المؤلفون: Lorena, Travaglini, Francesco, Brancati, Jennifer, Silhavy, Miriam, Iannicelli, Elizabeth, Nickerson, Nadia, Elkhartoufi, Eric, Scott, Emily, Spencer, Stacey, Gabriel, Sophie, Thomas, Bruria, Ben Zeev, Enrico, Bertini, Eugen, Boltshauser, Malika, Chaouch, Maria, Roberta Cilio, Mirjam, M. de Jong, Hulya, Kayserili, Gonul, Ogur, Andrea, Poretti, Sabrina, Signorini, Graziella, Uziel, Maha, S. Zaki, Ali Pacha L, Zankl A, Leventer R, Grattan Smith P, Janecke A, Koch J, Freilinger M, D'Hooghe M, Sznajer Y, Vilain C, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Ae Kim C, Maegawa G, Dakovic I, Loncarevic D, Mejaski Bosnjak V, Petkovic D, Abdel Salam GM, Abdel Aleem A, Marti I, Pinard JM, Quijano Roy S, Sigaudy S, de Lonlay P, Romano S, Verloes A, Touraine R, Koenig M, Dollfus H, Flori E, Fradin M, Lagier Tourenne C, Messer J, Collignon P, Penzien JM, Bussmann C, Merkenschlager A, Philippi H, Kurlemann G, Grundmann K, Dacou Voutetakis C, Kitsiou Tzeli S, Pons R, Jerney J, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Girisha KM, Doshi H, Udani V, Kaul M, Stuart B, Magee A, Spiegel R, Shalev S, Mandel H, Lev D, Michelson M, Idit M, Ben Zeev B, Gershoni Baruch R, Ficcadenti A, Fischetto R, Gentile M, Della Monica M, Pezzani M, Graziano C, Seri M, Benedicenti F, Stanzial F, Borgatti R, Romaniello R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Barone R, Sorge G, Briatore E, Bigoni S, Ferlini A, Donati MA, Biancheri R, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Mirabelli M, Pessagno A, Rossi A, Uliana V, Amorini M, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Bonati MT, Castorina P, D'Arrigo S, Lalatta F, Marra G, Moroni I, Pantaleoni C, Riva D, Scelsa B, Spaccini L, Del Giudice E, Ludwig K, Permunian A, Suppiej A, Macaluso C, Pichiecchio A, Battini R, Di Giacomo M, Priolo M, Timpani P, Pagani G, Di Sabato ML, Emma F, Leuzzi V, Mancini F, Majore S, Micalizzi A, Parisi P, Romani M, Stringini G, Zanni G, Ulgheri L, Pollazzon, M, RENIERI, ALESSANDRA, Belligni E, Grosso E, Pieri I, Silengo M, Devescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, Said E, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Salih MA, Tabarki B, Jocic Jakubi B, Martorell Sampol L, Rodriguez B, Pascual Castroviejo I, Gener B, Puschmann A, Starck L, Capone A, Lemke J, Fluss J, Niedrist D, Hennekam RC, Wolf N, Gouider Khouja N, Kraoua I, Ceylaner S, Teber S, Akgul M, Anlar B, Comu S, Kayserili H, Yüksel A, Akcakus M, Caglayan AO, Aldemir O, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hemingway C, Lees M, Wakeling E, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Karaca E, Swoboda KJ, Viskochil D, Dobyns WB, Colin, Johnson, Tania, Attié Bitach, Joseph, G. Gleeson, Enza, Maria Valente

