المؤلفون: Zito, Antonino, Roberts, Amy, Visconti, Alessia, Rossi, Niccolo, Andres Ejarque, Rosa, Nardone, Stefano, El-Sayed Moustafa, Julia, Falchi, Mario, Small, Kerrin

المصدر: Zito , A , Roberts , A , Visconti , A , Rossi , N , Andres Ejarque , R , Nardone , S , El-Sayed Moustafa , J , Falchi , M & Small , K 2023 , ' Escape from X-inactivation in twins exhibits intra- and inter-individual variability across tissues and is heritable ' , PLoS Genetics , vol. 19 , no. 2 , e1010556 . https://doi.org/10.1371/journal.pgen.1010556Test

مصطلحات موضوعية: Humans, Female, X Chromosome Inactivation/genetics, Chromosomes, Human, X/genetics, Genes, X-Linked/genetics, Twins, Monozygotic/genetics, Phenotype

الإتاحة: https://doi.org/10.1371/journal.pgen.1010556Test
https://kclpure.kcl.ac.uk/portal/en/publications/40f68ba3-48a2-432c-9406-37dbd50c275eTest
http://www.scopus.com/inward/record.url?scp=85148396134&partnerID=8YFLogxKTest

المؤلفون: Turco, Elisa Maria, Giovenale, Angela Maria Giada, Sireno, Laura, Mazzoni, Martina, Cammareri, Alessandra, Marchioretti, Caterina, Goracci, Laura, Di Veroli, Alessandra, Marchesan, Elena, D'Andrea, Daniel, Falconieri, Antonella, Torres, Barbara, Bernardini, Laura, Magnifico, Maria Chiara, Paone, Alessio, Rinaldo, Serena, Della Monica, Matteo, D'Arrigo, Stefano, Postorivo, Diana, Nardone, Anna Maria, Zampino, Giuseppe, Onesimo, Roberta, Leoni, Chiara, Caicci, Federico, Raimondo, Domenico, Binda, Elena, Trobiani, Laura, De Jaco, Antonella, Tata, Ada Maria, Ferrari, Daniela, Cutruzzolà, Francesca, Mazzoccoli, Gianluigi, Ziviani, Elena, Pennuto, Maria, Vescovi, Angelo Luigi, Rosati, Jessica

المساهمون: Turco, Elisa Maria, Giovenale, Angela Maria Giada, Sireno, Laura, Mazzoni, Martina, Cammareri, Alessandra, Marchioretti, Caterina, Goracci, Laura, Di Veroli, Alessandra, Marchesan, Elena, D'Andrea, Daniel, Falconieri, Antonella, Torres, Barbara, Bernardini, Laura, Magnifico, Maria Chiara, Paone, Alessio, Rinaldo, Serena, Della Monica, Matteo, D'Arrigo, Stefano, Postorivo, Diana, Nardone, Anna Maria, Zampino, Giuseppe, Onesimo, Roberta, Leoni, Chiara, Caicci, Federico, Raimondo, Domenico, Binda, Elena, Trobiani, Laura, De Jaco, Antonella, Tata, Ada Maria, Ferrari, Daniela, Cutruzzolà, Francesca, Mazzoccoli, Gianluigi, Ziviani, Elena, Pennuto, Maria, Vescovi, Angelo Luigi, Rosati, Jessica

مصطلحات موضوعية: Human, Haploinsufficiency, Lipid Metabolism, Transcription Factor, Trans-Activator, Phenotype, Autophagy, Tretinoin, Lipid, Smith-Magenis Syndrome

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36411275; info:eu-repo/semantics/altIdentifier/wos/WOS:000886207500001; volume:13; issue:11; firstpage:981; journal:CELL DEATH & DISEASE; https://hdl.handle.net/11577/3462265Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85142392229

الإتاحة: https://doi.org/10.1038/s41419-022-05410-7Test
https://hdl.handle.net/11577/3462265Test

المؤلفون: Hirsch, Naama, Dahan, Idit, D'haene, Eva, Avni, Matan, Vergult, Sarah, Vidal-García, Marta, Magini, Pamela, Graziano, Claudio, Severi, Giulia, Bonora, Elena, Nardone, Anna Maria, Brancati, Francesco, Fernández-Jaén, Alberto, Rory, Olson J, Hallgrímsson, Benedikt, Birnbaum, Ramon Y

