يعرض 1 - 10 نتائج من 57 نتيجة بحث عن '"Francesca L. Sciacca"', وقت الاستعلام: 0.92s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A

    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

    وصف الملف: electronic resource

    العلاقة: http://www.sciencedirect.com/science/article/pii/S1873506124001041Test; https://doaj.org/toc/1873-5061Test

    الوصول الحر: https://doaj.org/article/ef6d717e79284050a843ebbd78811d1eTest

    View record in DOAJ النص الكامل

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  2. 2
    دورية أكاديمية
    Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus

    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

    العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2023.1199095/fullTest; https://doaj.org/toc/1664-2295Test

    الوصول الحر: https://doaj.org/article/24af25f031fb42cda4b7583c25f6b092Test

    View record in DOAJ النص الكامل

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  3. 3
    دورية أكاديمية
    Generation of two human iPSC lines, FINCBi002-A and FINCBi003-A, carrying heteroplasmic macrodeletion of mitochondrial DNA causing Pearson’s syndrome

    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

    العلاقة: http://www.sciencedirect.com/science/article/pii/S1873506120304529Test; https://doaj.org/toc/1873-5061Test

    الوصول الحر: https://doaj.org/article/1ecd85330db0486787a1ffd81c908580Test

    View record in DOAJ النص الكامل

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  4. 4
    دورية أكاديمية
    Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber’s Hereditary optic Neuropathy (LHON)

    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

    العلاقة: http://www.sciencedirect.com/science/article/pii/S1873506120302403Test; https://doaj.org/toc/1873-5061Test

    الوصول الحر: https://doaj.org/article/44ae5fd09fa54f248c15c90512760a54Test

    View record in DOAJ النص الكامل

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  5. 5
    دورية أكاديمية
    Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving BCL2L10, GNB5, and MYO5C Genes, Resembling Infantile Developmental Disorder With Cardiac Arrhythmias (IDDCA)

    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

    العلاقة: https://www.frontiersin.org/article/10.3389/fgene.2020.00399/fullTest; https://doaj.org/toc/1664-8021Test

    الوصول الحر: https://doaj.org/article/0d5642eb0c884dc1b2430e749c28bd2aTest

    View record in DOAJ النص الكامل

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  6. 6
    Rhythmic cortical myoclonus in patients with 6Q22.1 deletion

    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

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b350e6dfe625a88f10bfd111606f53b5Test
    https://doi.org/10.1016/j.ejpn.2023.03.001Test


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  7. 7
    دورية أكاديمية
    Generation of two human iPSC lines, FINCBi002-A and FINCBi003-A, carrying heteroplasmic macrodeletion of mitochondrial DNA causing Pearson's syndrome

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

    مصطلحات موضوعية: Cell Biology, Developmental Biology, General Medicine

    العلاقة: url:https://www.openaccessrepository.it/communities/itmirrorTest; https://www.openaccessrepository.it/record/88395Test

    الإتاحة: https://doi.org/10.1016/j.scr.2020.102151Test
    https://www.openaccessrepository.it/record/88395Test

    View record in BASE

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  8. 8
    Neurological phenotype of Potocki–Lupski syndrome

    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

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c7e8430c8f912fd700f06cae3fcf61fTest
    https://doi.org/10.1002/ajmg.a.61789Test


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  9. 9
    The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders

    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

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69f59de3296e1086f722c517efa7c7e3Test
    https://doi.org/10.1002/ajmg.b.32649Test


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  10. 10
    Generation of two human iPSC lines, FINCBi002-A and FINCBi003-A, carrying heteroplasmic macrodeletion of mitochondrial DNA causing Pearson’s syndrome

    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

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9879116e536b2e9ac894ad56fae06c0Test
    http://www.sciencedirect.com/science/article/pii/S1873506120304529Test


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