المساهمون: Lorena, Travaglini, Francesco, Brancati, Jennifer, Silhavy, Miriam, Iannicelli, Elizabeth, Nickerson, Nadia, Elkhartoufi, Eric, Scott, Emily, Spencer, Stacey, Gabriel, Sophie, Thoma, Bruria, Ben Zeev, Enrico, Bertini, Eugen, Boltshauser, Malika, Chaouch, Maria, Roberta Cilio, Mirjam, M. de Jong, Hulya, Kayserili, Gonul, Ogur, Andrea, Poretti, Sabrina, Signorini, Graziella, Uziel, Maha, S. Zaki, Ali Pacha, L, Zankl, A, Leventer, R, Grattan Smith, P, Janecke, A, Koch, J, Freilinger, M, D'Hooghe, M, Sznajer, Y, Vilain, C, Van Coster, R, Demerleir, L, Dias, K, Moco, C, Moreira, A, Ae Kim, C, Maegawa, G, Dakovic, I, Loncarevic, D, Mejaski Bosnjak, V, Petkovic, D, Abdel Salam, Gm, Abdel Aleem, A, Marti, I, Pinard, Jm, Quijano Roy, S, Sigaudy, S, de Lonlay, P, Romano, S, Verloes, A, Touraine, R, Koenig, M, Dollfus, H, Flori, E, Fradin, M, Lagier Tourenne, C, Messer, J, Collignon, P, Penzien, Jm, Bussmann, C, Merkenschlager, A, Philippi, H, Kurlemann, G, Grundmann, K, Dacou Voutetakis, C, Kitsiou Tzeli, S, Pons, R, Jerney, J, Halldorsson, S, Johannsdottir, J, Ludvigsson, P, Phadke, Sr, Girisha, Km, Doshi, H, Udani, V, Kaul, M, Stuart, B, Magee, A, Spiegel, R, Shalev, S, Mandel, H, Lev, D, Michelson, M, Idit, M, Ben Zeev, B, Gershoni Baruch, R, Ficcadenti, A, Fischetto, R, Gentile, M, Della Monica, M, Pezzani, M, Graziano, C, Seri, M, Benedicenti, F, Stanzial, F, Borgatti, R, Romaniello, R, Accorsi, P

مصطلحات موضوعية: Ciliopathies, INPP5E, Joubert syndrome and related disorders, Meckel syndrome

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23386033; info:eu-repo/semantics/altIdentifier/wos/WOS:000324727200014; ispartofbook:European Journal of Human Genetics; volume:21; issue:10; firstpage:1074; lastpage:1078; numberofpages:5; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11365/960289Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84884592278

الإتاحة: https://doi.org/10.1038/ejhg.2012.305Test
http://hdl.handle.net/11365/960289Test

