نتائج البحث - "De Brasi D."

1

دورية أكاديمية

Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association

المؤلفون: Cesana, M., Vaccaro, L., Larsen, M. J., Kibæk, M., Micale, L., Riccardo, S., Annunziata, P., Colantuono, C., Di Filippo, L., De Brasi, D., Castori, M., Fagerberg, C., Acquaviva, F., Cacchiarelli, D.

المصدر: Cesana , M , Vaccaro , L , Larsen , M J , Kibæk , M , Micale , L , Riccardo , S , Annunziata , P , Colantuono , C , Di Filippo , L , De Brasi , D , Castori , M , Fagerberg , C , Acquaviva , F & Cacchiarelli , D 2023 , ' Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association ' , Human Genetics , vol. 142 , no. 3 , pp. 343-350 . https://doi.org/10.1007/s00439-022-02497-yTest

مصطلحات موضوعية: Autism Spectrum Disorder/genetics, Exome, Frameshift Mutation, Gene Expression Profiling, Humans, Intracellular Signaling Peptides and Proteins/genetics, Neurodevelopmental Disorders/genetics, Protein Serine-Threonine Kinases/genetics

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/294b9ca5-2498-40b0-8b0f-53e22aee8a20Test

الإتاحة: https://doi.org/10.1007/s00439-022-02497-yTest
https://portal.findresearcher.sdu.dk/da/publications/294b9ca5-2498-40b0-8b0f-53e22aee8a20Test
https://findresearcher.sdu.dk/ws/files/220296652/s00439_022_02497_y.pdfTest

View record in BASE

2

دورية أكاديمية

Giant bezoar causing recurrent abdominal pain in a young girl with autism spectrum disorder

المؤلفون: Quitadamo P., Ranucci G., Ragozzino S., Tamasi S., Giugliano M., Gaglione G., De Brasi D., Mastrominico A., Di Nardo G.

المساهمون: Quitadamo, P., Ranucci, G., Ragozzino, S., Tamasi, S., Giugliano, M., Gaglione, G., De Brasi, D., Mastrominico, A., Di Nardo, G.

مصطلحات موضوعية: abdominal pain, autism spectrum disorder, bezoar, intussusception

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000821109500007; volume:80; journal:JOURNAL OF PEDIATRIC SURGERY CASE REPORTS; http://hdl.handle.net/11573/1634256Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85125901933

الإتاحة: https://doi.org/10.1016/j.epsc.2022.102241Test
http://hdl.handle.net/11573/1634256Test

View record in BASE

3

دورية أكاديمية

Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease-gene association

المؤلفون: Cesana, M, Vaccaro, L, Larsen, M J, Kibæk, M, Micale, L, Riccardo, S, Annunziata, P, Colantuono, C, Di Filippo, L, De Brasi, D, Castori, M, Fagerberg, C, Acquaviva, F, Cacchiarelli, D

المساهمون: Cesana, M, Vaccaro, L, Larsen, M J, Kibæk, M, Micale, L, Riccardo, S, Annunziata, P, Colantuono, C, Di Filippo, L, De Brasi, D, Castori, M, Fagerberg, C, Acquaviva, F, Cacchiarelli, D

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000893970800001; journal:HUMAN GENETICS; https://hdl.handle.net/11588/904586Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85143377573

الإتاحة: https://doi.org/10.1007/s00439-022-02497-yTest
https://hdl.handle.net/11588/904586Test

View record in BASE

4

دورية أكاديمية

Endocrine system involvement in patients with RASopathies: A case series

المؤلفون: Siano, M. A., Pivonello, R., Salerno, M., Falco, M., Mauro, C., De Brasi, D., Klain, A., Sestito, S., De Luca, A., Pinna, V., Simeoli, C., Concolino, D., Mainolfi, Ciro Gabriele, Mannarino, T., Strisciuglio, P., Tartaglia, M., Melis, D.

المصدر: Frontiers in Endocrinology ; volume 13 ; ISSN 1664-2392

الإتاحة: https://doi.org/10.3389/fendo.2022.1030398Test

View record in BASE

5

دورية أكاديمية

Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity

المؤلفون: Siano, M. A., Marchetti, V., Pagano, S., Di Candia, F., Alessio, M., De Brasi, D., De Luca, A., Pinna, V., Sestito, S., Concolino, D., Tartaglia, M., Strisciuglio, P., D’Esposito, V., Cabaro, S., Perruolo, G., Formisano, P., Melis, D.

