المؤلفون: D. D. Nadyrshina, A. R. Zaripova, A. V. Tyrin, V. L. Akhmetova, R. I. Khusainova, Д. Д. Надыршина, А. Р. Зарипова, А. В. Тюрин, В. Л. Ахметова, Р. И. Хусаинова

المصدر: Medical Genetics; Том 21, № 10 (2022); 23-27 ; Медицинская генетика; Том 21, № 10 (2022); 23-27 ; 2073-7998

مصطلحات موضوعية: остеопетроз, osteogenesis imperfecta, osteopetrosis, несовершенный остеогенез

وصف الملف: application/pdf

العلاقة: https://www.medgen-journal.ru/jour/article/view/2158/1625Test; Van Dijk F., Sillence D. Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment. Am. J. Med. Genet. Part A. 2014;164:1470-1481. https://doi.org/10.1002/ajmg.a.36545Test.; Zaripova A., Khusainova R. Modern classification and molecular-genetic aspects of osteogenesis imperfecta. Vavilov J. Genet. Breed. 2020;24:219-227. https://doi.org/10.18699/vj20.614Test.; Malfait F., Francomano C., Byers P. et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am. J. Med. Genet. C. Semin. Med. Genet. 2017;175:8-26. https://doi.org/10.1002/ajmg.c.31552Test.; Stark Z., Savarirayan R. Osteopetrosis. Orphanet J Rare Dis. 2009; 20;4:5. doi:10.1186/1750-1172-4-5.; http: /www.ncbi.nlm.nih.gov/RefSeq; https://oi.gene.le.ac.ukTest; https://eds.gene.le.ac.ukTest; http: /gnomad.broadinsitute.org; Bliznetz, E., Tverskaya, S., Zinchenko, R. et al. Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect. Eur J Hum Genet. 2009; 17, 664-672. https://doi.org/10.1038/ejhg.2008.234Test; Lindahl K., Åström E., Rubin et al. Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesisimperfecta. Eur. J. Hum. Genet. 2015; 23:1042-1050. https://doi.org/10.1038/ejhg.2015.81Test.; Symoens S., Syx D., Malfait F. et al.Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. Hum Mutat. 2012;33:1485-1493. https://doi.org/10.1002/humu.22137Test.; https://www.medgen-journal.ru/jour/article/view/2158Test

الإتاحة: https://doi.org/10.25557/2073-7998.2022.10.23-27Test
https://doi.org/10.1002/ajmg.a.36545Test
https://doi.org/10.18699/vj20.614Test
https://doi.org/10.1002/ajmg.c.31552Test
https://doi.org/10.1186/1750-1172-4-5Test
https://doi.org/10.1038/ejhg.2008.234Test
https://doi.org/10.1038/ejhg.2015.81Test
https://doi.org/10.1002/humu.22137Test
https://www.medgen-journal.ru/jour/article/view/2158Test

المؤلفون: Nailya Spitsina, Ene Metspalu, Sergey Litvinov, Rodrigo Flores, N. V. Balinova, Siiri Rootsi, Maere Reidla, Helen Post, Richard Villems, Rita Khusainova, Hovhannes Sahakyan, Alena Kushniarevich, Elza Bakaeva, Irina Khomyakova, Keemya Orlova, V. L. Akhmetova, Monika Karmin, Phillip Endicott, Rena A. Zinchenko, Elza Khusnutdinova, Murat Dzhaubermezov

المصدر: European Journal of Human Genetics

مصطلحات موضوعية: Male, Genotype, Population genetics, Population, Genetic relationship, Context (language use), Inner Asia, Polymorphism, Single Nucleotide, Haplogroup, Article, Lineage (anthropology), 03 medical and health sciences, Asian People, Genetics, Humans, Clan, education, China, Genetics (clinical), Phylogeny, 030304 developmental biology, 0303 health sciences, education.field_of_study, Chromosomes, Human, Y, Polymorphism, Genetic, Geography, 030305 genetics & heredity, Chromosome Mapping, Mongolia, Genealogy, Europe, Genetics, Population, Haplotypes, Microsatellite Repeats

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c42bb7ee98307cee77945e7f88009da0Test
http://europepmc.org/articles/PMC6777519Test

المؤلفون: Ancha Baranova, V. P. Puzyrev, Tatiana V. Tatarinova, N. N. Trofimova, Vadim Stepanov, Marina Gubina, Rita Khusainova, A. V. Marusin, Egor Prokhortchouk, Edward J. Vajda, A. B. Teslyuk, Oleg Balanovsky, Eugenia S. Boulygina, Maria Spiridonova, I. M. Khidiyatova, Alexandr M. Mazur, Martin Triska, Irina Khitrinskaya, Svetlana V. Tsygankova, Natalia A Konovalova, Ganesh Prasad Arun Kumar, Ekaterina Khrameeva, Petr Triska, Nikolay Chekanov, Konstantin Babalyan, V. L. Akhmetova, Sergey Litvinov, Elza Khusnutdinova, Konstantin G. Skryabin, V. N. Kharkov, D. Ivanoshchuk