المساهمون: Hirsch, Naama, Dahan, Idit, D'haene, Eva, Avni, Matan, Vergult, Sarah, Vidal-García, Marta, Magini, Pamela, Graziano, Claudio, Severi, Giulia, Bonora, Elena, Nardone, Anna Maria, Brancati, Francesco, Fernández-Jaén, Alberto, Rory, Olson J, Hallgrímsson, Benedikt, Birnbaum, Ramon Y

مصطلحات موضوعية: Animal, Gene Expression Regulation, Human, Mice, Phenotype, Craniosynostose, Histone Deacetylase, Nuclear Protein, Polydactyly, Repressor Protein, Twist-Related Protein 1

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35710300; info:eu-repo/semantics/altIdentifier/wos/WOS:000836129800002; volume:32; issue:7; firstpage:1242; lastpage:1253; numberofpages:12; journal:GENOME RESEARCH; https://hdl.handle.net/11585/902948Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85135383190; https://genome.cshlp.org/content/early/2022/07/18/gr.276196.121.full.pdf+htmlTest

الإتاحة: https://doi.org/10.1101/gr.276196.121Test
https://hdl.handle.net/11585/902948Test
https://genome.cshlp.org/content/early/2022/07/18/gr.276196.121.full.pdf+htmlTest

المؤلفون: Lionel, Anath C, Tammimies, Kristiina, Vaags, Andrea K, Rosenfeld, Jill A, Ahn, Joo Wook, Merico, Daniele, Noor, Abdul, Runke, Cassandra K, Pillalamarri, Vamsee K, Carter, Melissa T, Gazzellone, Matthew J, Thiruvahindrapuram, Bhooma, Fagerberg, Christina, Laulund, Lone W, Pellecchia, Giovanna, Lamoureux, Sylvia, Deshpande, Charu, Clayton-Smith, Jill, White, Ann C, Leather, Susan, Trounce, John, Bedford, H Melanie, Hatchwell, Eli, Eis, Peggy S, Yuen, Ryan KC, Walker, Susan, Uddin, Mohammed, Geraghty, Michael T, Nikkel, Sarah M, Tomiak, Eva M, Fernandez, Bridget A, Soreni, Noam, Crosbie, Jennifer, Arnold, Paul D, Schachar, Russell J, Roberts, Wendy, Paterson, Andrew D, So, Joyce, Szatmari, Peter, Chrysler, Christina, Woodbury-Smith, Marc, Lowry, R Brian, Zwaigenbaum, Lonnie, Mandyam, Divya, Wei, John, MacDonald, Jeffrey R, Howe, Jennifer L, Nalpathamkalam, Thomas, Wang, Zhuozhi, Tolson, Daniel, Cobb, David S, Wilks, Timothy M, Sorensen, Mark J, Bader, Patricia I, An, Yu, Wu, Bai-Lin, Musumeci, Sebastiano Antonino, Romano, Corrado, Postorivo, Diana, Nardone, Anna M, Della Monica, Matteo, Scarano, Gioacchino, Zoccante, Leonardo, Novara, Francesca, Zuffardi, Orsetta, Ciccone, Roberto, Antona, Vincenzo, Carella, Massimo, Zelante, Leopoldo, Cavalli, Pietro, Poggiani, Carlo, Cavallari, Ugo, Argiropoulos, Bob, Chernos, Judy, Brasch-Andersen, Charlotte, Speevak, Marsha, Fichera, Marco, Ogilvie, Caroline Mackie, Shen, Yiping, Hodge, Jennelle C, Talkowski, Michael E, Stavropoulos, Dimitri J, Marshall, Christian R, Scherer, Stephen W

المصدر: Human Molecular Genetics. 23(10)

مصطلحات موضوعية: Pediatric Research Initiative, Pediatric, Intellectual and Developmental Disabilities (IDD), Mental Health, Brain Disorders, Human Genome, Neurosciences, Autism, Clinical Research, Behavioral and Social Science, Genetics, 2.1 Biological and endogenous factors, Aetiology, Mental health, Adolescent, Adult, Attention Deficit Disorder with Hyperactivity, Case-Control Studies, Child, Child Development Disorders, Pervasive, Child, Preschool, Chromosomes, Human, Pair 9, DNA Copy Number Variations, Exons, Female, Gene Expression, Genetic Association Studies, Genetic Predisposition to Disease, Glycoproteins, Humans, Infant, Infant, Newborn, Male, Nerve Tissue Proteins, Organ Specificity, Phenotype, Polymorphism, Single Nucleotide, Protein Isoforms, Receptors, Cell Surface, Risk Factors, Sequence Deletion, Transcription Factors, Transcription Initiation Site, Tripartite Motif Proteins, Ubiquitin-Protein Ligases, Young Adult, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/59x2g1gfTest

