المؤلفون: Maria Clara Bonaglia, Roberto Giorda, Silvana Beri, Cristina De Agostini, Francesca Novara, Marco Fichera, Lucia Grillo, Ornella Galesi, Annalisa Vetro, Roberto Ciccone, Maria Teresa Bonati, Sabrina Giglio, Renzo Guerrini, Sara Osimani, Susan Marelli, Claudio Zucca, Rita Grasso, Renato Borgatti, Elisa Mani, Cristina Motta, Massimo Molteni, Corrado Romano, Donatella Greco, Santina Reitano, Anna Baroncini, Elisabetta Lapi, Antonella Cecconi, Giulia Arrigo, Maria Grazia Patricelli, Chiara Pantaleoni, Stefano D'Arrigo, Daria Riva, Francesca Sciacca, Bernardo Dalla Bernardina, Leonardo Zoccante, Francesca Darra, Cristiano Termine, Emanuela Maserati, Stefania Bigoni, Emanuela Priolo, Armand Bottani, Stefania Gimelli, Frederique Bena, Alfredo Brusco, Eleonora di Gregorio, Irene Bagnasco, Ursula Giussani, Lucio Nitsch, Pierluigi Politi, Maria Luisa Martinez-Frias, Maria Luisa Martínez-Fernández, Nieves Martínez Guardia, Anna Bremer, Britt-Marie Anderlid, Orsetta Zuffardi

المصدر: PLoS Genetics, Vol 7, Iss 7, p e1002173 (2011)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC3136441?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test

الوصول الحر: https://doaj.org/article/5c43355a53914e768e4abdfa928036cfTest

المؤلفون: S. Amata, Corrado Romano, Concetta Barone, Michele Falco, Marco Fichera, Angela Spalletta, Santina Reitano, G. Belfiore, M. Bottitta, Lucia Grillo

المصدر: European Journal of Medical Genetics. 53:113-116

مصطلحات موضوعية: Nucleocytoplasmic Transport Proteins, Muscle Hypotonia, Biology, Short stature, X-inactivation, Intellectual Disability, Gene cluster, Genetics, medicine, Humans, RNA, Messenger, Child, Genetics (clinical), X chromosome, Chromosomes, Human, X, Comparative Genomic Hybridization, Mental Disorders, RNA-Binding Proteins, Chromosome, General Medicine, medicine.disease, Hypotonia, Phenotype, Multigene Family, Autism, Female, Chromosome Deletion, medicine.symptom, Microsatellite Repeats

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dd7c5e890cc8acb9fb05e0a7d6fd02fTest
https://doi.org/10.1016/j.ejmg.2010.01.001Test

المؤلفون: Kornelia Neveling, Marjolein H. Willemsen, Donatella Greco, Lisenka E.L.M. Vissers, Ilse I.G.M. van de Vondervoort, Michèl A.A.P. Willemsen, Joep de Ligt, Joris A. Veltman, Rolph Pfundt, Christian Gilissen, Anneke T. Vulto-van Silfhout, Janneke H M Schuurs-Hoeijmakers, Irene M. Janssen, Aurelio Vitello, Bregje W.M. van Bon, Hans van Bokhoven, Bert B.A. de Vries, Tjitske Kleefstra, Arjan P.M. de Brouwer, Pinella Failla, Han G. Brunner, Gausiya Hira, Ornella Galesi, Marie T. Greally, Marco Fichera, Jayne Y. Hehir-Kwa, Ernie M.H.F. Bongers, Marisol del Rosario, Charlotte W. Ockeloen, Corrado Romano, Santina Reitano

المصدر: Journal of Medical Genetics, 50, 12, pp. 802-11
Journal of Medical Genetics, 50, 802-11

مصطلحات موضوعية: Male, medicine.medical_specialty, Candidate gene, Genetics and epigenetic pathways of disease [NCMLS 6], DCN MP - Plasticity and memory, DNA Mutational Analysis, Population, DCN PAC - Perception action and control, Biology, medicine.disease_cause, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Genomic disorders and inherited multi-system disorders [IGMD 3], Intellectual Disability, Molecular genetics, Genetics, medicine, Humans, Exome, Family, DCN PAC - Perception action and control NCEBP 9 - Mental health, education, Gene, Genetics (clinical), Exome sequencing, Renal disorder [IGMD 9], education.field_of_study, Mutation, Effective primary care and public health [NCEBP 7], Pedigree, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Female, Human genome, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77acf7dfbe5009b2033d606f23a9f5cbTest
http://hdl.handle.net/20.500.11769/57471Test

