المؤلفون: Gil-Rodriguez, MC, Deardorff, MA, Ansari, M, Tan, CA, Parenti, I, Baquero-Montoya, C, Ousager, LB, Puisac, B, Hernandez-Marcos, M, Teresa-Rodrigo, ME, Marcos-Alcalde, I, Wesselink, JJ, Lusa-Bernal, S, Bijlsma, EK, Braunholz, D, Bueno-Martinez, I, Clark, D, Cooper, NS, Curry, CJ, Fisher, R, Fryer, A, Ganesh, J, Gervasini, C, Gillessen-Kaesbach, G, Guo, YR, Hakonarson, H, Hopkin, RJ, Kaur, M, Keating, BJ, Kibaek, M, Kinning, E, Kleefstra, T, Kline, AD, Kuchinskaya, E, Larizza, L, Li, YR, Liu, XZ, Mariani, M, Picker, JD, Pie, A, Pozojevic, J, Queralt, E, Richer, J, Roeder, E, Sinha, A, Scott, RH, So, J, Wusik, KA, Wilson, L, Zhang, JG, Gomez-Puertas, P, Casale, CH, Strom, L, Selicorni, A, Ramos, FJ, Jackson, LG, Krantz, ID, Das, S, Hennekam, RCM, Kaiser, FJ, FitzPatrick, DR, Pie, J

المصدر: Human mutation. 36(4):454-462

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:131076565Test

المؤلفون: Foroutan A., Haghshenas S., Bhai P., Levy M. A., Kerkhof J., McConkey H., Niceta M., Ciolfi A., Pedace L., Miele E., Genevieve D., Heide S., Alders M., Zampino G., Merla G., Fradin M., Bieth E., Bonneau D., Dieterich K., Fergelot P., Schaefer E., Faivre L., Vitobello A., Maitz S., Fischetto R., Gervasini C., Piccione M., van de Laar I., Tartaglia M., Sadikovic B., Lebre A. -S.

المساهمون: Foroutan A., Haghshenas S., Bhai P., Levy M.A., Kerkhof J., McConkey H., Niceta M., Ciolfi A., Pedace L., Miele E., Genevieve D., Heide S., Alders M., Zampino G., Merla G., Fradin M., Bieth E., Bonneau D., Dieterich K., Fergelot P., Schaefer E., Faivre L., Vitobello A., Maitz S., Fischetto R., Gervasini C., Piccione M., van de Laar I., Tartaglia M., Sadikovic B., Lebre A.-S.

مصطلحات موضوعية: Abnormalities, Multiple, Craniofacial Abnormalitie, DNA methylation, Epigenetic, Episignature, Facie, Growth Disorder, Human, Hypertrichosi, Intellectual disability, KMT2A gene, Neurodevelopmental disorder, Phenotype, Wiedemann–Steiner syndrome

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35163737; info:eu-repo/semantics/altIdentifier/wos/WOS:000759997000001; volume:23; issue:3; numberofpages:17; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/10447/547094Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85123938038

الإتاحة: https://doi.org/10.3390/ijms23031815Test
http://hdl.handle.net/10447/547094Test

المؤلفون: Levy M. A., McConkey H., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Bralo M. P., Cappuccio G., Ciolfi A., Clarke A., DuPont B. R., Elting M. W., Faivre L., Fee T., Fletcher R. S., Cherik F., Foroutan A., Friez M. J., Gervasini C., Haghshenas S., Hilton B. A., Jenkins Z., Kaur S., Lewis S., Louie R. J., Maitz S., Milani D., Morgan A. T., Oegema R., Østergaard E., Pallares N. R., Piccione M., Pizzi S., Plomp A. S., Poulton C., Reilly J., Relator R., Rius R., Robertson S., Rooney K., Rousseau J., Santen G. W. E., Santos-Simarro F., Schijns J., Squeo G. M., St John M., Thauvin-Robinet C., Traficante G., van der Sluijs P. J., Vergano S. A., Vos N., Walden K. K., Azmanov D., Balci T., Banka S., Gecz J., Henneman P., Lee J. A., Mannens M. M. A. M., Roscioli T., Siu V., Amor D. J., Baynam G., Bend E. G., Boycott K., Brunetti-Pierri N., Campeau P. M., Christodoulou J., Dyment D., Esber N., Fahrner J. A., Fleming M. D., Genevieve D., Kerrnohan K. D., McNeill A., Menke L. A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S. A., Stevenson R. E., Vitobello A., Tartaglia M., Alders M., Tedder M. L., Sadikovic B.

