Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies.

Autor: Andreeva TV; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119991, Russia.; Center for Brain Neurobiology and Neurogenetics, Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk 630090, Russia., Tyazhelova TV; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119991, Russia., Rykalina VN; Max-Planck Institute for Molecular Genetics, Berlin 14195, Germany.; Alacris Theranostics GmbH, Berlin 14195, Germany.; Freie Universitaät Berlin, Berlin 14195, Germany., Gusev FE; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119991, Russia.; Center for Brain Neurobiology and Neurogenetics, Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk 630090, Russia., Goltsov AY; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119991, Russia., Zolotareva OI; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119991, Russia.; Faculty of Bioengineering and Bioinformatics, Center of Genetics and Genetic Technologies, Lomonosov Moscow State University, Moscow 119234, Russia., Aliseichik MP; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119991, Russia., Borodina TA; Max-Planck Institute for Molecular Genetics, Berlin 14195, Germany.; Alacris Theranostics GmbH, Berlin 14195, Germany.; Freie Universitaät Berlin, Berlin 14195, Germany., Grigorenko AP; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119991, Russia.; Center for Brain Neurobiology and Neurogenetics, Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk 630090, Russia.; Department of Psychiatry, Brudnick Neuropsychiatric Research Institute, University of Massachusetts Medical School, Worcester, Massachusetts 01604, USA., Reshetov DA; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119991, Russia., Ginter EK; Federal State Budgetary Institution «Research Centre for Medical Genetics», Moscow 115478, Russia., Amelina SS; The Rostov State Medical University, Rostov-on-Don 344022, Russia., Zinchenko RA; Federal State Budgetary Institution «Research Centre for Medical Genetics», Moscow 115478, Russia.; Pirogov Russian National Research Medical University, Moscow 117997, Russia., Rogaev EI; Department of Genomics and Human Genetics, Laboratory of Evolutionary Genomics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119991, Russia.; Center for Brain Neurobiology and Neurogenetics, Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk 630090, Russia.; Faculty of Bioengineering and Bioinformatics, Center of Genetics and Genetic Technologies, Lomonosov Moscow State University, Moscow 119234, Russia.; Department of Psychiatry, Brudnick Neuropsychiatric Research Institute, University of Massachusetts Medical School, Worcester, Massachusetts 01604, USA.

Publikováno v: Scientific reports [Sci Rep] 2016 May 24; Vol. 6, pp. 26440. Date of Electronic Publication: 2016 May 24.

[The load and diversity of hereditary diseases in four raions of Rostov oblast].

Autor: Amelina SS, Vetrova NV, Amelina MA, Degtereva EV, Ponomareva TI, El'chinova GI, Mikhaĭlova LK, Zinchenko RA

Publikováno v: Genetika [Genetika] 2014 Jan; Vol. 50 (1), pp. 91-9.

[Epidemiology of monogenic hereditary diseases in Rostov oblast: population dynamic factors determining the differentiation of the load of hereditary diseases in eight districts].

Autor: Zinchenko RA, Amelina SS, Shokarev RA, Val'kov RA, Val'kova TI, Vetrova NV, Kriventsova NV, El'chinova GI, Petrova NV, Khlebnikova OV

Publikováno v: Genetika [Genetika] 2009 Apr; Vol. 45 (4), pp. 536-45.

[Medical genetic study of the Rostov oblast population: analysis of surname distribution in seven districts].

Autor: El'chinova GI, Kriventsova NV, Amelina SS, Shokarev RA, Zinchenko RA

Publikováno v: Genetika [Genetika] 2006 Apr; Vol. 42 (4), pp. 558-65.

[Medical genetic study of the Rostov Oblast population: changes in reproductive parameters with time].

Autor: El'chinova GI, Kriventsova NV, Amelina SS, Zinchenko RA

Publikováno v: Genetika [Genetika] 2004 Nov; Vol. 40 (11), pp. 1576-9.