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المؤلفون: Roberto Giorda, Maria Clara Bonaglia, Philippos C. Patsalis, Debora Vergani, Diane N Abuelo, María Ángeles Mori, Marilena Carmela Di Giacomo, Julián Nevado, Fabrizia Franchi, Vanna Pecile, Mana M. Mehrjouy, Giancarlo Discepoli, Carolina Sismani, Andressa Pereira Gonçalves, Sabrina Giglio, Silvana Beri, Ivana Ricca, Francesca Novara, Micheala A. Aldred, Paolo Reho, Edoardo Errichiello, Aldesia Provenzano, Cíntia Barros Santos-Rebouças, Sara Bertuzzo, Nehir Edibe Kurtas, Orsetta Zuffardi, Niels Tommerup
المصدر: Bonaglia, M C, Kurtas, N E, Errichiello, E, Bertuzzo, S, Beri, S, Mehrjouy, M M, Provenzano, A, Vergani, D, Pecile, V, Novara, F, Reho, P, Di Giacomo, M C, Discepoli, G, Giorda, R, Aldred, M A, Santos-Rebouças, C B, Goncalves, A P, Abuelo, D N, Giglio, S, Ricca, I, Franchi, F, Patsalis, P, Sismani, C, Morí, M A, Nevado, J, Tommerup, N & Zuffardi, O 2018, ' De novo unbalanced translocations have a complex history/aetiology ', Human Genetics, vol. 137, no. 10, pp. 817-829 . https://doi.org/10.1007/s00439-018-1941-9Test
Human Geneticsمصطلحات موضوعية: Male, 0301 basic medicine, Trisomy rescue, DNA End-Joining Repair, Telomere capture, Chromosomal translocation, Biology, Translocation, Genetic, 03 medical and health sciences, Dicentric chromosome, Meiosis, Parental origin, Gene duplication, Genetics, Chromothripsis, Mosaicism, Female, Humans, Recombinational DNA Repair, Genetics (clinical), Haplotype, Chromosome, Telomere, 030104 developmental biology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcd55101cee263e3348aa601fc46068aTest
https://doi.org/10.1007/s00439-018-1941-9Test -
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المؤلفون: Roberto Giorda, Vittoria Trezzi, Cecilia Marino, Diego Forni, Sara Mascheretti, Massimo Molteni, Marco Villa
المصدر: Journal of Human Genetics. 62:949-955
مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Nerve Tissue Proteins, Biology, Dyslexia, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Polymorphism (computer science), DCDC2, Genetic variation, Genetics, medicine, Humans, Genetic Predisposition to Disease, Regulatory Elements, Transcriptional, Allele, Child, Gene, Genetic Association Studies, Genetics (clinical), Haplotype, medicine.disease, Phenotype, Introns, 030104 developmental biology, Haplotypes, Italy, Female, Microtubule-Associated Proteins, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b31310626c6ae74bb57cc4125ae238dTest
https://doi.org/10.1038/jhg.2017.80Test -
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المصدر: Human Genetics. 134:749-760
مصطلحات موضوعية: Male, Candidate gene, Nerve Tissue Proteins, Biology, Receptors, N-Methyl-D-Aspartate, Dyslexia, DCDC2, Missing heritability problem, Genetics, medicine, Humans, Family, Allele, Genetics (clinical), Phosphoric Diester Hydrolases, Genetic Diseases, Inborn, Nuclear Proteins, Epistasis, Genetic, Heritability, medicine.disease, DNA-Binding Proteins, Cytoskeletal Proteins, Phenotype, Multiple comparisons problem, Trait, Female, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc76beb9d3dbf2c4afdde5832927907fTest
https://doi.org/10.1007/s00439-015-1555-4Test -
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المؤلفون: Marco Battaglia, Francesca Cattaneo, Cecilia Marino, Roberto Giorda, Chantal Mérette, Claudio Lazazzera, Maria Nobile, Claudia Émond, Michel Maziade, Valentina Riva, Sara Mascheretti
المصدر: European Child & Adolescent Psychiatry. 24:827-836