المؤلفون: S. Kitsiou Tzeli, Hülya Kayserili, L. Giordano, B. Rodriguez, P. Collignon, V. Sabolic Avramovska, Silvana Briuglia, Christopher A. Walsh, Laila Bastaki, Amy Goldstein, Francesca Faravelli, F. Papadia, A. Permunian, Alessandro Simonati, S. Halldorsson, Gian Marco Ghiggeri, David G. Brooks, Clara Barbot, Kathryn J. Swoboda, Chiara Pantaleoni, O. D'Addato, Jason W. Caldwell, Maria Roberta Cilio, Soumaya Mougou-Zerelli, M. Vascotto, Andreas Zankl, Gaetano Tortorella, Julia Tantau, Elliott H. Sherr, Patrizia Accorsi, Maurizio Genuardi, Carmelo Salpietro, G. Marra, Pierangela Castorina, Petter Strømme, J. Johannsdottir, Bruno Dallapiccola, Kenton R. Holden, Donatella Greco, Maria Spanò, Pasquale Parisi, Roberta Battini, Paola Grammatico, P. Ludvigsson, Dorit Lev, Daria Riva, C. Ae Kim, WB Dobyns, L. Martorell Sampol, Robert P. Cruse, H. Raynes, Sabrina Signorini, A. Seward, Raoul C.M. Hennekam, Elena Andreucci, Manuela Priolo, Banu Anlar, Bernard Stuart, Christopher P. Bennett, S. Comu, Christopher Geoffrey Woods, Vlatka Mejaški-Bošnjak, J. Milisa, Eamonn Sheridan, Melissa Lees, C. Moco, Ender Karaca, Miriam Iannicelli, Annalisa Mazzotta, C. Dacou-Voutetakis, Tania Attié-Bitach, Philippe Loget, D. Petkovic, L. Demerleir, Loredana Boccone, Meriem Tazir, Kalpathy S. Krishnamoorthy, Damir Lončarević, Dominika Swistun, Yves Sznajer, Stefano D'Arrigo, Ginevra Zanni, Angela Barnicoat, Marina Michelson, L. I. Al Gazali, Vincenzo Leuzzi, G. Uziel, A. Adami, B. Gener Querol, V. Udani, M. Di Giacomo, Maryse Bonnière, Enrico Bertini, K. Dias, Edward Blair, Johannes M. Penzien, M. Cazzagon, Susana Quijano-Roy, Trine Prescott, Barbara Scelsa, Giuseppina Vitiello, Francesco Brancati, Gilda Stringini, Trudy McKanna, Roser Pons, Renato Borgatti, M. Gentile, Dean Sarco, C. Von Der Lippe, Eugen Boltshauser, Luigina Spaccini, A. Pessagno, Alex Magee, Marilena Briguglio, Margherita Silengo, Lena Starck, M. L. Di Sabato, Roshan Koul, Nicole I. Wolf, A. M. Laverda, Elizabeth Flori, Clotilde Lagier-Tourenne, A. Matuleviciene, Matloob Azam, Kathrin Ludwig, Ghada M H Abdel-Salam, Atıl Yüksel, Johannes R. Lemke, Stefania Bigoni, Elizabeth Said, Anna Rajab, Mary Kay Koenig, Andreas R. Janecke, Asma A. Al-Tawari, Agnese Suppiej, Henry Sanchez, Wendy K. Chung, P. Guanciali, Heike Philippi, Silvia Majore, E. DeMarco, J. Hahn, Gianluca Caridi, Marc D'Hooghe, M. M. De Jong, M. Akcakus, Franco Stanzial, Silvia Battaglia, Gian Luigi Ardissino, Giangennaro Coppola, Jane A. Hurst, Terry D. Sanger, Alessandra Renieri, Nadia Elkhartoufi, Rita Fischetto, Alex E. Clark, S. Strozzi, S. Romano, Alain Verloes, Marzia Pollazzon, Elisa Fazzi, L. Yates, Faustina Lalatta, Sabine Sigaudy, Alessandra D'Amico, Brigitte Leroy, Joel Victor Fluss, David Viskochil, Alice Abdel-Aleem, Darryl C. De Vivo, Padraic Grattan-Smith, Corrado Romano, D. Nicholl, Regine Schubert, A. Moreira, Claudia Izzi, Barbara Gentilin, Gustavo Maegawa, Céline Gomes, László Sztriha, C. Donahue, Luciana Rigoli, Jean Messer, Sophie Thomas, E. Del Giudice, R. Van Coster, André Mégarbané, Ignacio Pascual-Castroviejo, Alessandra Ferlini, Topcu, R. Touraine, Ginevra Guanti, Lorena Travaglini, L. Ali Pacha, R. De Vescovi, Enza Maria Valente, Filippo Bernardi, L. Carr, Shubha R. Phadke, S. Bernes, Maria Teresa Divizia, C. Daugherty, M. Akgul, C. Macaluso, Maha S. Zaki, E. Finsecke, Itxaso Marti, Lorenzo Pinelli, F. McKay, Maria Amorini, Joseph G. Gleeson, F. Benedicenti, Bruria Ben-Zeev, Carla Uggetti, R. Romoli, Richard J. Leventer, Francesco Emma, T. E. Gallager, P. De Lonlay, Marco Seri, Bernard L. Maria, M.A. Donati, Bosanka Jocic-Jakubi

