المؤلفون: Zollino, M.

المساهمون: Loviglio, M. N., Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., Van Der Werf, I., Waszak, S. M., Zazhytska, M., Roberts-Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A. A., Hippolyte, L., Maillard, A. M., Zollino, Marcella, Van Dijck, A., Kooy, R. F., Sanlaville, D., Rosenfeld, J. A., Shaffer, L. G., Andrieux, J., Marshall, C., Scherer, S. W., Shen, Y., Gusella, J. F., Thorsteinsdottir, U., Thorleifsson, G., Dermitzakis, E. T., Deplancke, B., Beckmann, J. S., Rougemont, J., Jacquemont, S., Reymond, A.

مصطلحات موضوعية: Adolescent, Adult, Aged, Autism Spectrum Disorder, Autistic Disorder, Body Mass Index, Child, Preschool, Chromatin, Chromosome Deletion, Chromosome Duplication, Chromosome Mapping, Chromosomes, Human, Pair 16, DNA Copy Number Variation, Female, In Situ Hybridization, Fluorescence, Infant, Intellectual Disability, Male, Megalencephaly, Microcephaly, Middle Aged, Obesity, Phenotype, Molecular Biology, Psychiatry and Mental Health, Cellular and Molecular Neuroscience

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27240531; info:eu-repo/semantics/altIdentifier/wos/WOS:000401702800007; volume:22; issue:6; firstpage:836; lastpage:849; numberofpages:14; issueyear:2017; journal:MOLECULAR PSYCHIATRY; http://hdl.handle.net/10807/114664Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84973140920; http://www.nature.com/mp/index.htmlTest

الإتاحة: https://doi.org/10.1038/mp.2016.84Test
http://hdl.handle.net/10807/114664Test
http://www.nature.com/mp/index.htmlTest

المؤلفون: Madhav V. Dhodapkar, Jonathan L. Kaufman, Vikas Gupta, Sagar Lonial, Ajay K. Nooka, Zhengjia Chen, Jiayi Wu, David L. Jaye, Leonard T. Heffner, Craig C. Hofmeister, Subir Goyal, Nisha Joseph, Lawrence H. Boise, Timothy M. Schmidt, Benjamin G. Barwick, Leon Bernal

المصدر: Blood Cancer Journal, Vol 9, Iss 12, Pp 1-13 (2019)
Blood Cancer Journal

مصطلحات موضوعية: Oncology, Male, Myeloma, Kaplan-Meier Estimate, Dexamethasone, Bortezomib, 0302 clinical medicine, Antineoplastic Combined Chemotherapy Protocols, Chromosome Duplication, Cancer genomics, Medicine, Lenalidomide, Multiple myeloma, Aged, 80 and over, 0303 health sciences, Hematology, Middle Aged, Prognosis, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, 3. Good health, Cancer therapeutic resistance, Treatment Outcome, Chromosomes, Human, Pair 1, 030220 oncology & carcinogenesis, Disease Progression, Female, Multiple Myeloma, medicine.drug, medicine.medical_specialty, DNA Copy Number Variations, Context (language use), lcsh:RC254-282, Article, 03 medical and health sciences, Internal medicine, Humans, Genetic Predisposition to Disease, Genetic Association Studies, 030304 developmental biology, Aged, Proportional Hazards Models, business.industry, Proportional hazards model, Significant difference, Chromosome, medicine.disease, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7be6b1914555ad1ce860de7cdcfe569fTest
http://link.springer.com/article/10.1038/s41408-019-0254-0Test

المؤلفون: Ghoumid, Jamal, Andrieux, Joris, Sablonnière, Bernard, Odent, Sylvie, Philippe, Nathalie, Zanlonghi, Xavier, Saugier-Veber, Pascale, Bardyn, Thomas, Manouvrier-Hanu, Sylvie, Holder-Espinasse, Muriel

المساهمون: Service de génétique clinique, Hôpital Jeanne de Flandre Lille -Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Laboratoire de Génétique Clinique, Hôpital Jeanne de Flandre Lille -Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Centre de Biologie Pathologie, Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service d'ophtalmologie Nantes, Hôtel-Dieu, Service de génétique Rouen, CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)

المصدر: ISSN: 1018-4813.