المؤلفون: Henström, Maria, Diekmann, Lena, Bonfiglio, Ferdinando, Hadizadeh, Fatemeh, Zheng, Tenghao, Assadi, Ghazaleh, Heine, Martin, Philipp, Ute, Money, Mary E., Belheouane, Meriem, Rafter, Joseph, Nardone, Gerardo, Cuomo, Rosario, Galeazzi, Francesca, Neri, Matteo, Walter, Susanna, Simrén, Magnus, Karling, Pontus, Ohlsson, Bodil, Schmidt, Peter T., Lindberg, Greger, Dlugosz, Aldona, Agreus, Lars, Andreasson, Anna, Mayer, Emeran, Baines, John F., Engstrand, Lars, Bellini, Massimo, Stanghellini, Vincenzo, Barbara, Giovanni, Chang, Lin, Camilleri, Michael, Franke, Andre, Naim, Hassan Y., D'Amato, Mauro, Kuech, Eva-Maria, Von Köckritz-Blickwede, Maren, Thingholm, Louise B, DIerks, Claudia, DIstl, Ottmar, Heinsen, Femke-Anouska, Usai-Satta, Paolo, Portincasa, Piero

المساهمون: Henström, Maria, Diekmann, Lena, Bonfiglio, Ferdinando, Hadizadeh, Fatemeh, Zheng, Tenghao, Assadi, Ghazaleh, Heine, Martin, Philipp, Ute, Money, Mary E., Belheouane, Meriem, Rafter, Joseph, Nardone, Gerardo, Cuomo, Rosario, Galeazzi, Francesca, Neri, Matteo, Walter, Susanna, Simrén, Magnu, Karling, Pontu, Ohlsson, Bodil, Schmidt, Peter T., Lindberg, Greger, Dlugosz, Aldona, Agreus, Lar, Andreasson, Anna, Mayer, Emeran, Baines, John F., Engstrand, Lar, Bellini, Massimo, Stanghellini, Vincenzo, Barbara, Giovanni, Chang, Lin, Camilleri, Michael, Franke, Andre, Naim, Hassan Y., D'Amato, Mauro, Kuech, Eva-Maria, Von Köckritz-Blickwede, Maren, Thingholm, Louise B, Dierks, Claudia, Distl, Ottmar, Heinsen, Femke-Anouska, Usai-Satta, Paolo, Portincasa, Piero

مصطلحات موضوعية: DIARRHOEA, GENETICS, IRRITABLE BOWEL SYNDROME, POLYMORPHIC VARIATION, Adult, Animal, Carbohydrate Metabolism, Inborn Error, Case-Control Studie, Cell Line, Cell Membrane, DNA Mutational Analysi, Defecation, Diarrhea, Exon, Fece, Female, Gene Dosage, Genotype, Haplorhini, Human, Male, Middle Aged, Phenotype, Polymorphism, Single Nucleotide, Risk Factor, Sucrase-Isomaltase Complex, Transfection, Gastroenterology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27872184; info:eu-repo/semantics/altIdentifier/wos/WOS:000419604800011; volume:67; issue:2; firstpage:263; lastpage:270; numberofpages:8; journal:GUT; http://hdl.handle.net/11586/185583Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85006058898; http://gut.bmj.com/content/by/yearTest

الإتاحة: https://doi.org/10.1136/gutjnl-2016-312456Test
http://hdl.handle.net/11586/185583Test
http://gut.bmj.com/content/by/yearTest

المؤلفون: Naama Hirsch, Idit Dahan, Eva D'haene, Matan Avni, Sarah Vergult, Marta Vidal-García, Pamela Magini, Claudio Graziano, Giulia Severi, Elena Bonora, Anna Maria Nardone, Francesco Brancati, Alberto Fernández-Jaén, Olson J. Rory, Benedikt Hallgrímsson, Ramon Y. Birnbaum

المساهمون: Hirsch, Naama, Dahan, Idit, D'haene, Eva, Avni, Matan, Vergult, Sarah, Vidal-García, Marta, Magini, Pamela, Graziano, Claudio, Severi, Giulia, Bonora, Elena, Nardone, Anna Maria, Brancati, Francesco, Fernández-Jaén, Alberto, Rory, Olson J, Hallgrímsson, Benedikt, Birnbaum, Ramon Y

المصدر: GENOME RESEARCH

مصطلحات موضوعية: Craniosynostose, Animal, Twist-Related Protein 1, Repressor Protein, TRANSLOCATION, Mice, Polydactyly, Phenotype, Gene Expression Regulation, Histone Deacetylase, Medicine and Health Sciences, Genetics, Genetics (clinical), Human, Nuclear Protein, TISSUE-SPECIFIC ENHANCERS

