المؤلفون: Dattilo, Vincenzo, Ulivi, Sheila, Minelli, Alessandra, La Bianca, Martina, Giacopuzzi, Edoardo, Bortolomasi, Marco, Bignotti, Stefano, Gennarelli, Massimo, Gasparini, Paolo, Concas, Maria Pina

المساهمون: Dattilo, Vincenzo, Ulivi, Sheila, Minelli, Alessandra, La Bianca, Martina, Giacopuzzi, Edoardo, Bortolomasi, Marco, Bignotti, Stefano, Gennarelli, Massimo, Gasparini, Paolo, Concas, Maria Pina

مصطلحات موضوعية: CTNNA2, KCNQ5, Major depressive disorder, genetic isolate, genome-wide association study

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35615967; info:eu-repo/semantics/altIdentifier/wos/WOS:000813644600001; volume:24; issue:2; firstpage:135; lastpage:148; numberofpages:14; journal:THE WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY; https://hdl.handle.net/11368/3025993Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85132326623

الإتاحة: https://doi.org/10.1080/15622975.2022.2082523Test
https://hdl.handle.net/11368/3025993Test

المؤلفون: Liu, Dongjing, Meyer, Dara, Fennessy, Brian, Feng, Claudia, Cheng, Esther, Johnson, Jessica, Park, You Jeong, Rieder, Marysia-Kolbe, Ascolillo, Steven, de Pins, Agathe, Dobbyn, Amanda, Lebovitch, Dannielle, Moya, Emily, Nguyen, Tan-Hoang, Wilkins, Lillian, Hassan, Arsalan, Aghanwa, Henry, Burdick, Katherine E., Buxbaum, Joseph D., Domenici, Enrico, Frangou, Sophia, Hartmann, Annette M., Laurent-Levinson, Claudine, Malhotra, Dheeraj, Pato, Carlos N., Pato, Michele T., Ressler, Kerry, Roussos, Panos, Rujescu, Dan, Arango, Celso, Bertolino, Alessandro, Blasi, Giuseppe, Bocchio-Chiavetto, Luisella, Campion, Dominique, Carr, Vaughan, Fullerton, Janice M., Gennarelli, Massimo, Gonzalez-Penas, Javier, Levinson, Douglas F., Mowry, Bryan, Nimgaokar, Vishwajit L., Pergola, Giulio, Rampino, Antonio, Cervilla, Jorge A., Rivera, Margarita, Schwab, Sibylle G., Wildenauer, Dieter B., Daly, Mark, Neale, Benjamin, Singh, Tarjinder, O'Donovan, Michael C., Owen, Michael J., Walters, James T., Ayub, Muhammad, Malhotra, Anil K., Lencz, Todd, Sullivan, Patrick F., Sklar, Pamela, Stahl, Eli A., Huckins, Laura M., Charney, Alexander W., Aghanwa, Henry S., Ansari, Moin, Asif, Aftab, Aslam, Rubina, Ayuso, Jose L., Bigdeli, Tim, Bignotti, Stefano, Bobes, Julio, Bradley, Bekh, Buckley, Peter, Cairns, Murray J., Catts, Stanley V., Chaudhry, Abdul Rashid, Cohen, David, Collins, Brett L., Consoli, Angele, Costas, Javier, Crespo-Facorro, Benedicto, Daskalakis, Nikolaos P., Davidson, Michael, Davis, Kenneth L., Dickerson, Faith, Dogar, Imtiaz A., Drapeau, Elodie, Fananas, Lourdes, Fanous, Ayman, Fatima, Warda, Fatjo, Mar, Filippich, Cheryl, Friedman, Joseph, Fullard, John F., Georgakopoulos, Penelope, Giannitelli, Marianna, Giegling, Ina, Green, Melissa J., Guillin, Olivier, Gutierrez, Blanca, Handoko, Herlina Y., Hansen, Stella Kim, Haroon, Maryam, Haroutunian, Vahram, Henskens, Frans A., Hussain, Fahad, Jablensky, Assen V., Junejo, Jamil, Kelly, Brian J., Khan, Shams-Ud-Din A., Khan, Muhammad N. S., Khan, Anisuzzaman, Khawaja, Hamid R., Khizar, Bakht, Kleopoulos, Steven P., Knowles, James, Konte, Bettina, Kusumawardhani, Agung A. A. A., Leghari, Naeemullah, Liu, Xudong, Lori, Adriana, Loughland, Carmel M., Mahmood, Khalid, Mahmood, Saqib, Malaspina, Dolores, Malik, Danish, McNaughton, Amy, Michie, Patricia T., Michopolous, Vasiliki, Molina, Esther, Molto, Maria D., Munir, Asim, Muntane, Gerard, Naeem, Farooq, Nancarrow, Derek J., Nasar, Amina, Nasr, Tanvir, Ohaeri, Jude U., Ott, Jurg, Pantelis, Christos, Periyasamy, Sathish, Pinto, Ana G., Powers, Abigail, Ramos, Belen, Rana, Nusrat H., Rapaport, Mark, Reichenberg, Abraham, Saker-Delye, Safaa, Schall, Ulrich, Schofield, Peter R., Scott, Rodney J., Shanahan, Megan, Weickert, Cynthia Shannon, Sjaarda, Calvin, Smith, Heather J., Suarez-Rama, Jose Javier, Tariq, Muhammad, Thibaut, Florence, Tooney, Paul A., Umar, Muhammad, Vilella, Elisabet, Weiser, Mark, Wu, Jin Qin, Yolken, Robert

