المؤلفون: Antonia Assunto, Ursula Ferrara, Alessandro De Luca, Claudia Pivonello, Lisa Lombardo, Annapina Piscitelli, Cristina Tortora, Valentina Pinna, Paola Daniele, Rosario Pivonello, Maria Giovanna Russo, Giuseppe Limongelli, Annamaria Colao, Marco Tartaglia, Pietro Strisciuglio, Daniela Melis

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)

مصطلحات موضوعية: NF1, Neurofibromatosis type 1, Alternative splicing, Gene expression, mRNA isoforms, Phenotypic expressivity, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-019-1223-1Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/5c639a6a498f4a9192924c7c0741b664Test

المؤلفون: Valentina Pinna, Paola Daniele, Giulio Calcagni, Lucio Mariniello, Roberta Criscione, Chiara Giardina, Francesca Romana Lepri, Hossein Hozhabri, Angela Alberico, Stefania Cavone, Annunziata Tina Morella, Roberta Mandile, Francesca Annunziata, Niccolò Di Giosaffatte, Maria Cecilia D’Asdia, Paolo Versacci, Rossella Capolino, Pietro Strisciuglio, Sandra Giustini, Daniela Melis, Maria Cristina Digilio, Marco Tartaglia, Bruno Marino, Alessandro De Luca

المصدر: Genes, Vol 10, Iss 9, p 675 (2019)

مصطلحات موضوعية: neurofibromatosis type 1, congenital heart disease, pulmonary valve stenosis, non-truncating mutation, Noonan syndrome, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/10/9/675Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/fd8483b3d5e14404b7f5d130dbf395ddTest

المؤلفون: Paolo Sordino, Nikos Andreakis, Euan R Brown, Nicola I Leccia, Paola Squarzoni, Raffaella Tarallo, Christian Alfano, Luigi Caputi, Palmira D'Ambrosio, Paola Daniele, Enrico D'Aniello, Salvatore D'Aniello, Sylvie Maiella, Valentina Miraglia, Monia Teresa Russo, Gerarda Sorrenti, Margherita Branno, Lucio Cariello, Paola Cirino, Annamaria Locascio, Antonietta Spagnuolo, Laura Zanetti, Filomena Ristoratore

المصدر: PLoS ONE, Vol 3, Iss 6, p e2344 (2008)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC2391289?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/00a524f5d0c847d1ad85f031b54830cfTest

المؤلفون: Christina Lissewski, Valérie Chune, Francesca Pantaleoni, Alessandro De Luca, Yline Capri, Julia Brinkmann, Francesca Lepri, Paola Daniele, Erika Leenders, Laura Mazzanti, Emanuela Scarano, Francesca Clementina Radio, Kerstin Kutsche, Alma Kuechler, Marion Gérard, Kara Ranguin, Marine Legendre, Yoann Vial, Ineke van der Burgt, Tuula Rinne, Elena Andreucci, Gioia Mastromoro, Maria Cristina Digilio, Hélène Cave, Marco Tartaglia, Martin Zenker

المساهمون: Lissewski, Christina, Chune, Valérie, Pantaleoni, Francesca, De Luca, Alessandro, Capri, Yline, Brinkmann, Julia, Lepri, Francesca, Daniele, Paola, Leenders, Erika, Mazzanti, Laura, Scarano, Emanuela, Clementina Radio, Francesca, Kutsche, Kerstin, Kuechler, Alma, Gérard, Marion, Ranguin, Kara, Legendre, Marine, Vial, Yoann, van der Burgt, Ineke, Rinne, Tuula, Andreucci, Elena, Mastromoro, Gioia, Cristina Digilio, Maria, Cave, Hélène, Tartaglia, Marco, Zenker, Martin

مصطلحات موضوعية: Noonan syndrome, SOS2, lymphatic system

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32788663; info:eu-repo/semantics/altIdentifier/wos/WOS:000559365600002; volume:29; issue:1; firstpage:51; lastpage:60; numberofpages:10; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11573/1669254Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089311939

الإتاحة: https://doi.org/10.1038/s41431-020-00708-6Test
https://hdl.handle.net/11573/1669254Test

المؤلفون: Gioia Mastromoro, Alma Kuechler, Francesca Clementina Radio, Yoann Vial, Elena Andreucci, Tuula Rinne, Erika Leenders, Kara Ranguin, Emanuela Scarano, Marine Legendre, Marion Gérard, Julia Brinkmann, Alessandro De Luca, Paola Daniele, Kerstin Kutsche, Francesca Pantaleoni, Ineke van der Burgt, Christina Lissewski, Maria Cristina Digilio, Hélène Cavé, Yline Capri, Valérie Chune, Francesca Romana Lepri, Martin Zenker, Marco Tartaglia, Laura Mazzanti

