المؤلفون: Enrico Grosso, A. Maffe, Malte Spielmann, L Sorasio, G. Zacchetti, E. Di Gregorio, Elisa Savin, Roberto Keller, A. Guala, Irene Bagnasco, M. Cirillo Silengo, Marina Gandione, Cecilia Mancini, S De Rubeis, Marta Ferrero, Elisa Giorgio, Giorgia Mandrile, Alessandro Calcia, F. Talarico, Giorgia Gai, Fabio Sirchia, Paolo Provero, V. G. Naretto, Simona Cavalieri, Alessandro Brussino, Daniela Giachino, S. Ungari, Evelise Riberi, Gabriella Restagno, Alfredo Brusco, Patrizia Pappi, Barbara Pasini, Elga Fabia Belligni, Andrea Zonta, M. De Marchi, Mara Giordano, Joseph D. Buxbaum, Diana Carli, Elisa Biamino, Alessandra Pelle, Giovanni Battista Ferrero, Ugo Ala, C. Arduino

المصدر: Clinical Genetics. 92:415-422

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Candidate gene, Adolescent, DNA Copy Number Variations, Developmental Disabilities, CNV, autism spectrum disorder, Biology, Chromosomal Position Effects, Young Adult, 03 medical and health sciences, Intellectual disability, Genetics, medicine, Humans, Copy-number variation, Child, genomic disorders, Gene, Genetic Association Studies, Genetics (clinical), Sequence Deletion, Chromosome Aberrations, Comparative Genomic Hybridization, array-CGH, developmental delay, intellectual disability, Infant, Genomics, medicine.disease, Phenotype, Pedigree, DNA-Binding Proteins, 030104 developmental biology, Autism spectrum disorder, Child, Preschool, Cohort, Female, Rare disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39a801c78f604f6776fe5565bea502f4Test
https://doi.org/10.1111/cge.13009Test

المؤلفون: Cecilia Mancini, Elena Gaidolfi, Cristina Molinatto, Elisa Biamino, Marco Tartaglia, Andrea Ciolfi, Eleonora Di Gregorio, Elisa Giorgio, Simona Cavalieri, Viviana Caputo, Alessandro Bruselles, Alfredo Brusco, Margherita Silengo, Elga Fabia Belligni, Alessandro Calcia, Giovanni Battista Ferrero

المصدر: American Journal of Medical Genetics Part A. 170:1772-1779

مصطلحات موضوعية: 0301 basic medicine, Proband, Microcephaly, Ataxia, Cerebellar Ataxia, Developmental Disabilities, de novo CNV, intellectual disability, TRAPPC9, VLDRL, whole exome sequencing, Genetics, Genetics (clinical), Biology, Nervous System Malformations, Bioinformatics, 03 medical and health sciences, Cerebellum, medicine, Humans, Exome, Genetic Predisposition to Disease, Child, Cerebellar hypoplasia, Exome sequencing, Comparative Genomic Hybridization, Cerebellar ataxia, medicine.disease, Hypotonia, Pedigree, Phenotype, 030104 developmental biology, Receptors, LDL, Child, Preschool, Mutation, Intercellular Signaling Peptides and Proteins, Female, medicine.symptom, Carrier Proteins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3e67740fa799a6635f886fec111285dTest
https://doi.org/10.1002/ajmg.a.37649Test

المؤلفون: F. Talarico, Simona Cavalieri, Evelise Riberi, Silvia De Rubeis, Roberto Keller, Cecilia Mancini, Giovanni Battista Ferrero, Alessandro Calcia, Marina Gandione, Elisa Giorgio, Alfredo Brusco, Margherita Silengo, Elga Fabia Belligni, Antonio Maria Fea, Eleonora Di Gregorio, Elisa Biamino, Patrizia Pappi

المصدر: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 171:290-299

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, obesity, medicine.medical_specialty, Polymerase Chain Reaction, Contiguous gene syndrome, 03 medical and health sciences, Cellular and Molecular Neuroscience, Intellectual disability, contiguous gene syndrome, medicine, Humans, Copy-number variation, Autistic Disorder, Child, 10. No inequality, Psychiatry, Genetics (clinical), Aged, Genetics, business.industry, autistic spectrum disorder, Infant, Newborn, Infant, Middle Aged, intellectual disability, schizophrenia, medicine.disease, Pedigree, 3. Good health, Psychiatry and Mental health, Phenotype, 030104 developmental biology, Psychotic Disorders, Schizophrenia, Autism spectrum disorder, Child, Preschool, Autism, Female, Chromosomes, Human, Pair 3, Chromosome Deletion, business, Haploinsufficiency, Anxiety disorder

