المؤلفون: Bonaglia, M. C., Bertuzzo, S., Ciaschini, A. M., Discepoli, G., Castiglia, L., Romaniello, R., Zuffardi, O., Fichera, M.

المصدر: Molecular Cytogenetics
Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-8 (2020)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, lcsh:QH426-470, Balanced rearrangements, RYR2, Chromosomal translocation, Case Report, Haploinsufficiency, 030105 genetics & heredity, Biology, Genotype-phenotype, Biochemistry, 03 medical and health sciences, Neurodevelopmental disorder, Intellectual disability, Genetics, medicine, Global developmental delay, Molecular Biology, SHANK3, Genetics (clinical), Psychomotor retardation, Biochemistry (medical), Cytogenetics, Cardiac disorder, medicine.disease, Human genetics, lcsh:Genetics, 030104 developmental biology, Chromosomal breakpoints, Reciprocal translocation, Next-generation sequencing, Molecular Medicine, Phelan-McDermid syndrome, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d84b2cef31bb1679b0d38450fe24a3f0Test
http://hdl.handle.net/20.500.11769/499059Test

المؤلفون: Coppola, A., Cellini, E., Stamberger, H., Saarentaus, E., Cetica, V., Lal, D., Djemie, T., Bartnik-Glaska, M., Ceulemans, B., Helen Cross, J., Deconinck, T., Masi, S. D., Dorn, T., Guerrini, R., Hoffman-Zacharska, D., Kooy, F., Lagae, L., Lench, N., Lemke, J. R., Lucenteforte, E., Madia, F., Mefford, H. C., Morrogh, D., Nuernberg, P., Palotie, A., Schoonjans, A. -S., Striano, P., Szczepanik, E., Tostevin, A., Vermeesch, J. R., Van Esch, H., Van Paesschen, W., Waters, J. J., Weckhuysen, S., Zara, F., Jonghe, P. D., Sisodiya, S. M., Marini, C., Lehesjioki, A. -E., Craiu, D., Talvik, T., Caglayan, H., Serratosa, J., Sterbova, K., Moller, R. S., Hjalgrim, H., Lerche, H., Weber, Y., Helbig, I., von Spiczak, S., Barba, C., Bogaerts, A., Boni, A., Galizia, E. C., Chiari, S., Di Gacomo, G., Ferrari, A., Guarducci, S., Giglio, S., Holmgren, P., Leu, C., Melani, F., Novara, F., Pantaleo, M., Peeters, E., Pisano, T., Rosati, A., Sander, J., Schoeler, N., Stankiewicz, P., Striano, S., Suls, A., Traverso, M., Vandeweyer, G., Van Dijck, A., Zuffardi, O.

المساهمون: Coppola, Antonietta, Cellini, Elena, Stamberger, Hannah, Saarentaus, Elmo, Cetica, Valentina, Lal, Denni, Djémié, Tania, Bartnik-Glaska, Magdalena, Ceulemans, Berten, Helen Cross, J., Deconinck, Tine, Masi, Salvatore De, Dorn, Thoma, Guerrini, Renzo, Hoffman-Zacharska, Dorotha, Kooy, Frank, Lagae, Lieven, Lench, Nichola, Lemke, Johannes R., Lucenteforte, Ersilia, Madia, Francesca, Mefford, Heather C., Morrogh, Deborah, Nuernberg, Peter, Palotie, Aarno, Schoonjans, An-Sofie, Striano, Pasquale, Szczepanik, Elzbieta, Tostevin, Anna, Vermeesch, Joris R., Van Esch, Hilde, Van Paesschen, Wim, Waters, Jonathan J, Weckhuysen, Sarah, Zara, Federico, Jonghe, Peter De, Sisodiya, Sanjay M., Marini, Carla, Lehesjioki, Anna-Elina, Craiu, Dana, Talvik, Tiina, Caglayan, Hande, Serratosa, Jose, Sterbova, Katalin, Møller, Rikke S., Hjalgrim, Helle, Lerche, Holger, Weber, Yvonne, Helbig, Ingo, von Spiczak, Sarah, Barba, Carmen, Bogaerts, Anneleen, Boni, Antonella, Galizia, Elisabeth Caruana, Chiari, Sara, Di Gacomo, Gianpiero, Ferrari, Annarita, Guarducci, Silvia, Giglio, Sabrina, Holmgren, Philip, Leu, Costin, Melani, Federico, Novara, Francesca, Pantaleo, Marilena, Peeters, Elke, Pisano, Tiziana, Rosati, Anna, Sander, Josemir, Schoeler, Natasha, Stankiewicz, Pawel, Striano, Salvatore, Suls, Arvid, Traverso, Monica, Vandeweyer, Geert, Van Dijck, Anke, Zuffardi, Orsetta