المصدر: BMC Genetics, Vol 18, Iss S1, Pp 5-20 (2017)
BMC Genetics

مصطلحات موضوعية: Male, 0301 basic medicine, Genotyping Techniques, Population genetics, Datasets as Topic, 030105 genetics & heredity, History, 18th Century, Russia, Ethnicity, Slavic languages, Khanty, History, Ancient, Genetics (clinical), History, 15th Century, Genetics, education.field_of_study, History, 19th Century, Emigration and Immigration, Europe, Biogeography, History, 16th Century, Genetic structure, language, Ethnology, Female, Algorithms, Asia, lcsh:QH426-470, Demographic history, Old Believers, Population, IBD, Eastern Europe, Admixture, Biology, History, 21st Century, History, 17th Century, 03 medical and health sciences, Humans, education, Research, Genetic Variation, DNA, History, 20th Century, History, Medieval, language.human_language, Siberia, lcsh:Genetics, Genetics, Population, 030104 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f52e8fc48f56b00ae0f7c28ce89a4dceTest
http://link.springer.com/article/10.1186/s12863-017-0578-3Test

المؤلفون: S. S. Litvinov, Rita Khusainova, E. K. Khusnutdinova, V. L. Akhmetova

المصدر: Russian Journal of Genetics. 53:910-922

مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, Carrier signal, Phenylalanine, Gene mutation, Biology, medicine.disease_cause, Carrier rate, 03 medical and health sciences, 030104 developmental biology, medicine, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::790737fdbc9358edb09bd7e508507f03Test
https://doi.org/10.1134/s1022795417060023Test

المؤلفون: Rita Khusainova, V. L. Akhmetova, N. V. Balinova, E. K. Khusnutdinova, S. S. Litvinov, N. V. Ekomasova, Murat Dzhaubermezov

المصدر: Russian Journal of Genetics. 53:1152-1158

مصطلحات موضوعية: 0301 basic medicine, Genetics, Genetic diversity, St analysis, Genetic relationship, Biology, Y chromosome, Haplogroup, 03 medical and health sciences, 030104 developmental biology, Evolutionary biology, Principal component analysis, Maximum difference

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3eb4fda90f804c6052f74e4ee6b3599dTest
https://doi.org/10.1134/s1022795417100039Test

المؤلفون: R.I. Sultanova, I.R. Minniakhmetov, A. F. Akhmetgaleeva, R.I. Khusainova, O. E. Zaitseva, V. L. Akhmetova

المصدر: Доклады Башкирского университета. :322

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Family medicine, Medicine, Center (algebra and category theory), General Medicine, business, Pharmacogenetics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::745550aa0b58c30cca583193f68241ecTest
https://doi.org/10.33184/dokbsu-2020.5.2Test

المؤلفون: S. S. Litvinov, Rita Khusainova, L. N. Penkin, Elza Khusnutdinova, Farida Akhatova, N. V. Trofimova, V. L. Akhmetova

المصدر: Russian Journal of Genetics. 51:108-115

مصطلحات موضوعية: Genetics, education.field_of_study, Genetic diversity, Population, Ethnic group, Gene pool, Biology, education, Y chromosome, Haplogroup

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::530edcaacdaaebce0915a7b0c0af86efTest
https://doi.org/10.1134/s1022795414120138Test

