المؤلفون: Karayol, Remzi, Borroto, Maria, Haghshenas, Sadegheh, Namasivayam, Anoja, Reilly, Jack, Levy, Michael, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Shvedunova, Maria, Petersen, Andrea, Magnussen, Kari, Zweier, Christiane, Vasileiou, Georgia, Reis, André, Savatt, Juliann, Mulligan, Meghan, Bicknell, Louise, Poke, Gemma, Abu-El-Haija, Aya, Duis, Jessica, Hannig, Vickie, Srivastava, Siddharth, Barkoudah, Elizabeth, Hauser, Natalie, van den Born, Myrthe, Hamiel, Uri, Henig, Noa, Baris Feldman, Hagit, McKee, Shane, Krapels, Ingrid, Lei, Yunping, Todorova, Albena, Yordanova, Ralitsa, Atemin, Slavena, Rogac, Mihael, McConnell, Vivienne, Chassevent, Anna, Barañano, Kristin, Shashi, Vandana, Sullivan, Jennifer, Peron, Angela, Iascone, Maria, Canevini, Maria, Friedman, Jennifer, Reyes, Iris, Kierstein, Janell, Shen, Joseph, Ahmed, Faria, Mao, Xiao, Almoguera, Berta, Blanco-Kelly, Fiona, Platzer, Konrad, Treu, Ariana-Berenike, Quilichini, Juliette, Bourgois, Alexia, Chatron, Nicolas, Januel, Louis, Rougeot, Christelle, Carere, Deanna, Monaghan, Kristin, Rousseau, Justine, Myers, Kenneth, Sadikovic, Bekim, Akhtar, Asifa, Campeau, Philippe

المصدر: American Journal of Human Genetics. 111(7)

مصطلحات موضوعية: MSL2, autism, connective tissue, epigenetics, epilepsy, episignature, iPSC, male-specific lethal complex, neurodevelopmental syndrome, Adolescent, Child, Child, Preschool, Female, Humans, Male, Developmental Disabilities, DNA Methylation, Epigenesis, Genetic, Epilepsy, Histones, Induced Pluripotent Stem Cells, Intellectual Disability, Neurodevelopmental Disorders, Phenotype, Ubiquitin-Protein Ligases

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4qw4q94w
https://escholarship.org/content/qt4qw4q94w/qt4qw4q94w.pdf

المؤلفون: Jan Fischer, Mariëlle Alders, Marcel M. A. M. Mannens, David Genevieve, Karl Hackmann, Evelin Schröck, Bekim Sadikovic, Joseph Porrmann

المصدر: Clinical Epigenetics, Vol 17, Iss 1, Pp 1-6 (2025)

مصطلحات موضوعية: CDK13, CHDFIDD, Developmental delay, Episignature, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1868-7083

URL الوصول: https://doaj.org/article/a5fedb9c64cf4918b4a228501c828bec

المؤلفون: Gleyson Francisco da Silva Carvalho, Claudio Melo de Gusmão, Beatriz Martins Wolff, Lucas Liro Vieira, Yanca Gasparini de Oliveira, Mariana Ribeiro Costa, Rafaela da Silva Mendes, Matheus Augusto Araujo Castro, Mayara T. Sakuma, Fernando Kok, Bekim Sadikovic, Leslie Domenici Kulikowski

المصدر: Clinical Epigenetics, Vol 16, Iss 1, Pp 1-6 (2024)

مصطلحات موضوعية: KMT2B, Methylation, Episignature, VUS, Dystonia, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1868-7083