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e368517e21e54bcc436ca0c1d44e646cTest
https://doi.org/10.1002/ajmg.b.32406Test

المؤلفون: Patrizia Malaspina, Concetta Capo, Sara Leo, Mattia Falconi, Luisa Rossi, Elisa Biamino, Bianca Maria Ciminelli, Federico Iacovelli, Roberta Vittorini, Serena Vesco, Marco Spada, Maria Paola Puccinelli, Francesco Porta, Giovanna Menduti

المصدر: Molecular genetics and metabolism. 124(3)

مصطلحات موضوعية: 0301 basic medicine, Succinic semialdehyde dehydrogenase deficiency, Male, Heterozygote, Protein Conformation, Endocrinology, Diabetes and Metabolism, Developmental Disabilities, Mutant, Mutation, Missense, SSADHD (succinic semialdehyde dehydrogenase deficiency), Gene mutation, medicine.disease_cause, Biochemistry, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Enzyme Stability, Genetics, medicine, Missense mutation, Humans, ALDH5A1 gene, GABA (γ-aminobutyric acid), GHB (γ-hydroxybutyric acid), SSADH, Molecular Biology, Amino Acid Metabolism, Inborn Errors, Mutation, biology, Settore BIO/11, Chemistry, Settore BIO/12, Wild type, medicine.disease, Molecular biology, Enzyme assay, Pedigree, Settore BIO/18 - Genetica, 030104 developmental biology, Child, Preschool, biology.protein, Female, Succinate-Semialdehyde Dehydrogenase, 030217 neurology & neurosurgery, Homotetramer

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cfb9a5ac06b6419d3952f485adbc9d9Test
https://pubmed.ncbi.nlm.nih.gov/29895405Test

المؤلفون: Marco Spada, David Kasper, Elisa Biamino, Veronica Pagliardini, Francesco Porta, Silvana Giachero

المصدر: Italian Journal of Pediatrics

مصطلحات موضوعية: 0301 basic medicine, Genetic Markers, Male, medicine.medical_specialty, Spectrometry, Mass, Electrospray Ionization, Globotriaosylceramide, Asymptomatic, Gastroenterology, Pediatrics, Lysosomal storage disorders, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, Genotype, medicine, Humans, Clinical phenotype, Child, Newborn screening, Fabry disease, Sphingolipids, Alpha-galactosidase, biology, business.industry, Research, Infant, Newborn, Perinatology and Child Health, medicine.disease, Globotriaosylsphingosine, Pediatrics, Perinatology and Child Health, Sphingolipid, Pedigree, 030104 developmental biology, Endocrinology, Phenotype, chemistry, alpha-Galactosidase, biology.protein, Disease Progression, medicine.symptom, Glycolipids, business, 030217 neurology & neurosurgery, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e591523233a3c86acbe8009047b31b5Test
http://europepmc.org/articles/PMC5209809Test

المؤلفون: I. Borelli, Giovanni Battista Ferrero, Alessandro Bruselles, Andrea Ciolfi, Cecilia Mancini, Marta Ferrero, Eleonora Di Gregorio, Alfredo Brusco, Elisa Giorgio, Simona Cavalieri, Elga Fabia Belligni, Antonio Amoroso, Marco Tartaglia, Elisa Biamino, Alessandro Brussino, Simone Pizzi, Evelise Riberi, Viviana Caputo, Alessandro Calcia, Elisa Pozzi

المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 21(3)

مصطلحات موضوعية: 0301 basic medicine, Proband, Male, 030105 genetics & heredity, Gene mutation, Bioinformatics, Pediatrics, Marfan Syndrome, Craniofacial Abnormalities, RPS6KA3, Genes, X-Linked, X Chromosome Inactivation, Exome, Child, ATRX, DMD, MECP2, Skewed X-inactivation, WES, Whole exome sequencing, Pediatrics, Perinatology and Child Health, Neurology (clinical), Exome sequencing, Genetics, Marfanoid, General Medicine, Perinatology and Child Health, Pedigree, Phenotype, Adolescent, Biology, 03 medical and health sciences, alpha-Thalassemia, Intellectual Disability, medicine, Coffin-Lowry Syndrome, Humans, Genetic Predisposition to Disease, Retrospective Studies, Sequence Analysis, DNA, medicine.disease, 030104 developmental biology, Mutation, Mental Retardation, X-Linked

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df9870709e3faa90c2038fb495e8f7e2Test
https://pubmed.ncbi.nlm.nih.gov/28027854Test