المؤلفون: Roberta Pastorino, Eloisa Arbustini, Andrea Faini, Gianfranco Parati, Grzegorz Bilo, Davide Soranna, Antonella Zambon, Sergio Leonardi, Alessandro Gialluisi, Lorenzo Giovanni Mantovani, Walter Ricciardi, Fabio Blandini, Giovanni Scambia, Catherine Klersy, Marialaura Bonaccio, Augusto Di Castelnuovo, Simona Costanzo, Amalia De Curtis, Mariarosaria Persichillo, Chiara Cerletti, Maria Benedetta Donati, Licia Iacoviello, Giuseppe Remuzzi, Camilla Torlasco, Giuseppe Ambrosio, Gabriele Zoppoli, Maria Chiara Grimaldi, Daniela Pedicino, Giovanna Liuzzo, Serena Pelusi, Daniele Prati, Luca Valenti, Francesca Gorini, Maurizio Sanguinetti, Giuseppe Ferrante, Gianluigi Condorelli, Giulio Pompilio, Stefania Boccia, Luigi Badano, Victor Savevski, Tiziana Bachetti, Gian Franco Gensini, Silvano Bosari, Alice Bonanni, Elena Tremoli, Angelo Santoliquido, Stefano Genovese, Sara Boveri, Gianfranco Gensini, Francesco Gianfagna, Italo Porto, Fabio Tuzzolino, Carolina Lombardi, Egidio Traversi, Fabrizio Veglia, Andrea Urbani, Domenico D’Amario, Gaetano Antonio Lanza, Antonio Uccelli, José Pablo Werba, Livio Luzi, Pietro Ameri, Davide Gentilini, Luisa Gilardini, Cecilia Invitti, Maurizio Volterrani, Maria Teresa La Rovere, Giovanni Gentile, Francesco Clemenza, Mario Urtis, Francesca Ieva, Maria Carla Roncaglioni, Valentina Milani, Paola Baiardi, Debora Rosa, Fabiana Madotto, Emilia Ruggiero, Teresa Panzera, Simona Esposito, Sara Magnacca, Fabrizia Noro, Roberta Parisi, Francesca Bracone, Irene Baroni, Damiano Baldassarre, Roberta Baetta, Luigi Frati, Pier Giulio Conaldi, Massimo Fini, Antonio Di Malta, Mauro Amato, Alice Bonomi, Francesca Colazzo, Martino Pengo, Luciana Auteri, Marta Baviera, Alberico Catapano, Alexis Elias Malavazos, Serenella Castelvecchio, Massimiliano Marco Corsi-Romanelli, Rosanna Cardani, Valentina Agnese, Bianca Pane, Laura Spinardi, Marco Visconti, Anna Di Blasio, Luisa Ojeda-Fernández, Andreana Foresta, Simonetta Scalvini, Antonia Pierobon, Alessandra Gorini, Annarosa Racca, Manuela Bandi, Lorenzo Menicanti, Gualtiero Colombo, Chiara Vavassori, Maria Luisa Biondi, Beatrice Frigerio, Alessio Ravani, Daniela Sansaro, Daniela Coggi, Alessandra Romandini, Monica Giroli, Mattia Giuliani, Maurizio Rondinelli, Catia Trudu, Carmen Cinieri, Massimo Monturano, Elisa Perger, Lucia Zanotti, Lidia Cova, Luca Grappiolo, Laura Papa, Ignazio Romano, Luisa Ojeda, Fiorenza Clerici, Angela Palumbo, Roberto Mattioli, Ermanno Longhi, Anwal Ghulam, Sabatino Orlandi, Sabrina Franciosa, Martina Morelli, Fiorella De Rita, Giovanni de Gaetano, Massimiliano MarcoCorsi Romanelli, Ambra Cerri, Carola Dubini, Manuel Bruno Trevisan, Laura Valentina Renna, Paola Giubbilini, Lucia Ramputi, Giada DeAngeli, Francesca Olmetti, Maurizio Bussotti, Carlo Gaetano, Martina Balbi, Laura Comini, Monica Lorenzoni, Adriana Olivares, Camilla Garrè, Riccardo Sideri, Giuseppe Caruana, Nicola Cuscino, Gabriele Di Gesaro, Alessio Greco, Italia Loddo, Domenico Palombo, Giovanni Spinella, Gaddiel Mozzetta, Alice Finotello, Giovanni Pratesi, Margherita Clerici, Cristiana Bianco, Rossana Carpani, Giulia Periti, Sara Margarita, Anna Severino, Alessia D’Aiello, Ramona Vinci, Mattia Brecciaroli, Simone Filomia, Luca Proto, Dalila Tarquini, Arianna Elia, Alessia Currao, Alessandro Di Toro, Lorenzo Giuliani, Giuseppe Caminiti, Federica Marcolongo, Barbara Sposato, Fiorella Guadagni, Valentina Morsella, Angelica Marziale, Giulia Protti