المساهمون: IANNICELLI M, BRANCATI F, MOUGOU-ZERELLI S, MAZZOTTA A, THOMAS S, ELKHARTOUFI N, TRAVAGLINI L, GOMES C, ARDISSINO GL, BERTINI E, BOLTSHAUSER E, CASTORINA P, D'ARRIGO S, FISCHETTO R, LEROY B, LOGET P, BONNIÈRE M, STARCK L, TANTAU J, GENTILIN B, MAJORE S, SWISTUN D, FLORI E, LALATTA F, PANTALEONI C, PENZIEN J, GRAMMATICO P, INTERNATIONAL JSRD STUDY GROUP, DALLAPICCOLA B, GLEESON JG, ATTIE-BITACH T, VALENTE EM. COLLABORATORS: ALI PACHA L, TAZIR M, ZANKL A, LEVENTER R, GRATTAN-SMITH P, JANECKE A, D'HOOGHE M, SZNAJER Y, VAN COSTER R, DEMERLEIR L, DIAS K, MOCO C, MOREIRA A, AE KIM C, MAEGAWA G, LONCAREVIC D, MEJASKI-BOSNJAK V, PETKOVIC D, ABDEL-SALAM GM, ABDEL-ALEEM A, ZAKI MS, MARTI I, QUIJANO-ROY S, SIGAUDY S, DE LONLAY P, ROMANO S, VERLOES A, TOURAINE R, KOENIG M, LAGIER-TOURENNE C, MESSER J, COLLIGNON P, WOLF N, PHILIPPI H, LEMKE J, DACOU-VOUTETAKIS C, KITSIOU TZELI S, PONS R, SZTRIHA L, HALLDORSSON S, JOHANNSDOTTIR J, LUDVIGSSON P, PHADKE SR, UDANI V, STUART B, MAGEE A, LEV D, MICHELSON M, BEN-ZEEV B, DI GIACOMO M, GENTILE M, GUANTI G, D'ADDATO O, PAPADIA F, SPANO M, BERNARDI F, SERI M, BENEDICENTI F, STANZIAL F, BORGATTI R, ACCORSI P, BATTAGLIA S, FAZZI E, GIORDANO L, IZZI C, PINELLI L, BOCCONE L, GUANCIALI P, ROMOLI R, BIGONI S, FERLINI A, ANDREUCCI E, DONATI MA, GENUARDI M, CARIDI G, DIVIZIA MT, FARAVELLI F, GHIGGERI G, PESSAGNO, AMORINI M, BRIGUGLIO M, BRIUGLIA S, RIGOLI L, SALPIETRO C, TORTORELLA G, ADAMI A, MARRA G, RIVA D, SCELSA B, SPACCINI L, UZIEL G, COPPOLA G, DEL GIUDICE E, VITIELLO G, LAVERDA AM, LUDWIG K, PERMUNIAN A, SUPPIEJ A, MACALUSO C, SIGNORINI S, UGGETTI C, BATTINI R, PRIOLO M, CILIO MR, D'AMICO A, DI SABATO ML, EMMA F, LEUZZI V, PARISI P, STRINGINI G, ZANNI G, POLLAZZON M, RENIERI A, VASCOTTO M, SILENGO M, DE VESCOVI R, GRECO D, ROMANO C, CAZZAGON M, SIMONATI A, AL-TAWARI AA, BASTAKI L, MÉGARBANÉ A, MATULEVICIENE A, SABOLIC AVRAMOVSKA V, SAID E, DE JONG MM, PRESCOTT T, STROMME P, VON DER LIPPE C, KOUL R, RAJAB A, AZAM M, BARBOT C, JOCIC-JAKUBI B, GENER QUEROL B, MARTORELL SAMPOL L, RODRIGUEZ B, PASCUAL-CASTROVIEJO I, STROZZI S, FLUSS J, TEBER S, TOPCU M, ANLAR B, COMU S, KARACA E, KAYSERILI H, YÜKSEL A, AKGUL M, AKCAKUS M, AL GAZALI L, NICHOLL D, WOODS CG, BENNETT C, HURST J, SHERIDAN E, BARNICOAT A, CARR L, HENNEKAM R, LEES M, MCKAY F, YATES L, BLAIR E, BERNES S, SANCHEZ H, CLARK AE, DEMARCO E, DONAHUE C, SHERR E, HAHN J, SANGER TD, GALLAGER TE, DOBYNS WB, DAUGHERTY C, KRISHNAMOORTHY KS, SARCO D, WALSH CA, MCKANNA T, MILISA J, CJUNG WK, DE VIVO DC, RAYNES H, SCHUBERT R, SEWARD A, BROOKS DG, GOLDSTEIN A, CALDWELL J, FINSECKE E, MARIA BL, HOLDEN K, CRUSE RP, SWOBODA KJ, VISKOCHIL D., Pediatric surgery, NCA - Childhood White Matter Diseases, Iannicelli, M, Brancati, F, Mougou Zerelli, S, Mazzotta, A, Thomas, S, Elkhartoufi, N, Travaglini, L, Gomes, C, Ardissino, Gl, Bertini, E, Boltshauser, E, Castorina, P, D'Arrigo, S, Fischetto, R, Leroy, B, Loget, P, Bonnière, M, Starck, L, Tantau, J, Gentilin, B, Majore, S, Swistun, D, Flori, E, Lalatta, F, Pantaleoni, C, Penzien, J, Grammatico, P, Dallapiccola, B, Gleeson, Jg, Attie Bitach, T, Valente, Em, International JSRD Study, Group, DEL GIUDICE, Ennio, University of Zurich, Attie-Bitach, T

المصدر: International JSRD Study Group 2010, ' Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies ', Human Mutation, vol. 31, no. 5, pp. E1319-E1331 . https://doi.org/10.1002/humu.21239Test
Human Mutation, 31(5), E1319-E1331. Wiley-Liss Inc.

