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المؤلفون: Eugenio Mercuri, Isabella Vasta, Francesca Pantaleoni, Laura Cesarini, Marco Tartaglia, Paolo Mariotti, Daniela Ricci, Marta Cerutti, Angelo Selicorni, Stefano Vicari, Paolo Alfieri, Chiara Leoni, Valentina Petrangeli, Giuseppe Zampino
المصدر: American Journal of Medical Genetics Part A. :140-146
مصطلحات موضوعية: Adult, Male, Proto-Oncogene Proteins B-raf, MAPK/ERK pathway, Adolescent, MAP Kinase Signaling System, Developmental Disabilities, MAP Kinase Kinase 1, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Biology, Gene mutation, medicine.disease_cause, Proto-Oncogene Proteins p21(ras), Young Adult, Costello syndrome, Genetics, medicine, Humans, HRAS, Child, Genetics (clinical), Mutation, Infant, Cognition, medicine.disease, Proto-Oncogene Proteins c-raf, Phenotype, Child, Preschool, ras Proteins, SOS1, Female, KRAS, Cognition Disorders, SOS1 Protein
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المؤلفون: Bruno Dallapiccola, Cristina Digilio, Paola Grammatico, Isabella Vasta, Gianfranco Bocchinfuso, Bruce D. Gelb, Lorenzo Stella, Claudio Carta, Antonio Palleschi, Marco Tartaglia, Antonio Pizzuti, Francesca Pantaleoni, Anna Sarkozy, Giuseppe Zampino
المصدر: The American Journal of Human Genetics. 79:129-135
مصطلحات موضوعية: Models, Molecular, CANCER-THERAPY, FACIO-CUTANEOUS SYNDROME, Molecular Sequence Data, Mutation, Missense, Gene mutation, Biology, Cardiofaciocutaneous syndrome, medicine.disease_cause, SOMATIC PTPN11 MUTATIONS, K-RAS, LEOPARD-SYNDROME, GTP-BINDING, MOUSE MODEL, NF1 GENE, LEUKEMIA, MUTANTS, Report, KRAS, Genetics, medicine, Humans, Missense mutation, Genetics(clinical), KRAS Isoform B, Germline mutations, Germ-Line Mutation, Genetics (clinical), Settore CHIM/02 - Chimica Fisica, DNA Primers, Base Sequence, Autosomal dominant trait, medicine.disease, NOONAN SYNDROME, Genes, ras, Phenotype, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Noonan syndrome, Guanine nucleotide exchange factor, Noonan Syndrome with Multiple Lentigines
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المؤلفون: Emanuele Scarano, Isabella Vasta, Giuseppe Zampino, G. Mennuni, Emma De Feo, Giacomo Della Marca, Pietro Attilio Tonali, Catello Vollono, Mario Rigante, Marco Rubino, Paolo Mariotti
المصدر: American Journal of Medical Genetics Part A. :257-262
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Polysomnography, Central apnea, Nose Neoplasms, Respiratory System, Proto-Oncogene Mas, Nose neoplasm, Intellectual Disability, Internal medicine, COSTELLO SYNDROME, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Genetics (clinical), Sleep Apnea, Obstructive, Sleep disorder, Sleep Stages, Papilloma, medicine.diagnostic_test, business.industry, OSAS, Apnea, Sleep apnea, Syndrome, medicine.disease, Failure to Thrive, Obstructive sleep apnea, Endocrinology, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Anesthesia, Female, medicine.symptom, Costello Syndrome, OSAS, Craniofacial Abnomlies,Polysomnography, business, Craniofacial Abnomlies
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المؤلفون: Giacomo Della Marca, Alessandro Cianfoni, Emanuele Scarano, Giuseppe Zampino, G. Mennuni, Catello Vollono, Isabella Vasta, Pietro Attilio Tonali, Marco Rubino, Paolo Mariotti
المصدر: Movement Disorders. 21:473-478