مصطلحات موضوعية: HOXD cluster, 2q31.1q31.2 duplication, syndactyly, MESH: Adult Child In Situ Hybridization, Fluorescence Karyotype Male Multigene Family Nystagmus, Pathologic Phenotype Syndactyly Trisomy Chromosome Duplication Chromosomes, Human, Pair 2 Comparative Genomic Hybridization Family Health Female Genetic Association Studies Homeodomain Proteins Humans, [SDV.BDD]Life Sciences [q-bio]/Development Biology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21654727; hal-00649446; https://hal.science/hal-00649446Test; https://hal.science/hal-00649446/documentTest; https://hal.science/hal-00649446/file/PEER_stage2_10.1038%252Fejhg.2011.95.pdfTest; PUBMED: 21654727

الإتاحة: https://doi.org/10.1038/ejhg.2011.95Test
https://hal.science/hal-00649446Test
https://hal.science/hal-00649446/documentTest
https://hal.science/hal-00649446/file/PEER_stage2_10.1038%252Fejhg.2011.95.pdfTest

المؤلفون: Moey, C., Hinze, S., Brueton, L., Morton, J., McMullan, D., Kamien, B., Barnett, C., Brunetti-Pierri, N., Nicholl, J., Gecz, J., Shoubridge, C.

المصدر: http://dx.doi.org/10.1038/ejhg.2015.123Test.

مصطلحات موضوعية: Chromosomes, Human, Humans, Guanine Nucleotide Exchange Factors, Cell Cycle Proteins, DNA-Binding Proteins, Nuclear Proteins, Chromosomal Proteins, Non-Histone, RNA, Messenger, Pedigree, Behavior, Gene Expression Regulation, Adolescent, Child, Preschool, Infant, Newborn, Female, Male, Young Adult, Histone Demethylases, Chromosome Duplication, Intellectual Disability, Neurodevelopmental Disorders

العلاقة: http://purl.org/au-research/grants/nhmrc/1006586Test; http://purl.org/au-research/grants/arc/FT120100086Test; http://purl.org/au-research/grants/nhmrc/1041920Test; European Journal of Human Genetics, 2016; 24(3):373-380; http://hdl.handle.net/2440/100008Test; Barnett, C. [0000-0003-1717-3824]; Gecz, J. [0000-0002-7884-6861]; Shoubridge, C. [0000-0002-0157-3084]

الإتاحة: https://doi.org/10.1038/ejhg.2015.123Test
http://hdl.handle.net/2440/100008Test

المؤلفون: Signe Värv, Kersti Kristjuhan, Marko Lõoke, Arnold Kristjuhan

المصدر: EMBO Reports

مصطلحات موضوعية: DNA Replication, Saccharomyces cerevisiae Proteins, Autonomously replicating sequence, Molecular Sequence Data, Replication Origin, Saccharomyces cerevisiae, Biology, Origin of replication, Pre-replication complex, Biochemistry, Forkhead transcription factors, S Phase, Control of chromosome duplication, Genetics, Cdc45, DNA, Fungal, Molecular Biology, S phase, Base Sequence, Scientific Reports, DNA replication, Nuclear Proteins, DNA replication origin, Chromatin, DNA-Binding Proteins, Kinetics, replication origin timing, Origin recognition complex, Protein Binding

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92a79b577aefdf5657c7409092458b10Test
http://europepmc.org/articles/PMC3596130Test

المؤلفون: Sachihiro Matsunaga, Ryohei Yokoyama, Takeshi Hirakawa, Seri Hayashi, Takuya Sakamoto

المصدر: Scientific Reports

مصطلحات موضوعية: 0106 biological sciences, 0301 basic medicine, Multidisciplinary, DNA clamp, biology, DNA replication, Eukaryotic DNA replication, 01 natural sciences, DNA polymerase delta, Molecular biology, Article, Proliferating cell nuclear antigen, 03 medical and health sciences, 030104 developmental biology, Replication factor C, Control of chromosome duplication, biology.protein, S phase, 010606 plant biology & botany

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::511a09e67c84c0b453fd23b2b3040054Test

المؤلفون: Swagata Halder, Hamid Kashkar, Divya Achuthankutty, Domenic Pilger, Kristijan Ramadan, Thorsten Hoppe, André Franz, Paul A. Pirson

المصدر: Nature Communications
Nature Communications, Vol 7, Iss 1, Pp 1-15 (2016)