URL الوصول: https://doaj.org/article/e38394b069fe409d83aec71fa3b2331e

المؤلفون: Liselot van der Laan, Ananília Silva, Lotte Kleinendorst, Kathleen Rooney, Sadegheh Haghshenas, Peter Lauffer, Yasemin Alanay, Pratibha Bhai, Alfredo Brusco, Sonja de Munnik, Bert B.A. de Vries, Angelica Delgado Vega, Marc Engelen, Johanna C. Herkert, Ron Hochstenbach, Saskia Hopman, Sarina G. Kant, Ryutaro Kira, Mitsuhiro Kato, Boris Keren, Hester Y. Kroes, Michael A. Levy, Ngu Lock-Hock, Saskia M. Maas, Grazia M.S. Mancini, Carlo Marcelis, Naomichi Matsumoto, Takeshi Mizuguchi, Alessandro Mussa, Cyril Mignot, Anu Närhi, Ann Nordgren, Rolph Pfundt, Abeltje M. Polstra, Slavica Trajkova, Yolande van Bever, Marie José van den Boogaard, Jasper J. van der Smagt, Tahsin Stefan Barakat, Mariëlle Alders, Marcel M.A.M. Mannens, Bekim Sadikovic, Mieke M. van Haelst, Peter Henneman

المصدر: HGG Advances, Vol 6, Iss 1, Pp 100380- (2025)

مصطلحات موضوعية: CUL3, intellectual disability, DNA methylation, episignature, NEDAUS, genotype-phenotype correlation, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247724001209; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/4d2c1e6771da43cd9a0c73ae48b1b4d3

المؤلفون: van der Laan, Liselot, Silva, Ananília, Kleinendorst, Lotte, Rooney, Kathleen, Haghshenas, Sadegheh, Lauffer, Peter, Alanay, Yasemin, Bhai, Pratibha, Brusco, Alfredo, de Munnik, Sonja, de Vries, Bert B.A., Vega, Angelica Delgado, Engelen, Marc, Herkert, Johanna C., Hochstenbach, Ron, Hopman, Saskia, Kant, Sarina G., Kira, Ryutaro, Kato, Mitsuhiro, Keren, Boris, Kroes, Hester Y., Levy, Michael A., Lock-Hock, Ngu, Maas, Saskia M., Mancini, Grazia M.S., Marcelis, Carlo, Matsumoto, Naomichi, Mizuguchi, Takeshi, Mussa, Alessandro, Mignot, Cyril, Närhi, Anu, Nordgren, Ann, Pfundt, Rolph, Polstra, Abeltje M., Trajkova, Slavica, van Bever, Yolande, José van den Boogaard, Marie, van der Smagt, Jasper J., Barakat, Tahsin Stefan, Alders, Mariëlle, Mannens, Marcel M.A.M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter

المساهمون: HUSLAB, Department of Medical and Clinical Genetics, HUS Helsinki and Uusimaa Hospital District

مصطلحات موضوعية: CUL3, DNA methylation, episignature, genotype-phenotype correlation, intellectual disability, NEDAUS, Biomedicine, Genetics, developmental biology, physiology

وصف الملف: application/pdf

Relation: We would like to thank the participants described in this study. Funding for this study was provided in part by the Government of Canada through Genome Canada and the Ontario Genomics Institute (OGI-188) . L.v.d.L. received the AR&D Travel Grant from Amsterdam UMC, which provided financial support for this work. T.S.B. was supported by the Netherlands Organisation for Scientific Research (ZonMw Vidi, grant 09150172110002) and acknowledges ongoing support from EpilepsieNL and CURE Epilepsy. N.M. and T.M. were supported by the Takeda Science Foundation, with additional support for T.M. from JSPS KAKENHI under grant nos. JP23K27568 and JP23K18278.; http://hdl.handle.net/10138/588621; 85209580203; 001364279900001

الاتاحة: http://hdl.handle.net/10138/588621

المؤلفون: Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Levy, Michael A., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A., Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F., Galazzi, Elena, van Gils, Julien, Hurst, Anna C. E., Kaiser, Frank J., Lacombe, Didier, Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Persani, Luca, Simarro, Fernando Santos, Simpson, Brittany N., Alders, Mariëlle, Robertson, Stephen P., Sadikovic, Bekim, Menke, Leonie A.