المؤلفون: Jillian R Ozmore, Laura Roos, Pim Suwannarat, Chumei Li, A. James Barkovich, Ferrin C. Wheeler, Christina Fels, Taha Ben Saad, Swaroop Aradhya, Arthur S. Aylsworth, Karen W. Gripp, Jennifer Hair, John B. Moeschler, Carol E. Anderson, Donatella Greco, Jesper Graakjaer, Raymond C. Tervo, Cynthia J. Curry, Anne chun-hui Tsai, Susan Sell, Marta Szybowska, Elizabeth Hopkins, Erica T. Grant, Giedre Dybose, Marlene Huggins, William B. Dobyns, Dina J Zand, Mark A. Tarnopolsky, Dea Svaneby, Rhonda E. Schnur, Marco Fichera, Jill A. Rosenfeld, Lisa G. Shaffer, Christina Fagerberg, Megan Tucker, Stephanie E. Vallee, Corrado Romano, Victor V. Chizhikov, Santina Reitano, Roger L. Ladda, Małgorzata J.M. Nowaczyk, Michelle Falco

المصدر: Curry, C J, Rosenfeld, J A, Grant, E, Gripp, K W, Anderson, C, Aylsworth, A S, Saad, T B, Chizhikov, V V, Dybose, G, Fagerberg, C, Falco, M, Fels, C, Fichera, M, Graakjaer, J, Greco, D, Hair, J, Hopkins, E, Huggins, M, Ladda, R, Li, C, Moeschler, J, Nowaczyk, M J M, Ozmore, J R, Reitano, S, Romano, C, Roos, L K S, Schnur, R E, Sell, S, Suwannarat, P, Svaneby, D, Szybowska, M, Tarnopolsky, M, Tervo, R, Tsai, A C-H, Tucker, M, Vallee, S, Wheeler, F C, Zand, D J, Barkovich, A J, Aradhya, S, Shaffer, L G & Dobyns, W B 2013, ' The duplication 17p13.3 phenotype : analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes ', American Journal of Medical Genetics. Part A, vol. 161, no. 8, pp. 1833-1852 . https://doi.org/10.1002/ajmg.a.35996Test

مصطلحات موضوعية: Marfan syndrome, Proband, Adult, Male, Adolescent, Split hand foot long bone deficiency, Autism, Child Behavior Disorders, Biology, Microarray, Corpus callosum, ABR, Article, Gene Duplication, Gene duplication, Genetics, medicine, Humans, YWHAE, Child, Genetics (clinical), Brain, Infant, medicine.disease, Phenotype, Cleft lip/palate, LIS1, BHLHA9, 14-3-3 Proteins, Child Development Disorders, Pervasive, Child, Preschool, Marfanoid habitus, 1-Alkyl-2-acetylglycerophosphocholine Esterase, Cerebellar vermis, 17p13.3, Female, Microtubule-Associated Proteins, Chromosomes, Human, Pair 17

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef0c3285077de811ab65b76ea89d6761Test
https://pubmed.ncbi.nlm.nih.gov/23813913Test

المؤلفون: Roberto Giorda, Susan Marelli, Santina Reitano, Alfredo Brusco, Renzo Guerrini, Maria Grazia Patricelli, Nieves Martínez Guardia, María Luisa Martínez-Frías, Maria Clara Bonaglia, Stefano D'Arrigo, Donatella Greco, Frédérique Béna, Antonella Cecconi, Sara Osimani, Bernardo Dalla Bernardina, Maria Luisa Martínez-Fernández, Pierluigi Politi, Cristina De Agostini, Elisa Mani, Lucia Grillo, Elisabetta Lapi, Sabrina Giglio, Stefania Bigoni, Francesca Novara, Claudio Zucca, Corrado Romano, Silvana Beri, Renato Borgatti, Rita Grasso, Roberto Ciccone, Marco Fichera, Anna Bremer, Emanuela Priolo, Anna Baroncini, Emanuela Maserati, Irene Bagnasco, Stefania Gimelli, Lucio Nitsch, Cristina Motta, Britt-Marie Anderlid, Ornella Galesi, Annalisa Vetro, Orsetta Zuffardi, Francesca L. Sciacca, Chiara Pantaleoni, Giulia Arrigo, Leonardo Zoccante, Ursula Giussani, Daria Riva, Maria Teresa Bonati, Francesca Darra, Massimo Molteni, Eleonora Di Gregorio, Cristiano Termine, Armand Bottani

