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1دورية أكاديمية
المؤلفون: Pierpaolo Mincarone, Antonella Bodini, Maria Rosaria Tumolo, Saverio Sabina, Riccardo Colella, Linda Mannini, Eugenio Sabato, Carlo Giacomo Leo
المصدر: JMIR Public Health and Surveillance, Vol 10, p e49772 (2024)
مصطلحات موضوعية: Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Francesca Cipressa, Patrizia Morciano, Giuseppe Bosso, Linda Mannini, Alessandra Galati, Grazia Daniela Raffa, Stefano Cacchione, Antonio Musio, Giovanni Cenci
المصدر: Nature Communications, Vol 7, Iss 1, Pp 1-9 (2016)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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3دورية أكاديمية
المؤلفون: Leonardo Rossi, Ra Salvetti, Francesco M Marincola, Annalisa Lena, Paolo Deri, Linda Mannini, Renata Batistoni, Ena Wang, Vittorio Gremigni
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
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المؤلفون: Gianluca Basso, Antonio Musio, Paolo Bianchi, Elisa De Vitis, Adele Servadio, Francesco Cucco, Luigi Laghi, Gabriella Fontanini, Silvia Soddu, Alessandro Friuli, Linda Mannini, Andrea Prodosmo, Veronica Gatti
المصدر: Human Molecular Genetics. 23:6773-6778
مصطلحات موضوعية: Adenoma, Male, Carcinogenesis, Chromosomal Proteins, Non-Histone, Primary Cell Culture, Gene Expression, Cell Cycle Proteins, Biology, SMC1A, medicine.disease_cause, Chromosome segregation, Chromosomal Instability, Chromosome Segregation, Chromosome instability, Genetics, medicine, Humans, RNA, Small Interfering, Molecular Biology, Genetics (clinical), Retrospective Studies, Mutation, Cohesin, Cancer, General Medicine, Fibroblasts, Aneuploidy, medicine.disease, Karyotyping, Cancer research, Female, Colorectal Neoplasms, Precancerous Conditions
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bbf6ce88f01698d575a19dc544fd9adTest
https://doi.org/10.1093/hmg/ddu394Test -
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المؤلفون: María Concepción Gil-Rodríguez, Angela E. Scheuerle, Kathleen A. Leppig, Hane Lee, Miguel Del Campo, Peter Diakumis, Katsuhiko Shirahige, Encarna Guillén-Navarro, Juliane Eckhold, Sally Ann Lynch, Holly Dubbs, A. Micheil Innes, Joe Ann S. Moser, Sulagna C. Saitta, Naohito Nozaki, Fabiola Quintero-Rivera, Helger G. Yntema, Antonie D. Kline, Antonio Perez-Aytes, Dinah Clark, Patrick Willems, Lynette S. Penney, Bryan D. Hall, David A. Dyment, Samuel P. Strom, Matthew A. Deardorff, Maninder Kaur, Kathleen A. Williamson, Diana Braunholz, Ieva Micule, Jennifer M. Hunter, Jose Ferreira, Laird G. Jackson, Sarah Ernst, Paldeep S. Atwal, Raoul C.M. Hennekam, Shane McKee, Sarju G. Mehta, David R. FitzPatrick, Sarah E. Noon, David J. Amor, Yolanda Gyftodimou, David W. Christianson, Louanne Hudgins, Christopher T. Fincher, Melanie Hullings, Inga Vater, Victoria Mok Siu, Feliciano J. Ramos, Michael B. Petersen, Christophe Decroos, Antonio Musio, Morad Ansari, Elizabeth Roeder, Nicole Revencu, Heidi Thiese, Shehla Mohammed, Beatriz Puisac, Louise C. Wilson, John Pappas, Lauren J. Francey, Zita Krumina, Zornitza Stark, Karen L. Schindeler, Juan Pié, Ellen Moran, Jolanta Wierzba, Nataliya Di Donato, Hakon Hakonarson, Frank J. Kaiser, Gabriele Gillessen-Kaesbach, Geert Mortier, Han G. Brunner, Linda Mannini, Melanie Bahlo, Jonathan J. Wilde, Masashige Bando, Jacquelyn J. Bradley, Mark B. Mallozzi, Ulrike Gehlken, Christine M. Bowman, Luis Nunes, Ian D. Krantz
المساهمون: Amsterdam Neuroscience, Amsterdam Public Health, Human Genetics, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de malformations vasculaires congénitales, CareRare Canada Consortium, University of Washington Center for Mendelian Genomics
