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1. Full Text An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray
by Bacchelli, Elena and Cameli, Cinzia and Viggiano, Marta and Igliozzi, Roberta and Mancini, Alice and Tancredi, Raffaella and Battaglia, Agatino and Maestrini, Elena
Scientific reports, ISSN 2045-2322, 02/2020, Volume 10, Issue 1, pp. 3198 - 3198
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Gene Duplication | Autism Spectrum Disorder - genetics | Genetic Predisposition to Disease | Genetic Association Studies | Oligonucleotide Array Sequence Analysis | Humans | Parents | Family Health | Genotype | Male | Risk | DNA Copy Number Variations | Linkage Disequilibrium | Exome | Pedigree | Gene Deletion | Female | Heterozygote | Italy - epidemiology | Polymorphism, Single Nucleotide | Autism | Genotyping | Mental disorders | Neurodevelopmental disorders | Etiology | Index Medicus
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2. Full Text Maternally inherited genetic variants of CADPS 2 are present in Autism Spectrum Disorders and Intellectual Disability patients
by Bonora, Elena and Graziano, Claudio and Minopoli, Fiorella and Bacchelli, Elena and Magini, Pamela and Diquigiovanni, Chiara and Lomartire, Silvia and Bianco, Francesca and Vargiolu, Manuela and Parchi, Piero and Marasco, Elena and Mantovani, Vilma and Rampoldi, Luca and Trudu, Matteo and Parmeggiani, Antonia and Battaglia, Agatino and Mazzone, Luigi and Tortora, Giada and Maestrini, Elena and Seri, Marco and Romeo, Giovanni and IMGSAC
EMBO molecular medicine, ISSN 1757-4676, 12/2014, Volume 6, Issue 12, pp. 1639 - 1639
Autism | Genetic variance
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3. Full Text Maternally inherited genetic variants of CADPS 2 are present in Autism Spectrum Disorders and Intellectual Disability patients
by Bonora, Elena and Graziano, Claudio and Minopoli, Fiorella and Bacchelli, Elena and Magini, Pamela and Diquigiovanni, Chiara and Lomartire, Silvia and Bianco, Francesca and Vargiolu, Manuela and Parchi, Piero and Marasco, Elena and Mantovani, Vilma and Rampoldi, Luca and Trudu, Matteo and Parmeggiani, Antonia and Battaglia, Agatino and Mazzone, Luigi and Tortora, Giada and Maestrini, Elena and Seri, Marco and Romeo, Giovanni and IMGSAC
EMBO molecular medicine, ISSN 1757-4676, 06/2014, Volume 6, Issue 6, pp. 795 - 809
Brain | Dopamine | Amygdala | Mental disorders | Intellectual disabilities | Epilepsy | Gene expression | Consortia | Proteins | Autism | Genetic variance | Developmental stages | Mutation | Dopamine D2 receptors | Chromosomes | Siblings
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4. Full Text Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility
by Bacchelli, Elena and Battaglia, Agatino and Cameli, Cinzia and Lomartire, Silvia and Tancredi, Raffaella and Thomson, Susanne and Sutcliffe, James S and Maestrini, Elena
American journal of medical genetics. Part A, ISSN 1552-4825, 04/2015, Volume 167, Issue 4, pp. 715 - 723
copy number variants | sequence variants | 15q13.3 | neurodevelopmental disorders | Neurodevelopmental disorders | Sequence variants | Copy number variants | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Autism Spectrum Disorder - genetics | Genetic Predisposition to Disease | Genetic Association Studies | DNA Mutational Analysis | Humans | Adolescent | alpha7 Nicotinic Acetylcholine Receptor - genetics | Female | Male | Polymorphism, Single Nucleotide | Case-Control Studies | Autism | Disease susceptibility | Seizures (Medicine) | Analysis | Index Medicus
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5. Full Text Genetic variation in CHRNA7 and CHRFAM7A is associated with nicotine dependence and response to varenicline treatment