المساهمون: Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany, Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), IRCCS Ospedale Pediatrico Bambino Gesù [Roma], Istituto di Ricovero e Cura a Carattere Scientifico, Ospedale Casa Sollievo della Sofferenza [San Giovanni Rotondo] (IRCCS), Institute of Human Genetics (University Hospital Magdeburg), University Hospital of the Otto von Guericke University of Magdeburg, Radboud University Medical Center [Nijmegen], St. Orsola University Hospital, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), Institut für Humangenetik, Universitätsklinikum Essen, Essen, Service de Génétique [CHU Caen], CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Université de Caen Normandie (UNICAEN), Normandie Université (NU), Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU), Hôpital Pellegrin, CHU de Bordeaux, Institut de Recherche Saint-Louis - Hématologie Immunologie Oncologie (Département de recherche de l’UFR de médecine, ex- Institut Universitaire Hématologie-IUH) (IRSL), Université de Paris (UP), Hôpital Robert Debré Paris, Hôpital Robert Debré, Anna Meyer Children's Hospital Florence, University of Florence, Department of Experimental Medicine, Sapienza University of Rome (Italy)

المصدر: European Journal of Human Genetics, 29, 1, pp. 51-60
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2021, 29 (1), pp.51-60. ⟨10.1038/s41431-020-00708-6⟩
European Journal of Human Genetics, 29, 51-60
Eur J Hum Genet

مصطلحات موضوعية: Adult, Male, Adolescent, Medizin, Bioinformatics, Short stature, Article, Mapk signaling pathway, Lymphatic System, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Genotype, Genetics, Humans, Medicine, In patient, Child, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), [SDV.GEN]Life Sciences [q-bio]/Genetics, 0303 health sciences, Protein function, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, Noonan Syndrome, 030305 genetics & heredity, Infant, medicine.disease, Phenotype, 3. Good health, Lymphatic system, Child, Preschool, Son of Sevenless Proteins, Mutation, Noonan syndrome, Female, medicine.symptom, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::648a766f5990e548ed19dfb044cd9e7aTest
https://doi.org/10.1038/s41431-020-00708-6Test

المؤلفون: Giulio Piluso, Paola Daniele, Roberta Mandile, Alessandro De Luca, Carmen Rosano, Marialetizia Motta, Luca Pannone, Valentina Pinna, Antonia Assunto, Claudia Santoro, Daniela Melis, Alessandra D'Amico, Maria Siano, Lorenzo Ugga, Lucio Mariniello, Simone Martinelli, Pietro Strisciuglio, Marco Tartaglia

مصطلحات موضوعية: PTPN11, Pathology, medicine.medical_specialty, business.industry, medicine, Brain mri, Neurofibromatosis, medicine.disease, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5261dc2b396cbe2a35d273361ad11e53Test
https://doi.org/10.1111/cge.14040/v2/response1Test

المؤلفون: Luca Pannone, Daniela Melis, Marco Tartaglia, Lucio Mariniello, Alessandra D'Amico, Valentina Pinna, Giulio Piluso, Antonia Assunto, Carmen Rosano, Claudia Santoro, Paola Daniele, Marialetizia Motta, Lorenzo Ugga, Simone Martinelli, Pietro Strisciuglio, Maria Siano, Alessandro De Luca, Roberta Mandile

المساهمون: D'Amico, A., Rosano, C., Pannone, L., Pinna, V., Assunto, A., Motta, M., Ugga, L., Daniele, P., Mandile, R., Mariniello, L., Siano, M. A., Santoro, C., Piluso, G., Martinelli, S., Strisciuglio, P., De Luca, A., Tartaglia, M., Melis, D.

