المساهمون: Jiyon Yu, Yoon Jeong Choi, Sung-Hwan Choi, Han-Sung Jung, Ji Hyun Lee, Jung-Yul Cha

مصطلحات موضوعية: Adolescent, Adult, Bicuspid / surgery, Case-Control Studies, Duration of Therapy, Female, Gene Expression, Gene Frequency, Genetic Predisposition to Disease, Genotype, Haplotypes, Humans, Male, Membrane Proteins / genetics, Middle Aged, Orthodontics / methods, Osteopontin / genetics, Polymorphism, Single Nucleotide, RANK Ligand / genetics, Receptors, Purinergic P2X7 / genetics, Retrospective Studies, Transcriptome, Treatment Outcome, Wnt3A Protein / genetics

وصف الملف: application/pdf

العلاقة: SCIENTIFIC REPORTS; J02646; OAK-2021-07493; https://ir.ymlib.yonsei.ac.kr/handle/22282913/186828Test; T202104708; SCIENTIFIC REPORTS, Vol.11(1) : 15942, 2021-08

الإتاحة: https://doi.org/10.1038/s41598-021-94979-8Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/186828Test

المساهمون: Sang-Eun Jung, Seung Min Lim, Sae Rom Hong, Eun Hee Lee, Kyoung-Jin Shin, Hwan Young Lee, Shin, Kyoung Jin

مصطلحات موضوعية: Acetyltransferases/genetics, Adolescent, Adult, Aged, Aging/genetics, Blood Chemical Analysis, CpG Islands/genetics, DNA Methylation, Forensic Genetics, Genetic Markers, Genotyping Techniques/instrumentation, Humans, LIM-Homeodomain Proteins/genetics, Membrane Proteins/genetics, Metalloproteins/genetics, Middle Aged, Mouth Mucosa/chemistry, Muscle Proteins/genetics, Saliva/chemistry, Sequence Analysis, DNA, Sp Transcription Factors/genetics, Transcription Factors/genetics, Young Adult, Age, Blood, Buccal swab, DNA methylation, Methylation SNaPshot, Saliva

العلاقة: FORENSIC SCIENCE INTERNATIONAL-GENETICS; J00905; OAK-2019-01266; https://ir.ymlib.yonsei.ac.kr/handle/22282913/169896Test; https://www.sciencedirect.com/science/article/pii/S1872497318302382Test; T201901477; FORENSIC SCIENCE INTERNATIONAL-GENETICS, Vol.38 : 1-8, 2019; 62882

الإتاحة: https://doi.org/10.1016/j.fsigen.2018.09.010Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/169896Test
https://www.sciencedirect.com/science/article/pii/S1872497318302382Test