by Cameli, Cinzia and Bacchelli, Elena and De Paola, Maria and Giucastro, Giuliano and Cifiello, Stefano and Collo, Ginetta and Cainazzo, Maria Michela and Pini, Luigi Alberto and Maestrini, Elena and Zoli, Michele
European journal of human genetics : EJHG, ISSN 1018-4813, 12/2018, Volume 26, Issue 12, pp. 1824 - 1831
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Genetic variance | Drug addiction | Hypotheses | Tobacco | Copy number | Acetylcholine receptors (nicotinic) | Genetic diversity | Drug dependence | Cigarettes | Variation | Smoking | Nicotine | Index Medicus
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6. Full Text A genome-wide analysis in cluster headache points to neprilysin and PACAP receptor gene variants
by Bacchelli, Elena and Cainazzo, Maria Michela and Cameli, Cinzia and Guerzoni, Simona and Martinelli, Angela and Zoli, Michele and Maestrini, Elena and Pini, Luigi Alberto
Journal of headache and pain, ISSN 1129-2369, 12/2016, Volume 17, Issue 1, pp. 1 - 8
Neurology | Association studies in genetics | Pain Medicine | Cluster headache | Genome-Wide Association Study | Pituitary adenylate cyclase-activating polypeptide receptor ( ADCYAP1R1 ) | Neprylisin | Missense mutation | Medicine & Public Health | Internal Medicine | Membrane metalloendopeptidase ( MME ) | Pituitary adenylate cyclase-activating polypeptide receptor (ADCYAP1R1) | Membrane metalloendopeptidase (MME) | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Genetic Predisposition to Disease - genetics | Humans | Middle Aged | Cluster Headache - genetics | Male | Genetic Testing - methods | Receptors, Pituitary Adenylate Cyclase-Activating Polypeptide - genetics | Young Adult | Cluster Headache - diagnosis | Adolescent | Aged, 80 and over | Polymorphism, Single Nucleotide - genetics | Adult | Female | Neprilysin - genetics | Aged | Genetic Variation - genetics | Genome-Wide Association Study - methods | Genome-wide association studies | Research | Metalloenzymes | Analysis | Headaches | Genetics | Genomes | Polypeptides | Mutation | Index Medicus
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7. Full Text Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene
by Bacchelli, Elena and Loi, Eleonora and Cameli, Cinzia and Moi, Loredana and Vega Benedetti, Ana Florencia and Blois, Sylvain and Fadda, Antonio and Bonora, Elena and Mattu, Sandra and Fadda, Roberta and Chessa, Rita and Maestrini, Elena and Doneddu, Giuseppe and Zavattari, Patrizia
Journal of clinical medicine, ISSN 2077-0383, 02/2019, Volume 8, Issue 2, p. 212
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | PSD proteins | VDAC3 | ASD | CAPG | postsynaptic density proteins | autism spectrum disorder
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8. Full Text Linkage and candidate gene studies of autism spectrum disorders in European populations
by Holt, Richard and Barnby, Gabrielle and Maestrini, Elena and Bacchelli, Elena and Brocklebank, Denise and Sousa, Ines and Mulder, Erik J and Kantojarvi, Katri and Jarvela, Irma and Klauck, Sabine M and Poustka, Fritz and Bailey, Anthony J and Monaco, Anthony P and EU Autism MOLGEN Consortium and the EU Autism MOLGEN Consortium
European journal of human genetics : EJHG, ISSN 1018-4813, 09/2010, Volume 18, Issue 9, pp. 1013 - 1019