المؤلفون: N. V. Ekomasova, Elza Khusnutdinova, Andrea Bamberg Migliano, Vedrana Škaro, Georgi Hudjashov, L. A. Atramentova, Murray P. Cox, Evelin Mihailov, Marta Mirazón Lahr, Mait Metspalu, Herawati Sudoyo, Monika Karmin, Alexia Cardona, Florin Mircea Iliescu, Melissa A. Wilson Sayres, Bayazit Yunusbayev, Dilbar Dalimova, Boris Malyarchuk, Michael D. Petraglia, Rita Khusainova, Grigor Zoraqi, Mark G. Thomas, Gazi Nurun Nahar Sultana, Irina Evseeva, Kuvat T. Momynaliev, François-Xavier Ricaut, Jainagul Isakova, A. S. Karunas, Reedik Mägi, Joseph Lachance, Kristiina Tambets, Lejla Mulahasanovic, Elena Balanovska, S M Abdullah, Levon Yepiskoposyan, Oleg Balanovsky, Nicolas Brucato, Yali Xue, Lauri Saag, Andrea Manica, Christina A. Eichstaedt, Mario Mitt, Florian Clemente, Ene Metspalu, Sardana A. Fedorova, Chris Tyler-Smith, Andres Metspalu, Charlotte E. Inchley, Pagbajabyn Nymadawa, Matthew Leavesley, Marina Gubina, Guy S. Jacobs, David M. Lambert, Craig Muller, Thierry Letellier, Elvira Pocheshkhova, Qasim Ayub, Joseph Wee, Pascale Gerbault, Zhaxylyk Sabitov, Doron M. Behar, Nikolay A. Barashkov, Dragan Primorac, Christiana L. Scheib, Tiago Antao, Evelyn Jagoda, Olga Utevska, Jeffrey D. Wall, Sarah A. Tishkoff, Toomas Kivisild, Gyaneshwer Chaubey, Shahlo Turdikulova, Eske Willerslev, Alena Kushniarevich, Lehti Saag, Chandana Basu Mallick, I. M. Khidiyatova, Ludmila P. Osipova, Alexander Mörseburg, Hovhannes Sahakyan, Damir Marjanović, Larisa Damba, Richard Villems, Anders Eriksson, Miroslava Derenko, Sergei Litvinov, Daniel Lawson, Rasmus Nielsen, V. L. Akhmetova, Maru Mormina, Mari Järve, Luca Pagani, George Andriadze, Michael DeGiorgio, Mikhail Voevoda, Daria V. Lichman, Michael C. Westaway, Sarah Kaewert

المساهمون: Wellcome Trust Genome Campus, The Wellcome Trust Sanger Institute [Cambridge], Human Evolution, University of Pennsylvania [Philadelphia], Institute of Molecular Biology and Medicine, International Network for the Sequencing of resPIRratory vIrusEs (INSPIRE), Department of Oncology, Human Genetics, Physiopathologie mitochondriale, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Leverhulme Centre for Human Evolutionary Studies University of Cambridge, University of Cambridge [UK] (CAM), The Estonian Genome Center, University of Tartu, Institute of Cytology and Genetics, Russian Academy of Sciences [Moscow] (RAS), School of Archaeology, University of Oxford [Oxford], Russian Academy of Medical Sciences, Institute of Biochemistry and Genetics [Bashkortostan Republic, Russia], Russian Academy of Sciences / Ufa Scientific Centre [Bashkortostan Republic, Russia]], Dept Integrat Biol, UMR 6578 : Anthropologie Bio-Culturelle (UAABC), Université de la Méditerranée - Aix-Marseille 2-Centre National de la Recherche Scientifique (CNRS), Section for GeoGenetics, Globe Institute, Faculty of Health and Medical Sciences, University of Copenhagen = Københavns Universitet (KU)-University of Copenhagen = Københavns Universitet (KU)-Faculty of Health and Medical Sciences, University of Copenhagen = Københavns Universitet (KU)-University of Copenhagen = Københavns Universitet (KU), Swedish Institute of Space Physics [Uppsala] (IRF), University of Pennsylvania, University of Oxford, University of Copenhagen = Københavns Universitet (UCPH)-University of Copenhagen = Københavns Universitet (UCPH)-Faculty of Health and Medical Sciences, University of Copenhagen = Københavns Universitet (UCPH)-University of Copenhagen = Københavns Universitet (UCPH), Eriksson, Anders [0000-0003-3436-3726], Cardona, Alexia [0000-0002-7877-5565], Scheib, Christiana [0000-0003-4158-8296], Jacobs, Guy [0000-0002-4698-7758], Mirazon Lahr, Marta [0000-0001-5752-5770], Manica, Andrea [0000-0003-1895-450X], Willerslev, Eske [0000-0002-7081-6748], Kivisild, Toomas [0000-0002-6297-7808], Apollo - University of Cambridge Repository

