المؤلفون: Valli, Roberto, Penzo, Marianna

المساهمون: Valli, Roberto, Penzo, Marianna

مصطلحات موضوعية: ribosome biogenesis, rare disease, ribosomopathy, RPL10, shwachman diamond syndrome, diamond blackfan anaemia, X-linked dyskeratosis congenita, T-ALL leukemia

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37124624; info:eu-repo/semantics/altIdentifier/wos/WOS:000978836300001; volume:14; firstpage:1; lastpage:3; numberofpages:3; journal:FRONTIERS IN GENETICS; https://hdl.handle.net/11585/922393Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85153527791; https://www.frontiersin.org/articles/10.3389/fgene.2023.1194788/fullTest

الإتاحة: https://doi.org/10.3389/fgene.2023.1194788Test
https://hdl.handle.net/11585/922393Test

المؤلفون: Palandri, Giorgio, Carretta, Alessandro, La Corte, Emanuele, Giannini, Giulia, Martinoni, Matteo, Mantovani, Paolo, Albini-Riccioli, Luca, Tonon, Caterina, Mazzatenta, Diego, Elder, Benjamin D, Conti, Alfredo

المساهمون: Palandri, Giorgio, Carretta, Alessandro, La Corte, Emanuele, Giannini, Giulia, Martinoni, Matteo, Mantovani, Paolo, Albini-Riccioli, Luca, Tonon, Caterina, Mazzatenta, Diego, Elder, Benjamin D, Conti, Alfredo

مصطلحات موضوعية: Differential diagnosi, Idiopathic normal pressure hydrocephalus (iNPH), Late-onset idiopathic aqueductal stenosis (LIAS), Longstanding overt ventriculomegaly in adults (LOVA), Score, Adult, Cerebral Aqueduct, Cerebral Ventricle, Genetic Diseases, X-Linked, Human, Retrospective Studie, Hydrocephalu, Hydrocephalus, Normal Pressure

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35477816; info:eu-repo/semantics/altIdentifier/wos/WOS:000794947500001; volume:164; issue:7; firstpage:1777; lastpage:1788; numberofpages:12; journal:ACTA NEUROCHIRURGICA; https://hdl.handle.net/11585/897277Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85128829503; https://link.springer.com/article/10.1007/s00701-022-05215-9Test

الإتاحة: https://doi.org/10.1007/s00701-022-05215-9Test
https://hdl.handle.net/11585/897277Test

المؤلفون: Vaisfeld A., Taormina S., Simonati A., Neri G.

المساهمون: Vaisfeld A., Taormina S., Simonati A., Neri G.

مصطلحات موضوعية: ATR-X syndrome, ATRX, chromatin remodeler, neurodevelopment disorder, XLID, X-linked Nuclear Protein, Phenotype, DNA Helicase, Nuclear Proteins

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36292677; info:eu-repo/semantics/altIdentifier/wos/WOS:000872865700001; volume:13; issue:10; firstpage:1; lastpage:9; numberofpages:9; journal:GENES; https://hdl.handle.net/11585/904576Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85140634520; https://www.mdpi.com/2073-4425/13/10/1792Test

الإتاحة: https://doi.org/10.3390/genes13101792Test
https://hdl.handle.net/11585/904576Test
https://www.mdpi.com/2073-4425/13/10/1792Test

المؤلفون: Venturi G., Montanaro L.

المساهمون: Venturi G., Montanaro L.

مصطلحات موضوعية: 5q− syndrome, cancer, cartilage hair hypoplasia, Diamond Blackfan anemia, rare disease, ribosome biogenesi, Shwachman-Diamond syndrome, Treacher Collins syndrome, X-linked dyskeratosis congenita

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33076379; info:eu-repo/semantics/altIdentifier/wos/WOS:000584113400001; volume:9; issue:10; firstpage:1; lastpage:17; numberofpages:17; journal:CELLS; http://hdl.handle.net/11585/783127Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85093911310; https://www.mdpi.com/2073-4409/9/10/2300Test

الإتاحة: https://doi.org/10.3390/cells9102300Test
http://hdl.handle.net/11585/783127Test
https://www.mdpi.com/2073-4409/9/10/2300Test

المؤلفون: Emma F., Cappa M., Antoniazzi F., Bianchi M. L., Chiodini I., Eller Vainicher C., Di Iorgi N., Maghnie M., Cassio A., Balsamo A., Baronio F., De Sanctis L., Tessaris D., Baroncelli G. I., Mora S., Brandi M. L., Weber G., D'Ausilio A., Lanati E. P.

المساهمون: Emma F., Cappa M., Antoniazzi F., Bianchi M.L., Chiodini I., Eller Vainicher C., Di Iorgi N., Maghnie M., Cassio A., Balsamo A., Baronio F., De Sanctis L., Tessaris D., Baroncelli G.I., Mora S., Brandi M.L., Weber G., D'Ausilio A., Lanati E.P.