المؤلفون: Kilpeläinen, T.O., Bentley, A.R., Noordam, R., Sung, Y.J., Schwander, K., Winkler, T.W., Jakupović, H., Chasman, D.I., Manning, A., Ntalla, I., Aschard, H., Brown, M.R., de Las Fuentes, L., Franceschini, N., Guo, X., Vojinovic, D., Aslibekyan, S., Feitosa, M.F., Kho, M., Musani, S.K., Richard, M., Wang, H., Wang, Z., Bartz, T.M., Bielak, L.F., Campbell, A., Dorajoo, R., Fisher, V., Hartwig, F.P., Horimoto, ARVR, Li, C., Lohman, K.K., Marten, J., Sim, X., Smith, A.V., Tajuddin, S.M., Alver, M., Amini, M., Boissel, M., Chai, J.F., Chen, X., Divers, J., Evangelou, E., Gao, C., Graff, M., Harris, S.E., He, M., Hsu, F.C., Jackson, A.U., Zhao, J.H., Kraja, A.T., Kühnel, B., Laguzzi, F., Lyytikäinen, L.P., Nolte, I.M., Rauramaa, R., Riaz, M., Robino, A., Rueedi, R., Stringham, H.M., Takeuchi, F., van der Most, P.J., Varga, T.V., Verweij, N., Ware, E.B., Wen, W., Li, X., Yanek, L.R., Amin, N., Arnett, D.K., Boerwinkle, E., Brumat, M., Cade, B., Canouil, M., Chen, Y.I., Concas, M.P., Connell, J., de Mutsert, R., de Silva, H.J., de Vries, P.S., Demirkan, A., Ding, J., Eaton, C.B., Faul, J.D., Friedlander, Y., Gabriel, K.P., Ghanbari, M., Giulianini, F., Gu, C.C., Gu, D., Harris, T.B., He, J., Heikkinen, S., Heng, C.K., Hunt, S.C., Ikram, M.A., Jonas, J.B., Koh, W.P., Komulainen, P., Krieger, J.E., Kritchevsky, S.B., Kutalik, Z., Kuusisto, J., Langefeld, C.D., Langenberg, C., Launer, L.J., Leander, K., Lemaitre, R.N., Lewis, C.E., Liang, J., Liu, J., Mägi, R., Manichaikul, A., Meitinger, T., Metspalu, A., Milaneschi, Y., Mohlke, K.L., Mosley, T.H., Murray, A.D., Nalls, M.A., Nang, E.K., Nelson, C.P., Nona, S., Norris, J.M., Nwuba, C.V., O'Connell, J., Palmer, N.D., Papanicolau, G.J., Pazoki, R., Pedersen, N.L., Peters, A., Peyser, P.A., Polasek, O., Porteous, D.J., Poveda, A., Raitakari, O.T., Rich, S.S., Risch, N., Robinson, J.G., Rose, L.M., Rudan, I., Schreiner, P.J., Scott, R.A., Sidney, S.S., Sims, M., Smith, J.A., Snieder, H., Sofer, T., Starr, J.M., Sternfeld, B., Strauch, K., Tang, H., Taylor, K.D., Tsai, M.Y., Tuomilehto, J., Uitterlinden, A.G., van der Ende, M.Y., van Heemst, D., Voortman, T., Waldenberger, M., Wennberg, P., Wilson, G., Xiang, Y.B., Yao, J., Yu, C., Yuan, J.M., Zhao, W., Zonderman, A.B., Becker, D.M., Boehnke, M., Bowden, D.W., de Faire, U., Deary, I.J., Elliott, P., Esko, T., Freedman, B.I., Froguel, P., Gasparini, P., Gieger, C., Kato, N., Laakso, M., Lakka, T.A., Lehtimäki, T., Magnusson, PKE, Oldehinkel, A.J., Penninx, BWJH, Samani, N.J., Shu, X.O., van der Harst, P., Van Vliet-Ostaptchouk, J.V., Vollenweider, P., Wagenknecht, L.E., Wang, Y.X., Wareham, N.J., Weir, D.R., Wu, T., Zheng, W., Zhu, X., Evans, M.K., Franks, P.W., Gudnason, V., Hayward, C., Horta, B.L., Kelly, T.N., Liu, Y., North, K.E., Pereira, A.C., Ridker, P.M., Tai, E.S., van Dam, R.M., Fox, E.R., Kardia, SLR, Liu, C.T., Mook-Kanamori, D.O., Province, M.A., Redline, S., van Duijn, C.M., Rotter, J.I., Kooperberg, C.B., Gauderman, W.J., Psaty, B.M., Rice, K., Munroe, P.B., Fornage, M., Cupples, L.A., Rotimi, C.N., Morrison, A.C., Rao, D.C., Loos, RJF

المساهمون: Lifelines Cohort Study, Alizadeh, B.Z., Boezen, H.M., Franke, L., Navis, G., Rots, M., Swertz, M., Wolffenbuttel, BHR, Wijmenga, C.

المصدر: Nature communications, vol. 10, no. 1, pp. 376

مصطلحات موضوعية: Adolescent, Adult, African Continental Ancestry Group/genetics, Aged, 80 and over, Asian Continental Ancestry Group/genetics, Brazil, Calcium-Binding Proteins/genetics, Cholesterol/blood, Cholesterol, HDL/blood, HDL/genetics, LDL/blood, LDL/genetics, European Continental Ancestry Group/genetics, Exercise, Female, Genetic Loci/genetics, Genome-Wide Association Study, Genotype, Hispanic Americans/genetics, Humans, LIM-Homeodomain Proteins/genetics, Lipid Metabolism/genetics, Lipids/blood, Lipids/genetics, Male, Membrane Proteins/genetics, Microtubule-Associated Proteins/genetics, Middle Aged