وصف الملف: application/pdf; ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc3cb705b0bd5bf2ec9d1b137970f325Test
https://hdl.handle.net/11697/197389Test

المؤلفون: Elisa Maria Turco, Angela Maria Giada Giovenale, Laura Sireno, Martina Mazzoni, Alessandra Cammareri, Caterina Marchioretti, Laura Goracci, Alessandra Di Veroli, Elena Marchesan, Daniel D’Andrea, Antonella Falconieri, Barbara Torres, Laura Bernardini, Maria Chiara Magnifico, Alessio Paone, Serena Rinaldo, Matteo Della Monica, Stefano D’Arrigo, Diana Postorivo, Anna Maria Nardone, Giuseppe Zampino, Roberta Onesimo, Chiara Leoni, Federico Caicci, Domenico Raimondo, Elena Binda, Laura Trobiani, Antonella De Jaco, Ada Maria Tata, Daniela Ferrari, Francesca Cutruzzolà, Gianluigi Mazzoccoli, Elena Ziviani, Maria Pennuto, Angelo Luigi Vescovi, Jessica Rosati

المساهمون: Turco, E, Giovenale, A, Sireno, L, Mazzoni, M, Cammareri, A, Marchioretti, C, Goracci, L, Di Veroli, A, Marchesan, E, D'Andrea, D, Falconieri, A, Torres, B, Bernardini, L, Magnifico, M, Paone, A, Rinaldo, S, Della Monica, M, D'Arrigo, S, Postorivo, D, Nardone, A, Zampino, G, Onesimo, R, Leoni, C, Caicci, F, Raimondo, D, Binda, E, Trobiani, L, De Jaco, A, Tata, A, Ferrari, D, Cutruzzola, F, Mazzoccoli, G, Ziviani, E, Pennuto, M, Vescovi, A, Rosati, J

مصطلحات موضوعية: Cancer Research, Haploinsufficiency genetic, Immunology, Autophagy genetic, Smith-Magenis Syndrome diagnosi, Tretinoin, Haploinsufficiency, Trans-Activators metabolism, Tretinoin pharmacology, Cellular and Molecular Neuroscience, Transcription Factors metabolism, Autophagy, Humans, RAI1, IPCSc, SMS, autophagy, IPCSc, Cell Biology, Lipid, Lipid Metabolism, Lipids, Smith-Magenis Syndrome pathology, Tretinoin metabolism, Lipid Metabolism genetic, Phenotype, SMS, Smith-Magenis Syndrome genetic, Trans-Activators, RAI1, Smith-Magenis Syndrome, Transcription Factors, Human

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2281f224da5dfa5b549c0272770201aeTest
https://hdl.handle.net/11391/1538034Test

المؤلفون: Giovanni Barbara, Yuri A. Saito, Mauro D'Amato, Greger Lindberg, Massimo Bellini, Nicholas J. Talley, Piero Portincasa, Rosario Cuomo, Weronica E. Ek, Cheryl E. Bernard, Gerardo Nardone, Aldona Dlugosz, Arthur Beyder, Pontus Karling, G. Richard Locke, Maria Gazouli, Michael J. Ackerman, Peter T. Schmidt, Bodil Ohlsson, Matteo Neri, Michael Camilleri, David J. Tester, Peter R. Strege, Felicity Enders, Paolo Usai-Satta, Francesca Galeazzi, Gianrico Farrugia, Amelia Mazzone

المساهمون: Beyder, A, Mazzone, A, Strege, Pr, Tester, Dj, Saito, Ya, Bernard, Ce, Enders, Ft, Ek, We, Schmidt, Pt, Dlugosz, A, Lindberg, G, Karling, P, Ohlsson, B, Gazouli, M, Nardone, GERARDO ANTONIO PIO, Cuomo, Rosario, Usai Satta, P, Galeazzi, F, Neri, M, Portincasa, P, Bellini, M, Barbara, G, Camilleri, M, Locke GR, 3rd, Talley, Nj, D'Amato, M, Ackerman, Mj, Farrugia, G., Beyder, Arthur, Mazzone, Amelia, Strege, Peter R, Tester, David J, Saito, Yuri A, Bernard, Cheryl E, Enders, Felicity T, Ek, Weronica E, Schmidt, Peter T, Dlugosz, Aldona, Lindberg, Greger, Karling, Pontu, Ohlsson, Bodil, Gazouli, Maria, Nardone, Gerardo, Usai-Satta, Paolo, Galeazzi, Francesca, Neri, Matteo, Portincasa, Piero, Bellini, Massimo, Barbara, Giovanni, Camilleri, Michael, Locke, G Richard, Talley, Nicholas J, D'Amato, Mauro, Ackerman, Michael J, Farrugia, Gianrico