المصدر: BMJ Open, Vol 13, Iss 7 (2023)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

العلاقة: https://bmjopen.bmj.com/content/13/7/e072040.fullTest; https://doaj.org/toc/2044-6055Test

الوصول الحر: https://doaj.org/article/0b48f5d650b049b28dd773c39b063361Test

المؤلفون: Antonella Mosca, Sabrina Cardile, Valerio Nobili, Italia Loddo, Tommaso Alterio, Claire Trayers, Roxana Mardare, Simona Valenti

المصدر: Scandinavian Journal of Gastroenterology. 54:822-829

مصطلحات موضوعية: medicine.medical_specialty, New horizons, business.industry, Incidence (epidemiology), Gastroenterology, Disease, medicine.disease, Immune system, Genetic predisposition, medicine, GERD, Macroscopic Findings, Intensive care medicine, Eosinophilic esophagitis, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5233b3d13b0410ac20de06851bf0b93dTest
https://doi.org/10.1080/00365521.2019.1641214Test

المؤلفون: Tommaso, Alterio, Sabrina, Cardile, Claire, Trayers, Simona, Valenti, Italia, Loddo, Roxana, Mardare, Antonella, Mosca, Valerio, Nobili

المصدر: Scandinavian journal of gastroenterology. 54(7)

مصطلحات موضوعية: Proton Pump Inhibitors, Eosinophilic Esophagitis, Dilatation, Diet, Biological Therapy, Diagnosis, Differential, Esophagus, Esophageal Stenosis, Gastroesophageal Reflux, Humans, Genetic Predisposition to Disease, Endoscopy, Digestive System, Child, Glucocorticoids, Food Hypersensitivity

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::752c047f66ba16c03820883c47075acfTest
https://pubmed.ncbi.nlm.nih.gov/31535579Test

المؤلفون: Chiara Perria, Italia Loddo, Marco Seri, Milena Crippa, Stefano Sotgiu, Maria Piccione, Marina Frontali, Lidia Larizza, Elisa Biamino, Palma Finelli, Pamela Magini, Maria Chiara Gandini, Elisa Colombo, Gloria Negri, Antonella Boni, Donatella Milani, Tommaso Pippucci, Michael J. Bamshad, Deborah A. Nickerson, Joshua D. Smith, Elisabetta Di Fede, Cristina Gervasini, Giuseppina Vitiello

المساهمون: Negri G., Magini P., Milani D., Crippa M., Biamino E., Piccione M., Sotgiu S., Perria C., Vitiello G., Frontali M., Boni A., Di Fede E., Gandini M.C., Colombo E.A., Bamshad M.J., Nickerson D.A., Smith J.D., Loddo I., Finelli P., Seri M., Pippucci T., Larizza L., Gervasini C., Negri, Gloria, Magini, Pamela, Milani, Donatella, Crippa, Milena, Biamino, Elisa, Piccione, Maria, Sotgiu, Stefano, Perrìa, Chiara, Vitiello, Giuseppina, Frontali, Marina, Boni, Antonella, Di Fede, Elisabetta, Gandini, Maria Chiara, Colombo, Elisa Adele, Bamshad, Michael J., Nickerson, Deborah A., Smith, Joshua D., Loddo, Italia, Finelli, Palma, Seri, Marco, Pippucci, Tommaso, Larizza, Lidia, Gervasini, Cristina

المصدر: Human genetics (Berl., Internet) 138 (2019). doi:10.1007/s00439-019-01985-y
info:cnr-pdr/source/autori:Negri G.; Magini P.; Milani D.; Crippa M.; Biamino E.; Piccione M.; Sotgiu S.; Perria C.; Vitiello G.; Frontali M.; Boni A.; Di Fede E.; Gandini M.C.; Colombo E.A.; Bamshad M.J.; Nickerson D.A.; Smith J.D.; Loddo I.; Finelli P.; Seri M.; Pippucci T.; Larizza L.; Gervasini C./titolo:Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders/doi:10.1007%2Fs00439-019-01985-y/rivista:Human genetics (Berl., Internet)/anno:2019/pagina_da:/pagina_a:/intervallo_pagine:/volume:138