مصطلحات موضوعية: FGF23, Osteomalacia, Phosphate, Ricket, Vitamin D, Adolescent, Adult, Child, Preschool, Familial Hypophosphatemic Ricket, Female, Human, Infant, Newborn, Italy, Male, Practice Patterns, Physicians', Surveys and Questionnaire, Genetic Diseases, X-Linked

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31151476; info:eu-repo/semantics/altIdentifier/wos/WOS:000469833500001; volume:45; issue:1; firstpage:1; lastpage:7; numberofpages:7; journal:THE ITALIAN JOURNAL OF PEDIATRICS; http://hdl.handle.net/11585/726556Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85066482743; https://ijponline.biomedcentral.comTest/

الإتاحة: https://doi.org/10.1186/s13052-019-0654-6Test
http://hdl.handle.net/11585/726556Test
https://ijponline.biomedcentral.comTest/

المؤلفون: Marianna Penzo, Lorenzo Montanaro

المساهمون: Marianna Penzo, Lorenzo Montanaro

مصطلحات موضوعية: Cancer, Internal ribosome entry site-mediated translation, MRNA translation, Pseudouridylation, Ribosome biogenesi, Ribosome diversity, RRNA, Translational control, X-linked dyskeratosis congenita, Biochemistry, Molecular Biology

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29874862; info:eu-repo/semantics/altIdentifier/wos/WOS:000436489100025; volume:8; issue:2; firstpage:38; lastpage:47; numberofpages:10; journal:BIOMOLECULES; http://hdl.handle.net/11585/646845Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85049516279; http://www.mdpi.com/2218-273X/8/2/38/pdfTest

الإتاحة: https://doi.org/10.3390/biom8020038Test
http://hdl.handle.net/11585/646845Test
http://www.mdpi.com/2218-273X/8/2/38/pdfTest

المؤلفون: Pekmezci M., Rice T., Molinaro A. M., Walsh K. M., Decker P. A., Hansen H., Sicotte H., Kollmeyer T. M., McCoy L. S., Sarkar G., Perry A., Giannini C., Tihan T., Berger M. S., Wiemels J. L., Bracci P. M., Eckel-Passow J. E., Lachance D. H., Clarke J., Taylor J. W., Luks T., Wiencke J. K., Jenkins R. B., Wrensch M. R.

المساهمون: Pekmezci M., Rice T., Molinaro A.M., Walsh K.M., Decker P.A., Hansen H., Sicotte H., Kollmeyer T.M., McCoy L.S., Sarkar G., Perry A., Giannini C., Tihan T., Berger M.S., Wiemels J.L., Bracci P.M., Eckel-Passow J.E., Lachance D.H., Clarke J., Taylor J.W., Luks T., Wiencke J.K., Jenkins R.B., Wrensch M.R.

مصطلحات موضوعية: ATRX alteration, Brain tumor prognosi, Glioma classification, Telomere maintenance, TERT promoter mutation, Adolescent, Adult, Aged, 80 and over, Biomarkers, Tumor, Case-Control Studie, Central Nervous System Neoplasm, Female, Glioma, Human, Isocitrate Dehydrogenase, Kaplan-Meier Estimate, Male, Middle Aged, Mutation, Neoplasm Grading, Prognosi, Telomerase, World Health Organization, X-linked Nuclear Protein, Young Adult

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28255664; info:eu-repo/semantics/altIdentifier/wos/WOS:000401134000009; volume:133; issue:6; firstpage:1001; lastpage:1016; numberofpages:16; journal:ACTA NEUROPATHOLOGICA; http://hdl.handle.net/11585/721380Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85014091994; link.springer.de/link/service/journals/00401/index.htm

الإتاحة: https://doi.org/10.1007/s00401-017-1690-1Test
http://hdl.handle.net/11585/721380Test

المؤلفون: Hou, Meng-Meng, Polykretis, Panagis, Luchinat, Enrico, Wang, Xiao, Chen, Shen-Na, Zuo, Hui-Hui, Yang, Yin, Chen, Jia-Liang, Ye, Yansheng, Li, Conggang, Banci, Lucia, Su, Xun-Cheng

المساهمون: Hou, Meng-Meng, Polykretis, Panagi, Luchinat, Enrico, Wang, Xiao, Chen, Shen-Na, Zuo, Hui-Hui, Yang, Yin, Chen, Jia-Liang, Ye, Yansheng, Li, Conggang, Banci, Lucia, Su, Xun-Cheng

مصطلحات موضوعية: Multidisciplinary, XIAP, BIR, X-linked Inhibitor of Apoptosi, NMR, in-cell NMR, copper