المساهمون: Institute for Molecular Medicine Finland

مصطلحات موضوعية: Genome-wide association, Of-function variants, Mutations, Metaanalysis, Burden, Individuals, Ancestry, Disorder, African, Setd1a, 1184 Genetics, developmental biology, physiology

وصف الملف: application/pdf

العلاقة: Liu , D , Meyer , D , Fennessy , B , Feng , C , Cheng , E , Johnson , J , Park , Y J , Rieder , M-K , Ascolillo , S , de Pins , A , Dobbyn , A , Lebovitch , D , Moya , E , Nguyen , T-H , Wilkins , L , Hassan , A , Aghanwa , H , Burdick , K E , Buxbaum , J D , Domenici , E , Frangou , S , Hartmann , A M , Laurent-Levinson , C , Malhotra , D , Pato , C N , Pato , M T , Ressler , K , Roussos , P , Rujescu , D , Arango , C , Bertolino , A , Blasi , G , Bocchio-Chiavetto , L , Campion , D , Carr , V , Fullerton , J M , Gennarelli , M , Gonzalez-Penas , J , Levinson , D F , Mowry , B , Nimgaokar , V L , Pergola , G , Rampino , A , Cervilla , J A , Rivera , M , Schwab , S G , Wildenauer , D B , Daly , M , Neale , B , Singh , T , O'Donovan , M C , Owen , M J , Walters , J T , Ayub , M , Malhotra , A K , Lencz , T , Sullivan , P F , Sklar , P , Stahl , E A , Huckins , L M , Charney , A W , Aghanwa , H S , Ansari , M , Asif , A , Aslam , R , Ayuso , J L , Bigdeli , T , Bignotti , S , Bobes , J , Bradley , B , Buckley , P , Cairns , M J , Catts , S V , Chaudhry , A R , Cohen , D , Collins , B L , Consoli , A , Costas , J , Crespo-Facorro , B , Daskalakis , N P , Davidson , M , Davis , K L , Dickerson , F , Dogar , I A , Drapeau , E , Fananas , L , Fanous , A , Fatima , W , Fatjo , M , Filippich , C , Friedman , J , Fullard , J F , Georgakopoulos , P , Giannitelli , M , Giegling , I , Green , M J , Guillin , O , Gutierrez , B , Handoko , H Y , Hansen , S K , Haroon , M , Haroutunian , V , Henskens , F A , Hussain , F , Jablensky , A V , Junejo , J , Kelly , B J , Khan , S-U-D A , Khan , M N S , Khan , A , Khawaja , H R , Khizar , B , Kleopoulos , S P , Knowles , J , Konte , B , Kusumawardhani , A A A A , Leghari , N , Liu , X , Lori , A , Loughland , C M , Mahmood , K , Mahmood , S , Malaspina , D , Malik , D , McNaughton , A , Michie , P T , Michopolous , V , Molina , E , Molto , M D , Munir , A , Muntane , G , Naeem , F , Nancarrow , D J , Nasar , A , Nasr , T , Ohaeri , J U , Ott , J , Pantelis , C , Periyasamy , S , Pinto , A G , Powers , A , Ramos , B , Rana , N H , Rapaport , M , Reichenberg , A , Saker-Delye , S , Schall , U , Schofield , P R , Scott , R J , Shanahan , M , Weickert , C S , Sjaarda , C , Smith , H J , Suarez-Rama , J J , Tariq , M , Thibaut , F , Tooney , P A , Umar , M , Vilella , E , Weiser , M , Wu , J Q & Yolken , R 2023 , ' Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations ' , Nature Genetics , vol. 55 , no. 3 , pp. 369-+ . https://doi.org/10.1038/s41588-023-01305-1Test; 10c5c8b6-c641-4511-bc47-14cdf63cbe23; http://hdl.handle.net/10138/564219Test; 001021322000010