المصدر: Orphanet Journal of Rare Diseases ; volume 16, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s13023-021-02050-6Test

View record in BASE

6

دورية أكاديمية

CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories

المساهمون: Amenta, S., Marangi, G., Orteschi, D., Frangella, S., Gurrieri, F., Paccagnella, E., Torella, A., Cappuccio, G., Musacchia, F., Mutarelli, M., Carrella, D., Vitiello, G., Parenti, G., Leuzzi, V., Selicorni, A., Maitz, S., Brunetti-Pierri, N., Banfi, S., Montomoli, M., Milani, D., Romano, C., Tummolo, A., De Brasi, D., Coppola, A., Santoro, C., Scala, M., Romano, F., Capra, V., Nigro, V., Zollino, M.

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36797464; info:eu-repo/semantics/altIdentifier/wos/WOS:000939855800002; volume:31; firstpage:648; lastpage:653; numberofpages:6; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11567/1119309Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85148354032

الإتاحة: https://doi.org/10.1038/s41431-023-01305-zTest
https://hdl.handle.net/11567/1119309Test

View record in BASE

7

دورية أكاديمية

Use of narrative medicine to identify key factors for effective doctor-patient relationships in severe asthma

المؤلفون: Cappuccio A., Napolitano S., Menzella F., Pellegrini G., Policreti A., Pelaia G., Porpiglia P. A., Marini M. G., Antonelli A., Arezzo C., Baglioni S., Boni E., Bragantini A., Bruzzese D., Caldarelli V., Caminati M., Caminiti L., Carraro C., Ceccon M. A., Bianchi F. C., Cirisano A., Cogo R., Conte E., D'Auria E., Daniele S., De Brasi D., De Castro G., De Luca S., Detoraki C., Di Palmo E., Fenu G., Ferrara A., Ferrigno G., Fusi A., Gaccione A., Gandino M., Guarnieri G., Guerrieri A., Iacoacci C., Lacedonia D., Schiavo M. L., Longo R., Magazzu C., Marzo G., Mastroberardino M., Mattioli G. P., Monaco L., Montera C., Morelli M., Nicolini A., Omodeo P., Palmiero G., Pannofino A., Papa A., Patria F., Pini L., Polti S., Pontillo A., Poppa M., Poto S., Quercia O., Raie A., Ronzoni V., Rosati Y., Russo A., Salzillo A., Santoro M., Savoia F., Simonazzi A., Sposato B., Tourtchenko V., Tripodi S., Vatrella A., Veronelli E.

المساهمون: Cappuccio, A., Napolitano, S., Menzella, F., Pellegrini, G., Policreti, A., Pelaia, G., Porpiglia, P. A., Marini, M. G., Antonelli, A., Arezzo, C., Baglioni, S., Boni, E., Bragantini, A., Bruzzese, D., Caldarelli, V., Caminati, M., Caminiti, L., Carraro, C., Ceccon, M. A., Bianchi, F. C., Cirisano, A., Cogo, R., Conte, E., D'Auria, E., Daniele, S., De Brasi, D., De Castro, G., De Luca, S., Detoraki, C., Di Palmo, E., Fenu, G., Ferrara, A., Ferrigno, G., Fusi, A., Gaccione, A., Gandino, M., Guarnieri, G., Guerrieri, A., Iacoacci, C., Lacedonia, D., Schiavo, M. L., Longo, R., Magazzu, C., Marzo, G., Mastroberardino, M., Mattioli, G. P., Monaco, L., Montera, C., Morelli, M., Nicolini, A., Omodeo, P., Palmiero, G., Pannofino, A., Papa, A., Patria, F., Pini, L., Polti, S., Pontillo, A., Poppa, M., Poto, S., Quercia, O., Raie, A., Ronzoni, V., Rosati, Y., Russo, A., Salzillo, A., Santoro, M., Savoia, F., Simonazzi, A., Sposato, B., Tourtchenko, V., Tripodi, S., Vatrella, A., Veronelli, E.