مصطلحات موضوعية: medicine.medical_specialty, Sleep Stages, Movement disorders, medicine.diagnostic_test, Parasomnia, Polysomnography, Audiology, medicine.disease, Sleep in non-human animals, Non-rapid eye movement sleep, medicine.anatomical_structure, Neurology, Costello syndrome, Tongue, medicine, Neurology (clinical), medicine.symptom, Psychology, Neuroscience
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المؤلفون: Celeste Acquafondata, Domenica Battaglia, Isabella Vasta, Francesco Guzzetta, Charlotte Dravet, Donatella Lettori, Paolo Mariotti, Marcella Zollino, Giovanni Neri, Marika Pane, Giuseppe Zampino
المصدر: Epilepsia. 44:1183-1190
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Longitudinal study, medicine.diagnostic_test, Myoclonic Jerk, Electroencephalography, Neonatal age, medicine.disease, Surgery, Central nervous system disease, Epilepsy, Neurology, El Niño, medicine, Neurology (clinical), Psychology, Wolf–Hirschhorn syndrome
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المؤلفون: Eugenio Mercuri, Marta Cerutti, Marco Tartaglia, Annabella Salerni, Anna Dickmann, D. Ricci, F. Colitto, S. Staccioli, Paolo Alfieri, Francesca Pantaleoni, Chiara Leoni, Giuseppe Zampino, Isabella Vasta, Claudia Brogna, L. Cesarini, Angelo Selicorni
المصدر: Neuropediatrics. 39(6)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Visual perception, genetic structures, Adolescent, Genotype, DNA Mutational Analysis, Vision Disorders, Visual Acuity, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Audiology, LEOPARD Syndrome, Perceptual Disorders, Young Adult, Ocular Motility Disorders, medicine, Humans, Vision test, Child, Depth Perception, business.industry, Vision Tests, Noonan Syndrome, General Medicine, medicine.disease, Crowding, Surgery, PTPN11, Proto-Oncogene Proteins c-raf, Phenotype, Pediatrics, Perinatology and Child Health, Etiology, Visual Perception, Noonan syndrome, Female, Neurology (clinical), Psychomotor Disorders, business, SOS1 Protein, Orthoptic
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b640865f2963fa053913618d86d3c65e
https://pubmed.ncbi.nlm.nih.gov/19568997 -
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المؤلفون: Gustavo Savino, Sergio Petroni, Isabella Vasta, Marcella Zollino, Annabella Salerni, Rosa Parrilla, Giuseppe Zampino, Anna Dickmann
المصدر: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 13(3)
مصطلحات موضوعية: Male, medicine.medical_specialty, genetic structures, Eye Diseases, Genotype, Population, Contiguous gene syndrome, Severity of Illness Index, Ptosis, Ophthalmology, Intellectual Disability, medicine, Exophthalmos, Humans, Hypertelorism, education, Child, Wolf–Hirschhorn syndrome, Chromosomal Deletion, education.field_of_study, business.industry, Wolf-Hirschhorn Syndrome, Glaucoma, WOLF HIRSCHHORN SYNDROME, medicine.disease, Refractive Errors, eye diseases, Microcornea, Surgery, Coloboma, Strabismus, Phenotype, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Pediatrics, Perinatology and Child Health, Microphthalmos, Female, sense organs, medicine.symptom, Chromosome Deletion, Chromosomes, Human, Pair 4, business
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المؤلفون: Anna Leszl, Clelia Tiziana Storlazzi, M. C. Guastadisegni, Isabella Vasta, Pietro D'Addabbo, Angelo Lonoce, Giuseppe Basso, Francesco Albano, Sebastiano Caruso, Luciana Impera, Mariano Rocchi, Ioannis Panagopoulos
المصدر: Molecular Cancer, Vol 7, Iss 1, p 80 (2008)