المساهمون: S. Haghshena, H.J. Bout, J.M. Schijn, M.A. Levy, J. Kerkhof, P. Bhai, H. Mcconkey, Z.A. Jenkin, E.M. William, B.J. Halliday, S.A. Huisman, P. Lauffer, V. de Waard, L. Witteveen, S. Banka, A.F. Brady, E. Galazzi, J. van Gil, A.C.E. Hurst, F.J. Kaiser, D. Lacombe, A.F. Martinez-Monseny, P. Fergelot, F.P. Monteiro, I. Parenti, L. Persani, F.S. Simarro, B.N. Simpson, M. Alder, S.P. Robertson, B. Sadikovic, L.A. Menke

مصطلحات موضوعية: CBP, CREB-binding protein, CREBBP, DNA methylation, E1A-associated protein p300, EP300, ID4, MKHK, Menke-Hennekam syndrome, RSTS, Rubinstein-Taybi syndrome, TAZ2, ZZ, episignature, intellectual disability, intrinsically disordered linker, p300, zinc finger domain, Settore MED/13 - Endocrinologia, Settore MED/03 - Genetica Medica

Relation: info:eu-repo/semantics/altIdentifier/pmid/38553851; info:eu-repo/semantics/altIdentifier/wos/WOS:001233488300001; volume:5; issue:3; firstpage:1; lastpage:19; numberofpages:19; journal:HGG ADVANCES; https://hdl.handle.net/2434/1043590; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85190349831

الاتاحة: https://hdl.handle.net/2434/1043590
https://doi.org/10.1016/j.xhgg.2024.100287

المؤلفون: Karimi, Karim, Mol, Merel O., Haghshenas, Sadegheh, Relator, Raissa, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Brooks, Alice, Zonneveld-Huijssoon, Evelien, Gerkes, Erica H., Tedder, Matthew L., Vissers, Lisenka, Salzano, Emanuela, Piccione, Maria, Asaftei, Sebastian Dorin, Carli, Diana, Mussa, Alessandro, Shukarova-Angelovska, Elena, Trajkova, Slavica, Brusco, Alfredo, Merla, Giuseppe, Alders, Marielle M., Bouman, Arjan, Sadikovic, Bekim

المصدر: Karimi , K , Mol , M O , Haghshenas , S , Relator , R , Levy , M A , Kerkhof , J , McConkey , H , Brooks , A , Zonneveld-Huijssoon , E , Gerkes , E H , Tedder , M L , Vissers , L , Salzano , E , Piccione , M , Asaftei , S D , Carli , D , Mussa , A , Shukarova-Angelovska , E , Trajkova , S , Brusco , A , Merla , G , Alders , M M , Bouman , A & Sadikovic ....

مصطلحات موضوعية: CTCF, Developmental disorder, DNA methylation, Episignature, IDD21

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/750ffa59-fa75-4354-add7-4745d5353e0f
https://research.rug.nl/en/publications/750ffa59-fa75-4354-add7-4745d5353e0f
https://doi.org/10.1016/j.gim.2023.101041
https://pure.rug.nl/ws/files/930916570/Identification_of_DNA_methylation_episignature_for_the_intellectual_developmental_disorder_autosomal_dominant_21_syndrome_caused_by_variants_in_the_CTCF_gene.pdf
http://www.scopus.com/inward/record.url?scp=85182571710&partnerID=8YFLogxK

المؤلفون: O. A. Zemlianaia, A. V. Efremova, I. V. Volodin, D. V. Zaletaev, О. А. Земляная, А. В. Ефремова, И. В. Володин, Д. В. Залетаев

المساهمون: The research was carried out within the state assignment of Ministry of Science and Higher Education of the Russian Federation for RCMG., Работа выполнена в рамках государственного задания Минобрнауки России для ФГБНУ «МГНЦ» на 2024 год.