مصطلحات موضوعية: Male, medicine.medical_specialty, Breastfeeding, Polymorphism, Single Nucleotide, Receptors, N-Methyl-D-Aspartate, Vulnerable Populations, Developmental psychology, Developmental and Educational Psychology, Child and adolescent psychiatry, medicine, Humans, Child, Child Behavior Checklist, Socioeconomic status, Pregnancy, Wechsler Adult Intelligence Scale, Cognition, General Medicine, medicine.disease, Disadvantaged, Psychiatry and Mental health, Italy, Social Class, Attention Deficit Disorder with Hyperactivity, Pediatrics, Perinatology and Child Health, Female, Gene-Environment Interaction, Psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b627e1904077f641135bf2645d5270eTest
https://doi.org/10.1007/s00787-014-0627-7Test -
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المصدر: Molecular Cytogenetics
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Array-CGH, Long term follow up, Case Report, Disease, Biology, Bioinformatics, Biochemistry, Genetics, medicine, Genetics(clinical), Molecular Biology, Genetics (clinical), Biochemistry, medical, Respiratory distress, Point mutation, Biochemistry (medical), Cytogenetics, Microdeletion syndrome, Human genetics, PURA gene, 5q31.3 microdeletion syndrome, Neonatal hypotonia, Molecular Medicine, Neurodevelopmental phenotype, 5q31.2q31.3 deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2de1a6b3536a939f0015a5c325860d52Test
https://doi.org/10.1186/s13039-015-0193-9Test -
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المؤلفون: Luigi Memo, Claudio Zucca, Ruthild G. Weber, Orsetta Zuffardi, Maria Clara Bonaglia, Roberto Giorda, Elisabeth Mangold, Susan Marelli, Silvana Beri, Renato Borgatti, Simona Commodaro, Grazia Minardo, Massimo Molteni, Francesca Novara, Daniele Brambilla
المصدر: European Journal of Human Genetics. 18:1302-1309
مصطلحات موضوعية: Adult, Male, Adolescent, Hearing loss, Language delay, Molecular Sequence Data, Article, Pregnancy, Genotype, Genetics, Humans, Medicine, Cloning, Molecular, Child, Genetic Association Studies, Genetics (clinical), Psychomotor learning, Base Sequence, business.industry, Infant, Newborn, Infant, Chromosome Breakage, Sequence Analysis, DNA, medicine.disease, Phenotype, Developmental disorder, Child, Preschool, Female, Chromosome Deletion, medicine.symptom, business, Haploinsufficiency, Chromosomes, Human, Pair 19, Brachycephaly
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41c148df45632a912e51c695786bf99eTest
https://doi.org/10.1038/ejhg.2010.115Test -
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المؤلفون: Marilidia Piglionica, Roberto Giorda, Francesco Susca, Alessandro Stella, Rosanna Bagnulo, Erika Della Mina, Orsetta Zuffardi, Silvana Beri, Nicoletta Resta, Ginevra Guanti, Roberto Ciccone
المصدر: Human Genetics. 128:373-382
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, DNA Mutational Analysis, Peutz-Jeghers Syndrome, Alu element, Peutz–Jeghers syndrome, Protein Serine-Threonine Kinases, Biology, Polymerase Chain Reaction, Young Adult, Germline mutation, AMP-Activated Protein Kinase Kinases, Alu Elements, Genetics, medicine, Humans, Multiplex ligation-dependent probe amplification, Child, skin and connective tissue diseases, Germ-Line Mutation, Genetics (clinical), Breakpoint, Infant, Chromosome Breakage, Nucleic acid amplification technique, Middle Aged, medicine.disease, Molecular biology, Child, Preschool, Female, Chromosome Deletion, Chromosome breakage, Haploinsufficiency, Chromosomes, Human, Pair 19, Nucleic Acid Amplification Techniques, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0da3b286cdbcd6a416b89a0a553dd74cTest
https://doi.org/10.1007/s00439-010-0859-7Test -
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المؤلفون: Roberto Giorda, Maria Nobile, Cecilia Marino, Ombretta Carlet, Laura Vanzin, Marco Battaglia, Monica Bellina, Marianna Rusconi, Massimo Molteni