المصدر: Nature, vol 538, iss 7624
Nature
Nature, Nature Publishing Group, 2016, 538 (7624), pp.238-242. ⟨10.1038/nature19792⟩
Pagani, L, Lawson, D J, Jagoda, E, Mörseburg, A, Eriksson, A, Mitt, M, Clemente, F, Hudjashov, G, Degiorgio, M, Saag, L, Wall, J D, Cardona, A, Mägi, R, Sayres, M A W, Kaewert, S, Inchley, C, Scheib, C L, Järve, M, Karmin, M, Jacobs, G S, Antao, T, Iliescu, F M, Kushniarevich, A, Ayub, Q, Tyler-smith, C, Xue, Y, Yunusbayev, B, Tambets, K, Mallick, C B, Saag, L, Pocheshkhova, E, Andriadze, G, Muller, C, Westaway, M C, Lambert, D M, Zoraqi, G, Turdikulova, S, Dalimova, D, Sabitov, Z, Sultana, G N N, Lachance, J, Tishkoff, S, Momynaliev, K, Isakova, J, Damba, L D, Gubina, M, Nymadawa, P, Evseeva, I, Atramentova, L & Utevska, O 2016, ' Genomic analyses inform on migration events during the peopling of Eurasia ', Nature, vol. 538, no. 7624, pp. 238-242 . https://doi.org/10.1038/nature19792Test
Pagani, L, Lawson, D J, Jagoda, E, Mörseburg, A, Eriksson, A, Mitt, M, Clemente, F, Hudjashov, G, Degiorgio, M, Saag, L, Wall, J D, Cardona, A, Mägi, R, Sayres, M A W, Kaewert, S, Inchley, C, Scheib, C L, Järve, M, Karmin, M, Jacobs, G S, Antao, T, Iliescu, F M, Kushniarevich, A, Ayub, Q, Tyler-Smith, C, Xue, Y, Yunusbayev, B, Tambets, K, Mallick, C B, Pocheshkhova, E, Andriadze, G, Muller, C, Westaway, M C, Lambert, D M, Zoraqi, G, Turdikulova, S, Dalimova, D, Sabitov, Z, Sultana, G N N, Lachance, J, Tishkoff, S, Momynaliev, K, Isakova, J, Damba, L D, Gubina, M, Nymadawa, P, Evseeva, I, Atramentova, L & Utevska, O & Ricaut, F X 2016, ' Genomic analyses inform on migration events during the peopling of Eurasia ', Nature, vol. 538, no. 7624, pp. 238-242 . https://doi.org/10.1038/nature19792Test
Nature, 2016, 538 (7624), pp.238-242. ⟨10.1038/nature19792⟩
Pagani, L, Lawson, D, Jagoda, E, Morseburg, A, Eriksson, A, Mitt, M, Kivisild, T & Metspalu, M 2016, ' Genomic analyses inform on migration events during the peopling of Eurasia ', Nature, vol. 538, no. 7624, pp. 238-242 . https://doi.org/10.1038/nature19792Test

مصطلحات موضوعية: 0301 basic medicine, History, Native Hawaiian or Other Pacific Islander, Biological anthropology, [SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, Population Dynamics, Datasets as Topic, Evolutionary biology, Balancing selection, Genome, genome, peopling, Eurasia, 0302 clinical medicine, Effective population size, History, Ancient, Neanderthals, Genetics, education.field_of_study, Multidisciplinary, Continental Population Groups, Human migration, Fossils, Medicine (all), Genomics, 3. Good health, Europe, Oceanic Ancestry Group, Human, Biotechnology, Estonia, Gene Flow, Genome evolution, Heterozygote, Asia, General Science & Technology, 1.1 Normal biological development and functioning, Human Migration, Population, Biology, Evolutionary genetics, Article, Ancient, Africa, Animals, Genetics, Population, Genome, Human, Humans, New Guinea, 03 medical and health sciences, education, business.industry, Human evolutionary genetics, Racial Groups, Human Genome, 030104 developmental biology, Generic health relevance, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0fcc58a945c52854c6ee4d03f004505Test
https://escholarship.org/uc/item/6568472dTest

المؤلفون: Elza Khusnutdinova, Sulev Kõks, Ranno Rätsep, Tanel Traks, Boris Latipov, V. L. Akhmetova, E. S. Galimova, Külli Kingo

المصدر: Journal of Dermatological Science

مصطلحات موضوعية: Male, Biochemistry, Russia, 0302 clinical medicine, Risk Factors, Odds Ratio, Child, Aged, 80 and over, Genetics, 0303 health sciences, education.field_of_study, Middle Aged, 3. Good health, Phenotype, Child, Preschool, Female, Adult, Adolescent, Population, Single-nucleotide polymorphism, Dermatology, Biology, Polymorphism, Single Nucleotide, Risk Assessment, Young Adult, 03 medical and health sciences, Psoriasis, medicine, Humans, SNP, Genetic Predisposition to Disease, education, Molecular Biology, Genotyping, Genetic Association Studies, Aged, 030304 developmental biology, Chi-Square Distribution, Interleukins, Haplotype, Case-control study, Receptors, Interleukin, Odds ratio, medicine.disease, Haplotypes, Genetic Loci, Case-Control Studies, Interferons, 030215 immunology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::171017c9fc384b517e88fffa636be458Test
https://doi.org/10.1016/j.jdermsci.2012.07.002Test

المؤلفون: Victoria V. Zhirkova, Lev A. Zhivotovsky, S. A. Fedorova, Elza Khusnutdinova, V. L. Akhmetova

المصدر: Molecular Biology. 45:221-228

مصطلحات موضوعية: Genetics, education.field_of_study, Genetic diversity, Phylogenetic tree, Population, Biophysics, Locus (genetics), Biology, Structural Biology, East europe, Allelic polymorphism, Microsatellite, education, Allele frequency, geographic locations

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::af1f9598054d72a60391f24d681466dfTest
https://doi.org/10.1134/s0026893311020221Test