مصطلحات موضوعية: Male, Genetic Association Studie, Compound heterozygosity, Whole Exome Sequencing, Article, Epigenesis, Genetic, 03 medical and health sciences, whole exome sequencing, Rubinstein–Taybi syndrome, epigenetic mutations, Exome Sequencing, Genetics, medicine, Humans, Epigenetics, EP300, Child, Genetics (clinical), Exome sequencing, Genetic Association Studies, 030304 developmental biology, Rubinstein-Taybi Syndrome, 0303 health sciences, Comparative Genomic Hybridization, biology, Rubinstein–Taybi syndrome, 030305 genetics & heredity, Infant, Newborn, Facies, Infant, medicine.disease, Facie, CREB-Binding Protein, Human genetics, RSTS, KMT2A, Phenotype, Child, Preschool, Mutation, biology.protein, Neurodegenerative disorders, Female, Haploinsufficiency, E1A-Associated p300 Protein, Human

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79b58bb8a4feb84f9d64f01e19f9ae2aTest
https://pubmed.ncbi.nlm.nih.gov/30806792Test

المؤلفون: A. Salpietro, Claudio Romano, Marco Sciveres, Silvana Briuglia, Maria Concetta Cutrupi, Romina Gallizzi, Italia Loddo, Valeria Ferraù, Silvia Riva

المصدر: European Journal of Medical Genetics. 58:188-190

مصطلحات موضوعية: Mutation, Missense, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Autoimmune hepatitis, PTPN11, medicine.disease_cause, Autoimmune Diseases, Autoimmunity, Liver disease, Prednisone, Noonan syndrome, RASopathies, Genetics, medicine, Humans, Child, Genetics (clinical), Chromosomes, Human, Pair 12, business.industry, Liver Diseases, Noonan Syndrome, Autoantibody, Autosomal dominant trait, Exons, General Medicine, medicine.disease, Phenotype, Immunoglobulin G, Immunology, Female, business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac9d8944f72b775f09446920749565fcTest
https://doi.org/10.1016/j.ejmg.2014.12.013Test

المؤلفون: Claudio Romano, Italia Loddo

المصدر: Frontiers in Immunology, Vol 6 (2015)
Frontiers in Immunology

مصطلحات موضوعية: lcsh:Immunologic diseases. Allergy, Crohn’s disease, Candidate gene, Mini Review, Immunology, IBD, early-onset IBD, Disease, Biology, Bioinformatics, Inflammatory bowel disease, Crohn's disease, early-onset IBD, epigenetics, genetics, IBD, inflammatory bowel disease, immunology and allergy, immunology, inflammatory bowel disease, medicine, Genetic predisposition, genetics, immunology and allergy, Allele frequency, Genetic association, Epigenomics, Genetics, Crohn's disease, epigenetics, medicine.disease, Inflammatory Bowel Diseases, Early Onset IBD, digestive system diseases, lcsh:RC581-607

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da6b1d5d81dee6d352d7ee9190118145Test

المؤلفون: Andrea Chiaro, Italia Loddo, D. Comito, Valeria Ferraù, Claudio Romano

المصدر: Current Clinical Pharmacology. 6:41-47

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Lansoprazole, Esomeprazole, law.invention, Gastric Acid, Randomized controlled trial, law, Proton Pump Inhibitors, Children, Animals, Humans, Medicine, Pharmacology (medical), General Pharmacology, Toxicology and Pharmaceutics, Esophagus, Child, Omeprazole, business.industry, fungi, Age Factors, Infant, General Medicine, medicine.disease, digestive system diseases, Chronic cough, medicine.anatomical_structure, Child, Preschool, Regurgitation (digestion), Gastroesophageal Reflux, GERD, medicine.symptom, business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94256f58809b3f3238fe4f8b143c573dTest
https://doi.org/10.2174/157488411794941296Test

المؤلفون: Giulia Severi, Emilio Franzoni, Pamela Magini, Silvana Briuglia, Barbara Buldrini, Maria Lisa Dentici, Teresa Arrigo, Italia Loddo, Antonio Novelli, Claudio Graziano, Laura Bernardini, Duccio Maria Cordelli, Stefania Bigoni, Sergio Fini, Eleonora Italyankina

