المؤلفون: Laura Zampini, Francesca Novara, Paola Zanchi, Orsetta Zuffardi, Berardo Rinaldi

المساهمون: Zampini, L, Zanchi, P, Rinaldi, B, Novara, F, Zuffardi, O

مصطلحات موضوعية: Male, Autism Spectrum Disorder, Longitudinal data, Intellectual disability, Ring 14 syndrome, Language Development, Chromosome aberration, Developmental psychology, 03 medical and health sciences, 0302 clinical medicine, Chromosome (genetic algorithm), Humans, Medicine, Language Development Disorders, Ring Chromosomes, 0501 psychology and cognitive sciences, Longitudinal Studies, Child, Autistic trait, Chromosomes, Human, Pair 14, business.industry, Communication, 05 social sciences, Chromosome 14 aberration, Brain, Infant, Electroencephalography, medicine.disease, Magnetic Resonance Imaging, Language development, Autistic traits, Child, Preschool, Karyotyping, Pediatrics, Perinatology and Child Health, Longitudinal, Female, Chromosome Deletion, business, 030217 neurology & neurosurgery, 050104 developmental & child psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e787396312328fbd000aa0b73399ddf1Test
http://hdl.handle.net/10281/141905Test

المؤلفون: Sergio Amarri, Annarosa Soresina, Alessandro Vaisfeld, Giuseppe Gobbi, Giovanni Neri, Chiara Baldo, Tommaso Pippucci, Marco Crimi, Laura Zampini, Francesca Novara, Erto Melli, Pamela Magini, Berardo Rinaldi, Orsetta Zuffardi, Romana Rizzi

المساهمون: Rinaldi, B, Vaisfeld, A, Amarri, S, Baldo, C, Gobbi, G, Magini, P, Melli, E, Neri, G, Novara, F, Pippucci, T, Rizzi, R, Soresina, A, Zampini, L, Zuffardi, O, Crimi, M

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-11 (2017)

مصطلحات موضوعية: Myoclonus, Abnormality of skin pigmentation, Brain atrophy, Autism Spectrum Disorder, Ring chromosome, Chromosome Disorders, Autoimmunity, Review, Recommendations, 030105 genetics & heredity, Optic neuropathy, 0302 clinical medicine, Ring Chromosomes, Pharmacology (medical), Pallor, Feeding difficultie, Diaphragmatic weakness, Status epilepticus, Retinal degeneration, Abnormality of the immune system, Dehydration, Focal seizure, General Medicine, Dysphagia, Recurrent infection, Abnormality of the eye, Autism spectrum disorder, Cafe-au-lait spot, Diaphragmatic weakne, Focal seizures with impairment of consciousness or awarene, Underdeveloped supraorbital ridge, Feeding difficulties, Downslanted palpebral fissures, Arthriti, Large forehead, medicine.medical_specialty, Best practices, Epicanthus, Cataract, Autistic behavior, Recurrent upper respiratory tract infection, Ring14 syndrome, Cytogenetics, 03 medical and health sciences, Microphthalmia, Humans, Scoliosi, Arthritis, lcsh:R, Absent speech, Aggressive behavior, Full cheek, Glaucoma, Guideline, Pneumonia, Recommendation, medicine.disease, Strabismus, Short stature, Ventriculomegaly, Osteoporosis, Stereotypy, Focal seizures with impairment of consciousness or awareness, Abnormality of the face, 030217 neurology & neurosurgery, Recurrent pneumonia, 0301 basic medicine, Pediatrics, Autism, Global developmental delay, Intellectual disability, lcsh:Medicine, Best practice, Encephalopathy, Respiratory failure, Epilepsy, Blepharophimosi, Behavioral abnormality, Myopia, Full cheeks, Celiac disease, Flexion contracture, Facial asymmetry, Genetics (clinical), Hypertelorism, Status epilepticu, Muscular hypotonia, Seizure, Anorexia, Coloboma, Caregivers, Ring chromosome 14 syndrome, Microcephaly, Respiratory insufficiency, Fever, Milia, Respiratory tract infection, Underdeveloped supraorbital ridges, Pain, Blepharophimosis, Hearing impairment, Focal seizures, Seizures, Strabismu, Scoliosis, Recurrent infections, medicine, Epicanthu, Thin vermilion border, Chromosomes, Human, Pair 14, Abnormality of retinal pigmentation, Growth delay, Increased body weight, business.industry, Osteopenia, Malnutrition, Osteoporosi, Abnormality of the corpus callosum, Astigmatism, Caregiver, Horizontal eyebrow, Abnormality of vision, Hyperactivity, Recurrent upper respiratory tract infections, Aspiration, Downslanted palpebral fissure, Abnormality of the retina, business, Constipation, Myoclonu

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c5999d9695ce1d3d6680710e42cdfcaTest
http://hdl.handle.net/10281/149247Test

المؤلفون: Eva Trevisson, Maurizio Clementi, Leonardo Salviati, Corrado Angelini, Alberto Burlina, Orsetta Zuffardi, Marco Spinazzi, Plácido Navas, Giada Lunardi, Alberto Casarin, María Angeles Hernández, Giovanna Cenacchi, Annalisa Vetro, Ivan Limongelli, Mara Doimo, Maria Andrea Desbats, Lino Chiandetti