المصدر: Medical Genetics; Том 23, № 4 (2024); 3-15 ; Медицинская генетика; Том 23, № 4 (2024); 3-15 ; 2073-7998

مصطلحات موضوعية: эписигнатура, histone methylation, DNA methylation, episignature, метилирование гистонов, метилирование ДНК

وصف الملف: application/pdf

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الاتاحة: https://www.medgen-journal.ru/jour/article/view/2458
https://doi.org/10.25557/2073-7998.2024.04.3-15

المؤلفون: Breen, Michael S, Garg, Paras, Tang, Lara, Mendonca, Danielle, Levy, Tess, Barbosa, Mafalda, Arnett, Anne B, Kurtz-Nelson, Evangeline, Agolini, Emanuele, Battaglia, Agatino, Chiocchetti, Andreas G, Freitag, Christine M, Garcia-Alcon, Alicia, Grammatico, Paola, Hertz-Picciotto, Irva, Ludena-Rodriguez, Yunin, Moreno, Carmen, Novelli, Antonio, Parellada, Mara, Pascolini, Giulia, Tassone, Flora, Grice, Dorothy E, Di Marino, Daniele, Bernier, Raphael A, Kolevzon, Alexander, Sharp, Andrew J, Buxbaum, Joseph D, Siper, Paige M, De Rubeis, Silvia

المصدر: American Journal of Human Genetics. 107(3)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Mental Health, Pediatric, Human Genome, Brain Disorders, Behavioral and Social Science, Neurosciences, Autism, Intellectual and Developmental Disabilities (IDD), 2.1 Biological and endogenous factors, Neurological, Autism Spectrum Disorder, Child, DNA Methylation, Developmental Disabilities, Epigenesis, Genetic, Female, Homeodomain Proteins, Humans, Intellectual Disability, Male, Mutation, Nerve Tissue Proteins, Neurodevelopmental Disorders, Phenotype, Transcriptome, ADNP, DNA methylation, Helsmoortel-Van der Aa syndrome, autism spectrum disorder, biomarkers, epigenetic signature, episignature, genotype-phenotype correlations, intellectual disability, neurodevelopmental disorders, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6397x8vm
https://escholarship.org/content/qt6397x8vm/qt6397x8vm.pdf

المؤلفون: Man, Alice, Di Scipio, Matteo, McConkey, Haley, Hough, Rebecca, Stein, Nina, Diehl, Eric, Marshall, Christian R, Sadikovic, Bekim, Ejaz, Resham

المصدر: Am J Med Genet A ; ISSN:1552-4833 ; Volume:197 ; Issue:2

مصطلحات موضوعية: TET3, Beck–Fahrner syndrome, DNA methylation, coloboma, episignature

Relation: https://doi.org/10.1002/ajmg.a.63864; https://pubmed.ncbi.nlm.nih.gov/39324309

الاتاحة: https://doi.org/10.1002/ajmg.a.63864
https://pubmed.ncbi.nlm.nih.gov/39324309

المؤلفون: van der Laan, Liselot, Rooney, Kathleen, Alders, Mariëlle, Relator, Raissa, Mcconkey, Haley, Kerkhof, Jennifer, Levy, Michael, A, Lauffer, Peter, Aerden, Mio, Theunis, Miel, Legius, Eric, Tedder, Matthew, L, Vissers, Lisenka, E L M, Koene, Saskia, Ruivenkamp, Claudia, Hoffer, Mariette, J V, Wieczorek, Dagmar, Bramswig, Nuria, C, Herget, Theresia, González, Vanesa, López, Santos-Simarro, Fernando, Tørring, Pernille, M, Denomme-Pichon, Anne-Sophie, Isidor, Bertrand, Keren, Boris, Julia, Sophie, Schaefer, Elise, Francannet, Christine, Maillard, Pierre-Yves, Misra-Isrie, Mala, van Esch, Hilde, Mannens, Marcel, M a M, Sadikovic, Bekim, van Haelst, Mieke, M, Henneman, Peter