المساهمون: M. C., Bonaglia, R., Giorda, S., Beri, C. D., Agostini, F., Novara, M., Fichera, L., Grillo, O., Galesi, A., Vetro, R., Ciccone, M. T., Bonati, S., Giglio, R., Guerrini, S., Osimani, S., Marelli, C., Zucca, R., Grasso, R., Borgatti, E., Mani, C., Motta, M., Molteni, C., Romano, D., Greco, S., Reitano, A., Baroncini, E., Lapi, A., Cecconi, G., Arrigo, M. G., Patricelli, C., Pantaleoni, S., D'Arrigo, D., Riva, F., Sciacca, B. D., Bernardina, L., Zoccante, F., Darra, C., Termine, E., Maserati, S., Bigoni, E., Priolo, A., Bottani, S., Gimelli, F., Bena, A., Brusco, E. d., Gregorio, I., Bagnasco, U., Giussani, Nitsch, Lucio, P., Politi, M. L., Martinez Fria, M. L., Martinez Fernandez, N. M., Guardia, A., Bremer, B., Anderlid, O., Zuffardi

المصدر: PLoS Genetics
PLoS Genetics, Vol 7, Iss 7, p e1002173 (2011)

مصطلحات موضوعية: Male, Parents, Cancer Research, Chromosomes, Human, Pair 22, Ring chromosome, 22q13 deletion syndrome, Chromosome Disorders, Germline, Translocation, Genetic, Chromosomal Disorders, Phelan/McDermid Syndrome, Ring Chromosomes, Child, SHANK3, Genetics (clinical), Sequence Deletion, Genetics, Aged, 80 and over, Comparative Genomic Hybridization, deletion 22q13, Chromosomal Deletions and Duplications, Middle Aged, Phelan McDermid, Child, Preschool, Cytogenetic Analysis, Translocations, Medicine, Female, Chromosome Deletion, Haploinsufficiency, Research Article, Adult, Monosomy, SCAFFOLDING PROTEIN SHANK3, CHROMOSOME BREAKAGE, SUBTELOMERIC PROBES, ALZHEIMERS-DISEASE, MENTAL-RETARDATION, ALPHA-THALASSEMIA, TELOMERE CAPTURE, MONOSOMY 1P36, ARRAY CGH, GENE, lcsh:QH426-470, Adolescent, Molecular Sequence Data, Biology, Cytogenetics, Young Adult, medicine, Humans, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Aged, Clinical Genetics, Base Sequence, Breakpoint, Infant, Newborn, Infant, Human Genetics, medicine.disease, Telomere, lcsh:Genetics, microdeletion, array-CGH, Chromosome 22

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::335360b771b2a49017f302b173240fe2Test
http://hdl.handle.net/11588/461171Test

المؤلفون: Corrado Romano, Roberto Giorda, Girolamo Aurelio Vitello, Maria Savio, Massimo Mastrangelo, M. Broli, Roberto Poda, B. Bernardi, Francesca Bisulli, Santina Reitano, Roberto Gallassi, Marco Seri, Orsetta Zuffardi, Isabella Fiocchi, Claudio Zucca, Paolo Tinuper, Elena Fontana, Sebastiano A. Musumeci, Maria Clara Bonaglia, Daniela Cevolani, Bernardo Dalla Bernardina, Raffaele Agati, Serafino Buono

المساهمون: Broli M., Bisulli F., Mastrangelo M., Fontana E., Fiocchi I., Zucca C., Bonaglia M.C., Buono S., Musumeci S.A., Romano C., Reitano S., Savio M., Vitello G.A., Bernardi B., Cevolani D., Agati R., Poda R., Gallassi R., Giorda R., Zuffardi O., Bernardina B.D., Seri M., Tinuper P.

مصطلحات موضوعية: Adult, Male, Xp11.2211.23, medicine.medical_specialty, Pediatrics, Neurology, Adolescent, Gene Dosage, Neural Conduction, speech impairment, Neurological examination, Status epilepticus, Electroencephalography, Neuropsychological Tests, mental retardation, Gene Duplication, Intellectual Disability, medicine, Humans, Neuropsychological assessment, Child, In Situ Hybridization, Fluorescence, Chromosomes, Human, X, medicine.diagnostic_test, Electrodiagnosis, Neuropsychology, Brain, Magnetic resonance imaging, General Medicine, Magnetic Resonance Imaging, Phenotype, Speech delay, Female, Neurology (clinical), medicine.symptom, Nervous System Diseases, Psychology, Neuroscience

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::489eb5bee8b1d87ab9585b12c18c8af8Test
http://hdl.handle.net/11585/107078Test

