المؤلفون: Di Stazio, Mariateresa, Zanus, Caterina, Faletra, Flavio, Pesaresi, Alessia, Ziccardi, Ilaria, Morgan, Anna, Girotto, Giorgia, Costa, Paola, Carrozzi, Marco, d’Adamo, Adamo P., Musante, Luciana

المساهمون: Di Stazio, Mariateresa, Zanus, Caterina, Faletra, Flavio, Pesaresi, Alessia, Ziccardi, Ilaria, Morgan, Anna, Girotto, Giorgia, Costa, Paola, Carrozzi, Marco, D’Adamo, Adamo P., Musante, Luciana

مصطلحات موضوعية: WES, POBINDS, mRNA and protein instability, CK2beta haploinsufficiency, IDCS, KEN like-box, phenotypic continuum

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000944944900001; volume:14; issue:2; firstpage:"-"; lastpage:"-"; numberofpages:23; journal:GENES; https://hdl.handle.net/11368/3038020; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85148880034; https://www.mdpi.com/2073-4425/14/2/250

الاتاحة: https://hdl.handle.net/11368/3038020
https://doi.org/10.3390/genes14020250
https://www.mdpi.com/2073-4425/14/2/250

المؤلفون: Bianco, Anna Monica, Ragusa, Giulia, Di Carlo, Valentina, Faletra, Flavio, Di Stazio, Mariateresa, Racano, Costantina, Trisolino, Giovanni, Cappellani, Stefania, De Pellegrin, Maurizio, d’Addetta, Ignazio, Carluccio, Giuseppe, Monforte, Sergio, Andreacchio, Antonio, Dibello, Daniela, d’Adamo, Adamo P.

المساهمون: Bianco, Anna Monica, Ragusa, Giulia, Di Carlo, Valentina, Faletra, Flavio, Di Stazio, Mariateresa, Racano, Costantina, Trisolino, Giovanni, Cappellani, Stefania, De Pellegrin, Maurizio, D’Addetta, Ignazio, Carluccio, Giuseppe, Monforte, Sergio, Andreacchio, Antonio, Dibello, Daniela, D’Adamo, Adamo P.

مصطلحات موضوعية: Clubfoot, genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/36360195; info:eu-repo/semantics/altIdentifier/wos/WOS:000881229500001; volume:13; issue:11; firstpage:"-"; lastpage:"-"; numberofpages:8; journal:GENES; https://hdl.handle.net/11368/3033198; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85141641273; https://www.mdpi.com/2073-4425/13/11/1958

الاتاحة: https://hdl.handle.net/11368/3033198
https://doi.org/10.3390/genes13111958
https://www.mdpi.com/2073-4425/13/11/1958

المؤلفون: Di Stazio, Mariateresa, Bigoni, Stefania, Iuso, Nicola, Vuch, Josef, Selvatici, Rita, Ulivi, Sheila, d’Adamo, Pio Adamo

المساهمون: Di Stazio, Mariateresa, Bigoni, Stefania, Iuso, Nicola, Vuch, Josef, Selvatici, Rita, Ulivi, Sheila, D’Adamo, Pio Adamo

مصطلحات موضوعية: coffin, functional assay, intellectual disability, kinase assay, lowry syndrome, rsk2 gene

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/34439726; info:eu-repo/semantics/altIdentifier/wos/WOS:000688941200001; volume:11; issue:8; firstpage:-; lastpage:-; numberofpages:8; journal:BRAIN SCIENCES; http://hdl.handle.net/11368/2994212; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85114854539; https://www.mdpi.com/2076-3425/11/8/1105; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8394959/

الاتاحة: http://hdl.handle.net/11368/2994212
https://doi.org/10.3390/brainsci11081105
https://www.mdpi.com/2076-3425/11/8/1105
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8394959/

المؤلفون: Di Stazio, Mariateresa, Foschi, Nicola, Athanasakis, Emmanouil, Gasparini, Paolo, d’Adamo, Adamo Pio

المساهمون: Galli, Alvaro

المصدر: PLOS ONE ; volume 16, issue 3, page e0247603 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0247603
https://dx.plos.org/10.1371/journal.pone.0247603

المؤلفون: Girotto, Giorgia, Morgan, Anna, Krishnamoorthy, Navaneethakrishnan, Cocca, Massimiliano, Brumat, Marco, BASSANI, SISSY, La Bianca, Martina, Di Stazio, Mariateresa, Gasparini, Paolo