المصدر: Epilepsia

مصطلحات موضوعية: epilepsy gene, Epilepsy, DNA Copy Number Variations, Genotype, Comorbidity, array CGH, copy number variants, epilepsy genes, SNP array, Phenotype, Neurology, mental disorders, Full‐length Original Research, Humans, copy number variant, Genetic Predisposition to Disease, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7bdb393e6939254f9400f7305e012582Test
http://hdl.handle.net/11567/1021944Test

المؤلفون: Coppola, A1, 2, 3, Cellini, E4, Stamberger, H5, 6, 7, Saarentaus, E8, 9, 10, Cetica, V4, Lal, D10, 11, 12, Djémié, T5, 6, Bartnik-Glaska, M13, Ceulemans, B14, Cross, JH15, 16, 17, Deconinck, T5, De Masi S7, Dorn, T18, Guerrini, R, Hoffman-Zacharska, D14, Kooy, F19, Lagae, L20, Lench, N21, Lemke, JR22, Lucenteforte, E23, Madia, F25, Mefford, HC26, Morrogh, D21, Nuernberg, P27, Palotie, A11, Schoonjans, AS15, Striano, P28, Szczepanik, E29, Tostevin, A1, 2, Vermeesch, JR30, Van Esch H30, Van Paesschen W31, Waters, JJ21, Weckhuysen, S5, 6, 12, Zara, F25, De Jonghe P5, Sisodiya, SM1, Marini, C, EuroEPINOMICS-RES, Consortium, Lehesjioki AE, EpiCNV Consortium., Craiu, D, Talvik, T, Caglayan, H, Serratosa, J, Sterbova, K, Møller, Rs, Hjalgrim, H, Lerche, H, Weber, Y, Helbig, I, von Spiczak, S, Barba, C, Bogaerts, A, Boni, A, Galizia, Ec, Chiari, S, Di Gacomo, G, Ferrari, A, Garducci, S, Giglio, S, Holmgren, P, Leu, C, Melani, F, Novara, F, Pantaleo, M, Peeters, E, Pisano, T, Rosati, A, Sander, J, Schoeler, N, Stankiewicz, P, Striano, S, Suls, A, Traverso, M, Vandeweyer, G, Van Dijck, A, Zuffardi, O.

مصطلحات موضوعية: epilepsy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______310::f19bf33fc433d1bda7a5b68d46c573bbTest
http://hdl.handle.net/2158/1151042Test

المؤلفون: Conti, V, Carabalona, A, Pallesi-Pocachard, E, Leventer, R, Schaller, F, Parrini, E, Deparis, A, Watrin, F, Buhler, E, Novara, F, Lise, S, Pagnamenta, A, Kini, U, Taylor, J, Zuffardi, O, Represa, A, Keays, D, Guerrini, R, Falace, A, Cardoso, C

المساهمون: Institut de Biologie du Développement de Marseille (IBDM), Aix Marseille Université (AMU)-Collège de France (CdF (institution))-Centre National de la Recherche Scientifique (CNRS), Institut de Neurobiologie de la Méditerranée [Aix-Marseille Université] (INMED - INSERM U901), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Pediatric Neurology Unit and Laboratories, Università degli Studi di Firenze = University of Florence (UniFI)-Children's Hospital A. Meyer, Cytogenetics, The Wellcome Trust Centre for Human Genetics [Oxford], University of Oxford, Department of Clinical Genetics [Churchill Hospital], Churchill Hospital Oxford Centre for Haematology, Biologia Generale e Genetica Medica, Università degli Studi di Pavia = University of Pavia (UNIPV), Epilepsie et ischémie cérébrale, Université de la Méditerranée - Aix-Marseille 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Istituto Di Ricovero e Cura a Carattere Scientifico (IRCCS), Stella Maris Foundation, Children's Hospital A. Meyer-Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), University of Oxford [Oxford], Università degli Studi di Pavia, Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI)-Children's Hospital A. Meyer

المصدر: Journal of visualized experiments : JoVE
Journal of visualized experiments : JoVE, 2017, 130, ⟨10.3791/53570⟩
Journal of visualized experiments : JoVE, JoVE, 2017, ⟨10.3791/53570⟩