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/

المؤلفون: Geert Vandeweyer, Willy M. Nillesen, Sven Parkel, P Finnemore, John C. K. Barber, F Kooy, Bart Loeys, K Lachlan, John A. Crolla, Carl Baker, Nicola Foulds, N. Van der Aa, Viv K. Maloney, Luis A. Pérez-Jurado, B. B. A. De Vries, Tjitske Kleefstra, R. Pfundt, T.J.L. de Ravel, Ernie M.H.F. Bongers, Jeffrey W. Innis, Samantha J. L. Knight, L E Connell, Joris Vermeesch, Ants Kurg, Franki Speleman, S Huang, M van Kalmthout, Heather C Mefford, Marcelo A. Nobrega, Han G. Brunner, Christopher Geoffrey Woods, N. de Leeuw, B W M van Bon, Marco Fichera, Catherine Mercer, Clara Serra-Juhé, Sandra Janssens, C M A van Ravenswaaij, Ingrid Simonic, Björn Menten, Geert Mortier, Maurizio Elia, Alexandre C. Pereira, Lionel Willatt, J. P. Fryns, B Castle, Andrew J. Sharp, Katrin Õunap, A Oostra, Santina Reitano, Corrado Romano, David A. Koolen, H. Stewart, K Smith, Evan E. Eichler

المساهمون: Clinical sciences, Medical Genetics, Erasmushogeschool Brussel, Chemical Engineering and Industrial Chemistry, Faculty of Engineering, Vrije Universiteit Brussel, Faculty of Psychology and Educational Sciences, Faculty of Law and Criminology

المصدر: JOURNAL OF MEDICAL GENETICS, 46(8), 511-523. BMJ PUBLISHING GROUP
JOURNAL OF MEDICAL GENETICS
Journal of medical genetics
Journal of Medical Genetics, 46, 8, pp. 511-23
Journal of Medical Genetics, 46, 511-23

مصطلحات موضوعية: Proband, Male, LINKAGE DISEQUILIBRIUM, Genetics and epigenetic pathways of disease [NCMLS 6], Chromosome Disorders, Disease, Bioinformatics, CHROMOSOME 22Q11, Epilepsy, PRADER-WILLI, Chromosome Disorders/genetics, Gene Duplication, Gene duplication, HUMAN GENOME, Copy-number variation, MOLECULAR CHARACTERIZATION, Child, Genetics (clinical), Segmental duplication, Oligonucleotide Array Sequence Analysis, Genetics, Chromosomes, Human, Pair 15/genetics, ABSENT-RADIUS SYNDROME, Microdeletion syndrome, syndrome, Pedigree, Female, pregnancy, Chromosome Deletion, Functional Neurogenomics [DCN 2], Adult, Adolescent, Child, preschool, SEGMENTAL DUPLICATIONS, COPY-NUMBER VARIATION, Biology, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Intellectual Disability, medicine, Humans, Clinical significance, Chromosome Aberrations, Chromosomes, Human, Pair 15, Infant, Newborn, Infant, medicine.disease, Intellectual Disability/genetics, Human medicine, ARRAY-CGH, MENTAL-RETARDATION

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d06febf35b11ebd2e18af4936f3b546Test
https://hdl.handle.net/20.500.14017/5a89518b-61dd-4618-b6d6-30e671f9cca0Test

المؤلفون: Daniela Di Benedetto, Santina Reitano, Corrado Romano, Lucia Castiglia, Marco Fichera, Pinella Failla, Lucia Grillo

مصطلحات موضوعية: Male, Genotype, Chromosome Disorders, Biology, Multiple epiphyseal dysplasia, Intellectual Disability, Genetics, medicine, Humans, Nevus, Abnormalities, Multiple, Family history, Child, Genetics (clinical), Chromosome 12, Oligonucleotide Array Sequence Analysis, Chromosomes, Human, Pair 12, Psychomotor retardation, Nucleic Acid Hybridization, Anatomy, medicine.disease, Molecular biology, Phenotype, Face, Failure to thrive, Muscle Hypotonia, Chromosome Deletion, medicine.symptom, Single Palmar Crease, Syringocystadenoma papilliferum

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83c081c123cd58f9b5f79b4c70a2aad6Test
http://hdl.handle.net/20.500.11769/29619Test

المؤلفون: Corrado Romano, Roberto Canitano, Donatella Greco, Serafino Buono, Daniela Di Benedetto, Santina Reitano, Concetta Barone, Rossella Caselli, Marco Fichera, Vera Uliana, Giuseppe Hayek, Lucia Castiglia, Ornella Galesi, Alessandra Renieri, Marinella Zingale

مصطلحات موضوعية: Genetics, business.industry, Nucleic Acid Hybridization, Syndrome, medicine.disease, Nucleic acid thermodynamics, Gene Duplication, Gene duplication, dup, medicine, Autism, Humans, Abnormalities, Multiple, Autistic Disorder, business, Genetics (clinical), Chromosomes, Human, Pair 17

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5edc3dff45792d72f292db434b9449a5Test
http://hdl.handle.net/20.500.11769/46054Test