المؤلفون: A. Lapolla, G. Di Cianni, A. Di Benedetto, I. Franzetti, A. Napoli, L. Sciacca, E. Torlone, L. Tonutti, E. Vitacolonna, D. Mannino

المصدر: International Journal of Endocrinology, Vol 2012 (2012)

مصطلحات موضوعية: Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1687-8337; https://doaj.org/toc/1687-8345

URL الوصول: https://doaj.org/article/6bf4b782eceb4ef9b828997499c9fa7f

المؤلفون: Camilla Meossi, Alessia Carrer, Claudia Ciaccio, Laura Pezzoli, Lidia Pezzani, Rosa Maria Silipigni, Francesca L. Sciacca, Romano Tenconi, Silvia Esposito, Arianna De Laurentiis, Chiara Pantaleoni, Paola Marchisio, Federica Natacci, Stefano D’Arrigo, Maria Iascone, Donatella Milani

المصدر: Genes ; Volume 15 ; Issue 11 ; Pages: 1441

مصطلحات موضوعية: 15q11.2 microdeletion, 15q11.2 microduplication, BP1-BP2 CNVs, exome sequencing, alternative diagnosis, double diagnosis, rare diseases

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes15111441

الاتاحة: https://doi.org/10.3390/genes15111441

المؤلفون: Camille Peron, Andrea Cavaliere, Chiara Fasano, Angelo Iannielli, Manuela Spagnolo, Andrea Legati, Maria Nicol Colombo, Ambra Rizzo, Francesca L. Sciacca, Valerio Carelli, Vania Broccoli, Costanza Lamperti, Valeria Tiranti

المصدر: Stem Cell Research, Vol 77, Iss , Pp 103406- (2024)

مصطلحات موضوعية: Biology (General), QH301-705.5

Relation: http://www.sciencedirect.com/science/article/pii/S1873506124001041; https://doaj.org/toc/1873-5061; https://doaj.org/article/ef6d717e79284050a843ebbd78811d1e

الاتاحة: https://doi.org/10.1016/j.scr.2024.103406
https://doaj.org/article/ef6d717e79284050a843ebbd78811d1e

المؤلفون: Sara Hafdaoui, Claudia Ciaccio, Barbara Castellotti, Francesca L. Sciacca, Chiara Pantaleoni, Stefano D'Arrigo

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: FRMD7, idiopathic nystagmus, Turner syndrome, X-linked IIN, X-linked nystagmus, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1199095/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/24af25f031fb42cda4b7583c25f6b092

المؤلفون: Camille Peron, Roberta Mauceri, Angelo Iannielli, Andrea Cavaliere, Andrea Legati, Ambra Rizzo, Francesca L. Sciacca, Vania Broccoli, Valeria Tiranti

المصدر: Stem Cell Research, Vol 50, Iss , Pp 102151- (2021)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506120304529; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/1ecd85330db0486787a1ffd81c908580

المؤلفون: Camille Peron, Roberta Mauceri, Tommaso Cabassi, Alice Segnali, Alessandra Maresca, Angelo Iannielli, Ambra Rizzo, Francesca L. Sciacca, Vania Broccoli, Valerio Carelli, Valeria Tiranti

المصدر: Stem Cell Research, Vol 48, Iss , Pp 101939- (2020)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506120302403; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/44ae5fd09fa54f248c15c90512760a54

المؤلفون: Francesca L. Sciacca, Claudia Ciaccio, Federica Fontana, Camilla Strano, Francesca Gilardoni, Chiara Pantaleoni, Stefano D’Arrigo

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: 15q21.2 microdeletion, infantile developmental disorder with cardiac arrhythmias (IDDCA), GNB5, BCL2L10, MYO5C, epileptic encephalopathy, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2020.00399/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/0d5642eb0c884dc1b2430e749c28bd2a

المؤلفون: Laura Canafoglia, Federica Zibordi, Francesco Deleo, Gionata Strigaro, Claudia Varrasi, Claudia Ciaccio, Nardo Nardocci, Ferruccio Panzica, Silvana Franceschetti, Francesca L. Sciacca

المصدر: European Journal of Paediatric Neurology. 44:25-27

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Neurology (clinical), General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b350e6dfe625a88f10bfd111606f53b5
https://doi.org/10.1016/j.ejpn.2023.03.001

المؤلفون: C. Meossi, A. Carrer, C. Ciaccio, M. Estienne, R. Silipigni, F. L. Sciacca, C. Pantaleoni, S. D'Arrigo, D. Milani

المصدر: Journal of Intellectual Disability Research.