المساهمون: Amsterdam University Medical Centers (Amsterdam UMC), Western University London, ON, Canada, Amsterdam UMC - Amsterdam University Medical Center, Emma Children’s Hospital, Centre for Human Genetics, University Hospitals Leuven, Catholic University of Leuven, The Greenwood Genetic Center, Radboud University Medical Center Nijmegen, Department of Clinical Genetics (Leiden University Medical Center), Leiden University Medical Center (LUMC), Universiteit Leiden = Leiden University -Universiteit Leiden = Leiden University, Heinrich Heine Universität Düsseldorf = Heinrich Heine University Düsseldorf, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf Hamburg (UKE), Hospital Clínico Universitario Virgen de la Arrixaca = University Hospital Virgen de la Arrixaca Murcia, Hospital Universitario La Paz, Odense University Hospital (OUH), Unité fonctionnelle d' Innovation en Diagnostic Génomique des Maladies Rares (CHU Dijon) (UF6254), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de génétique médicale CHU Nantes, Centre hospitalier universitaire de Nantes (CHU Nantes), Sorbonne Université (SU), Centre d'Epidémiologie et de Recherche en santé des POPulations (CERPOP), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service Génétique Médicale CHU Toulouse, Institut Fédératif de Biologie (IFB), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Biologie CHU Toulouse, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de Génétique Médicale CHU Clermont-Ferrand, CHU Estaing Clermont-Ferrand, CHU Clermont-Ferrand-CHU Clermont-Ferrand, Institut Jérôme Lejeune

المصدر: ISSN: 1661-6596.

مصطلحات موضوعية: TRIP12, Clark–Baraitser syndrome, intellectual disability, DNA methylation, episignature, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: info:eu-repo/semantics/altIdentifier/pmid/36430143; hal-04098955; https://hal.science/hal-04098955; https://hal.science/hal-04098955/document; https://hal.science/hal-04098955/file/VanderLaan-2022.pdf; PUBMED: 36430143

الاتاحة: https://hal.science/hal-04098955
https://hal.science/hal-04098955/document
https://hal.science/hal-04098955/file/VanderLaan-2022.pdf
https://doi.org/10.3390/ijms232213664

المؤلفون: Rooney, Kathleen, van der Laan, Liselot, Trajkova, Slavica, Haghshenas, Sadegheh, Relator, Raissa, Lauffer, Peter, Vos, Niels, Levy, Michael A, Brunetti-Pierri, Nicola, Terrone, Gaetano, Mignot, Cyril, Keren, Boris, Billette de Villemeur, Thierry, Volker-Touw, Catharina M L, Verbeek, Nienke, van der Smagt, Jasper J, Oegema, Renske, Brusco, Alfredo, Ferrero, Giovanni Battista, Misra-Isrie, Mala, Hochstenbach, Ron, Alders, Mariëlle, Mannens, Marcel M A M, Sadikovic, Bekim, van Haelst, Mieke M, Henneman, Peter

المساهمون: Rooney, Kathleen, van der Laan, Liselot, Trajkova, Slavica, Haghshenas, Sadegheh, Relator, Raissa, Lauffer, Peter, Vos, Niel, Levy, Michael A, Brunetti-Pierri, Nicola, Terrone, Gaetano, Mignot, Cyril, Keren, Bori, Billette de Villemeur, Thierry, Volker-Touw, Catharina M L, Verbeek, Nienke, van der Smagt, Jasper J, Oegema, Renske, Brusco, Alfredo, Ferrero, Giovanni Battista, Misra-Isrie, Mala, Hochstenbach, Ron, Alders, Mariëlle, Mannens, Marcel M A M, Sadikovic, Bekim, van Haelst, Mieke M, Henneman, Peter