المساهمون: Levy M.A., McConkey H., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Bralo M.P., Cappuccio G., Ciolfi A., Clarke A., DuPont B.R., Elting M.W., Faivre L., Fee T., Fletcher R.S., Cherik F., Foroutan A., Friez M.J., Gervasini C., Haghshenas S., Hilton B.A., Jenkins Z., Kaur S., Lewis S., Louie R.J., Maitz S., Milani D., Morgan A.T., Oegema R., Østergaard E., Pallares N.R., Piccione M., Pizzi S., Plomp A.S., Poulton C., Reilly J., Relator R., Rius R., Robertson S., Rooney K., Rousseau J., Santen G.W.E., Santos-Simarro F., Schijns J., Squeo G.M., St John M., Thauvin-Robinet C., Traficante G., van der Sluijs P.J., Vergano S.A., Vos N., Walden K.K., Azmanov D., Balci T., Banka S., Gecz J., Henneman P., Lee J.A., Mannens M.M.A.M., Roscioli T., Siu V., Amor D.J., Baynam G., Bend E.G., Boycott K., Brunetti-Pierri N., Campeau P.M., Christodoulou J., Dyment D., Esber N., Fahrner J.A., Fleming M.D., Genevieve D., Kerrnohan K.D., McNeill A., Menke L.A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S.A., Stevenson R.E., Vitobello A., Tartaglia M., Alders M., Tedder M.L., Sadikovic B.

مصطلحات موضوعية: Clinical diagnostics, DNA methylation, Epigenetics, Episignatures, Neurodevelopmental disorders

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35047860; info:eu-repo/semantics/altIdentifier/wos/WOS:000787652900021; volume:3; issue:1; firstpage:100075; numberofpages:18; journal:HGG ADVANCES; https://hdl.handle.net/10447/620282Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85128406827

الإتاحة: https://doi.org/10.1016/j.xhgg.2021.100075Test
https://hdl.handle.net/10447/620282Test

المؤلفون: Rinaldi B., Ge Y. -H., Freri E., Tucci A., Granata T., Estienne M., Sun J. -H., Gerard B., Bayat A., Efthymiou S., Gervasini C., Shi Y. S., Houlden H., Marchisio P., Milani D.

المساهمون: B. Rinaldi, Y.-. Ge, E. Freri, A. Tucci, T. Granata, M. Estienne, J.-. Sun, B. Gerard, A. Bayat, S. Efthymiou, C. Gervasini, Y.S. Shi, H. Houlden, P. Marchisio, D. Milani

مصطلحات موضوعية: AMPAR, cerebellar hypoplasia, glutamate, GRIA3, myoclonic status epilepticus, Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34731330; info:eu-repo/semantics/altIdentifier/wos/WOS:000714312400001; volume:23; issue:1; firstpage:27; lastpage:35; numberofpages:9; journal:NEUROGENETICS; http://hdl.handle.net/2434/893317Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118528582

الإتاحة: https://doi.org/10.1007/s10048-021-00666-1Test
http://hdl.handle.net/2434/893317Test