مصطلحات موضوعية: Psychiatry and Mental health, Neurology, Arts and Humanities (miscellaneous), Rehabilitation, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::af5f1e29736e09b57044cf020e94ed27
https://doi.org/10.1111/jir.13038

المؤلفون: A. Natalicchio, M. Montagnani, M. Gallo, N. Marrano, A. Faggiano, M.C. Zatelli, R. Mazzilli, A. Argentiero, R. Danesi, S. D’Oronzo, S. Fogli, D. Giuffrida, S. Gori, A. Ragni, V. Renzelli, A. Russo, T. Franchina, E. Tuveri, L. Sciacca, M. Monami, G. Cirino, G. Di Cianni, A. Colao, A. Avogaro, S. Cinieri, N. Silvestris, F. Giorgino

مصطلحات موضوعية: Cancer Research, Oncology, miRNAs, cancer, type 2 diabetes, miRNA-based drugs

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56e3879a980ea25b0cec710d6a54f6bf
https://hdl.handle.net/20.500.11769/564330

المؤلفون: Stefano D'Arrigo, Chiara Pantaleoni, Claudia Ciaccio, Donatella Milani, Enrico Alfei, Francesca L. Sciacca, Laura Canafoglia, Alessandra Erbetta

المصدر: American Journal of Medical Genetics Part A. 182:2317-2324

مصطلحات موضوعية: Male, Potocki–Lupski syndrome, Pediatrics, medicine.medical_specialty, Adolescent, Developmental Disabilities, Chromosome Disorders, Electroencephalography, Intellectual Disability, Chromosome Duplication, Intellectual disability, Genetics, Humans, Medicine, Abnormalities, Multiple, Cognitive Dysfunction, Child, Genetics (clinical), Comparative Genomic Hybridization, medicine.diagnostic_test, business.industry, Infant, medicine.disease, Magnetic Resonance Imaging, Hypotonia, Phenotype, Autism spectrum disorder, Child, Preschool, Developmental Milestone, Cohort, Muscle Hypotonia, Female, Nervous System Diseases, Presentation (obstetrics), medicine.symptom, Sleep, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c7e8430c8f912fd700f06cae3fcf61f
https://doi.org/10.1002/ajmg.a.61789

المؤلفون: R Ferrarese, M Brivio, T Congiu, P Falabella, A Grimaldi, M Mastore, G Perletti, F Pennacchio, L Sciacca, G Tettamanti, R Valvassori, M de Eguileor

المصدر: Invertebrate Survival Journal, Vol 2, Iss 1, Pp 60-68 (2005)

مصطلحات موضوعية: insects, parasitoid, immune defenses, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.isj.unimo.it/articoli/ISJ100.pdf; https://doaj.org/toc/1824-307X

URL الوصول: https://doaj.org/article/1d840ff7a4cd45bda9293ddc90689d68

المؤلفون: Francesca L. Sciacca, Valeria Tiranti, Angelo Iannielli, Vania Broccoli, Camille Peron, Andrea Legati, Andrea Cavaliere, Ambra Rizzo, Roberta Mauceri

المصدر: Stem Cell Research, Vol 50, Iss, Pp 102151-(2021)

مصطلحات موضوعية: 0301 basic medicine, Mitochondrial DNA, Mitochondrial disease, Skeletal muscle, Cell Biology, General Medicine, Biology, medicine.disease, Molecular biology, Heteroplasmy, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Pearson's syndrome, medicine.anatomical_structure, lcsh:Biology (General), Pearson marrow-pancreas syndrome, medicine, Human Induced Pluripotent Stem Cells, lcsh:QH301-705.5, 030217 neurology & neurosurgery, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9879116e536b2e9ac894ad56fae06c0
http://www.sciencedirect.com/science/article/pii/S1873506120304529

المؤلفون: Anu Suomalainen, Angelo Iannielli, Vania Broccoli, Flavia Palombo, Valeria Tiranti, Ivano Di Meo, Francesca L. Sciacca, Valerio Carelli, Camille Peron, Alice Segnali, Alessandro Prigione, Leonardo Caporali, Ambra Rizzo, Sonia Levi, Alessandra Maresca, Claudio Fiorini