المساهمون: Severi, Giulia, Bernardini, Laura, Briuglia, Silvana, Bigoni, Stefania, Buldrini, Barbara, Magini, Pamela, Dentici, Maria L., Cordelli, Duccio M., Arrigo, Teresa, Franzoni, Emilio, Fini, Sergio, Italyankina, Eleonora, Loddo, Italia, Novelli, Antonio, Graziano, Claudio

المصدر: American journal of medical genetics. Part A. (1)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Temple syndrome, Adolescent, Genotype, Nails, Malformed, Locus (genetics), 030105 genetics & heredity, Biology, Bioinformatics, YY1, Thyroid cancer, 03 medical and health sciences, Young Adult, Genetic, 14q32 deletion, Risk Factors, Intellectual Disability, Genetics, medicine, Humans, Thyroid Neoplasms, Young adult, Thyroid Neoplasm, Genetics (clinical), Loss function, DIO3, Chromosomes, Human, Pair 14, Comparative Genomic Hybridization, DLK1, Risk Factor, medicine.disease, Phenotype, Thumb, Hallux, Female, Chromosome Deletion, Haploinsufficiency, Human, Comparative genomic hybridization

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::436d1018950e170b9af3899787164a76Test
https://pubmed.ncbi.nlm.nih.gov/26333654Test

المؤلفون: Martino Ruggieri, Laura Bernardini, Teresa Arrigo, Italia Loddo, Vincenzo Salpietro, Antonio Novelli, Emanuela Moschella, Kshitij Mankad, Francesca Granata, Anna Capalbo, Maria Pia Calabrò, Agata Polizzi, Silvana Briuglia, Gabriella Di Rosa, Daniela G. Seidler

المصدر: American journal of medical genetics. Part A 167 (2015): 2042–2051. doi:10.1002/ajmg.a.37118
info:cnr-pdr/source/autori:Salpietro, Vincenzo; Ruggieri, Martino; Mankad, Kshitij; Di Rosa, Gabriella; Granata, Francesca; Loddo, Italia; Moschella, Emanuela; Calabro, Maria Pia; Capalbo, Anna; Bernardini, Laura; Novelli, Antonio; Polizzi, Agata; Seidler, Daniela G.; Arrigo, Teresa; Briuglia, Silvana/titolo:A De Novo 0.63 Mb 6q25.1 Deletion Associated with Growth Failure, Congenital Heart Defect, Underdeveloped Cerebellar Vermis, Abnormal Cutaneous Elasticity and Joint Laxity/doi:10.1002%2Fajmg.a.37118/rivista:American journal of medical genetics. Part A/anno:2015/pagina_da:2042/pagina_a:2051/intervallo_pagine:2042–2051/volume:167

مصطلحات موضوعية: Heart Defects, Congenital, Joint Instability, cerebellar hypoplasia, Developmental Disabilities, growth retardation, Heart defect, Biology, Long arm, arrhythmia, Joint laxity, congenital heart defect, IUGR, Genetics, medicine, Humans, Abnormalities, Multiple, 6q deletion, 6q25 syndrome, Ehlers-Danlos syndrome, LATS1, TAB2, UST, Child, Genetics (clinical), Cartilage, Deletion breakpoint, Anatomy, medicine.disease, Phenotype, Arrhythmia, Cerebellar hypoplasia, Congenital heart defect, Growth retardation, Elasticity, medicine.anatomical_structure, Ehlers–Danlos syndrome, Cerebellar vermis, Chromosomes, Human, Pair 6, Female, Chromosome Deletion, Cerebellar Vermis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83746c93211c4bb76d0e6bf78db40279Test
http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.37118/epdfTest

المؤلفون: FERRAU', VALERIA, Paolo Rossi, Annalisa Famiani, Antonella Talenti, Italia Loddo, Claudio Romano

المساهمون: Ferrau', Valeria, Paolo, Rossi, Annalisa, Famiani, Antonella, Talenti, Italia, Loddo, Romano, Claudio

العلاقة: firstpage:10; lastpage:10; journal:RIVISTA ITALIANA DI GENETICA E IMMUNOLOGIA PEDIATRICA; http://hdl.handle.net/11570/1903535Test

الإتاحة: http://hdl.handle.net/11570/1903535Test