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30670697; info:eu-repo/semantics/altIdentifier/eissn/2041-1723; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_1B8EF42248BA4; https://serval.unil.ch/notice/serval:BIB_1B8EF42248BATest; urn:issn:2041-1723; https://serval.unil.ch/resource/serval:BIB_1B8EF42248BA.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_1B8EF42248BA4Test

الإتاحة: https://doi.org/10.1038/s41467-018-08008-wTest
https://serval.unil.ch/notice/serval:BIB_1B8EF42248BATest
https://serval.unil.ch/resource/serval:BIB_1B8EF42248BA.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_1B8EF42248BA4Test

المساهمون: College of Medicine, Dept. of Otorhinolaryngology, Hye Ji Choi, Joon Suk Lee, Seyoung Yu, Do Hyeon Cha, Heon Yung Gee, Jae Young Choi, Jong Dae Lee, Jinsei Jung, Jung, Jinsei, Gee, Heon Yung, Choi, Jae Young

مصطلحات موضوعية: Adolescent, Asian Continental Ancestry Group/genetics, Audiometry, Deafness/genetics, Female, Hearing Loss, Bilateral/genetics, Humans, Male, Membrane Proteins/genetics, Middle Aged, Mutation, Missense/genetics, Republic of Korea, Temporal Bone/diagnostic imaging, Tomography, X-Ray Computed, Whole Exome Sequencing, Autosomal dominant, Low-frequency hearing loss, Nonsyndromic hearing loss, WFS1

العلاقة: BMC MEDICAL GENETICS; J00361; OAK-2017-07528; https://ir.ymlib.yonsei.ac.kr/handle/22282913/161633Test; T201705347; BMC MEDICAL GENETICS, Vol.18(1) : 151, 2017

الإتاحة: https://doi.org/10.1186/s12881-017-0511-7Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/161633Test

المساهمون: College of Medicine, Dept. of Pharmacology, Carolin E. Sadowski, Svjetlana Lovric, Shazia Ashraf, Werner L. Pabst, Heon Yung Gee, Stefan Kohl, Susanne Engelmann, Virginia Vega-Warner, Humphrey Fang, Jan Halbritter, Michael J. Somers, Weizhen Tan, Shirlee Shril, In챔s Fessi, Richard P. Lifton, Detlef Bockenhauer, Sherif El-Desoky, Jameela A. Kari, Martin Zenker, Markus J. Kemper, Dominik Mueller, Hanan M. Fathy, Neveen A. Soliman, Friedhelm Hildebrandt, Gee, Heon Yung

مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Child, Preschool, Cohort Studies, Female, Genes, Wilms Tumor, Genetic Association Studies, Genetic Predisposition to Disease/epidemiology, Genotype, Heterozygote, Humans, Incidence, Infant, Intracellular Signaling Peptides and Proteins/genetics, Male, Membrane Proteins/genetics, Middle Aged, Mutation, Nephrotic Syndrome/congenital, Nephrotic Syndrome/epidemiology, Nephrotic Syndrome/genetics, Nephrotic Syndrome/physiopathology, Pedigree, Phenotype, Real-Time Polymerase Chain Reaction, Retrospective Studies, Risk Assessment

العلاقة: JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY; J01779; OAK-2015-05412; https://ir.ymlib.yonsei.ac.kr/handle/22282913/156712Test; http://jasn.asnjournals.org/content/26/6/1279.abstractTest; T201504426; JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, Vol.26(6) : 1279-1289, 2015

الإتاحة: https://doi.org/10.1681/ASN.2014050489Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/156712Test
http://jasn.asnjournals.org/content/26/6/1279.abstractTest

المؤلفون: Petersen, J.A., Kuntzer, T., Fischer, D., von der Hagen, M., Huebner, A., Kana, V., Lobrinus, J.A., Kress, W., Rushing, E.J., Sinnreich, M., Jung, H.H.