مصطلحات موضوعية: 0301 basic medicine, DNA Replication, Embryo, Nonmammalian, Chromosomal Proteins, Non-Histone, Science, General Physics and Astronomy, Eukaryotic DNA replication, Cell Cycle Proteins, Pre-replication complex, Time-Lapse Imaging, General Biochemistry, Genetics and Molecular Biology, Article, DNA replication factor CDT1, Ligases, 03 medical and health sciences, Replication factor C, Control of chromosome duplication, Minichromosome maintenance, Valosin Containing Protein, Cell Line, Tumor, Animals, Humans, Immunoprecipitation, Caenorhabditis elegans, Caenorhabditis elegans Proteins, Adaptor Proteins, Signal Transducing, Genetics, Adenosine Triphosphatases, Microscopy, Multidisciplinary, biology, General Chemistry, DNA Replication Fork, Chromatin, 030104 developmental biology, HEK293 Cells, biology.protein, Origin recognition complex, Erratum, Apoptosis Regulatory Proteins, Carrier Proteins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee82ee7870ca3cefa088b3960c130046Test
http://europepmc.org/articles/PMC4743000Test

المؤلفون: Montserrat Soler-López, Modesto Orozco, Martí Aldea, Oscar Flores, Özgen Deniz

المساهمون: Universitat de Barcelona, Instituto de Salud Carlos III, European Research Council, Ministerio de Ciencia e Innovación (España)

المصدر: Recercat. Dipósit de la Recerca de Catalunya
instname
Digital.CSIC. Repositorio Institucional del CSIC
Dipòsit Digital de la UB
Universidad de Barcelona
Scientific Reports

مصطلحات موضوعية: DNA Replication, 0301 basic medicine, Nucleosome organization, Cèl·lules, Cells, ADN, Saccharomyces cerevisiae, Biology, Cell cycle, Origin of replication, Cicle cel·lular, Cell nuclei, Article, Biologia computacional, 03 medical and health sciences, Células, Control of chromosome duplication, Nucleosome, DNA, Fungal, Genetics, Multidisciplinary, Cell Cycle, Fungal genetics, DNA replication, DNA, Chromatin, Cell biology, Computational biology and bioinformatics, Nucleosomes, 030104 developmental biology, Nuclis cel·lulars

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::822f8454e053c89454549044f2a167ebTest
http://hdl.handle.net/2445/116462Test

المؤلفون: Xi Yuan, Yu Tao, Jian Wang, Li Chen, Fan Song, David Saffen

المصدر: Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, Genotype, Genotyping Techniques, Retinoic acid induced 1, Gene Dosage, Retinoic acid, Prefrontal Cortex, Chromosome Disorders, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Cell Line, Tumor, Chromosome Duplication, Humans, Abnormalities, Multiple, RNA, Messenger, Receptor, Transcription factor, Gene, Neurons, Temporal cortex, Genetics, Multidisciplinary, Base Sequence, Nuclear Proteins, Temporal Lobe, DNA-Binding Proteins, Phenotype, Retinoid X Receptors, 030104 developmental biology, Gene Expression Regulation, chemistry, Mutation, Trans-Activators, Smith-Magenis Syndrome, Chromatin immunoprecipitation, 030217 neurology & neurosurgery, Signal Transduction, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::175ed090bd5509eff2d997037ef7d6cbTest

المؤلفون: Guofeng Zhu, Xian-En Zhang, Wenjing Wei, Shi-Qiang Lin, Lijun Bi, Wenjuan Li, Shihua Wang, Jie Zhou, Ying Zhou, Shoujin Gu, Hou Jian, Hongtai Zhang, Weiqiang Yang, Joy Fleming, Jiao-Yu Deng

المصدر: Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, DNA Replication, DNA, Bacterial, Exonucleases, DNA polymerase, DNA polymerase II, DNA-Directed DNA Polymerase, DNA polymerase delta, Article, Protein Structure, Secondary, Polymerization, 03 medical and health sciences, Structure-Activity Relationship, Replication factor C, Control of chromosome duplication, DNA Polymerase III, Multidisciplinary, DNA clamp, biology, DNA replication, Processivity, Mycobacterium tuberculosis, Virology, Cell biology, Protein Subunits, 030104 developmental biology, biology.protein, Protein Binding

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9719f36640a4ef41774a011ae28767f8Test
http://europepmc.org/articles/PMC4731781Test