SEROTONIN TRANSPORTER | autistic disorder | INFANTILE-AUTISM | association | GRIK2 POLYMORPHISMS | linkage | IDENTIFICATION | FAMILY-BASED ASSOCIATION | UMCG Approved | PERVASIVE DEVELOPMENTAL DISORDERS | GENOMEWIDE SCREEN | GLUTAMATE-RECEPTOR-6 GENE | candidate gene | SUSCEPTIBILITY LOCUS | COMPLEX TRAITS | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Human | General aspects. Genetic counseling | Psychology. Psychoanalysis. Psychiatry | Infantile autism | Developmental disorders | Biological and medical sciences | Molecular and cellular biology | Medical sciences | Fundamental and applied biological sciences. Psychology | Classical genetics, quantitative genetics, hybrids | Psychopathology. Psychiatry | Medical genetics | Genetics of eukaryotes. Biological and molecular evolution | Child clinical studies | Autistic Disorder - genetics | Genetic Predisposition to Disease | Netherlands | Europe | Humans | Finland | Polymorphism, Single Nucleotide | Genetic Linkage | Association analysis | Autism | genomics | Single-nucleotide polymorphism | chromosome 2 | Index Medicus
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9. Full Text The role of rare compound heterozygous events in autism spectrum disorder
by Lin, Bochao Danae and Colas, Fabrice and Nijman, Isaac J and Medic, Jelena and Brands, William and Parr, Jeremy R and van Eijk, Kristel R and Klauck, Sabine M and Chiocchetti, Andreas G and Freitag, Christine M and Maestrini, Elena and Bacchelli, Elena and Coon, Hilary and Vicente, Astrid and Oliveira, Guiomar and Pagnamenta, Alistair T and Gallagher, Louise and Ennis, Sean and Anney, Richard and Bourgeron, Thomas and Luykx, Jurjen J and Vorstman, Jacob
Translational psychiatry, ISSN 2158-3188, 06/2020, Volume 10, Issue 1, pp. 204 - 204
Life Sciences & Biomedicine | Psychiatry | Science & Technology | Autism | Index Medicus
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10. Full Text Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients
by Bonora, Elena and Graziano, Claudio and Minopoli, Fiorella and Bacchelli, Elena and Magini, Pamela and Diquigiovanni, Chiara and Lomartire, Silvia and Bianco, Francesca and Vargiolu, Manuela and Parchi, Piero and Marasco, Elena and Mantovani, Vilma and Rampoldi, Luca and Trudu, Matteo and Parmeggiani, Antonia and Battaglia, Agatino and Mazzone, Luigi and Tortora, Giada and Maestrini, Elena and Seri, Marco and Romeo, Giovanni and IMGSAC
EMBO molecular medicine, ISSN 1757-4676, 06/2014, Volume 6, Issue 6, pp. 795 - 809
mutation screening | CADPS2 | monoallelic expression | autism spectrum disorders | intellectual disability | Autism spectrum disorders | Intellectual disability | Mutation screening | Monoallelic expression | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Sequence Deletion | Child Development Disorders, Pervasive - metabolism | Vesicular Transport Proteins - metabolism | Humans | Child, Preschool | Infant | Male | Receptors, Dopamine D2 - metabolism | Intellectual Disability - genetics | Intellectual Disability - metabolism | Protein Interaction Maps | Genetic Variation | Young Adult | DNA Methylation | Gene Expression Regulation, Developmental | Adult | Female | Calcium-Binding Proteins - metabolism | Mice, Inbred C57BL | Vesicular Transport Proteins - genetics | Nerve Tissue Proteins - genetics | Animals | Child Development Disorders, Pervasive - genetics | Pedigree | Alleles | CpG Islands | Aged | Mice | Mutation | Calcium-Binding Proteins - genetics | Autism | Genetic aspects | Gene expression | Epilepsy | Cardiac patients | Index Medicus
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11. Full Text Brain Magnetic Resonance Findings in 117 Children with Autism Spectrum Disorder under 5 Years Old
by Rochat, Magali Jane and Distefano, Giacomo and Maffei, Monica and Toni, Francesco and Posar, Annio and Scaduto, Maria Cristina and Resca, Federica and Cameli, Cinzia and Bacchelli, Elena and Maestrini, Elena and Visconti, Paola
Brain sciences, ISSN 2076-3425, 10/2020, Volume 10, Issue 10, p. 1
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Usage | Diagnosis | Magnetic resonance imaging | Pervasive developmental disorders | neurobiology | magnetic resonance imaging | incidental findings | autism spectrum disorder
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