المصدر: Bmc Neurology, vol. 15, no. 1, pp. 182

مصطلحات موضوعية: Adolescent, Adult, Female, Founder Effect, Heterozygote, Homozygote, Humans, Male, Membrane Proteins/genetics, Middle Aged, Muscle Proteins/genetics, Muscular Dystrophies, Limb-Girdle/genetics, Mutation, Phenotype, Switzerland, Young Adult

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26444858; info:eu-repo/semantics/altIdentifier/eissn/1471-2377; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_5DFF23E46ADD9; https://serval.unil.ch/notice/serval:BIB_5DFF23E46ADDTest; urn:issn:1471-2377; https://serval.unil.ch/resource/serval:BIB_5DFF23E46ADD.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5DFF23E46ADD9Test

الإتاحة: https://doi.org/10.1186/s12883-015-0449-3Test
https://serval.unil.ch/notice/serval:BIB_5DFF23E46ADDTest
https://serval.unil.ch/resource/serval:BIB_5DFF23E46ADD.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5DFF23E46ADD9Test

المؤلفون: Hibar, Derrek P., Stein, Jason L., Renteria, Miguel E., Arias-Vasquez, Alejandro, Desrivieres, Sylvane, Jahanshad, Neda, Toro, Roberto, Wittfeld, Katharina, Abramovic, Lucija, Andersson, Micael, Aribisala, Benjamin S., Armstrong, Nicola J., Bernard, Manon, Bohlken, Marc M., Boks, Marco P., Bralten, Janita, Brown, Andrew A., Chakravarty, M. Mallar, Chen, Qiang, Ching, Christopher R. K., Cuellar-Partida, Gabriel, den Braber, Anouk, Giddaluru, Sudheer, Goldman, Aaron L., Grimm, Oliver, Guadalupe, Tulio, Hass, Johanna, Woldehawariat, Girma, Holmes, Avram J., Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H., Olde Loohuis, Loes M., Luciano, Michelle, Macare, Christine, Mather, Karen A., Mattheisen, Manuel, Milaneschi, Yuri, Nho, Kwangsik, Papmeyer, Martina, Ramasamy, Adaikalavan, Risacher, Shannon L., Roiz-Santianez, Roberto, Rose, Emma J., Salami, Alireza, Samann, Philipp G., Schmaal, Lianne, Schork, Andrew J., Shin, Jean, Strike, Lachlan T., Teumer, Alexander, van Donkelaar, Marjolein M. J., van Eijk, Kristel R., Walters, Raymond K., Westlye, Lars T., Whelan, Christopher D., Winkler, Anderson, Zwiers, Marcel P., Alhusaini, Saud, Athanasiu, Lavinia, Ehrlich, Stefan, Hakobjan, Marina M. H., Hartberg, Cecilie B., Haukvik, Unn K., Heister, Angelien J. G. A. M., Hoehn, David, Kasperaviciute, Dalia, Liewald, David C. M., Lopez, Lorna M., Makkinje, Remco R. R., Matarin, Mar, Naber, Marlies A. M., McKay, D. Reese, Needham, Margaret, Nugent, Allison C., Putz, Benno, Royle, Natalie A., Shen, Li, Sprooten, Emma, Trabzuni, Daniah, van der Marel, Saskia S. L., van Hulzen, Kimm J. E., Walton, Esther, Wolf, Christiane, Almasy, Laura, Ames, David, Arepalli, Sampath, Assareh, Amelia A., Bastin, Mark E., Brodaty, Henry, Bulayeva, Kazima B., Carless, Melanie A., Cichon, Sven, Corvin, Aiden, Curran, Joanne E., Czisch, Michael, de Zubicaray, Greig I., Dillman, Allissa, Duggirala, Ravi, Dyer, Thomas D., Erk, Susanne, Fedko, Iryna O., Ferrucci, Luigi, Foroud, Tatiana M., Fox, Peter T., Fukunaga, Masaki, Gibbs, J. Raphael, Goring, Harald H. H., Green, Robert C., Guelfi, Sebastian, Hansell, Narelle K., Hartman, Catharina A., Hegenscheid, Katrin, Heinz, Andreas, Hernandez, Dena