مصطلحات موضوعية: Medical education and training, Narrative medicine, Qualitative research, Severe asthma

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31497295; info:eu-repo/semantics/altIdentifier/wos/WOS:000483790000001; issue:14; firstpage:26; journal:MULTIDISCIPLINARY RESPIRATORY MEDICINE; http://hdl.handle.net/11379/531737Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85071935276

الإتاحة: https://doi.org/10.1186/s40248-019-0190-7Test
http://hdl.handle.net/11379/531737Test

View record in BASE

8

Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry

المؤلفون: Limongelli G, Iucolano S, Monda E, Elefante P, De Stasio C, Lubrano I, Caiazza M, Mazzella M, Fimiani F, Galdo M, De Marchi G, Esposito M, Rubino M, Cirillo A, Fusco A, Esposito A, Trama U, Esposito S, Scarano G, Sepe J, Andria G, Orlando V, Menditto E, Chiodini P, Campania Rare Disease, Iolascon A, Franzese A, Sanduzzi Zamparelli A, Tessitore A, Romano A, Venosa A, Nunzia Olivieri A, Bianco A, La Manna A, Cerbone AM, Spasiano A, Agnese Stanziola A, Colao A, De Bellis A, Gambale A, Toriello A, Tufano A, Ciampa A, Maria Risitano A, Pisani A, Russo A, Volpe A, De Martino B, Amato B, De Fusco C, Piscopo C, Selleri C, Tucci C, Pignata C, Cioffi D, Melis D, Pasquali D, De Brasi D, Spitaleri D, Russo D, Martellotta D, De Michele E, Varricchio E, Miraglia Del Giudice E, Coscioni E, Cimino E, Pane F, Tranfa F, Pollio F, Lonardo F, Nuzzi F, Simonelli F, Trojsi F, Habetswallner F, Valentini G, Cerbone G, Parenti G, Tedeschi G, Capasso G, Battista Rossi G, Gaglione G, Sarnelli G, Argenziano G, Bellastella G, De Michele G, Fiorentino G, Spadaro G, Scala I, Santoro L, Zeppa L, Auricchio L, Elio Adinolfi L, Alessio M, Amitrano M, Savanelli MC, Russo MG, Ferrucci MG, Carbone MT, Pellecchia MT, Salerno M, Melone M, Del Donno M, Vitale M, Triggiani M, Della Monica M, Lo Presti M, Tenuta M, Mignogna MD, Schiavulli M, Zacchia M, Brunetti-Pierri N, Iovino P, Moscato P, Iandoli R, Scarpa R, Russo R, Troisi S, Sbordone S, Perrotta S, Fecarotta S, Sampaolo S, Cicalese V.