Molecular Cancerمصطلحات موضوعية: Male, Cancer Research, RNA, Untranslated, Adolescent, Short Communication, Molecular Sequence Data, Gene Expression, Chromosomal translocation, Chimeric gene, Biology, Precursor T-Cell Lymphoblastic Leukemia-Lymphoma, lcsh:RC254-282, Translocation, Genetic, Exon, Bone Marrow, Gene expression, medicine, Humans, In Situ Hybridization, Fluorescence, Base Sequence, Chromosomes, Human, Pair 11, Intron, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, medicine.disease, Molecular biology, medicine.anatomical_structure, Oncology, Chromosomes, Human, Pair 2, Chromosome abnormality, Molecular Medicine, Ectopic expression, Bone marrow
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c4d2f005c7b88224249133d5ebaf171
http://hdl.handle.net/11577/2265253 -
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المؤلفون: Maria Kinali, Marika Pane, Isabella Vasta, Domenica Sorleti, Enrico Bertini, Eugenio Mercuri, Sonia Messina, Federico Sciarra, Fortunato Mangiola, Paola De Rose, Annie Aloysius
المصدر: Neuromuscular disorders : NMD. 18(5)
مصطلحات موضوعية: Adult, medicine.medical_specialty, Adolescent, Population, Nutritional Status, Spinal Muscular Atrophies of Childhood, Weight Gain, Cohort Studies, Feeding and Eating Disorders, Swallowing, Surveys and Questionnaires, medicine, Humans, education, Child, Genetics (clinical), Aged, education.field_of_study, business.industry, Nutritional Support, Malnutrition, Infant, Spinal muscular atrophy, Middle Aged, medicine.disease, SMA, Dysphagia, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Physical therapy, Neurology (clinical), medicine.symptom, business, Deglutition Disorders, Weight gain
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المؤلفون: Isabella Vasta, Bruno Dallapiccola, Francesca Atzeri, Cinzia Neri, Marco Tartaglia, Francesca Pantaleoni, Angelica Bibiana Delogu, Cheryl Cytrynbaum, Giovanni Neri, Emma De Feo, Andrea Ballabio, Anna Sarkozy, Angelo Selicorni, Claudio Carta, Gilda Cobellis, Edgar A. Pogna, Bruce D. Gelb, Katherine A. Rauen, Rosanna Weksberg, Giuseppe Zampino
المساهمون: Zampino, Giuseppe, Pantaleoni, Francesca, Carta, Claudio, Cobellis, Gilda, Vasta, Isabella, Neri, Cinzia, Pogna, Edgar A, De Feo, Emma, Delogu, Angelica, Sarkozy, Anna, Atzeri, Francesca, Selicorni, Angelo, Rauen, Katherine A, Cytrynbaum, Cheryl S, Weksberg, Rosanna, Dallapiccola, Bruno, Ballabio, Andrea, Gelb, Bruce D, Neri, Giovanni, Tartaglia, Marco, Zampino, G, Pantaleoni, F, Carta, C, Cobellis, G, Vasta, I, Neri, C, Pogna, E. A., DE FEO, E, Delogu, A, Sarkozy, A, Atzeri, F, Selicorni, A, Rauen, K. A., Cytrynbaum, C. S., Weksberg, R, Dallapiccola, B, Gelb, B. D., Neri, G, Tartaglia, M.
مصطلحات موضوعية: Parents, Adult, Male, Models, Molecular, DNA Mutational Analysis, Mutation, Missense, Biology, Cardiofaciocutaneous syndrome, medicine.disease_cause, Germline, DNA Mutational Analysi, Germline mutation, Costello syndrome, Genetics, medicine, Humans, Missense mutation, Abnormalities, Multiple, HRAS de novo, HRAS, Genetic Testing, Genetics (clinical), Germ-Line Mutation, Mutation, Infant, Newborn, Infant, Genetic Variation, Syndrome, Middle Aged, medicine.disease, Genes, ra, Pedigree, Genes, ras, Phenotype, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Parent, Child, Preschool, Noonan syndrome, Female, Human
وصف الملف: STAMPA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3f2bf0f7519fc10b5f700cf06d72c48
http://hdl.handle.net/11591/407171
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