G., Heslenfeld, Dirk J., Hoekstra, Pieter J., Holsboer, Florian, Homuth, Georg, Hottenga, Jouke-Jan, Ikeda, Masashi, Jack, Clifford R. Jr, Jenkinson, Mark, Johnson, Robert, Kanai, Ryota, Keil, Maria, Kent, Jack W. Jr, Kochunov, Peter, Kwok, John B., Lawrie, Stephen M., Liu, Xinmin, Longo, Dan L., McMahon, Katie L., Meisenzahl, Eva, Melle, Ingrid, Mohnke, Sebastian, Montgomery, Grant W., Mostert, Jeanette C., Muhleisen, Thomas W., Nalls, Michael A., Nichols, Thomas E., Nilsson, Lars G., Nothen, Markus M., Ohi, Kazutaka, Olvera, Rene L., Perez-Iglesias, Rocio, Pike, G. Bruce, Potkin, Steven G., Reinvang, Ivar, Reppermund, Simone, Rietschel, Marcella, Romanczuk-Seiferth, Nina, Rosen, Glenn D., Rujescu, Dan, Schnell, Knut, Schofield, Peter R., Smith, Colin, Steen, Vidar M., Sussmann, Jessika E., Thalamuthu, Anbupalam, Toga, Arthur W., Traynor, Bryan J., Troncoso, Juan, Turner, Jessica A., Valdes Hernandez, Maria C., van 't Ent, Dennis, van der Brug, Marcel, van der Wee, Nic J. A., van Tol, Marie-Jose, Veltman, Dick J., Wassink, Thomas H., Westman, Eric, Zielke, Ronald H., Zonderman, Alan B., Ashbrook, David G., Hager, Reinmar, Lu, Lu, McMahon, Francis J., Morris, Derek W., Williams, Robert W., Brunner, Han G., Buckner, Randy L., Buitelaar, Jan K., Cahn, Wiepke, Calhoun, Vince D., Cavalleri, Gianpiero L., Crespo-Facorro, Benedicto, Dale, Anders M., Davies, Gareth E., Delanty, Norman, Depondt, Chantal, Djurovic, Srdjan, Drevets, Wayne C., Espeseth, Thomas, Gollub, Randy L., Ho, Beng-Choon, Hoffmann, Wolfgang, Hosten, Norbert, Kahn, Rene S., Le Hellard, Stephanie, Meyer-Lindenberg, Andreas, Muller-Myhsok, Bertram, Nauck, Matthias, Nyberg, Lars, Pandolfo, Massimo, Penninx, Brenda W. J. H., Roffman, Joshua L., Sisodiya, Sanjay M., Smoller, Jordan W., van Bokhoven, Hans, van Haren, Neeltje E. M., Volzke, Henry, Walter, Henrik, Weiner, Michael W., Wen, Wei, White, Tonya, Agartz, Ingrid, Andreassen, Ole A., Blangero, John, Boomsma, Dorret I., Brouwer, Rachel M., Cannon, Dara M., Cookson, Mark R., de Geus, Eco J. C., Deary, Ian J., Donohoe, Gary, Fernandez, Guillen, Fisher, Simon E., Francks, Clyde, Glahn, David C., Grabe, Hans J., Gruber, Oliver, Hardy, John, Hashimoto, Ryota, Hulshoff Pol, Hilleke E., Jonsson, Erik G., Kloszewska, Iwona, Lovestone, Simon, Mattay, Venkata S., Mecocci, Patrizia, McDonald, Colm, McIntosh, Andrew M., Ophoff, Roel A., Paus, Tomas, Pausova, Zdenka, Ryten, Mina, Sachdev, Perminder S., Saykin, Andrew J., Simmons, Andy, Singleton, Andrew, Soininen, Hilkka, Wardlaw, Joanna M., Weale, Michael E., Weinberger, Daniel R., Adams, Hieab H. H., Launer, Lenore J., Seiler, Stephan, Schmidt, Reinhold, Chauhan, Ganesh, Satizabal, Claudia L., Becker, James T., Yanek, Lisa, van der Lee, Sven J., Ebling, Maritza, Fischl, Bruce, Longstreth, W. T. Jr, Greve, Douglas, Schmidt, Helena, Nyquist, Paul, Vinke, Louis N., van Duijn, Cornelia M., Xue, Luting, Mazoyer, Bernard, Bis, Joshua C., Gudnason, Vilmundur, Seshadri, Sudha, Ikram, M. Arfan, Martin, Nicholas G., Wright, Margaret J., Schumann, Gunter, Franke, Barbara, Thompson, Paul M., Medland, Sarah E.