المساهمون: Limongelli, Giuseppe, Iucolano, Stefano, Monda, Emanuele, Elefante, Pasquale, De Stasio, Chiara, Lubrano, Imma, Caiazza, Martina, Mazzella, Marialuisa, Fimiani, Fabio, Galdo, Maria, De Marchi, Giulia, Esposito, Martina, Rubino, Marta, Cirillo, Annapaola, Fusco, Adelaide, Esposito, Augusto, Trama, Ugo, Esposito, Salvatore, Scarano, Gioacchino, Sepe, Joseph, Andria, Generoso, Orlando, Valentina, Menditto, Enrica, Chiodini, Paolo, Iolascon, Achille, Franzese, Adriana, Sanduzzi Zamparelli, Alessandro, Tessitore, Alessandro, Romano, Alfonso, Venosa, Alfredo, Nunzia Olivieri, Alma, Bianco, Andrea, La Manna, Angela, Cerbone, Anna Maria, Spasiano, Anna, Agnese Stanziola, Anna, Colao, Annamaria, De Bellis, Annamaria, Gambale, Antonella, Toriello, Antonella, Tufano, Antonella, Ciampa, Antonio, Maria Risitano, Antonio, Pisani, Antonio, Russo, Antonio, Volpe, Antonio, De Martino, Bernardo, Amato, Bruno, De Fusco, Carmela, Piscopo, Carmelo, Selleri, Carmine, Tucci, Celeste, Pignata, Claudio, Cioffi, Daniela, Melis, Daniela, Pasquali, Daniela, De Brasi, Daniele, Spitaleri, Daniele, De Brasi, Davide, Russo, Domenico, Martellotta, Donata, De Michele, Elisa, Varricchio, Elziario, Miraglia Del Giudice, Emanuele, Coscioni, Enrico, Cimino, Ernesto, Pane, Fabrizio, Tranfa, Fausto, Pollio, Filiberto, Lonardo, Fortunato, Nuzzi, Francesca, Simonelli, Francesca, Trojsi, Francesca, Habetswallner, Francesco, Valentini, Gabriele, Cerbone, Gaetana, Parenti, Giancarlo, Tedeschi, Gioacchino, Capasso, Giovambattista, Battista Rossi, Giovanni, Gaglione, Giovanni, Sarnelli, Giovanni, Argenziano, Giuseppe, Bellastella, Giuseppe, De Michele, Giuseppe, Fiorentino, Giuseppe, Spadaro, Giuseppe, Scala, Iri, Santoro, Lucio, Zeppa, Lucio, Auricchio, Luigi, Elio Adinolfi, Luigi, Alessio, Maria, Amitrano, Maria, Savanelli, Maria Cristina, Russo, Maria Giovanna, Ferrucci, Maria Grazia, Carbone, Maria Teresa, Pellecchia, Maria Teresa, Salerno, Mariacarolina, Melone, Marina, Del Donno, Mario, Vitale, Mario, Triggiani, Massimo, Della Monica, Matteo, Lo Presti, Maurizio, Tenuta, Maurizio, Mignogna, Michele Davide, Schiavulli, Michele, Zacchia, Miriam, Brunetti-Pierri, Nicola, Iovino, Paola, Moscato, Paolo, Iandoli, Raffaele, Scarpa, Raffaele, Russo, Romualdo, Troisi, Salvatore, Sbordone, Sandro, Perrotta, Silverio, Fecarotta, Simona, Sampaolo, Simone, Cicalese, Virgilio, Limongelli, G, Iucolano, S, Monda, E, Elefante, P, De Stasio, C, Lubrano, I, Caiazza, M, Mazzella, M, Fimiani, F, Galdo, M, De Marchi, G, Esposito, M, Rubino, M, Cirillo, A, Fusco, A, Esposito, A, Trama, U, Esposito, S, Scarano, G, Sepe, J, Andria, G, Orlando, V, Menditto, E, Chiodini, P, Campania Rare, Disease, Iolascon, A, Franzese, A, Sanduzzi Zamparelli, A, Tessitore, A, Romano, A, Venosa, A, Nunzia Olivieri, A, Bianco, A, La Manna, A, Cerbone, Am, Spasiano, A, Agnese Stanziola, A, Colao, A, De Bellis, A, Gambale, A, Toriello, A, Tufano, A, Ciampa, A, Maria Risitano, A, Pisani, A, Russo, A, Volpe, A, De Martino, B, Amato, B, De Fusco, C, Piscopo, C, Selleri, C, Tucci, C, Pignata, C, Cioffi, D, Melis, D, Pasquali, D, De Brasi, D, Spitaleri, D, Russo, D, Martellotta, D, De Michele, E, Varricchio, E, Miraglia Del Giudice, E, Coscioni, E, Cimino, E, Pane, F, Tranfa, F, Pollio, F, Lonardo, F, Nuzzi, F, Simonelli, F, Trojsi, F, Habetswallner, F, Valentini, G, Cerbone, G, Parenti, G, Tedeschi, G, Capasso, G, Battista Rossi, G, Gaglione, G, Sarnelli, G, Argenziano, G, Bellastella, G, De Michele, G, Fiorentino, G, Spadaro, G, Scala, I, Santoro, L, Zeppa, L, Auricchio, L, Elio Adinolfi, L, Alessio, M, Amitrano, M, Savanelli, Mc, Russo, Mg, Ferrucci, Mg, Carbone, Mt, Pellecchia, Mt, Salerno, M, Melone, M, Del Donno, M, Vitale, M, Triggiani, M, Della Monica, M, Lo Presti, M, Tenuta, M, Mignogna, Md, Schiavulli, M, Zacchia, M, Brunetti-Pierri, N, Iovino, P, Moscato, P, Iandoli, R, Scarpa, R, Russo, R, Troisi, S, Sbordone, S, Perrotta, S, Fecarotta, S, Sampaolo, S, Cicalese, V.