المساهمون: Department of Child Psychiatry, Eugenio Medea Scientific Institute, Molecular Biology Laboratory, Department of Psychiatry, CRULRG, Université Laval [Québec] (ULaval), Centre for the Study of Behavioural Plasticity, Universita Vita Salute San Raffaele = Vita-Salute San Raffaele University [Milan, Italie] (UniSR)
المصدر: European Child & Adolescent Psychiatry
European Child and Adolescent Psychiatry
European Child and Adolescent Psychiatry, Springer Verlag (Germany), 2009, 19 (7), pp.549-557. ⟨10.1007/s00787-009-0080-1⟩مصطلحات موضوعية: Male, Statistics as Topic, CBCL, Personality Assessment, Social Environment, Developmental psychology, COMT polymorphism, 0302 clinical medicine, ddc:150, Developmental and Educational Psychology, Child and adolescent psychiatry, Psychology, Child, Psychological Disorders, Mental Health Treatment and Prevention, 05 social sciences, General Medicine, SES, ADHD, Gene–environment interaction, Psychiatry and Mental health, Italy, Attention Deficit and Disruptive Behavior Disorders, psychische Störungen, Behandlung und Prävention, Female, Social Adjustment, 050104 developmental & child psychology, Conduct Disorder, medicine.medical_specialty, Adolescent, Genotype, Affect (psychology), behavioral disciplines and activities, Genetic determinism, 03 medical and health sciences, mental disorders, medicine, Humans, Genetic Predisposition to Disease, 0501 psychology and cognitive sciences, Socioeconomic status, Alleles, Polymorphism, Genetic, Catechol-O-methyl transferase, Social environment, Mental health, Cross-Sectional Studies, Socioeconomic Factors, Psychologie, Attention Deficit Disorder with Hyperactivity, Pediatrics, Perinatology and Child Health, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::010d67bd3e7bf64304f015ab4519823dTest
https://doi.org/10.1007/s00787-009-0080-1Test -
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المؤلفون: Orsetta Zuffardi, A. Sensi, Stefania Bigoni, Panos Deloukas, Roberto Giorda, Antonella Capucci, Cristina De Agostini, Silvana Beri, Rhian Gwilliam, Ian Dunham, Maria Clara Bonaglia, Anna Baroncini
المصدر: European Journal of Human Genetics. 17:426-433
مصطلحات موضوعية: Adult, congenital, hereditary, and neonatal diseases and abnormalities, Chromosomes, Human, Pair 22, Gene Conversion, Germline mosaicism, Marker analysis, Biology, Genetics, medicine, Humans, Gene conversion, In Situ Hybridization, Fluorescence, Genetics (clinical), Isodisomy, Mosaicism, Karyotype, Articles, Uniparental Disomy, medicine.disease, Molecular biology, Phenotype, Uniparental disomy, Karyotyping, Microsatellite, Female, Chromosome Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14e5f917e9356a4a22e305d5bc1adc6cTest
https://doi.org/10.1038/ejhg.2008.195Test -
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المؤلفون: Giorgio Gimelli, Rita Grasso, Orsetta Zuffardi, Roberto Giorda, María Luisa Martínez-Frías, Susan Marelli, Joke B. G. M. Verheij, Stefania Gimelli, Laura Canabal Rodríguez, Maria Clara Bonaglia, Renato Borgatti, Conny M. A. van Ravenswaaij, Roberto Ciccone, Filomena Pagone
المصدر: European Journal of Human Genetics, 16(12), 1443-1449. Nature Publishing Group
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Genotype, ARRAY CGH, Chromosomal rearrangement, Biology, chromosome 6q deletion, Gene mapping, Genetics, medicine, Humans, Global developmental delay, AUTISM, Genetics (clinical), RECEPTOR, Prader-Willi-like phenotype, SIM1 GENE, Chromosome Mapping, Infant, nutritional and metabolic diseases, GLUTAMATE-RECEPTOR-6 GENE, ASSOCIATION, Phenotype, BIRTH INCIDENCE, Hypotonia, PREVALENCE, nervous system diseases, OBESITY, Child, Preschool, Cytogenetic Analysis, SIM1, Chromosomes, Human, Pair 6, Female, Chromosome Deletion, medicine.symptom, Haploinsufficiency, Prader-Willi Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33d7a3f140fc5e3fb4db11b44d5bfa36Test
https://doi.org/10.1038/ejhg.2008.119Test