المساهمون: Girotto, Giorgia, Morgan, Anna, Krishnamoorthy, Navaneethakrishnan, Cocca, Massimiliano, Brumat, Marco, Bassani, Sissy, La Bianca, Martina, Di Stazio, Mariateresa, Gasparini, Paolo

مصطلحات موضوعية: CRISPR-Cas9, hearing lo, new gene discovery, next-generation sequencing, zebrafish model

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/30863428; info:eu-repo/semantics/altIdentifier/wos/WOS:000459736700001; volume:10; firstpage:"-"; lastpage:"-"; numberofpages:15; journal:FRONTIERS IN GENETICS; http://hdl.handle.net/11368/2940058; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85065838661; https://www.frontiersin.org/articles/10.3389/fgene.2019.00142/full

الاتاحة: http://hdl.handle.net/11368/2940058
https://doi.org/10.3389/fgene.2019.00142
https://www.frontiersin.org/articles/10.3389/fgene.2019.00142/full

المؤلفون: Morgan, Anna, Vuckovic, Dragana, Krishnamoorthy, Navaneethakrishnan, Rubinato, Elisa, Ambrosetti, Umberto, Castorina, Pierangela, Franzè, Annamaria, Vozzi, Diego, La Bianca, Martina, Cappellani, Stefania, Di Stazio, Mariateresa, Gasparini, Paolo, Girotto, Giorgia

المساهمون: Morgan, Anna, Vuckovic, Dragana, Krishnamoorthy, Navaneethakrishnan, Rubinato, Elisa, Ambrosetti, Umberto, Castorina, Pierangela, Franzè, Annamaria, Vozzi, Diego, La Bianca, Martina, Cappellani, Stefania, Di Stazio, Mariateresa, Gasparini, Paolo, Girotto, Giorgia

مصطلحات موضوعية: Hearing Lo, Next-generation Sequencing, SPATC1L

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/30177775; info:eu-repo/semantics/altIdentifier/wos/WOS:000454111500010; volume:27; issue:1; firstpage:70; lastpage:79; numberofpages:10; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11368/2928872; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85053341134; https://www.nature.com/articles/s41431-018-0229-9

الاتاحة: http://hdl.handle.net/11368/2928872
https://doi.org/10.1038/s41431-018-0229-9
https://www.nature.com/articles/s41431-018-0229-9

المؤلفون: Di Stazio, Mariateresa, Collesi, Chiara, Vozzi, Diego, Liu, Wei, Myers, Mike, Morgan, Anna, D′Adamo, Pio Adamo, Girotto, Giorgia, Rubinato, Elisa, Giacca, Mauro, Gasparini, Paolo

المصدر: European Journal of Human Genetics ; volume 27, issue 3, page 466-474 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/s41431-018-0282-4
http://www.nature.com/articles/s41431-018-0282-4.pdf
http://www.nature.com/articles/s41431-018-0282-4

المؤلفون: VUCKOVIC, DRAGANA, MORGAN, ANNA, DI STAZIO, MARIATERESA, VOZZI, Diego, GASPARINI, PAOLO, GIROTTO, GIORGIA, Dawson, Sally, Scheffer, Deborah I, Rantanen, Taina, Nutile, Teresa, CONCAS, MARIA PINA, Biino, Ginevra, Nolan, Lisa, Bahl, Aileen, Loukola, Anu, Viljanen, Anne, Davis, Adrian, Ciullo, Marina, Corey, David P, Pirastu, Mario

المساهمون: Vuckovic, Dragana, Dawson, Sally, Scheffer, Deborah I, Rantanen, Taina, Morgan, Anna, DI STAZIO, Mariateresa, Vozzi, Diego, Nutile, Teresa, Concas, MARIA PINA, Biino, Ginevra, Nolan, Lisa, Bahl, Aileen, Loukola, Anu, Viljanen, Anne, Davis, Adrian, Ciullo, Marina, Corey, David P, Pirastu, Mario, Gasparini, Paolo, Girotto, Giorgia

مصطلحات موضوعية: Genome-wide association studie, normal hearing function, PCDH20, SLC28A3

Relation: info:eu-repo/semantics/altIdentifier/pmid/26188009; info:eu-repo/semantics/altIdentifier/wos/WOS:000363018100023; volume:24; issue:19; firstpage:5655; lastpage:5664; numberofpages:10; journal:HUMAN MOLECULAR GENETICS; http://hdl.handle.net/11368/2845573; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84943762980

الاتاحة: http://hdl.handle.net/11368/2845573
https://doi.org/10.1093/hmg/ddv279

المؤلفون: GIROTTO, GIORGIA, MORGAN, ANNA, VOZZI, Diego, RUBINATO, ELISA, DI STAZIO, MARIATERESA, PENSIERO, STEFANO, GASPARINI, PAOLO, Scheffer, Déborah I., Muzzi, Enrico, Giersch, Anne B., Corey, David P.

