المؤلفون: Dias, K. R., Carlston, C. M., Blok, L. E. R., De Hayr, L., Nawaz, U., Evans, C. A., Bayrak-Toydemir, P., Htun, S., Zhu, Y., Ma, A., Lynch, S. A., Moorwood, C., Stals, K., Ellard, S., Bainbridge, M. N., Friedman, J., Pappas, J. G., Rabin, R., Nowak, C. B., Douglas, J., Wilson, T. E., Guillen Sacoto, M. J., Mullegama, S. V., Palculict, T. B., Kirk, E. P., Pinner, J. R., Edwards, M., Montanari, F., Graziano, C., Pippucci, T., Dingmann, B., Glass, I., Mefford, H. C., Shimoji, T., Suzuki, T., Yamakawa, K., Streff, H., Schaaf, C. P., Slavotinek, A. M., Voineagu, I., Carey, J. C., Buckley, M. F., Schenck, A., Harvey, R. J., Roscioli, T.

مصطلحات موضوعية: Brain/metabolism, Gene Expression Regulation, Humans, Intellectual Disability/genetics, Neurodevelopmental Disorders/genetics/metabolism, Protein Domains, Whole Exome Sequencing, Developmental delay, Intellectual disability, Protein hub, Zmynd8

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S1098-3600Test(22)00803-6; Genet Med. 2022 Sep;24(9):1952-1966. doi:10.1016/j.gim.2022.06.001. Epub 2022 Aug 1.; https://rde.dspace-express.com/handle/11287/622662Test; Genetics in medicine

الإتاحة: https://doi.org/10.1016/j.gim.2022.06.001Test
https://rde.dspace-express.com/handle/11287/622662Test

المؤلفون: Pruccoli J., Graziano C., Locatelli C., Maltoni L., Sheikh Maye H. A., Cordelli D. M.

المساهمون: Pruccoli J., Graziano C., Locatelli C., Maltoni L., Sheikh Maye H.A., Cordelli D.M.

مصطلحات موضوعية: EBF3, Magnetic resonance imaging (MRI), Neurology, Neuroradiology, R(10), R10, Ring chromosome 10, ZMYND11, Brain, Cell Cycle Protein, Child, Preschool, Chromosome Disorder, Chromosomes, Human, Pair 10, Co-Repressor Protein, DNA-Binding Protein, Developmental Disabilitie, Female, Intellectual Disability, Ring Chromosome, Syndrome, Transcription Factor, Phenotype

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34680908; info:eu-repo/semantics/altIdentifier/wos/WOS:000717083400001; volume:12; issue:10; firstpage:1513; lastpage:1513; numberofpages:10; journal:GENES; http://hdl.handle.net/11585/857161Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85116052418; https://www.mdpi.com/2073-4425/12/10/1513/htmTest

الإتاحة: https://doi.org/10.3390/genes12101513Test
http://hdl.handle.net/11585/857161Test
https://www.mdpi.com/2073-4425/12/10/1513/htmTest

المؤلفون: Magini P., Scarano E., Donati I., Sensi A., Mazzanti L., Perri A., Tamburrino F., Mongelli P., Percesepe A., Visconti P., Parmeggiani A., Seri M., Graziano C.

المساهمون: Magini, P., Scarano, E., Donati, I., Sensi, A., Mazzanti, L., Perri, A., Tamburrino, F., Mongelli, P., Percesepe, A., Visconti, P., Parmeggiani, A., Seri, M., Graziano, C.

مصطلحات موضوعية: 17p13.1 duplication, Autism, DNMT3A, Intellectual disability, SND1, Xq13.1 duplication, Adult, Autistic Disorder, Child, Preschool, DNA Copy Number Variation, Endonuclease, Epilepsy, Female, Human, Infant, Kinesin, Male, Neurodevelopmental Disorder, Nuclear Protein, Transcription Factors

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000472241500021; volume:706; firstpage:162; lastpage:171; numberofpages:10; journal:GENE; http://hdl.handle.net/11381/2868674Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85065647984; www.elsevier.com/locate/gene

الإتاحة: https://doi.org/10.1016/j.gene.2019.05.007Test
http://hdl.handle.net/11381/2868674Test

المؤلفون: Di Pisa V., Provini F., Ubertiello S., Bonetti S., Ricci E., Ivanovski I., Caraffi S. G., Giordano L., Accorsi P., Savasta S., Raviglione F., Boni A., Grioni D., Graziano C., Garavelli L., Cordelli D. M.