الإتاحة: http://hdl.handle.net/10138/564219Test

المؤلفون: Russo, Andrea, Boldini, Alessandro, Romano, Davide, Mazza, Giuseppina, Bignotti, Stefano, Morescalchi, Francesco, Semeraro, Francesco

المساهمون: Russo, Andrea, Boldini, Alessandro, Romano, Davide, Mazza, Giuseppina, Bignotti, Stefano, Morescalchi, Francesco, Semeraro, Francesco

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35747583; info:eu-repo/semantics/altIdentifier/wos/WOS:000817192900001; volume:2022; numberofpages:20; journal:JOURNAL OF OPHTHALMOLOGY; https://hdl.handle.net/11379/569070Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85133359024

الإتاحة: https://doi.org/10.1155/2022/1004977Test
https://hdl.handle.net/11379/569070Test

المؤلفون: Mc Lean, Keri^1,2 (AUTHOR), Bignotti, Stefano³ (AUTHOR), Callea, Michele⁴ (AUTHOR) mcallea@gmail.com, Cammarata-Scalisi, Francisco⁵ (AUTHOR), Steger, Bernhard⁶ (AUTHOR), Armstrong, David⁷ (AUTHOR), Lagan, Maeve⁷ (AUTHOR), Sinton, Janet⁸ (AUTHOR), Semeraro, Francesco³ (AUTHOR), Kaye, Stephen B.^1,2 (AUTHOR), Romano, Vito^1,2,3 (AUTHOR), Willoughby, Colin E.^1,6,9 (AUTHOR)

المصدر: Ophthalmic Genetics. Feb2024, Vol. 45 Issue 1, p16-22. 7p.

مصطلحات موضوعية: *ECTODERMAL dysplasia, *MISSENSE mutation, *OCULAR manifestations of general diseases, *VISUAL acuity, *ASPARTIC acid, *SYNDROMES

مصطلحات جغرافية: UNITED Kingdom

المؤلفون: Romano, Vito, Bignotti, Stefano, Forbice, Eliana, Bianchetti, Andrea, Almici, Camillo, Semeraro, Francesco

المساهمون: Romano, Vito, Bignotti, Stefano, Forbice, Eliana, Bianchetti, Andrea, Almici, Camillo, Semeraro, Francesco

مصطلحات موضوعية: contact lens, fibrin glue, persistent epithelial defect, platelet-rich plasma, neurotrophic keratopathy

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36729664; info:eu-repo/semantics/altIdentifier/wos/WOS:000942244700017; volume:42; issue:4; firstpage:498; lastpage:506; numberofpages:9; journal:CORNEA; https://hdl.handle.net/11379/571283Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85149172613

الإتاحة: https://doi.org/10.1097/ICO.0000000000003204Test
https://hdl.handle.net/11379/571283Test

المؤلفون: Mc Lean, Keri, Bignotti, Stefano, Callea, Michele, Cammarata-Scalisi, Francisco, Steger, Bernhard, Armstrong, David, Lagan, Maeve, Sinton, Janet, Semeraro, Francesco, Kaye, Stephen B, Romano, Vito, Willoughby, Colin E

المساهمون: Mc Lean, Keri, Bignotti, Stefano, Callea, Michele, Cammarata-Scalisi, Francisco, Steger, Bernhard, Armstrong, David, Lagan, Maeve, Sinton, Janet, Semeraro, Francesco, Kaye, Stephen B, Romano, Vito, Willoughby, Colin E

مصطلحات موضوعية: GJB2, Keratitis-ichthyosis-deafness syndrome, ectodermal dysplasia, ocular manifestations