مصطلحات موضوعية: Brain Chemistry, Comparative Genomic Hybridization, [SDV]Life Sciences [q-bio], [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Brain, DNA, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Rats, Malformations of Cortical Development, Disease Models, Animal, Electroporation, Pregnancy, Exome Sequencing, Animals, Humans, Female, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.BDD]Life Sciences [q-bio]/Development Biology, ComputingMilieux_MISCELLANEOUS, Neuroscience

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::bae9c5cf6a8e77af43c8e5f98aba9ce9Test
https://ora.ox.ac.uk/objects/uuid:0cf3a71c-3c18-4c6d-851c-d05bd5368b44Test

المؤلفون: Papadopoulou, Z. Papoulidis, I. Sifakis, S. Markopoulos, G. Vetro, A. Vlaikou, A.-M. Ziegler, M. Liehr, T. Thomaidis, L. Zuffardi, O. Syrrou, M. George, K. Manolakos, E.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______2127::8ef1976d52b18b5ea4d01e105875fcf3Test
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3087355Test

المؤلفون: LONARDO F, LUQUETTI DV, ANNUNZIATA I, DELLA MONICA M, PERONE L, GREGORI M, ZUFFARDI O, SCARANO G., PARENTI, GIANCARLO, BRUNETTI PIERRI, NICOLA, ANDRIA, GENEROSO

المساهمون: Lonardo, F, Parenti, Giancarlo, Luquetti, Dv, Annunziata, I, DELLA MONICA, M, Perone, L, De, Gregori, M, Zuffardi, O, BRUNETTI PIERRI, Nicola, Andria, Generoso, Scarano, G.

المصدر: European Journal of Medical Genetics. 50:301-308

مصطلحات موضوعية: Genetic Markers, Male, Ocular albinism, Chondrodysplasia Punctata, medicine.medical_specialty, Adolescent, Anosmia, Nerve Tissue Proteins, Short stature, Contiguous gene syndrome, Hypogonadotropic hypogonadism, Intellectual Disability, Internal medicine, Genetics, medicine, Humans, Abnormalities, Multiple, Chondrodysplasia punctata, Genetics (clinical), Chromosomes, Human, X, Extracellular Matrix Proteins, Ichthyosis, business.industry, General Medicine, medicine.disease, Dermatology, Osteochondrodysplasia, Phenotype, Endocrinology, Attention Deficit Disorder with Hyperactivity, Cytogenetic Analysis, Chromosome Deletion, medicine.symptom, business

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac209585936dd8b84ce848fb909cb715Test
https://doi.org/10.1016/j.ejmg.2007.04.005Test

المؤلفون: Rossi E., Radi O., De Lorenzi L., Iannuzzi A., Camerino G., Zuffardi O., Parma P.

المصدر: Sexual development
9 (2015): 155–161. doi:10.1159/000435871
info:cnr-pdr/source/autori:Rossi E.; Radi O.; De Lorenzi L.; Iannuzzi A.; Camerino G.; Zuffardi O.; Parma P./titolo:A Revised Genome Assembly of the Region 5? to Canine SOX9 Includes the RevSex Orthologous Region/doi:10.1159%2F000435871/rivista:Sexual development (Print)/anno:2015/pagina_da:155/pagina_a:161/intervallo_pagine:155–161/volume:9

مصطلحات موضوعية: Dog, Fish, Genome: SOX9

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=cnr_________::e413c4094394fecd1db995b3585690efTest

المؤلفون: Sousa, S. B., Hennekam, R. C., Abdul-Rahman, O., Alders, M., Azzarello-Burri, S., Bottani, A., Bowdin, S., Castori, M., Cormier-Daire, V., Deardorff, M., Del Campo Casanelles, M., Devriendt, K., Fauth, C., Filges, I., Fryer, A., Garavelli, L., Gillessen-Kaesback, G., Hall, B., Hirofumi, O., Holder, S., Hoyer, J., Jenkins, L., Klapeki, J., Krajewska-Walasek, M., Kosho, T., Kuechler, A., Macdermot, K., Magee, A., Mari, F., Mathieu-Dramard, M., Napier, M., Perez-Jurado, L. A., Picard, F. M., Morin, G., Murday, V., Pilch, J., Ronan, A., Rosser, E., Santen, G. W. E., Scott, R., Selicorni, A., Shannon, N., Santos-Simarro, F., Stewart, H., van den Boogaard, M. -J., Vilain, C., Vermeesch, J., Vogels, A., Wakeling, E., Wieczorek, D., Yesil, G., Zuffardi, O., Zweier, C.