المؤلفون: Levy, MA, McConkey, H, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, BR, Elting, MW, Faivre, L, Fee, T, Fletcher, RS, Cherik, F, Foroutan, A, Friez, MJ, Gervasini, C, Haghshenas, S, Hilton, BA, Jenkins, Z, Kaur, S, Lewis, S, Louie, RJ, Maitz, S, Milani, D, Morgan, AT, Oegema, R, Ostergaard, E, Pallares, NR, Piccione, M, Pizzi, S, Plomp, AS, Poulton, C, Reilly, J, Relator, R, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, GWE, Santos-Simarro, F, Schijns, J, Squeo, GM, St John, M, Thauvin-Robinet, C, Traficante, G, van der Sluijs, PJ, Vergano, SA, Vos, N, Walden, KK, Azmanov, D, Balci, T, Banka, S, Gecz, J, Henneman, P, Lee, JA, Mannens, MMAM, Roscioli, T, Siu, V, Amor, DJ, Baynam, G, Bend, EG, Boycott, K, Brunetti-Pierri, N, Campeau, PM, Christodoulou, J, Dyment, D, Esber, N, Fahrner, JA, Fleming, MD, Genevieve, D, Kerrnohan, KD, McNeill, A, Menke, LA, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, SA, Stevenson, RE, Vitobello, A, Tartaglia, M, Alders, M, Tedder, ML, Sadikovic, B

العلاقة: pii: S2666-2477(21)00056-7; Levy, M. A., McConkey, H., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., Cappuccio, G., Ciolfi, A., Clarke, A., DuPont, B. R., Elting, M. W., Faivre, L., Fee, T., Fletcher, R. S., Cherik, F., Foroutan, A., Friez, M. J., Gervasini, C., Haghshenas, S. ,. Sadikovic, B. (2022). Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders. HUMAN GENETICS AND GENOMICS ADVANCES, 3 (1), https://doi.org/10.1016/j.xhgg.2021.100075Test.; http://hdl.handle.net/11343/305257Test

الإتاحة: https://doi.org/10.1016/j.xhgg.2021.100075Test
http://hdl.handle.net/11343/305257Test

المؤلفون: Latorre-Pellicer A., Gil-Salvador M., Parenti I., Lucia-Campos C., Trujillano L., Marcos-Alcalde I., Arnedo M., Ascaso A., Ayerza-Casas A., Antonanzas-Perez R., Gervasini C., Piccione M., Mariani M., Weber A., Kanber D., Kuechler A., Munteanu M., Khuller K., Bueno-Lozano G., Puisac B., Gomez-Puertas P., Selicorni A., Kaiser F. J., Ramos F. J., Pie J.

المساهمون: Latorre-Pellicer A., Gil-Salvador M., Parenti I., Lucia-Campos C., Trujillano L., Marcos-Alcalde I., Arnedo M., Ascaso A., Ayerza-Casas A., Antonanzas-Perez R., Gervasini C., Piccione M., Mariani M., Weber A., Kanber D., Kuechler A., Munteanu M., Khuller K., Bueno-Lozano G., Puisac B., Gomez-Puertas P., Selicorni A., Kaiser F.J., Ramos F.J., Pie J.

مصطلحات موضوعية: Adolescent, Adult, Cell Cycle Proteins, Child, Preschool, Comparative Genomic Hybridization, De Lange Syndrome, Female, Gene Deletion, High-Throughput Nucleotide Sequencing, Humans, Male, Middle Aged, Mosaicism, Mutation, Missense, Phenotype, Retrospective Studies, Spain, Young Adult, Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34326454; info:eu-repo/semantics/altIdentifier/wos/WOS:000681066000050; volume:11; issue:1; firstpage:15459; numberofpages:11; journal:SCIENTIFIC REPORTS; http://hdl.handle.net/10447/534711Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85111629758

الإتاحة: https://doi.org/10.1038/s41598-021-94958-zTest
http://hdl.handle.net/10447/534711Test

المؤلفون: Cerrato F., Sparago A., Ariani F., Brugnoletti F., Calzari L., Coppede F., De Luca A., Gervasini C., Giardina E., Gurrieri F., Nigro C. L., Merla G., Miozzo M., Russo S., Sangiorgi E., Sirchia S. M., Squeo G. M., Tabano S., Tabolacci E., Torrente I., Genuardi M., Neri G., Riccio A.

