research Centre for Medical Genetics, Russian Academy of Medical Sciences, 115478 Moscow, Russia., Metspalu A; Estonian Genome Center, University of Tartu, Tartu, Estonia., Cybulski C; Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland., Peterlongo P; IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy. Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy., Aaltonen L; Department of Medical Genetics, University of Helsinki, Helsinki 00014, Finland., Vatten L; Department of Public Health, Faculty of Medicine, Norwegian University of Science and Technology, Trondheim 7489, Norway., Romundstad P; Department of Public Health, Faculty of Medicine, Norwegian University of Science and Technology, Trondheim 7489, Norway., Hveem K; Department of Public Health, Faculty of Medicine, Norwegian University of Science and Technology, Trondheim 7489, Norway., Devilee P; Department of Human Genetics, Leiden University Medical Center, RC Leiden 2300, The Netherlands. Department of Pathology, Leiden University Medical Center, RC Leiden 2300, The Netherlands., Evans GD; Genetic Medicine, MAHSC, University of Manchester, St. Mary's Hospital, Manchester, M13 OJH, UK., Lin D; Department of Etiology and Carcinogenesis, Cancer Institute and Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China., Van Camp G; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Manolopoulos VG; Laboratory of Pharmacology, Democritus University of Thrace Medical School, Alexandroupolis, Greece., Osorio A; Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, CNIO, Madrid, Spain., Milani L; Estonian Genome Center, University of Tartu, Tartu, Estonia., Ozcelik T; Bilkent University, Faculty of Science, Department of Molecular Biology and Genetics, Ankara, Turkey., Zalloua P; Lebanese American University, Chouran, Beirut, Lebanon., Mouzaya F; Lebanese American University, Chouran, Beirut, Lebanon., Bliznetz E; Research Centre for Medical Genetics, Russian Academy of Medical Sciences, 115478 Moscow, Russia., Balanovska E; Research Centre for Medical Genetics, Russian Academy of Medical Sciences, 115478 Moscow, Russia., Pocheshkova E; Kuban Medical University, Krasnodar, Russia., Kučinskas V; Department of Human and Medical Genetics, Vilnius University, Faculty of Medicine, Vilnius, Lithuania., Atramentova L; Department of Genetics and Cytology, Karazin Kharkiv National University, Kharkiv, Ukraine., Nymadawa P; Mongolian Academy of Medical Sciences, Ulaanbaatar, Mongolia., Titov K; N.N. Blokhin Russian Cancer Research Center RAMS, Russia., Lavryashina M; Kemerovo State University, Kemerovo, Russia., Yusupov Y; Institute for Humanities Research of the Republic of Bashkortostan., Bogdanova N; N.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus. Department of Radiation Oncology, Hannover Medical School, Hannover, Germany., Koshel S; Department of Cartography, Lomonosov Moscow State University, Moscow, Russia., Zamora J; Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK., Wedge DC; Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK., Charlesworth D; University of Edinburgh, Institute of Evolutionary Biology, Edinburgh, Midlothian, Scotland., Dörk T; Department of Obstetrics and Gynecology, Hannover Medical School, Hannover, Germany., Balanovsky O; Research Centre for Medical Genetics, Russian Academy of Medical Sciences, 115478 Moscow, Russia. Vavilov Institute of General Genetics RAS, Moscow, Russia., Lønning PE; Section of Oncology, Department of Clinical Science, University of Bergen, 5020 Bergen, Norway. Department of Oncology, Haukeland University Hospital, 5021 Bergen, Norway.

Publikováno v: Oncotarget [Oncotarget] 2014 Sep 30; Vol. 5 (18), pp. 8223-34.