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37755702; info:eu-repo/semantics/altIdentifier/wos/WOS:001076484800001; firstpage:1; lastpage:7; numberofpages:7; journal:OPHTHALMIC GENETICS; https://hdl.handle.net/11379/585705Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85173092654

الإتاحة: https://doi.org/10.1080/13816810.2023.2258218Test
https://hdl.handle.net/11379/585705Test

المؤلفون: Romano, Vito, Bignotti, Stefano, Forbice, Eliana, Piccinelli, Giorgio, Caruso, Arnaldo, Semeraro, Francesco

المساهمون: Romano, Vito, Bignotti, Stefano, Forbice, Eliana, Piccinelli, Giorgio, Caruso, Arnaldo, Semeraro, Francesco

مصطلحات موضوعية: Bacterial keratiti, anti-infective agent, diseases of the ocular surface, infectious diseases affecting lid / conjunctiva, keratitis

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35791504; info:eu-repo/semantics/altIdentifier/wos/WOS:000824813600001; firstpage:11206721221112519; journal:EUROPEAN JOURNAL OPHTALMOLOGY; http://hdl.handle.net/11379/562601Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85133566224

الإتاحة: https://doi.org/10.1177/11206721221112519Test
http://hdl.handle.net/11379/562601Test

المؤلفون: Callea, Michele, Bignotti, Stefano, Semeraro, Francesco, Cammarata-Scalisi, Francisco, El-Feghaly, Jinia, Morabito, Antonino, Romano, Vito, Willoughby, Colin E

المساهمون: Callea, Michele, Bignotti, Stefano, Semeraro, Francesco, Cammarata-Scalisi, Francisco, El-Feghaly, Jinia, Morabito, Antonino, Romano, Vito, Willoughby, Colin E

مصطلحات موضوعية: dry eye, ectodermal dysplasia, ectodysplasin-A, hypohidrotic ectodermal dysplasia, meibomian gland, ocular surface disease

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36138666; info:eu-repo/semantics/altIdentifier/wos/WOS:000856293400001; volume:9; issue:9; firstpage:1357; numberofpages:10; journal:CHILDREN; https://hdl.handle.net/11379/571287Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85138558821

الإتاحة: https://doi.org/10.3390/children9091357Test
https://hdl.handle.net/11379/571287Test

المؤلفون: MINELLI, Alessandra, MAGRI, Chiara, BARBON, Alessandro, Bonvicini, Cristian, Segala, Matilde, CONGIU, Chiara, Bignotti, Stefano, MILANESI, Elena, Trabucchi, Luigi, CATTANE, Nadia, Bortolomasi, Marco, GENNARELLI, Massimo

المساهمون: Minelli, Alessandra, Magri, Chiara, Barbon, Alessandro, Bonvicini, Cristian, Segala, Matilde, Congiu, Chiara, Bignotti, Stefano, Milanesi, Elena, Trabucchi, Luigi, Cattane, Nadia, Bortolomasi, Marco, Gennarelli, Massimo

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26624926; info:eu-repo/semantics/altIdentifier/wos/WOS:000367666700002; volume:5; issue:e687; firstpage:1; lastpage:8; numberofpages:8; journal:TRANSLATIONAL PSYCHIATRY; http://hdl.handle.net/11379/462907Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84948762779; http://www.nature.com/tp/journal/v5/n12/full/tp2015180a.htmlTest

الإتاحة: https://doi.org/10.1038/tp.2015.180Test
http://hdl.handle.net/11379/462907Test
http://www.nature.com/tp/journal/v5/n12/full/tp2015180a.htmlTest

المؤلفون: CATTANE, Nadia, MINELLI, Alessandra, MILANESI, Elena, MAJ, Carlo, Bignotti, Stefano, Bortolomasi, Marco, Bocchio Chiavetto, Luisella, GENNARELLI, Massimo

المساهمون: Cattane, Nadia, Minelli, Alessandra, Milanesi, Elena, Maj, Carlo, Bignotti, Stefano, Bortolomasi, Marco, Bocchio Chiavetto, Luisella, Gennarelli, Massimo

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25658856; info:eu-repo/semantics/altIdentifier/wos/WOS:000349444900057; volume:10; issue:2; firstpage:e0116686; journal:PLOS ONE; http://hdl.handle.net/11379/458990Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84922680190

الإتاحة: https://doi.org/10.1371/journal.pone.0116686Test
http://hdl.handle.net/11379/458990Test