المساهمون: Girotto, Giorgia, Scheffer, Déborah I., Morgan, Anna, Vozzi, Diego, Rubinato, Elisa, DI STAZIO, Mariateresa, Muzzi, Enrico, Pensiero, Stefano, Giersch, Anne B., Corey, David P., Gasparini, Paolo

مصطلحات موضوعية: PSIP1/LEDGF, Deafne, WES

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000367039200001; volume:5; firstpage:1; lastpage:9; numberofpages:9; journal:SCIENTIFIC REPORTS; http://hdl.handle.net/11368/2861172; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84951756451; http://www.nature.com/srep/

الاتاحة: http://hdl.handle.net/11368/2861172
https://doi.org/10.1038/srep18568
http://www.nature.com/srep/

المؤلفون: Vuckovic, Dragana, Dawson, Sally, Scheffer, Deborah I., Rantanen, Taina, Morgan, Anna, Di Stazio, Mariateresa, Vozzi, Diego, Nutile, Teresa, Concas, Maria P., Biino, Ginevra, Nolan, Lisa, Bahl, Aileen, Loukola, Anu, Viljanen, Anne, Davis, Adrian, Ciullo, Marina, Corey, David P., Pirastu, Mario, Gasparini, Paolo, Girotto, Giorgia

المساهمون: Clinicum, Department of Public Health

مصطلحات موضوعية: COMMON DISEASES, MYOSIN-VIIA, LOCI, METAANALYSIS, MICE, VARIANTS, GENOTYPE, SUSCEPTIBILITY, TRANSPORTER-3, LOCALIZATION, Biomedicine

وصف الملف: application/pdf

Relation: Research activities have been carried out with funds from the Italian Ministry of Health (RF2010 to P.G.), RC2008 to P.G. and NIH DC02281 to D.P.C. Phenotyping and genotyping of the FITSA sample was supported by the Academy of Finland Center of Excellence in Complex Disease Genetics (grants 213506 and 129680), the Academy of Finland (grants 100499, 205585, 118555, 141054, 265240, 263278 and 264146 to J.K., grant 69818 to T.R., grants 251723 and 263729 to A.V.), Sigrid Juselius Foundation (to J.K.) and the Welcome Trust Sanger Institute, UK. For the B58C cohort, this work was funded under the following: the Haigh Fellowship in age-related deafness, Deafness Research UK (444:UEI:SD), Medical Research Council grant G0000934 and the Wellcome Trust grant 068545/Z/02. Genotyping for the B58C-WTCCC subset was funded by the Wellcome Trust grant 076113/B/04/Z. The B58C-T1DGC genotyping utilized resources provided by the Type 1 Diabetes Genetics Consortium, a collaborative clinical study sponsored by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institute of Allergy and Infectious Diseases (NIAID), National Human Genome Research Institute (NHGRI), National Institute of Child Health and Human Development (NICHD) and Juvenile Diabetes Research Foundation International (JDRF) and supported by U01 DK062418. B58C-T1DGC GWAS data were deposited by the Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research (CIMR), University of Cambridge, which is funded by Juvenile Diabetes Research Foundation International, the Wellcome Trust and the National Institute for Health Research Cambridge Biomedical Research Centre; the CIMR is in receipt of a Wellcome Trust Strategic Award (079895). The B58C-GABRIEL genotyping was supported by a contract from the European Commission Framework Programme 6 (018996) and grants from the French Ministry of Research.; Vuckovic , D , Dawson , S , Scheffer , D I , Rantanen , T , Morgan , A , Di Stazio , M , Vozzi , D , Nutile , T , Concas , M P , Biino , G , Nolan , L , Bahl , A , Loukola , A , Viljanen , A , Davis , A , Ciullo , M , Corey , D P , Pirastu , M , Gasparini , P & Girotto , G 2015 , ' Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss ' , Human Molecular Genetics , vol. 24 , no. 19 , pp. 5655-5664 . https://doi.org/10.1093/hmg/ddv279; ORCID: /0000-0003-0542-5967/work/28947740; http://hdl.handle.net/10138/225094; bcea85c0-5816-4b86-8a9e-67df11a6cf00; 84943762980; 000363018100023

