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1دورية أكاديمية
المؤلفون: Ha Trang, Martin Samuels, Isabella Ceccherini, Matthias Frerick, Maria Angeles Garcia-Teresa, Jochen Peters, Johannes Schoeber, Marek Migdal, Agneta Markstrom, Giancarlo Ottonello, Raffaele Piumelli, Maria Helena Estevao, Irena Senecic-Cala, Barbara Gnidovec-Strazisar, Andreas Pfleger, Raquel Porto-Abal, Miriam Katz-Salamon
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-21 (2020)
مصطلحات موضوعية: Central hypoventilation, Dysautonomia, Hirschsprung disease, Neural crest tumour, Long-term ventilation, PHOX2B, Medicine
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13023-020-01460-2Test; https://doaj.org/toc/1750-1172Test
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2دورية أكاديمية
المؤلفون: Tiziana Bachetti, Simona Bagnasco, Raffaele Piumelli, Antonella Palmieri, Isabella Ceccherini
المصدر: Frontiers in Neurology, Vol 12 (2021)
مصطلحات موضوعية: PHOX2B, sudden infant death syndrome, idiopathic apparent life threatening event, miR-204, gene expression regulation, sudden unexpected infant death, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2021.642735/fullTest; https://doaj.org/toc/1664-2295Test
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3دورية أكاديمية
المؤلفون: Simona Di Lascio, Tiziana Bachetti, Elena Saba, Isabella Ceccherini, Roberta Benfante, Diego Fornasari
المصدر: Neurobiology of Disease, Vol 50, Iss , Pp 187-200 (2013)
مصطلحات موضوعية: Congenital central hypoventilation syndrome, PHOX2B, Polyalanine mutations, Dominant-negative, DNA binding, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S0969996112003476Test; https://doaj.org/toc/1095-953XTest
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4دورية أكاديمية
المؤلفون: Eleonora Di Zanni, Tiziana Bachetti, Sara Parodi, Paola Bocca, Ignazia Prigione, Simona Di Lascio, Diego Fornasari, Roberto Ravazzolo, Isabella Ceccherini
المصدر: Neurobiology of Disease, Vol 45, Iss 1, Pp 508-518 (2012)
مصطلحات موضوعية: Congenital Central Hypoventilation Syndrome, PHOX2B, Polyalanine expansions, Intracytoplasmic aggregates, Drug treatment, 17-AAG, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S0969996111003172Test; https://doaj.org/toc/1095-953XTest
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5مؤتمر
المؤلفون: Tiziana Bachetti (361249), Simona Bagnasco (10328222), Raffaele Piumelli (9404116), Antonella Palmieri (10328225), Isabella Ceccherini (361261)
مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, PHOX2B, sudden infant death syndrome, idiopathic apparent life threatening event, miR-204, gene expression regulation, sudden unexpected infant death
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6مؤتمر
المؤلفون: Tiziana Bachetti, Simona Bagnasco, Raffaele Piumelli, Antonella Palmieri, Isabella Ceccherini
مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, PHOX2B, sudden infant death syndrome, idiopathic apparent life threatening event, miR-204, gene expression regulation, sudden unexpected infant death
الإتاحة: https://doi.org/10.3389/fneur.2021.642735.s002Test
https://figshare.com/articles/presentation/Presentation_1_A_Common_3_UTR_Variant_of_the_PHOX2B_Gene_Is_Associated_With_Infant_Life-Threatening_and_Sudden_Death_Events_in_the_Italian_Population_PPT/14246384Test -
7دورية أكاديمية
المؤلفون: Patrizia Perri, Mirco Ponzoni, Maria Valeria Corrias, Isabella Ceccherini, Simona Candiani, Tiziana Bachetti
المصدر: Cancers; Volume 13; Issue 21; Pages: 5528
مصطلحات موضوعية: neuroblastoma, microRNAs, transcription factors, miR-34, let-7, miR-204, MYCN, PHOX2B, ALK, LIN28B
وصف الملف: application/pdf
العلاقة: Cancer Biomarkers; https://dx.doi.org/10.3390/cancers13215528Test
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8
المؤلفون: Isabella Ceccherini, Tiziana Bachetti
المصدر: Clinical Genetics. 97:103-113
مصطلحات موضوعية: 0301 basic medicine, Hirschsprung disease, Nonsense mutation, polyalanine expansion, 030105 genetics & heredity, Congenital central hypoventilation syndrome, Biology, Autonomic Nervous System, PHOX2B, Frameshift mutation, neuroblastoma, 03 medical and health sciences, Exon, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Genetics (clinical), Homeodomain Proteins, Genetic heterogeneity, synonymous mutations, Infant, Newborn, Hypoventilation, Sudden infant death syndrome, medicine.disease, Sleep Apnea, Central, congenital central hypoventilation syndrome, 030104 developmental biology, Mutation, congenital central hypoventilation syndrome, Hirschsprung disease, neuroblastoma, phenotypic spectrum, PHOX2B, polyalanine expansion, synonymous mutations, Synonymous substitution, Gene Deletion, Sudden Infant Death, phenotypic spectrum, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77218ad460e52872b01b8b1af5c1a55bTest
https://doi.org/10.1111/cge.13633Test -
9
المؤلفون: Tiziana, Bachetti, Simona, Bagnasco, Raffaele, Piumelli, Antonella, Palmieri, Isabella, Ceccherini
المصدر: Frontiers in Neurology
مصطلحات موضوعية: sudden infant death syndrome, idiopathic apparent life threatening event, Neurology, sudden unexpected infant death, miR-204, gene expression regulation, PHOX2B, Original Research
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::bd68a132a1f3105fb7821e61c9e0edf9Test
https://pubmed.ncbi.nlm.nih.gov/33815256Test -
10
المؤلفون: Agneta Markstrom, Jochen Peters, Giancarlo Ottonello, Ha Trang, Johannes Schoeber, María Ángeles García-Teresa, Martin Samuels, Isabella Ceccherini, Matthias Frerick, Barbara Gnidovec-Strazisar, Marek Migdal, Andreas Pfleger, Raquel Porto-Abal, Maria Helena Estevao, Irena Senecic-Cala, Raffaele Piumelli, Miriam Katz-Salamon
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-21 (2020)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Adult, Pediatrics, medicine.medical_specialty, Hirschsprung disease, lcsh:Medicine, Review, Disease, Neonatal onset, Congenital central hypoventilation syndrome, PHOX2B, Alveolar hypoventilation, 03 medical and health sciences, 0302 clinical medicine, Long-term ventilation, Humans, Medicine, Pharmacology (medical), Child, Genetics (clinical), Homeodomain Proteins, business.industry, lcsh:R, Dysautonomia, Hypoventilation, General Medicine, medicine.disease, Sleep Apnea, Central, Neural crest tumour, Human genetics, Central hypoventilation, 030228 respiratory system, Control of respiration, Mutation, medicine.symptom, business, 030217 neurology & neurosurgery, Transcription Factors, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2209baa81c724d19d692eed169c5dee7Test
https://doi.org/10.1186/s13023-020-01460-2Test