المصدر: Nature, 520 (7546), 224-9 (2015)

مصطلحات موضوعية: Adolescent, Adult, Aged, 80 and over, Aging/genetics, Apoptosis/genetics, Brain/anatomy & histology, Caudate Nucleus/anatomy & histology, Child, Female, Gene Expression Regulation, Developmental/genetics, Genetic Loci/genetics, Genetic Variation/genetics, Genome-Wide Association Study, Hippocampus/anatomy & histology, Humans, Magnetic Resonance Imaging, Male, Membrane Proteins/genetics, Middle Aged, Organ Size/genetics, Putamen/anatomy & histology, Sex Characteristics, Skull/anatomy & histology, Young Adult, Life sciences, Genetics & genetic processes, Social & behavioral sciences, psychology

العلاقة: urn:issn:0028-0836; urn:issn:1476-4687; https://orbi.uliege.be/handle/2268/210221Test; info:hdl:2268/210221; https://orbi.uliege.be/bitstream/2268/210221/1/nihms672777.pdfTest; scopus-id:2-s2.0-84926395609; info:pmid:25607358

الإتاحة: https://doi.org/10.1038/nature14101Test
https://orbi.uliege.be/handle/2268/210221Test
https://orbi.uliege.be/bitstream/2268/210221/1/nihms672777.pdfTest

المساهمون: Hyung Jun Park, Ji-Man Hong, Gyoung Im Suh, Ha Young Shin, Seung Min Kim, Il Nam Sunwoo, Bum Chun Suh, Young-Chul Choi, Kim, Seung Min, Park, Hyung Jun, Sunwoo, Il Nam, Shin, Ha Young, Choi, Young Chul, Hong, Ji Man

المصدر: T201201163.pdf

مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Creatine Kinase/blood, Distal Myopathies/pathology, Dysferlin, Female, Humans, Immunohistochemistry, Male, Membrane Proteins/genetics, Middle Aged, Muscle Proteins/genetics, Muscular Atrophy/pathology, Muscular Dystrophies, Limb-Girdle/diagnosis, Limb-Girdle/genetics, Limb-Girdle/pathology, Mutation, Phenotype, Republic of Korea, Tomography, X-Ray Computed, Young Adult, Limb-Girdle Muscular Dystrophy Type 2B, Miyoshi Myopathy, mmunohistochemistry

العلاقة: JOURNAL OF KOREAN MEDICAL SCIENCE; J01517; OAK-2012-00641; https://ir.ymlib.yonsei.ac.kr/handle/22282913/90887Test; T201201163; JOURNAL OF KOREAN MEDICAL SCIENCE, Vol.27(4) : 423-429, 2012

الإتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/90887Test

المؤلفون: Florian R. T., Kraft F., Leitao E., Kaya S., Klebe S., Magnin E., van Rootselaar A. -F., Buratti J., Kuhnel T., Schroder C., Giesselmann S., Tschernoster N., Altmueller J., Lamiral A., Keren B., Nava C., Bouteiller D., Forlani S., Jornea L., Kubica R., Ye T., Plassard D., Jost B., Meyer V., Deleuze J. -F., Delpu Y., Avarello M. D. M., Vijfhuizen L. S., Rudolf G., Hirsch E., Kroes T., Reif P. S., Rosenow F., Ganos C., Vidailhet M., Thivard L., Mathieu A., Bourgeron T., Kurth I., Rafehi H., Steenpass L., Horsthemke B., Berkovic S. F., Bisulli F., Brancati F., Canafoglia L., Casari G., Guerrini R., Ishiura H., Licchetta L., Mei D., Pippucci T., Sadleir L., Scheffer I. E., Striano P., Tinuper P., Tsuji S., Zara F., LeGuern E., Klein K. M., Labauge P., Bennett M. F., Bahlo M., Gecz J., Corbett M. A., Tijssen M. A. J., van den Maagdenberg A. M. J. M., Depienne C.