المساهمون: V. Di Pisa, F. Provini, S. Ubertiello, S. Bonetti, E. Ricci, I. Ivanovski, S.G. Caraffi, L. Giordano, P. Accorsi, S. Savasta, F. Raviglione, A. Boni, D. Grioni, C. Graziano, L. Garavelli, D.M. Cordelli

مصطلحات موضوعية: ESES, Mowat-wilson syndrome, Sleep disturbance, Video-polysomnography, Adolescent, Adult, Age Factor, Child, Preschool, Electroencephalography, Facie, Female, Hirschsprung Disease, Human, Infant, Intellectual Disability, Italy, Male, Microcephaly, Sleep, Sleep Wake Disorder, Surveys and Questionnaire, Young Adult, Polysomnography, Video Recording, Settore MED/39 - Neuropsichiatria Infantile

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31285160; info:eu-repo/semantics/altIdentifier/wos/WOS:000483911300008; volume:61; firstpage:44; lastpage:51; numberofpages:8; journal:SLEEP MEDICINE; http://hdl.handle.net/2434/897085Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068249885

الإتاحة: https://doi.org/10.1016/j.sleep.2019.04.011Test
http://hdl.handle.net/2434/897085Test

المؤلفون: Graziano, C, Fusco, C, Nõukas, M, Sauk, M, Kurg, A, Rivieri, F, Blau, N, Hoffmann, Gf, Chaubey, A, Schwartz, Ce, Garavelli, L, WISCHMEIJER, TITIA ANITA, PIPPUCCI, TOMMASO, DIQUIGIOVANNI, CHIARA, ROMEO, GIOVANNI, BONORA, ELENA, SERI, MARCO

المساهمون: Graziano, C, Wischmeijer, A, Pippucci, T, Fusco, C, Diquigiovanni, C, Nõukas, M, Sauk, M, Kurg, A, Rivieri, F, Blau, N, Hoffmann, Gf, Chaubey, A, Schwartz, Ce, Romeo, G, Bonora, E, Garavelli, L, Seri, M.

مصطلحات موضوعية: DDC, Intellectual disability, Whole exome sequencing

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25597765; info:eu-repo/semantics/altIdentifier/wos/WOS:000350784300006; ispartofbook:Gene; volume:559; firstpage:144; lastpage:148; numberofpages:5; journal:GENE; http://hdl.handle.net/11585/454173Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84922431765

الإتاحة: https://doi.org/10.1016/j.gene.2015.01.026Test
http://hdl.handle.net/11585/454173Test

المؤلفون: MUCCIOLO, MAFALDA, Magini, P., MAROZZA, ANNABELLA, Mongelli, P., MENCARELLI, MARIA ANTONIETTA, Hayek, G., Tavalazzi, F., MARI, FRANCESCA, Seri, M., RENIERI, ALESSANDRA, Graziano, C.

المساهمون: Mucciolo, Mafalda, Magini, P., Marozza, Annabella, Mongelli, P., Mencarelli, MARIA ANTONIETTA, Hayek, G., Tavalazzi, F., Mari, Francesca, Seri, M., Renieri, Alessandra, Graziano, C.

مصطلحات موضوعية: Array comparative genomic hybridization, Body mass index, Cardiomyopathy, Chromosome 9q deletion, Dilated, Intellectual disability, Non-homologous DNA end joining

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24376033; info:eu-repo/semantics/altIdentifier/wos/WOS:000331978700017; ispartofbook:American Journal of Medical Genetics Part A; volume:164; issue:3; firstpage:685; lastpage:690; numberofpages:6; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11365/784242Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84894247453

الإتاحة: https://doi.org/10.1002/ajmg.a.36361Test
http://hdl.handle.net/11365/784242Test

المؤلفون: Jolly, L., Nguyen, L., Domingo, D., Sun, Y., Barry, S., Hancarova, M., Plevova, P., Vlckova, M., Havlovicova, M., Kalscheuer, V., Graziano, C., Pippucci, T., Bonora, E., Sedlacek, Z., Gecz, J.

المصدر: http://dx.doi.org/10.1093/hmg/ddv083Test.