المصدر: Kaiser, F J, Ansari, M, Braunholz, D, Concepción Gil-Rodríguez, M, Decroos, C, Wilde, J J, Fincher, C T, Kaur, M, Bando, M, Amor, D J, Atwal, P S, Bahlo, M, Bowman, C M, Bradley, J J, Brunner, H G, Clark, D, Del Campo, M, Di Donato, N, Diakumis, P, Dubbs, H, Dyment, D A, Eckhold, J, Ernst, S, Ferreira, J C, Francey, L J, Gehlken, U, Guillén-Navarro, E, Gyftodimou, Y, Hall, B D, Hennekam, R, Hudgins, L, Hullings, M, Hunter, J M, Yntema, H, Innes, A M, Kline, A D, Krumina, Z, Lee, H, Leppig, K, Lynch, S A, Mallozzi, M B, Mannini, L, McKee, S, Mehta, S G, Micule, I, Mohammed, S, Moran, E, Mortier, G R, Moser, J-A S, Petersen, M B & Care4Rare Canada Consortium 2014, ' Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance ', Human Molecular Genetics, vol. 23, no. 11, pp. 2888-2900 . https://doi.org/10.1093/hmg/ddu002Test
Human molecular genetics, 23(11), 2888-2900. Oxford University Press
Human molecular genetics, vol 23, iss 11
Human Molecular Genetics, 23, 11, pp. 2888-900
Human Molecular Genetics, 23, 2888-900
HUMAN MOLECULAR GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Human Molecular Genetics, Vol. 23, no. 11, p. 2888-2900 (2014)
Human molecular geneticsمصطلحات موضوعية: Male, Care4Rare Canada Consortium, medicine.disease_cause, Bioinformatics, Medical and Health Sciences, Cohort Studies, Congenital, Genes, X-Linked, De Lange Syndrome, 2.1 Biological and endogenous factors, Missense mutation, Eye Abnormalities, Aetiology, Hypertelorism, Child, Genetics (clinical), X-linked recessive inheritance, Pediatric, Genetics & Heredity, Genetics, screening and diagnosis, Mutation, Genetic disorder, Articles, General Medicine, Biological Sciences, Chemistry, Detection, Phenotype, Child, Preschool, Female, medicine.symptom, Cornelia de Lange Syndrome, Cohesin complex, Intellectual and Developmental Disabilities (IDD), Molecular Sequence Data, Cranial Fontanelles, Mutation, Missense, Biology, Histone Deacetylases, Rare Diseases, medicine, Humans, Amino Acid Sequence, Dental/Oral and Craniofacial Disease, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], University of Washington Center for Mendelian Genomics, Preschool, Molecular Biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Infant, NIPBL, X-Linked, medicine.disease, Brain Disorders, 4.1 Discovery and preclinical testing of markers and technologies, Repressor Proteins, Genes, Human medicine, Missense, Sequence Alignment
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d5b1ff2bb16729d8da56fa773419cfeTest
https://doi.org/10.1093/hmg/ddu002Test -
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المؤلفون: Valentina Quarantotti, David Geneviève, Linda Mannini, Anouck Schneider, Nicolas Sirvent, Pierre Sarda, Antonio Musio, Francesco Cucco, Jacques Puechberty, Marjolaine Willems, Lucile Pinson, Geneviève Lefort, Corinne Collet, Thierry Frebourg
المصدر: American Journal of Medical Genetics Part A. 164:177-181
مصطلحات موضوعية: Proband, media_common.quotation_subject, DNA Mutational Analysis, Aneuploidy, Chromosome Disorders, Biology, BUB1B, medicine.disease_cause, Consanguinity, Genetics, medicine, Humans, Girl, Gene, Genetics (clinical), media_common, Mutation, Mosaicism, Facies, Nuclear Proteins, medicine.disease, Pedigree, Spindle apparatus, Skull, Phenotype, medicine.anatomical_structure, Child, Preschool, Female, Microtubule-Associated Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06748476d8a20772d5fced67481dd196Test
https://doi.org/10.1002/ajmg.a.36166Test -
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المصدر: Human Mutation. 34:1589-1596