المصدر: Gastroenterology. 146:1659-1668

مصطلحات موضوعية: Male, Proband, Genetics, GI Motility, Polymorphism, Voltage-Gated Sodium Channel, Adolescent, Adult, Aged, Case-Control Studies, Channelopathies, Constipation, DNA Mutational Analysis, Diarrhea, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, HEK293 Cells, Humans, Irritable Bowel Syndrome, Membrane Potentials, Middle Aged, NAV1.5 Voltage-Gated Sodium Channel, Phenotype, Prevalence, Prospective Studies, Risk Factors, Transfection, Voltage-Gated Sodium Channel Blockers, Young Adult, Gastrointestinal Motility, Mutation, Missense, Gastroenterology, Genome-wide association study, Nav1.5, HEK293 Cell, Missense mutation, Irritable bowel syndrome, biology, cardiovascular system, Case-Control Studie, Human, medicine.drug, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Membrane Potential, Article, Channelopathie, DNA Mutational Analysi, Genetic, Mexiletine, Internal medicine, medicine, cardiovascular diseases, Hepatology, business.industry, Risk Factor, Case-control study, medicine.disease, Prospective Studie, Endocrinology, Voltage-Gated Sodium Channel Blocker, Mutation, biology.protein, Missense, business

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6de6db4556c406511980f0953168251fTest
https://doi.org/10.1053/j.gastro.2014.02.054Test

المؤلفون: D'APICE, MARIA ROSARIA, Novelli, A, di Masi, A, BIANCOLELLA, MICHELA, Antoccia, A, GULLOTTA, FRANCESCA, Licata, N, MINELLA, DANIELA, TESTA, BARBARA, Nardone, A, PALMIERI, GIAMPIERO, CALABRESE, EMMA, BIANCONE, LIVIA, Tanzarella, C, FRONTALI, MARINA, SANGIUOLO, FEDERICA CARLA, NOVELLI, GIUSEPPE, PALLONE, FRANCESCO

المساهمون: D'Apice, Mr, Novelli, A, di Masi, A, Biancolella, M, Antoccia, A, Gullotta, F, Licata, N, Minella, D, Testa, B, Nardone, A, Palmieri, G, Calabrese, E, Biancone, L, Tanzarella, C, Frontali, M, Sangiuolo, Fc, Novelli, G, Pallone, F

مصطلحات موضوعية: Adolescent, Apraxia, Child, Preschool, Developmental Disabilitie, Gene Expression Regulation, Genetic Loci, Human, Malabsorption Syndrome, Male, Multigene Family, Phenotype, Pseudogene, Young Adult, Sequence Deletion, Settore MED/03 - GENETICA MEDICA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25927938; info:eu-repo/semantics/altIdentifier/wos/WOS:000352591300001; volume:16; issue:1; firstpage:1; journal:BMC MEDICAL GENETICS; https://hdl.handle.net/2108/166693Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84926682547

الإتاحة: https://doi.org/10.1186/s12881-015-0164-3Test
https://hdl.handle.net/2108/166693Test

المؤلفون: RAPINI, NOVELLA, MANCA BITTI, MARIA LUISA, Lidano, R, Pietrosanti, S, Vitiello, G, Grimaldi, C, Postorivo, D, Nardone, A, Del Bufalo, F, Brancati, F

المساهمون: Rapini, N, Lidano, R, Pietrosanti, S, Vitiello, G, Grimaldi, C, Postorivo, D, Nardone, A, Del Bufalo, F, Brancati, F, MANCA BITTI, Ml

مصطلحات موضوعية: Chromosome Deletion, Diagnosis, Differential, Retinoblastoma Protein, Human, Chromosome Disorder, In Situ Hybridization, Fluorescence, Infant, Newborn, Chromosomes, Pair 13, Phenotype, Liver Neoplasm, Hepatectomy, DNA, Hemangioendothelioma, Genetic Predisposition to Disease, Female, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000331898800001; volume:40; firstpage:5; lastpage:5; journal:THE ITALIAN JOURNAL OF PEDIATRICS; http://hdl.handle.net/2108/102705Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84892429655

الإتاحة: https://doi.org/10.1186/1824-7288-40-5Test
http://hdl.handle.net/2108/102705Test