مصطلحات موضوعية: Male, Models, Molecular, Protein Conformation, DNA Mutational Analysis, Regulator, Protein Tyrosine Phosphatase, Non-Receptor Type 11, PTPN11, Models, Missense mutation, Noonan syndrome, Child, Genetics (clinical), Genetics, genetic modifier, Massive parallel sequencing, biology, Brain, Magnetic Resonance Imaging, Pedigree, Phenotype, Female, MRI, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Adolescent, Mutation, Missense, RASopathy, Non-Receptor Type 11, Structure-Activity Relationship, Genes, Neurofibromatosis 1, medicine, Humans, Family, Genetic Predisposition to Disease, Neurofibromatosis, Genetic Association Studies, Molecular, genetic modifiers, medicine.disease, Neurofibromin 1, nervous system diseases, NF1, Mutation, Genes, biology.protein, Protein Tyrosine Phosphatase, Missense

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::375a98da083f71607fc5cc7491dd89a8Test
http://hdl.handle.net/11591/454719Test

المؤلفون: Laura Papi, Enrico Grosso, Fabio Sirchia, Giuseppe Damante, Chiara Di Marco, Marco Tartaglia, Paola Daniele, Teresa Mattina, Francesca Clementina Radio, Sara Corno, Valentina Pinna, Ilaria Donati, Alexandra Scott, Annabella Marozza, Daniela Mangiameli, Elena Andreucci, Marie Ange Delrue, Tommaso Mazza, Antonella Giancotti, Giada Tortora, Antonio Pizzuti, Maria Romagnoli, Gioia Mastromoro, Paolo Versacci, Valentina D'Ambrosio, Francesca Pantaleoni, Valeria Giorgia Naretto, Niccolò Di Giosaffatte, Andrea Zonta, Alessandro De Luca, Anne-Marie Laberge

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(6)

مصطلحات موضوعية: Heart Defects, Congenital, Polyhydramnios, medicine.medical_specialty, RASopathy, Ultrasonography, Prenatal, Cohort Studies, Congenital, Fetus, Pregnancy, medicine, Prenatal, Humans, HRAS, Increased nuchal translucency, Genetics (clinical), Genetic Association Studies, Ultrasonography, Heart Defects, business.industry, Obstetrics, Hypertrophic cardiomyopathy, Cystic hygroma, medicine.disease, Female, Transcription Factors, Nuchal Translucency Measurement, Dysplasia, Cohort, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b448c4b071f3eb5cb107ce15e7b6d7b5Test
https://pubmed.ncbi.nlm.nih.gov/33568805Test

المؤلفون: Valentina Pinna 1, †, Paola Daniele 1, Giulio Calcagni 2, Lucio Mariniello 3, Roberta Criscione 1, 4, Chiara Giardina 1, Francesca Romana Lepri 5, Hossein Hozhabri 1, Angela Alberico 1, Stefania Cavone 1, Annunziata Tina Morella 1, Roberta Mandile 3, Francesca Annunziata 1, Niccolò Di Giosaffatte 1, Maria Cecilia D’Asdia 1, Paolo Versacci 4, Rossella Capolino 5, Pietro Strisciuglio 3, Sandra Giustini 6, Melis Daniela, Maria Cristina Digilio 5, Marco Tartaglia 5, Bruno Marino 4 and Alessandro De Luca 1

المساهمون: Valentina Pinna, 1, †, Paola Daniele, 1, Giulio Calcagni, 2, Lucio Mariniello, 3, Roberta Criscione, 1, 4, Chiara Giardina, 1, Francesca Romana Lepri, 5, Hossein Hozhabri, 1, Angela Alberico, 1, Stefania Cavone, 1, Annunziata Tina Morella, 1, Roberta Mandile, 3, Francesca Annunziata, 1, Niccolò Di Giosaffatte, 1, Maria Cecilia D’Asdia, 1, Paolo Versacci, 4, Rossella Capolino, 5, Pietro Strisciuglio, 3, Sandra Giustini, 6, Melis, Daniela, Maria Cristina Digilio, 5, Marco Tartaglia, 5, Bruno Marino, 4 and Alessandro De Luca 1

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000487954700065; firstpage:1; lastpage:14; numberofpages:14; journal:GENES; http://hdl.handle.net/11386/4732058Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85071740488

الإتاحة: http://hdl.handle.net/11386/4732058Test

المؤلفون: DI PAOLA, DANIELE

المساهمون: Vaglini, Gigliola, Cimino, Mario Giovanni Cosimo Antonio, Martini, Antonella

المصدر: http://etd.adm.unipi.it/theses/available/etd-11252013-135538Test/.

مصطلحات موضوعية: INGEGNERIA DELL'INFORMAZIONE

وصف الملف: application/pdf

العلاقة: http://etd.adm.unipi.it/theses/available/etd-11252013-135538Test/

الإتاحة: http://etd.adm.unipi.it/theses/available/etd-11252013-135538Test/