المساهمون: Palombo, F., Peron, C., Caporali, L., Iannielli, A., Maresca, A., Di Meo, I., Fiorini, C., Segnali, A., Sciacca, F. L., Rizzo, A., Levi, S., Suomalainen, A., Prigione, A., Broccoli, V., Carelli, V., Tiranti, V., HUSLAB, STEMM - Stem Cells and Metabolism Research Program, Department of Neurosciences, University Management, Anu Wartiovaara / Principal Investigator, Research Programs Unit, Palombo F., Peron C., Caporali L., Iannielli A., Maresca A., Di Meo I., Fiorini C., Segnali A., Sciacca F.L., Rizzo A., Levi S., Suomalainen A., Prigione A., Broccoli V., Carelli V., Tiranti V.

المصدر: Stem Cell Reports

مصطلحات موضوعية: Male, HEREDITARY OPTIC NEUROPATHY, STRESS, mtDNA deep sequencing, Biochemistry, Cell therapy, 0302 clinical medicine, Neural Stem Cells, LONGEVITY, Child, Induced pluripotent stem cell, Cells, Cultured, Aged, 80 and over, 0303 health sciences, High-Throughput Nucleotide Sequencing, Cell Differentiation, Middle Aged, Cellular Reprogramming, human iPSC, Mitochondria, Nuclear DNA, Cell biology, MTDNA HETEROPLASMY, Female, human iPSCs, Reprogramming, PLURIPOTENT STEM-CELLS, Adult, EXPRESSION, Mitochondrial DNA, Mitochondrial disease, Induced Pluripotent Stem Cells, Biology, DNA, Mitochondrial, Article, Deep sequencing, Cell Line, Young Adult, 03 medical and health sciences, Genetics, medicine, Humans, 030304 developmental biology, MUTATIONS, Cell Biology, Fibroblasts, iPSCs quality control, medicine.disease, Cell culture, Mutation, 1182 Biochemistry, cell and molecular biology, 030217 neurology & neurosurgery, neuronal precursor cells, Developmental Biology, GENERATION

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab29c86f662bf451ccdfe0c07a614476

المؤلفون: Chiara Pantaleoni, Francesca L. Sciacca, Enrico Alfei, Stefano D'Arrigo, Daria Riva, Veronica Saletti, Matilde Taddei, Ambra Rizzo, Silvia Annunziata, Sara Bulgheroni, Silvia Esposito

المصدر: Journal of autism and developmental disorders.

مصطلحات موضوعية: Genetics, Autistic spectrum disorder, 05 social sciences, Cognition, medicine.disease, behavioral disciplines and activities, 03 medical and health sciences, 0302 clinical medicine, Neuroimaging, Autism spectrum disorder, mental disorders, Developmental and Educational Psychology, medicine, Autism, 0501 psychology and cognitive sciences, Copy-number variation, Psychology, 030217 neurology & neurosurgery, 050104 developmental & child psychology, Autistic symptoms, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a136fce67f194ccd7f43f199cb9aa2b
https://pubmed.ncbi.nlm.nih.gov/33394245

المؤلفون: Vania Broccoli, Angelo Iannielli, Ambra Rizzo, Alice Segnali, Roberta Mauceri, Francesca L. Sciacca, Camille Peron, Tommaso Cabassi, Valeria Tiranti, Valerio Carelli, Alessandra Maresca

المساهمون: Peron C., Mauceri R., Cabassi T., Segnali A., Maresca A., Iannielli A., Rizzo A., Sciacca F.L., Broccoli V., Carelli V., Tiranti V.