مصطلحات موضوعية: Brain, Cells, Cultured, Animals, Humans, Mice, Oxidoreductases, Carrier Proteins, RNA, Small Interfering, Transduction, Genetic, Amino Acid Substitution, Pedigree, Cell Differentiation, Cell Proliferation, Gene Expression, RNA Interference, Amino Acid Sequence, Active Transport, Cell Nucleus, Mutation, Female, Male, Host Cell Factor C1, HEK293 Cells, Neural Stem Cells, Intellectual Disability

العلاقة: http://purl.org/au-research/grants/nhmrc/628952Test; http://purl.org/au-research/grants/nhmrc/1041920Test; Human Molecular Genetics, 2015; 24(12):3335-3347; http://hdl.handle.net/2440/92072Test; Jolly, L. [0000-0003-4538-2658]; Barry, S. [0000-0002-0597-7609]; Gecz, J. [0000-0002-7884-6861]

الإتاحة: https://doi.org/10.1093/hmg/ddv083Test
http://hdl.handle.net/2440/92072Test

المؤلفون: Mucciolo, M., Magini, P., Marozza, A., Mongelli, P., Mencarelli, M.A., Hayek, G., Tavalazzi, F., Mari, F., Seri, M., Renieri, A., Graziano, C.

المصدر: American Journal of Medical Genetics. Part A; Mar2014, Vol. 164A Issue 3, p685-690, 6p

المؤلفون: Aa, Kashevarova, Na, Skryabin, Alexander Cheremnykh, En, Tolmacheva, Ea, Sazhenova, Oa, Salyukova, Nn, Chechetkina, Li, Didenko, Nn, Sukhanova, Ys, Yakovleva, Nb, Torkhova, Lp, Nazarenko, Magini P, Graziano C, Romeo G, In, Lebedev

المصدر: Europe PubMed Central

مصطلحات موضوعية: Male, Comparative Genomic Hybridization, Adolescent, Gene Duplication, Intellectual Disability, Humans, Female, Child, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::f06cb37f20131b140dc3fc32535a3c03Test
http://europepmc.org/abstract/med/24107884Test

المؤلفون: BONORA, ELENA, GRAZIANO, CLAUDIO, MINOPOLI, FIORELLA, BACCHELLI, ELENA, MAGINI, PAMELA, DIQUIGIOVANNI, CHIARA, LOMARTIRE, SILVIA, Bianco F, VARGIOLU, MANUELA, PARCHI, PIERO, MARASCO, ELENA, Mantovani V, Rampoldi L, Trudu M, PARMEGGIANI, ANTONIA, Battaglia A, Mazzone L, Tortora G, MAESTRINI, ELENA, SERI, MARCO, Romeo G, IMGSAC

المساهمون: Bonora E, Graziano C, Minopoli F, Bacchelli E, Magini P, Diquigiovanni C, Lomartire S, Bianco F, Vargiolu M, Parchi P, Marasco E, Mantovani V, Rampoldi L, Trudu M, Parmeggiani A, Battaglia A, Mazzone L, Tortora G, Maestrini E, Seri M, Romeo G, IMGSAC, Bonora, E, Graziano, C, Minopoli, F, Bacchelli, E, Magini, P, Diquigiovanni, C, Lomartire, S, Bianco, F, Vargiolu, M, Parchi, P, Marasco, E, Mantovani, V, Rampoldi, L, Trudu, M, Parmeggiani, A, Battaglia, A, Mazzone, L, Tortora, G, Maestrini, E, Seri, M, Romeo, G

المصدر: EMBO Molecular Medicine

مصطلحات موضوعية: Male, Vesicular Transport Proteins, Inbred C57BL, medicine.disease_cause, Mice, 0302 clinical medicine, autism spectrum disorders (ASDs), Receptors, Intellectual disability, Missense mutation, Developmental, Protein Interaction Maps, Child, Research Articles, Sequence Deletion, Genetics, Mutation, 0303 health sciences, monoallelic expression, Gene Expression Regulation, Developmental, Settore MED/39 - Neuropsichiatria Infantile, Pedigree, intellectual disability, Child, Preschool, DNA methylation, Molecular Medicine, CADPS2, Female, Corrigendum, Adult, Child Development Disorders, autism spectrum disorders, Nerve Tissue Proteins, Biology, 03 medical and health sciences, Young Adult, Dopamine D2, medicine, Animals, Humans, Allele, MUTATION SCREENING, Preschool, Gene, Alleles, Pervasive, 030304 developmental biology, Aged, Receptors, Dopamine D2, Calcium-Binding Proteins, Genetic Variation, Infant, DNA Methylation, medicine.disease, Mice, Inbred C57BL, Gene Expression Regulation, Child Development Disorders, Pervasive, Autism, CpG Islands, mutation screening, Intellectual Disability, 030217 neurology & neurosurgery

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e62e64e72958619aaabf16aeeae21a4Test
http://hdl.handle.net/11585/295519Test