الاتاحة: http://hdl.handle.net/10138/225094

المؤلفون: Savoia, Anna, Pastore, Annalisa., De Rocco, Daniela, Civaschi, Elisa, Di Stazio, Mariateresa, Bottega, Roberta., Melazzini, Federica, Bozzi, Valeria, Pecci, Alessandro, Magrin, Silvana, Balduini, Carlo L., Noris, Patrizia

المساهمون: Savoia, Anna, Pastore, Annalisa., De Rocco, Daniela, Civaschi, Elisa, Di Stazio, Mariateresa, Bottega, Roberta., Melazzini, Federica, Bozzi, Valeria, Pecci, Alessandro, Magrin, Silvana, Balduini, Carlo L., Noris, Patrizia

مصطلحات موضوعية: Bernard-Soulier syndrome, macrothrombocytopenia, GP1BA, GP1BB and GP9 mutations, Settore BIO/09 - Fisiologia, Settore BIO/12 - Biochimica Clinica e Biologia Molecolare Clinica

Relation: info:eu-repo/semantics/altIdentifier/pmid/21173099; info:eu-repo/semantics/altIdentifier/wos/WOS:000288767000012; volume:96; issue:3; firstpage:417; lastpage:423; numberofpages:7; journal:HAEMATOLOGICA; https://hdl.handle.net/11384/77073; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79952346183

الاتاحة: https://hdl.handle.net/11384/77073
https://doi.org/10.3324/haematol.2010.032631

المؤلفون: Pippucci, Tommaso, Savoia, Anna, Perrotta, Silverio, Pujol-Moix, Núria, Noris, Patrizia, Castegnaro, Giovanni, Pecci, Alessandro, Gnan, Chiara, Punzo, Francesca, Marconi, Caterina, Gherardi, Samuele, Loffredo, Giuseppe, De Rocco, Daniela, Scianguetta, Saverio, Barozzi, Serena, Magini, Pamela, Bozzi, Valeria, Dezzani, Luca, Di Stazio, Mariateresa, Ferraro, Marcella, Perini, Giovanni, Seri, Marco, Balduini, Carlo L.

المصدر: The American Journal of Human Genetics ; volume 88, issue 1, page 115-120 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2010.12.006
https://api.elsevier.com/content/article/PII:S0002929710006427?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929710006427?httpAccept=text/plain

المؤلفون: Martinelli, Marcella, Di Stazio, Mariateresa, Scapoli, Luca, Marchesini, Jlenia, Di Bari, Filomena, Pezzetti, Furio, Carinci, Francesco, Palmieri, Annalisa, Carinci, Paolo, Savoia, Anna

مصطلحات موضوعية: Letters to JMG

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/44/6/387; http://dx.doi.org/10.1136/jmg.2006.047837

الاتاحة: http://jmg.bmj.com/cgi/content/short/44/6/387
https://doi.org/10.1136/jmg.2006.047837

المؤلفون: Comar, Manola, Brumat, Marco, Concas, Maria Pina, Argentini, Giorgia, Bianco, Annamonica Rosaria, Bicego, Livia, Bottega, Roberta, Carli, Petra, Cassone, Andrea, Catamo, Eulalia, Cocca, Massimiliano, Del Pin, Massimo, Di Stazio, Mariateresa, Feresin, Agnese, La Bianca, Martina, Morassut, Sara, Morgan, Anna, Pelliccione, Giulia, Petix, Vincenzo, Ragusa, Giulia, Robino, Antonietta, Russian, Stefano, Spedicati, Beatrice, Suergiu, Sarah, Urriza, Marianela, Vascotto, Fulvia, Toscani, Paola, Girotto, Giorgia, Gasparini, Paolo

المصدر: SSRN Electronic Journal ; ISSN 1556-5068

الاتاحة: http://dx.doi.org/10.2139/ssrn.3592658

المؤلفون: Donaudy, Francesca, Snoeckx, Rik, Pfister, Markus, Zenner, Hans-Peter, Blin, Nikolaus, Di Stazio, Mariateresa, Ferrara, Antonella, Lanzara, Carmen, Ficarella, Romina, Declau, Frank, Pusch, Carsten M., Nürnberg, Peter, Melchionda, Salvatore, Zelante, Leopoldo, Ballana, Ester, Estivill, Xavier, Van Camp, Guy, Gasparini, Paolo, Savoia, Anna