مصطلحات موضوعية: CNV, DNA methylation, Epigenetic, Epilepsy, Episignature, HNRNPU, Intellectual disability, Neurodevelopmental Disorder

Relation: info:eu-repo/semantics/altIdentifier/pmid/37120726; firstpage:100871; lastpage:100871; numberofpages:1; journal:GENETICS IN MEDICINE; https://hdl.handle.net/2318/1903993; https://www.gimjournal.org/article/S1098-3600(23)00884-5/pdf

الاتاحة: https://hdl.handle.net/2318/1903993
https://doi.org/10.1016/j.gim.2023.100871
https://www.gimjournal.org/article/S1098-3600(23)00884-5/pdf

المؤلفون: Hildonen, Mathis, Ferilli, Marco, Hjortshøj, Tina Duelund, Dunø, Morten, Risom, Lotte, Bak, Mads, Ek, Jakob, Møller, Rikke S, Ciolfi, Andrea, Tartaglia, Marco, Tümer, Zeynep

المساهمون: Hildonen, Mathi, Ferilli, Marco, Hjortshøj, Tina Duelund, Dunø, Morten, Risom, Lotte, Bak, Mad, Ek, Jakob, Møller, Rikke S, Ciolfi, Andrea, Tartaglia, Marco, Tümer, Zeynep

مصطلحات موضوعية: KMT2D, Kabuki syndrome, VUS classification, epigenetic, episignature, mendelian disorder, rare disorders

Relation: info:eu-repo/semantics/altIdentifier/pmid/36705342; info:eu-repo/semantics/altIdentifier/wos/WOS:000928656600001; volume:103; issue:6; firstpage:688; lastpage:692; numberofpages:5; journal:CLINICAL GENETICS; https://hdl.handle.net/11573/1667240; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85147499703

الاتاحة: https://hdl.handle.net/11573/1667240
https://doi.org/10.1111/cge.14304

المؤلفون: Pagliara, Daria, Ciolfi, Andrea, Pedace, Lucia, Haghshenas, Sadegheh, Ferilli, Marco, Levy, Michael A, Miele, Evelina, Nardini, Claudia, Cappelletti, Camilla, Relator, Raissa, Pitisci, Angela, De Vito, Rita, Pizzi, Simone, Kerkhof, Jennifer, McConkey, Haley, Nazio, Francesca, Kant, Sarina G, Di Donato, Maddalena, Agolini, Emanuele, Matraxia, Marta, Pasini, Barbara, Pelle, Alessandra, Galluccio, Tiziana, Novelli, Antonio, Barakat, Tahsin Stefan, Andreani, Marco, Rossi, Francesca, Mecucci, Cristina, Savoia, Anna, Sadikovic, Bekim, Locatelli, Franco, Tartaglia, Marco

المساهمون: Pagliara, Daria, Ciolfi, Andrea, Pedace, Lucia, Haghshenas, Sadegheh, Ferilli, Marco, Levy, Michael A, Miele, Evelina, Nardini, Claudia, Cappelletti, Camilla, Relator, Raissa, Pitisci, Angela, De Vito, Rita, Pizzi, Simone, Kerkhof, Jennifer, Mcconkey, Haley, Nazio, Francesca, Kant, Sarina G, Di Donato, Maddalena, Agolini, Emanuele, Matraxia, Marta, Pasini, Barbara, Pelle, Alessandra, Galluccio, Tiziana, Novelli, Antonio, Barakat, Tahsin Stefan, Andreani, Marco, Rossi, Francesca, Mecucci, Cristina, Savoia, Anna, Sadikovic, Bekim, Locatelli, Franco, Tartaglia, Marco

مصطلحات موضوعية: DNA methylation profiling, Fanconi anemia, classifier, diagnostic tool, episignature, gene conversion, hematological disorder, machine learning, mosaicism, variant classification