المساهمون: Florian, R. T., Kraft, F., Leitao, E., Kaya, S., Klebe, S., Magnin, E., van Rootselaar, A. -F., Buratti, J., Kuhnel, T., Schroder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., Lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L., Kubica, R., Ye, T., Plassard, D., Jost, B., Meyer, V., Deleuze, J. -F., Delpu, Y., Avarello, M. D. M., Vijfhuizen, L. S., Rudolf, G., Hirsch, E., Kroes, T., Reif, P. S., Rosenow, F., Ganos, C., Vidailhet, M., Thivard, L., Mathieu, A., Bourgeron, T., Kurth, I., Rafehi, H., Steenpass, L., Horsthemke, B., Berkovic, S. F., Bisulli, F., Brancati, F., Canafoglia, L., Casari, G., Guerrini, R., Ishiura, H., Licchetta, L., Mei, D., Pippucci, T., Sadleir, L., Scheffer, I. E., Striano, P., Tinuper, P., Tsuji, S., Zara, F., Leguern, E., Klein, K. M., Labauge, P., Bennett, M. F., Bahlo, M., Gecz, J., Corbett, M. A., Tijssen, M. A. J., van den Maagdenberg, A. M. J. M., Depienne, C., Institute of Human Genetics - Institut für Humangenetik [Essen], Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen)-Universitat Duisberg-Essen, Rheinisch-Westfälische Technische Hochschule Aachen University (RWTH), Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen), Universität Duisburg-Essen = University of Duisburg-Essen [Essen], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Academic Medical Center - Academisch Medisch Centrum [Amsterdam] (AMC), University of Amsterdam [Amsterdam] (UvA), Amsterdam Neuroscience [Pays-Bas], Vrije Universiteit Amsterdam [Amsterdam] (VU)-University of Amsterdam [Amsterdam] (UvA)-VU University Medical Center [Amsterdam], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre for Molecular Medicine Cologne [Cologne] (CMMC), University Hospital of Cologne [Cologne], Cologne Center for Genomics [Cologne] (CCG), University of Cologne, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), genomic vision, Leiden University Medical Center (LUMC), Universiteit Leiden, Centre de référence des épilepsies rares [CHRU Strasbourg] (CRéER), Centre Hospitalier Régional Universitaire de Strasbourg (CHRU de Strasbourg), Service de Neurologie [Strasbourg], CHU Strasbourg-Hopital Civil, School of Biological Sciences [Adelaïde], University of Adelaide, Goethe-University Frankfurt am Main, Philipps Universität Marburg = Philipps University of Marburg, Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), The Walter and Eliza Hall Institute of Medical Research (WEHI), University of Melbourne, Epilepsy Research Centre, University of Calgary, Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), South Australian Health and Medical Research Institute [ Adelaide] (SAHMRI), University Medical Center Groningen [Groningen] (UMCG), This study has been financially supported by three different grants from the Fondation Maladies rares to C.D. (2009, 2010, 2016), Assistance Publique des Hôpitaux de Paris (APHP), INSERM, the 'Investissements d’Avenir' programme ANR-10-IAIHU-06 (IHU-A-ICM), University Duisburg-Essen and University Hospital Essen. M.B. was supported by an Australian National Health and Medical Research Council (NHMRC) Program Grant (GNT1054618) and an NHMRC Senior Research Fellowship (GNT1102971). This work was also supported by the Victorian Government’s Operational Infrastructure Support Program and the NHMRC Independent Research Institute Infrastructure Support Scheme (IRIISS). Laura Canafoglia: Member of the European Reference Network on Rare and Complex epilepsies, ERN EpiCARE., We thank the families for their participation in this study, Agnès Rastetter (ICM, Paris, France) for RNA extraction, and Emmanuelle Apartis (Hôpital Saint-Antoine, Paris, France) for electrophysiological assessment of Family 1. DNA extraction and cell culture of lymphoblasts have been performed at the DNA and cell bank of ICM (Paris, France). RNA-seq has been performed on the GenomEast platform of IGBMC, Illkirch, France. WGS has been performed by the Centre National de Recherche en Génomique Humaine (CNRGH) Institut de Biologie François Jacob, Evry, France. We thank Jean-Louis Mandel and Nicolas Charlet-Berguerand (IGBMC, Strasbourg, France), Cécile Cazeneuve (Hôpital Pitié-Salpêtrière, Paris, France), Charles Marcaillou (Integragen, Evry, France) and Isabel Silveira (Porto, Portugal) for valuable discussions., FAME consortium : Berkovic SF, Bisulli F, Brancati F, Canafoglia L, Casari G, Guerrini R, Ishiura H, Licchetta L, Mei D, Pippucci T, Sadleir L, Scheffer IE, Striano P, Tinuper P, Tsuji S, Zara F., Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre National de Recherche en Génomique Humaine (CNRGH), Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), RWTH Aachen University, Universität Duisburg-Essen [Essen], Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Philipps University of Marburg, Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris]-Université de Paris (UP), Hôpital Gui de Chauliac, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Rahel T. Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean-François Deleuze, Yannick Delpu, Mario D.M. Avarello, Lisanne S. Vijfhuizen, Gabrielle Rudolf, Edouard Hirsch, Thessa Kroes, Philipp S. Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpass, Bernhard Horsthemke, FAME consortium, Eric LeGuern, Karl Martin Klein, Pierre Labauge, Mark F. Bennett, Melanie Bahlo, Jozef Gecz, Mark A. Corbett, Marina A.J. Tijssen, Arn M.J.M. van den Maagdenberg, Christel Depienne, Francesca Bisulli, Laura Licchetta, Paolo Tinuper, MATHIEU, Alexandre, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP)