مصطلحات موضوعية: Proband, Cornelia de Lange Syndrome, Genotype, Chromosomal Proteins, Non-Histone, Gene Expression, Cell Cycle Proteins, Biology, medicine.disease_cause, Article, De Lange Syndrome, Genetics, medicine, Humans, Missense mutation, Genetic Association Studies, Genetics (clinical), Mutation, Genetic heterogeneity, Facies, Nuclear Proteins, Proteins, NIPBL, Phosphoproteins, medicine.disease, Phenotype, DNA-Binding Proteins, Chondroitin Sulfate Proteoglycans
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a7d80835eebaa215e52e38b2b56ee09Test
https://doi.org/10.1002/humu.22430Test -
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المؤلفون: Matthew A. Deardorff, Anna Gimigliano, Linda Mannini, Ian D. Krantz, Antonio Musio, Michele Puglia, Laura Bianchi, Stefania Menga, Luca Bini
المصدر: Journal of Proteome Research. 11:6111-6123
مصطلحات موضوعية: Male, Proteomics, Genome instability, Proteome, Transcription, Genetic, Chromosomal Proteins, Non-Histone, cohesin, Cell Cycle Proteins, SMC3, Biochemistry, Mass Spectrometry, Two-Dimensional Difference Gel Electrophoresis, De Lange Syndrome, Protein Interaction Maps, Genetics, Regulation of gene expression, Nuclear Proteins, Phenotype, cohesin, Cornelia de Lange syndrome, SMC1A, SMC3, 2D-DIGE, proteomic profile, dysregulated protein expression, c-Myc, DNA-Binding Proteins, c-Myc, 2D-DIGE, Female, Cornelia de Lange Syndrome, Molecular Sequence Data, Primary Cell Culture, dysregulated protein expression, Biology, SMC1A, proteomic profile, Genomic Instability, Article, Proto-Oncogene Proteins c-myc, medicine, Humans, Amino Acid Sequence, Gene, Cohesin, General Chemistry, Phosphoproteins, medicine.disease, Cornelia de Lange syndrome, Protein Structure, Tertiary, Oxidative Stress, Chondroitin Sulfate Proteoglycans, Gene Expression Regulation, Case-Control Studies, Mutation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52faf70a8ae992a9a28e2bb6cc70171fTest
https://doi.org/10.1021/pr300760pTest -
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المؤلفون: Valentina Quarantotti, Mara Tinti, Clelia Amato, Rolf Jessberger, Linda Mannini, Luigi Tana, A. Frattini, Antonio Musio, Domenico Delia, Francesco Cucco, Ian D. Krantz
المصدر: Scientific Reports
مصطلحات موضوعية: Male, Chromosomal Proteins, Non-Histone, Blotting, Western, Molecular Sequence Data, Mitosis, Cell Cycle Proteins, SMC1B, Biology, Article, Mitotic cohesin complex, Chromosome segregation, Chromosome Segregation, Sequence Homology, Nucleic Acid, Animals, Humans, Sister chromatids, Amino Acid Sequence, Hox gene, Cells, Cultured, Mice, Knockout, Genetics, Multidisciplinary, Base Sequence, Sequence Homology, Amino Acid, Cohesin, Reverse Transcriptase Polymerase Chain Reaction, Gene Expression Profiling, Fibroblasts, Cell biology, Mutation, RNA Interference, biological phenomena, cell phenomena, and immunity, Separase, Protein Binding
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acbd04c14902f200c15069672b6e0c1bTest
https://doi.org/10.1038/srep18472Test -
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المؤلفون: Clelia Amato, Ian D. Krantz, Ilaria Maria Rizzo, Linda Mannini, Valentina Quarantotti, Francesco Cucco, Antonio Musio, Fabien C. Lamaze, Steve Bilodeau
المصدر: Scientific Reports
مصطلحات موضوعية: Chromatin Immunoprecipitation, Cornelia de Lange Syndrome, Transcription, Genetic, Cohesin complex, Chromosomal Proteins, Non-Histone, Cell Cycle Proteins, Biology, Article, Cell Line, De Lange Syndrome, Transcriptional regulation, medicine, Humans, Phosphorylation, Promoter Regions, Genetic, Regulation of gene expression, Genetics, Multidisciplinary, Cohesin, Genome, Human, Gene Expression Profiling, NIPBL, SMC1A Gene, medicine.disease, Establishment of sister chromatid cohesion, Gene Expression Regulation, Mutation, RNA Polymerase II, biological phenomena, cell phenomena, and immunity, Protein Binding
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94479078b6ff62295eb94d2472215522Test