Relation: info:eu-repo/semantics/altIdentifier/pmid/37865086; info:eu-repo/semantics/altIdentifier/wos/WOS:001110012800001; volume:110; issue:11; firstpage:1938; lastpage:1949; numberofpages:12; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11573/1696213; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85175444113

الاتاحة: https://hdl.handle.net/11573/1696213
https://doi.org/10.1016/j.ajhg.2023.09.014

المؤلفون: Nenad Bukvic, Massimiliano Chetta, Rosanna Bagnulo, Valentina Leotta, Antonino Pantaleo, Orazio Palumbo, Pietro Palumbo, Maria Oro, Maria Rivieccio, Nicola Laforgia, Marta De Rinaldis, Alessandra Rosati, Jennifer Kerkhof, Bekim Sadikovic, Nicoletta Resta

المصدر: Genes; Volume 14; Issue 1; Pages: 165

مصطلحات موضوعية: KAT6A, Arboleda-Tham syndrome, clinical exome sequencing, methylation studies, episignature, SNP array

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes14010165

الاتاحة: https://doi.org/10.3390/genes14010165

المؤلفون: Liselot van der Laan, Kathleen Rooney, Sadegheh Haghshenas, Ananília Silva, Haley McConkey, Raissa Relator, Michael A. Levy, Irene Valenzuela, Laura Trujillano, Amaia Lasa-Aranzasti, Berta Campos, Neus Castells, Eline A. Verberne, Saskia Maas, Mariëlle Alders, Marcel M. A. M. Mannens, Mieke M. van Haelst, Bekim Sadikovic, Peter Henneman

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 14240, p 14240 (2023)

مصطلحات موضوعية: JARID2, CNV, DNA methylation, episignature, intellectual disability, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/24/18/14240; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/cf4651b452c4446c909f1c60cf569a81

الاتاحة: https://doi.org/10.3390/ijms241814240
https://doaj.org/article/cf4651b452c4446c909f1c60cf569a81

المؤلفون: Valeria Barili, Enrico Ambrosini, Vera Uliana, Melissa Bellini, Giulia Vitetta, Davide Martorana, Ilenia Rita Cannizzaro, Antonietta Taiani, Erika De Sensi, Patrizia Caggiati, Sarah Hilton, Siddharth Banka, Antonio Percesepe

المصدر: Genes, Vol 14, Iss 6, p 1241 (2023)

مصطلحات موضوعية: neurodevelopmental disorders, Cornelia de Lange syndrome, MEIS2, Kabuki syndrome, Kleefstra syndrome, episignature, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/14/6/1241; https://doaj.org/toc/2073-4425; https://doaj.org/article/71520baac815463081c6dd306c9eb933

الاتاحة: https://doi.org/10.3390/genes14061241
https://doaj.org/article/71520baac815463081c6dd306c9eb933

المؤلفون: Haley McConkey, Alexandre White-Brown, Jennifer Kerkhof, David Dyment, Bekim Sadikovic

المصدر: Frontiers in Cell and Developmental Biology, Vol 10 (2022)

مصطلحات موضوعية: epigenetics, DNA methylation, molecular diagnostics, neurodevelopmental disorders, episignature, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2022.1022683/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/d51d2163cea147cb820bba851a8a3285

المؤلفون: Foroutan A., Haghshenas S., Bhai P., Levy M. A., Kerkhof J., McConkey H., Niceta M., Ciolfi A., Pedace L., Miele E., Genevieve D., Heide S., Alders M., Zampino G., Merla G., Fradin M., Bieth E., Bonneau D., Dieterich K., Fergelot P., Schaefer E., Faivre L., Vitobello A., Maitz S., Fischetto R., Gervasini C., Piccione M., van de Laar I., Tartaglia M., Sadikovic B., Lebre A. -S.