المصدر: 0002-9297 ; The American journal of human genetics

وصف الملف: pdf

Relation: info:eu-repo/semantics/altIdentifier/isi/000220280800018

الاتاحة: https://hdl.handle.net/10067/463700151162165141
https://repository.uantwerpen.be/docman/irua/8039a4/5686.pdf

المؤلفون: Di Stazio, Mariateresa, Collesi, Chiara, Vozzi, Diego, Liu, Wei, Myers, Mike, Morgan, Anna, D' Adamo, Pio Adamo, Girotto, Giorgia, Rubinato, Elisa, Giacca, Mauro, Gasparini, Paolo

مصطلحات الفهرس: Medical Genetics, Medicinsk genetik, Article in journal, info:eu-repo/semantics/article, text

URL: http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-378630
European Journal of Human Genetics, 1018-4813, 2019, 27:3, s. 466-474

المؤلفون: Callea, Michele, Willoughby, Colin Eric, Camarata-Scalisi, Francisco, Giovannoni, Isabella, Vinciguerra, Agatino, Yavuz, Izzet, Di Stazio, Mariateresa, Di Iorio, Enzo, Clarich, Gabriella, Benettoni, Alessandra, Galeotti, Angela, Bellacchio, Emanuele

المصدر: Investigación Clínica, Volume: 58, Issue: 1, Pages: 070-078, Published: MAR 2017

مصطلحات موضوعية: musculoskeletal diseases, Marfan syndrome, síndrome de Marfan, phenotype, c.3037G>A, FBN1, manifestaciones oculares

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______621::147ed89c32ec717d91fcf74447e5f06a
http://www.scielo.org.ve/scielo.php?script=sci_arttext&pid=S0535-51332017000100007&lng=en&tlng=en

المؤلفون: Callea, Michele, Willoughby, Cohn Eric, Camarata-Scalise, Francisco, Giovannoni, Isabelle, Vinciguerra, Agatino, Yavuz, Izzet, Di Stazio, Mariateresa, Di Iorio, Enzo, Clarich, Gabriella, Benettoni, Alessandra, Galeotti, Angela, Bellacchio, Emanuele

المصدر: INVESTIGACION CLINICA

مصطلحات موضوعية: Marfan syndrome, phenotype, c.3037G > A, FBN1

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::411a8c16f96c2c4b304a544078eee5e4
http://hdl.handle.net/11577/3279523

المؤلفون: Callea, M, Nieminen, P, Willoughby, Ce, Clarich, G, Yavuz, I, Vinciguerra, A, Giglio, S, Sani, I, Tadini, G, Bellacchio, E., DI STAZIO, MARIATERESA, MAGLIONE, MICHELE, PENSIERO, STEFANO

المساهمون: Callea, M, Nieminen, P, Willoughby, Ce, Clarich, G, Yavuz, I, Vinciguerra, A, DI STAZIO, Mariateresa, Giglio, S, Sani, I, Maglione, Michele, Pensiero, Stefano, Tadini, G, Bellacchio, E.

مصطلحات موضوعية: EDA, XL-HED

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000336496800018; volume:sep 2014; issue:30; firstpage:1; lastpage:3; numberofpages:3; journal:JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY; http://hdl.handle.net/11368/2832497; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84956690676

الاتاحة: http://hdl.handle.net/11368/2832497
https://doi.org/10.1111/jdv.12747

المؤلفون: MARTINELLI M, ARLOTTI M, PALMIERI A, SCAPOLI L, SAVOIA, ANNA, DI STAZIO, MARIATERESA, PEZZETTI F, MASIERO E, CARINCI F.

المساهمون: Martinelli, M, Arlotti, M, Palmieri, A, Scapoli, L, Savoia, Anna, DI STAZIO, Mariateresa, Pezzetti, F, Masiero, E, Carinci, F.

مصطلحات موضوعية: Palatoschisi

Relation: info:eu-repo/semantics/altIdentifier/pmid/18471249; info:eu-repo/semantics/altIdentifier/wos/WOS:000255702900014; volume:116; issue:3; firstpage:287; lastpage:290; numberofpages:4; journal:EUROPEAN JOURNAL OF ORAL SCIENCES; http://hdl.handle.net/11562/1064434; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-43449099445

الاتاحة: http://hdl.handle.net/11562/1064434
https://doi.org/10.1111/j.1600-0722.2008.00534.x