المصدر: Stem Cell Research, Vol 48, Iss, Pp 101939-(2020)

مصطلحات موضوعية: 0301 basic medicine, Mitochondrial DNA, congenital, hereditary, and neonatal diseases and abnormalities, genetic structures, Mutant, Induced Pluripotent Stem Cells, Optic Atrophy, Hereditary, Leber, Gene mutation, Biology, medicine.disease_cause, Retinal ganglion, DNA, Mitochondrial, Optic neuropathy, LHON, 03 medical and health sciences, 0302 clinical medicine, m.3460G>A, medicine, Humans, lcsh:QH301-705.5, Mutation, iPSC, Leber's hereditary optic neuropathy, nutritional and metabolic diseases, NADH Dehydrogenase, Cell Biology, General Medicine, medicine.disease, Molecular biology, eye diseases, Mitochondria, 030104 developmental biology, lcsh:Biology (General), 030217 neurology & neurosurgery, MT-ND1, Developmental Biology

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6393296aa856fb564e57f07974a2a909
https://pubmed.ncbi.nlm.nih.gov/32771908

المؤلفون: Francesca L. Sciacca, Claudia Ciaccio, Chiara Pantaleoni, Sara Bulgheroni, Stefano D'Arrigo

المصدر: Cerebellum (London, England). 19(5)

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Neurology, Screening test, Developmental Disabilities, Nervous System Malformations, 050105 experimental psychology, 03 medical and health sciences, Cerebellar Cortex, 0302 clinical medicine, Intellectual Disability, Intellectual disability, medicine, Humans, 0501 psychology and cognitive sciences, Child, Genetic heterogeneity, Microarray analysis techniques, business.industry, Diagnostic Tests, Routine, 05 social sciences, Diagnostic test, Infant, medicine.disease, Microarray Analysis, Child, Preschool, Referral center, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f7ae0f1d37a586d8dbe9faa339f1c0f
https://pubmed.ncbi.nlm.nih.gov/32472476

المؤلفون: Chiara Pantaleoni, Giovanna Zorzi, Vita Girgenti, Stefania Bigoni, Marica Eoli, Tiziana Granata, Margherita Estienne, Isabella Moroni, Francesca L. Sciacca, Veronica Saletti, Federica Zibordi, Stefano D'Arrigo, Elena Freri, Bruna Molteni, Nardo Nardocci, Enrico Alfei, Barbara Buldrini, Silvia Esposito, Donatella Milani, Anna Ardissone, Ambra Rizzo

المساهمون: Rizzo, A, Alfei, E, Zibordi, F, Saletti, V, Zorzi, G, Freri, E, Estienne, M, Girgenti, V, D'Arrigo, S, Esposito, S, Buldrini, B, Moroni, I, Milani, D, Granata, T, Ardissone, A, Eoli, M, Molteni, B, Bigoni, S, Pantaleoni, C, Nardocci, N, Sciacca, F

المصدر: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 177:557-562

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, RNA, Untranslated, Adolescent, DNA Copy Number Variations, Cell Adhesion Molecules, Neuronal, CNV, Nerve Tissue Proteins, Locus (genetics), Disease, Biology, Cohort Studies, NRXN1, 03 medical and health sciences, Cellular and Molecular Neuroscience, Humans, array CGH, Coding region, Genetic Predisposition to Disease, long noncoding RNA, Copy-number variation, Child, Neural Cell Adhesion Molecules, Gene, Genetics (clinical), Genetics, Comparative Genomic Hybridization, Mental Disorders, Calcium-Binding Proteins, Middle Aged, Non-coding RNA, Penetrance, Psychiatry and Mental health, Phenotype, 030104 developmental biology, Case-Control Studies, Child, Preschool, Chromosomes, Human, Pair 2, Female, RNA, Long Noncoding, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69f59de3296e1086f722c517efa7c7e3
https://doi.org/10.1002/ajmg.b.32649

المؤلفون: Paola Prina, Amerigo Boiardi, C. Marras, Francesca L. Sciacca, Antonio Silvani, Andrea Salmaggi, Laura Cajola, Bianca Pollo, Emilio Ciusani, Danilo Croci

مصطلحات موضوعية: Cancer Research, Pharmacology, Oncology, Molecular Medicine

Relation: url:https://www.openaccessrepository.it/communities/itmirror; https://www.openaccessrepository.it/record/128667

الاتاحة: https://www.openaccessrepository.it/record/128667
https://doi.org/10.4161/cbt.5.2.2357

المؤلفون: R Ferrarese, M Brivio, T Congiu, P Falabella, A Grimaldi, M Mastore, G Perletti, L Sciacca, G Tettamanti, R Valvassori, M De Eguileor

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.isj.unimo.it/articoli/ISJ100.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.533.2191; http://www.isj.unimo.it/articoli/ISJ100.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.533.2191
http://www.isj.unimo.it/articoli/ISJ100.pdf