المصدر: American journal of medical genetics. Part C, Seminars in medical genetics. (3)

مصطلحات موضوعية: Foot Deformities, Adult, Nicolaides-baraitser syndrome, Genotype, Adolescent, Foot Deformities, Congenital, Natural history, Hypotrichosis, Congenital, Young Adult, Intellectual Disability, SMARCA2, Humans, Abnormalities, Multiple, Preschool, Child, Genetic Association Studies, Epilepsy, BAF (SWI/SNF) complex, Intellectual disability, Phenotype, Child, Preschool, Face, Facies, Hair, Skin Abnormalities, Transcription Factors, Mutation, Abnormalities, Multiple

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8d5d02eb4f0616e19e9792d85dfaf201Test
https://pubmed.ncbi.nlm.nih.gov/25169058Test

المؤلفون: TINUPER, PAOLO, BISULLI, FRANCESCA, CEVOLANI, DANIELA, GALLASSI, ROBERTO, SERI, MARCO, Broli, M, Mastrangelo, M, Fontana, E, Fiocchi, I, Zucca, C, Bonaglia, Mc, Reitano, S, Corrado, R, Agati, R, Bernardi, B, Magini, P, Oppi, F, Poda, R, Giorda, R, Zuffardi, O, Dalla Bernardina, B.

المساهمون: Tinuper, P, Broli, M, Bisulli, F, Mastrangelo, M, Fontana, E, Fiocchi, I, Zucca, C, Bonaglia, Mc, Reitano, S, Corrado, R, Agati, R, Bernardi, B, Cevolani, D, Gallassi, R, Magini, P, Oppi, F, Poda, R, Giorda, R, Zuffardi, O, Dalla Bernardina, B., Seri, M

مصطلحات موضوعية: mental retardation, speech impairment, Xp11.22-11.23

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______4094::103c57e894ce49c89ab3e6930ebf790bTest
http://hdl.handle.net/11585/579799Test

المؤلفون: Bon, B.W.M. van, Koolen, D.A., Brueton, L., McMullan, D., Lichtenbelt, K.D., Ades, L.C., Peters, G., Gibson, K., Moloney, S., Novara, F., Pramparo, T., Bernardina, B. Dalla, Zoccante, L., Balottin, U., Piazza, F., Pecile, V., Gasparini, P., Guerci, V., Kets, M., Pfundt, R., Brouwer, A.P.M. de, Veltman, J.A., Leeuw, N. de, Wilson, M., Antony, J., Reitano, S., Luciano, D., Fichera, M., Romano, C, Brunner, H.G., Zuffardi, O., Vries, L.B.A. de

المساهمون: VAN BON, Bw, Koolen, Da, Brueton, L, Mcmullan, D, Lichtenbelt, Kd, Adès, Lc, Peters, G, Gibson, K, Novara, F, Pramparo, T, Bernardina, Bd, Zoccante, L, Balottin, U, Piazza, F, Pecile, V, Gasparini, Paolo, Guerci, V, Kets, M, Pfundt, R, DE BROUWER, Ap, Veltman, Ja, DE LEEUW, N, Wilson, M, Antony, J, Reitano, S, Luciano, D, Fichera, M, Romano, C, Brunner, Hg, Zuffardi, O, DE VRIES, Bb

المصدر: European Journal of Human Genetics, 18, 2, pp. 163-70
European Journal of Human Genetics, 18, 163-70

مصطلحات موضوعية: Male, Microcephaly, Genetics and epigenetic pathways of disease [NCMLS 6], 2q23.1 microdeletion syndrome, Rett syndrome, phenotype, behaviour, Short stature, Article, MECP2, Genomic disorders and inherited multi-system disorders [IGMD 3], Intellectual Disability, Intensive Care Units, Neonatal, Angelman syndrome, Rett Syndrome, Genetics, Humans, Medicine, Child, Genetics (clinical), Sequence Deletion, Cesarean Section, Learning Disabilities, business.industry, Infant, Newborn, Chromosome Mapping, Microdeletion syndrome, medicine.disease, Phenotype, Chromosomes, Human, Pair 2, Speech delay, Female, Angelman Syndrome, medicine.symptom, Corrigendum, business, Haploinsufficiency

وصف الملف: STAMPA; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::325b0cdd6d84618af6b2d3e913c1aae8Test
https://hdl.handle.net/11368/3112Test