المساهمون: Fondazione Cassa di Risparmio di Padova e Rovigo, Fondazione Telethon, Ministero della Salute, Instituto de Salud Carlos III, Junta de Andalucía, Desbats, Ma, Vetro, A, Limongelli, I, Lunardi, G, Casarin, A, Doimo, M, Spinazzi, M, Angelini, C, Cenacchi, G, Burlina, A, Rodriguez Hernandez, Ma, Chiandetti, L, Clementi, M, Trevisson, E, Navas, P, Zuffardi, O, Salviati, L, Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA)

المصدر: Eur J Hum Genet
Eur J Hum Genet, 2015, 23, pp.1254-1258. ⟨10.1038/ejhg.2014.277⟩
European Journal of Human Genetics
Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: Ubiquinone, Gene Expression, Gastroenterology, Coenzyme Q10, coenzime Q10 deficiency, COQ2, chemistry.chemical_compound, Consanguinity, 0302 clinical medicine, Fatal Outcome, Genetics (clinical), Exome sequencing, Genetics, 0303 health sciences, Proteinuria, Muscle Weakness, Lactic, Skeletal, 3. Good health, Mitochondria, Coenzyme Q10 deficiency, Muscle, Acidosis, Lactic, Female, medicine.symptom, Severe lactic acidosis, Acidosis, Sequence Analysis, medicine.medical_specialty, Ataxia, Encephalopathy, Short Report, Mitochondrial diseases, Biology, 03 medical and health sciences, Internal medicine, Intellectual Disability, medicine, Point Mutation, Hepatic Insufficiency, Humans, Renal Aminoacidurias, Muscle, Skeletal, 030304 developmental biology, Alkyl and Aryl Transferases, Genetic heterogeneity, ataxia, Infant, Newborn, Infant, Sequence Analysis, DNA, DNA, medicine.disease, Newborn, Mitochondria, Muscle, chemistry, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a5f7624cdc3792b48fce6103a735d7bTest
http://hdl.handle.net/10261/129608Test

المؤلفون: Orsetta Zuffardi, Marco Seri, Anita Wischmeijer, I. Cecconi, Emilio Franzoni, Pamela Magini, Giovanni Romeo, Roberto Giorda, Laura Mazzanti, Maria Gnoli, Roberto Ciccone

المساهمون: Wischmeijer A, Magini P, Giorda R, Gnoli M, Ciccone R, Cecconi L, Franzoni E, Mazzanti L, Romeo G, Zuffardi O, Seri M

المصدر: Molecular Syndromology; Vol 1

مصطلحات موضوعية: Genetics, 0303 health sciences, Olfactory receptor, Breakpoint, Biology, Phenotype, SHANK2, 11q13.2q13.4 microdeletion, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Chromosomal region, medicine, Original Article, Haploinsufficiency, Gene, 030217 neurology & neurosurgery, Genetics (clinical), 030304 developmental biology, Segmental duplication

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4253172acf560bdf253be901b1729a83Test
http://hdl.handle.net/11585/154292Test

المؤلفون: Sebastiano A. Musumeci, Freddie H. Sharkey, Roberto Giorda, Orsetta Zuffardi, Isabella Fiocchi, Bruno Leheup, Luigina Spaccini, M. Clara Bonaglia, Graeme C.M. Black, Massimo Mastrangelo, Elena Fontana, Jill Clayton-Smith, Susan Marelli, Francesca Novara, Daniela Di Benedetto, Marco Seri, Sally Ann Lynch, Emanuela Avola, Claudio Zucca, Paolo Tinuper, Girolamo Aurelio Vitello, Rita Grasso, Marco Fichera, Philippe Jonveaux, Pinella Failla, Silvana Beri, Claudia Torniero, Lucia Castiglia, Bernardo Dalla Bernardina, Pamela Magini, Jill E. Urquhart, Francesca Bisulli, Corrado Romano, Santina Reitano

المساهمون: Giorda R., Bonaglia M.C., Beri S., Fichera M., Novara F., Magini P., Urquhart J., Sharkey F.H., Zucca C., Grasso R., Marelli S., Castiglia L., Di Benedetto D., Musumeci S.A., Vitello G.A., Failla P., Reitano S., Avola E., Bisulli F., Tinuper P., Mastrangelo M., Fiocchi I., Spaccini L., Torniero C., Fontana E., Lynch S.A., Clayton-Smith J., Black G., Jonveaux P., Leheup B., Seri M., Romano C., dalla Bernardina B., Zuffardi O.

المصدر: Europe PubMed Central
The American Journal of Human Genetics; Vol 85

مصطلحات موضوعية: Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Audiology, Electroencephalography, Biology, mental retardation, 03 medical and health sciences, 0302 clinical medicine, Report, Gene Duplication, Intellectual Disability, dup(X)(p11.22-p11.23), EEG anomalies, Gene duplication, Genetics, medicine, Humans, Genetics(clinical), Language Development Disorders, Genetics (clinical), X chromosome, 030304 developmental biology, Segmental duplication, Chromosomes, Human, X, 0303 health sciences, medicine.diagnostic_test, 030305 genetics & heredity, medicine.disease, Pedigree, Developmental disorder, Speech delay, dup, Female, medicine.symptom, Erratum, 030217 neurology & neurosurgery, Comparative genomic hybridization

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::432f972a1c690af16aaf3cfd015bac63Test
https://europepmc.org/articles/PMC2771658Test/