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29192194; info:eu-repo/semantics/altIdentifier/wos/WOS:000416891400032; volume:7; firstpage:1; lastpage:11; numberofpages:11; journal:SCIENTIFIC REPORTS; http://hdl.handle.net/11585/856197Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85037029314; https://www.nature.com/articles/s41598-017-16723-5Test

الإتاحة: https://doi.org/10.1038/s41598-017-16723-5Test
http://hdl.handle.net/11585/856197Test
https://www.nature.com/articles/s41598-017-16723-5Test

المؤلفون: Passerini L., Barzaghi F., Curto R., Sartirana C., Barera G., Tucci F., Albarello L., Mariani A., Testoni P. A., Bazzigaluppi E., Bosi E., Lampasona V., Neth O., Zama D., Hoenig M., Schulz A., Seidel M. G., Rabbone I., Olek S., Roncarolo M. G., Cicalese M. P., Aiuti A., Bacchetta R.

المساهمون: Passerini L., Barzaghi F., Curto R., Sartirana C., Barera G., Tucci F., Albarello L., Mariani A., Testoni P.A., Bazzigaluppi E., Bosi E., Lampasona V., Neth O., Zama D., Hoenig M., Schulz A., Seidel M.G., Rabbone I., Olek S., Roncarolo M.G., Cicalese M.P., Aiuti A., Bacchetta R.

مصطلحات موضوعية: autoimmunity, Ebi3, FOXP3, GITR, IPEX, mTOR, rapamycin, regulatory T cell, suppression, Cell Movement, Cells, Cultured, Child, Diabetes Mellitus, Type 1, Diarrhea, Forkhead Transcription Factor, Gene Expression Regulation, Genetic Diseases, X-Linked, Glucocorticoid-Induced TNFR-Related Protein, Human, Immune System Disease, Immune Tolerance, Immunosuppressive Agent, Interleukin, Lymphocyte Activation, Male, Minor Histocompatibility Antigen, Mutation

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31874182; info:eu-repo/semantics/altIdentifier/wos/WOS:000523633400022; volume:145; issue:4; firstpage:1262; lastpage:1271; numberofpages:10; journal:JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY; http://hdl.handle.net/11585/850820Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85078840009

الإتاحة: https://doi.org/10.1016/j.jaci.2019.11.043Test
http://hdl.handle.net/11585/850820Test

المؤلفون: Lougaris V., Soresina A., Baronio M., Montin D., Martino S., Signa S., Volpi S., Zecca M., Marinoni M., Baselli L. A., Dellepiane R. M., Carrabba M., Fabio G., Putti M. C., Cinetto F., Lunardi C., Gazzurelli L., Benvenuto A., Bertolini P., Conti F., Consolini R., Ricci S., Azzari C., Leonardi L., Duse M., Pulvirenti F., Milito C., Quinti I., Cancrini C., Finocchi A., Moschese V., Cirillo E., Crescenzi L., Spadaro G., Marasco C., Vacca A., Cardinale F., Martire B., Trizzino A., Licciardello M., Cossu F., Di Matteo G., Badolato R., Ferrari S., Giliani S., Pession A., Ugazio A., Pignata C., Plebani A.

المساهمون: Lougaris V., Soresina A., Baronio M., Montin D., Martino S., Signa S., Volpi S., Zecca M., Marinoni M., Baselli L.A., Dellepiane R.M., Carrabba M., Fabio G., Putti M.C., Cinetto F., Lunardi C., Gazzurelli L., Benvenuto A., Bertolini P., Conti F., Consolini R., Ricci S., Azzari C., Leonardi L., Duse M., Pulvirenti F., Milito C., Quinti I., Cancrini C., Finocchi A., Moschese V., Cirillo E., Crescenzi L., Spadaro G., Marasco C., Vacca A., Cardinale F., Martire B., Trizzino A., Licciardello M., Cossu F., Di Matteo G., Badolato R., Ferrari S., Giliani S., Pession A., Ugazio A., Pignata C., Plebani A.

مصطلحات موضوعية: Bruton tyrosine kinase, chronic lung disease, X-linked agammaglobulinemia

وصف الملف: ELETTRONICO

العلاقة: volume:146; issue:2; firstpage:1; lastpage:9; numberofpages:9; journal:JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY; https://hdl.handle.net/11585/950741Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85082707318; https://www-sciencedirect-com.ezproxy.unibo.it/science/article/pii/S0091674920303304?via=ihubTest

الإتاحة: https://doi.org/10.1016/j.jaci.2020.03.001Test
https://hdl.handle.net/11585/950741Test
https://www-sciencedirect-com.ezproxy.unibo.it/science/article/pii/S0091674920303304?via=ihubTest