المساهمون: Cerrato, F., Sparago, A., Ariani, F., Brugnoletti, F., Calzari, L., Coppede, F., De Luca, A., Gervasini, C., Giardina, E., Gurrieri, F., Nigro, C. L., Merla, G., Miozzo, M., Russo, S., Sangiorgi, E., Sirchia, S. M., Squeo, G. M., Tabano, S., Tabolacci, E., Torrente, I., Genuardi, M., Neri, G., Riccio, A.

مصطلحات موضوعية: Developmental delay/intellectual disability disorder, DNA methylation, Epi-signature, Genetic testing, Hereditary tumor, High-throughput analysi, Imprinting disorder, Neuromuscular disease, Prenatal diagnosis

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32224912; info:eu-repo/semantics/altIdentifier/wos/WOS:000537224600081; volume:11; issue:4; firstpage:355; numberofpages:30; journal:GENES; https://hdl.handle.net/11568/1041052Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85082574850; https://www.mdpi.com/2073-4425/11/4/355Test

الإتاحة: https://doi.org/10.3390/genes11040355Test
https://hdl.handle.net/11568/1041052Test
https://www.mdpi.com/2073-4425/11/4/355Test

المؤلفون: Grazioli P., Parodi C., Mariani M., Bottai D., Di Fede E., Zulueta A., Avagliano L., Cereda A., Tenconi R., Wierzba J., Adami R., Iascone M., Ajmone P. F., Vaccari T., Gervasini C., Selicorni A., Massa V.

المساهمون: P. Grazioli, C. Parodi, M. Mariani, D. Bottai, E. Di Fede, A. Zulueta, L. Avagliano, A. Cereda, R. Tenconi, J. Wierzba, R. Adami, M. Iascone, P.F. Ajmone, T. Vaccari, C. Gervasini, A. Selicorni, V. Massa

مصطلحات موضوعية: Cornelia de Lange Syndrome, Cohesin complex, Lithium, WNT pathway, Settore BIO/13 - Biologia Applicata, Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33597506; info:eu-repo/semantics/altIdentifier/wos/WOS:000621031300001; volume:7; issue:1; firstpage:1; lastpage:11; numberofpages:11; journal:CELL DEATH DISCOVERY; http://hdl.handle.net/2434/818995Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85101055422

الإتاحة: https://doi.org/10.1038/s41420-021-00414-2Test
http://hdl.handle.net/2434/818995Test

المؤلفون: Ottaviano E., Parodi C., Borghi E., Massa V., Gervasini C., Centanni S., Zuccotti G., Bianchi S.

المساهمون: E. Ottaviano, C. Parodi, E. Borghi, V. Massa, C. Gervasini, S. Centanni, G. Zuccotti, S. Bianchi

مصطلحات موضوعية: Control measure, COVID-19, Saliva sample, SARS-COV-2, Surveillance, Adult, Aged, COVID-19 Nucleic Acid Testing, Contact Tracing, Disease Outbreak, Epidemiological Monitoring, Female, Human, Italy, Male, Middle Aged, Saliva, Settore MED/07 - Microbiologia e Microbiologia Clinica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34325754; info:eu-repo/semantics/altIdentifier/wos/WOS:000681639600001; volume:149; firstpage:1; lastpage:3; numberofpages:3; journal:EPIDEMIOLOGY AND INFECTION; http://hdl.handle.net/2434/875386Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85111728861

الإتاحة: https://doi.org/10.1017/S0950268821001473Test
http://hdl.handle.net/2434/875386Test

المؤلفون: Di Fede E., Peron A., Colombo E. A., Gervasini C., Vignoli A.

المساهمون: E. Di Fede, A. Peron, E.A. Colombo, C. Gervasini, A. Vignoli

مصطلحات موضوعية: variant, Settore MED/03 - Genetica Medica, Settore MED/39 - Neuropsichiatria Infantile

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33821533; info:eu-repo/semantics/altIdentifier/wos/WOS:000636856100001; volume:185; issue:7; firstpage:2238; lastpage:2240; numberofpages:3; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/2434/837285Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85103586468

الإتاحة: https://doi.org/10.1002/ajmg.a.62203Test
http://hdl.handle.net/2434/837285Test