المساهمون: Foroutan A., Haghshenas S., Bhai P., Levy M.A., Kerkhof J., McConkey H., Niceta M., Ciolfi A., Pedace L., Miele E., Genevieve D., Heide S., Alders M., Zampino G., Merla G., Fradin M., Bieth E., Bonneau D., Dieterich K., Fergelot P., Schaefer E., Faivre L., Vitobello A., Maitz S., Fischetto R., Gervasini C., Piccione M., van de Laar I., Tartaglia M., Sadikovic B., Lebre A.-S.

مصطلحات موضوعية: Abnormalities, Multiple, Craniofacial Abnormalitie, DNA methylation, Epigenetic, Episignature, Facie, Growth Disorder, Human, Hypertrichosi, Intellectual disability, KMT2A gene, Neurodevelopmental disorder, Phenotype, Wiedemann–Steiner syndrome

Relation: info:eu-repo/semantics/altIdentifier/pmid/35163737; info:eu-repo/semantics/altIdentifier/wos/WOS:000759997000001; volume:23; issue:3; numberofpages:17; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/10447/547094

الاتاحة: http://hdl.handle.net/10447/547094
https://doi.org/10.3390/ijms23031815

المؤلفون: Choufani, S. (Sanaa), McNiven, V. (Vanda), Cytrynbaum, C. (Cheryl), Jangjoo, M. (Maryam), Adam, M. P. (Margaret P.), Bjornsson, H. T. (Hans T.), Harris, J. (Jacqueline), Dyment, D. A. (David A.), Graham, G. E. (Gail E.), Nezarati, M. M. (Marjan M.), Aul, R. B. (Ritu B.), Castiglioni, C. (Claudia), Breckpot, J. (Jeroen), Devriendt, K. (Koen), Stewart, H. (Helen), Banos-Pinero, B. (Benito), Mehta, S. (Sarju), Sandford, R. (Richard), Dunn, C. (Carolyn), Mathevet, R. (Remi), van Maldergem, L. (Lionel), Piard, J. (Juliette), Brischoux-Boucher, E. (Elise), Vitobello, A. (Antonio), Faivre, L. (Laurence), Bournez, M. (Marie), Tran-Mau, F. (Frederic), Maystadt, I. (Isabelle), Fernandez-Jaen, A. (Alberto), Alvarez, S. (Sara), Garcia-Prieto, I. D. (Irene Diez), Alkuraya, F. S. (Fowzan S.), Alsaif, H. S. (Hessa S.), Rahbeeni, Z. (Zuhair), El-Akouri, K. (Karen), Al-Mureikhi, M. (Mariam), Spillmann, R. C. (Rebecca C.), Shashi, V. (Vandana), Sanchez-Lara, P. A. (Pedro A.), Graham, J. M. (John M., Jr.), Roberts, A. (Amy), Chorin, O. (Odelia), Evrony, G. D. (Gilad D.), Kraatari-Tiri, M. (Minna), Dudding-Byth, T. (Tracy), Richardson, A. (Anamaria), Hunt, D. (David), Hamilton, L. (Laura), Dyack, S. (Sarah), Mendelsohn, B. A. (Bryce A.), Rodriguez, N. (Nicolas), Sanchez-Martinez, R. (Rosario), Tenorio-Castano, J. (Jair), Nevado, J. (Julian), Lapunzina, P. (Pablo), Tirado, P. (Pilar), Rodrigues, M. C. (Maria-Teresa Carminho Amaro), Quteineh, L. (Lina), Innes, A. M. (A. Micheil), Kline, A. D. (Antonie D.), Au, P. Y. (P. Y. Billie), Weksberg, R. (Rosanna)

مصطلحات موضوعية: Au-Kline syndrome, DNA methylation signature, HNRNPK, Kabuki syndrome, Okamoto syndrome, RNA processing gene, epigenetics, episignature, neurodevelopmental disorder

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pissn/0002-9297; info:eu-repo/semantics/altIdentifier/eissn/1537-6605

الاتاحة: http://urn.fi/urn:nbn:fi-fe2022121571728