المصدر: Journal of Public Health (Oxford, England)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c2821a0f78a29e2e3dd1c380a076f81Test
https://doi.org/10.1093/pubmed/fdab137Test

9

CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories

مصطلحات موضوعية: CHAMP1, Settore MED/03 - GENETICA MEDICA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______2601::32364bf0f8a80bb58ce49860e040dadaTest
https://hdl.handle.net/10807/232272Test

10

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

المؤلفون: Scala, M., Nishikawa, M., Ito, H., Tabata, H., Khan, T., Accogli, A., Davids, L., Ruiz, A., Chiurazzi, Pietro, Cericola, G., Schulte, B., Monaghan, K. G., Begtrup, A., Torella, A., Pinelli, M., Denomme-Pichon, A. -S., Vitobello, A., Racine, C., Mancardi, M. M., Kiss, C., Guerin, A., Wu, W., Vila, E. G., Mak, B. C., Martinez-Agosto, J. A., Gorin, M. B., Duz, B., Bayram, Y., Carvalho, C. M. B., Vengoechea, J. E., Chitayat, D., Tan, T. Y., Callewaert, B., Kruse, B., Bird, L. M., Faivre, L., Zollino, Marcella, Biskup, S., Striano, P., Nigro, V., Severino, M., Capra, V., Costain, G., Nagata, K. -I., Brown, G., Butte, M. J., Dell'Angelica, E. C., Dorrani, N., Douine, E. D., Fogel, B. L., Gutierrez, I., Huang, A., Krakow, D., Lee, H., Loo, S. K., Martin, M. G., Mcgee, E., Nelson, S. F., Nieves-Rodriguez, S., Palmer, C. G. S., Papp, J. C., Parker, N. H., Renteria, G., Sinsheimer, J. S., Wan, J., Wang, L. -K., Perry, K. W., Brunetti-Pierri, N., Casari, G., Cappuccio, G., Musacchia, F., Mutarelli, M., Carrella, D., Vitiello, G., Parenti, G., Leuzzi, V., Selicorni, A., Maitz, S., Banfi, S., Montomoli, M., Milani, D., Romano, C., Tummolo, A., De Brasi, D., Coppola, A., Santoro, C., Peron, A., Pantaleoni, C., Castello, R., D'Arrigo, S.

المساهمون: Scala, Marcello, Nishikawa, Masashi, Ito, Hidenori, Tabata, Hidenori, Khan, Tayyaba, Accogli, Andrea, Davids, Laura, Ruiz, Anna, Chiurazzi, Pietro, Cericola, Gabriella, Schulte, Björn, Monaghan, Kristin G, Begtrup, Amber, Torella, Annalaura, Pinelli, Michele, Denommé-Pichon, Anne Sophie, Vitobello, Antonio, Racine, Caroline, Mancardi, Maria Margherita, Kiss, Courtney, Guerin, Andrea, Wu, Wendy, Gabau Vila, Elisabeth, Mak, Bryan C, Martinez-Agosto, Julian A, Gorin, Michael B, Duz, Bugrahan, Bayram, Yavuz, Carvalho, Claudia M B, Vengoechea, Jaime E, Chitayat, David, Tan, Tiong Yang, Callewaert, Bert, Kruse, Bernd, Bird, Lynne M, Faivre, Laurence, Zollino, Marcella, Biskup, Saskia, Striano, Pasquale, Nigro, Vincenzo, Severino, Mariasavina, Capra, Valeria, Costain, Gregory, Nagata, Koh Ichi, Nagata, Koh-Ichi

المصدر: Brain : a journal of neurology, vol 145, iss 9
BRAIN

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3083a328f38c58a75d1e27b4ff06949Test
https://escholarship.org/uc/item/6xw4z6x0Test

تنقيح النتائج