المصدر: Nature Communications
Nature Communications, 2019, 10 (1), pp.4919. ⟨10.1038/s41467-019-12763-9⟩
Nature Communications, Nature Publishing Group, 2019, 10 (1), pp.4919. ⟨10.1038/s41467-019-12763-9⟩
Nature Communications 10, 4919 (2019). doi:10.1038/s41467-019-12763-9

مصطلحات موضوعية: Male, MESH: Introns, [SDV]Life Sciences [q-bio], Medizin, MESH: DNA Repeat Expansion, Epilepsies, Myoclonic, [SDV.GEN] Life Sciences [q-bio]/Genetics, MARCH6, expansion, MESH: Ubiquitin-Protein Ligases/genetics, MESH: Aged, MESH: Middle Aged, DNA Repeat Expansion, Neurodegenerative diseases, MESH: Epilepsies, Myoclonic, Chromosome Mapping, Middle Aged, MESH: Epilepsies, Myoclonic/genetics, Pedigree, MESH: Young Adult, Female, ddc:500, MESH: Membrane Proteins, Technology Platforms, Genomic instability, Adult, Adolescent, MESH: Pedigree, Ubiquitin-Protein Ligases, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Familial Adult Myoclonic Epilepsy type 3, Article, Young Adult, Humans, Aged, MESH: Adolescent, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, Epilepsy, Membrane Proteins, MESH: Adult, MESH: Membrane Proteins/genetics, MESH: Ubiquitin-Protein Ligases, MESH: Male, Introns, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: Chromosome Mapping, MESH: Female, Neurological disorders

وصف الملف: application/pdf; ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ec2c892a3045ae0244d68ba44823587aTest
http://edoc.mdc-berlin.de/20584/2/20584suppl.zipTest

المساهمون: Borum Suh, Il Kwon Bae, Juwon Kim, Seok Hoon Jeong, Dongeun Yong, Kyungwon Lee, Kim, Ju Won, Bae, Il Kwon, Yong, Dong Eun, Lee, Kyung Won, Jeong, Seok Hoon

المصدر: T201005831.pdf

مصطلحات موضوعية: Adolescent, Adult, Aged, Anti-Bacterial Agents/pharmacology, Anti-Bacterial Agents/therapeutic use, Bacterial Outer Membrane Proteins/genetics, Bacterial Outer Membrane Proteins/metabolism, Bacterial Proteins/genetics, Bacterial Proteins/metabolism, Blotting, Southern, Drug Resistance, Bacterial*/genetics, Female, Humans, Male, Microbial Sensitivity Tests, Middle Aged, Molecular Sequence Data, Polymerase Chain Reaction, Porins/genetics, Porins/metabolism, Reverse Transcriptase Polymerase Chain Reaction, Serratia Infections/drug therapy, Serratia Infections/microbiology, Serratia marcescens/drug effects, Serratia marcescens/genetics, Thienamycins*/pharmacology, Young Adult, beta-Lactamases/genetics

وصف الملف: 5057~5061

العلاقة: ANTIMICROBIAL AGENTS AND CHEMOTHERAPY; J00189; OAK-2010-02815; https://ir.ymlib.yonsei.ac.kr/handle/22282913/103215Test; T201005831; ANTIMICROBIAL AGENTS AND CHEMOTHERAPY, Vol.54(12) : 5057-5061, 2010

الإتاحة: https://doi.org/10.1128/AAC.00768-10Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/103215Test