مصطلحات موضوعية: Liver Cirrhosis, 2716 Genetics (clinical), meckelin, Ciliopathies, Joubert syndrome, Genotype, congenital hepatic fibrosis, coach syndrome, mks3, meckel syndrome, joubert syndrome, tmem67, TMEM67, Meckel syndrome, DNA Mutational Analysis, 610 Medicine & health, Biology, medicine.disease_cause, MKS3, COACH syndrome, Article, NO, 1311 Genetics, Nephronophthisis, Pregnancy, Prenatal Diagnosis, Genetics, medicine, COACH syndrome, Congenital hepatic fibrosis, Joubert syndrome, Meckel syndrome, MKS3, TMEM67, Missense mutation, Humans, Abnormalities, Multiple, Genetics (clinical), Mutation, Cilium, Membrane Proteins, Kidney Diseases, Cystic, medicine.disease, Phenotype, 10036 Medical Clinic, Female

وصف الملف: ELETTRONICO; IannicelliM,_2010.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8f64992e7a2eb93dc8f809d7d786fcfTest
https://doi.org/10.1002/humu.21239Test

المؤلفون: Francesco Brancati, Paola Fortugno, Irene Bottillo, Marc Lopez, Emmanuelle Josselin, Omar Boudghene Stambouli, Emanuele Agolini, Laura Bernardini, Emanuele Bellacchio, Miriam Iannicelli, ROSSI, Alfredo, Amina Dib Lachachi, Liborio Stuppia, Giandomenico Palka, Stefan Mundlos, Sigmar Stricker, Uwe Kornak, Giovanna Zambruno, Bruno Dallapiccola

المساهمون: Francesco, Brancati, Paola, Fortugno, Bottillo, Irene, Marc, Lopez, Emmanuelle, Josselin, Omar Boudghene Stambouli, Emanuele, Agolini, Laura, Bernardini, Emanuele, Bellacchio, Miriam, Iannicelli, Rossi, Alfredo, Amina Dib Lachachi, Liborio, Stuppia, Giandomenico, Palka, Stefan, Mundlo, Sigmar, Stricker, Uwe, Kornak, Giovanna, Zambruno, Bruno, Dallapiccola

مصطلحات موضوعية: Ectodermal Dysplasia-Syndactyly Syndrome

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/20691405; info:eu-repo/semantics/altIdentifier/wos/WOS:000281107000011; volume:87; issue:2; firstpage:265; lastpage:273; numberofpages:9; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11573/738469Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-77955579487; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000281107000011&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest; http://www.scopus.com/inward/record.url?eid=2-s2.0-77955579487&partnerID=65&md5=5d2e0cfee9a5d39be805e30d055e2c26Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2010.07.003Test
http://hdl.handle.net/11573/738469Test
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000281107000011&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest
http://www.scopus.com/inward/record.url?eid=2-s2.0-77955579487&partnerID=65&md5=5d2e0cfee9a5d39be805e30d055e2c26Test

المؤلفون: TRAVAGLINI, LORENA, Francesco Brancati, Tania Attie Bitach, Sophie Audollent, BERTINI, Enrico, Josseline Kaplan, Isabelle Perrault, Miriam Iannicelli, Brunella Mancuso, Luciana Rigoli, Jean Michel Rozet, Dominika Swistun, Jerlyn Tolentino, The International Jsrd Study Group, LEUZZI, Vincenzo, PARISI, Pasquale, Bruno Dallapiccola, Joseph G. Gleeson, Enza Maria Valente

المساهمون: Travaglini, Lorena, Francesco, Brancati, Tania Attie, Bitach, Sophie, Audollent, Bertini, Enrico, Josseline, Kaplan, Isabelle, Perrault, Miriam, Iannicelli, Brunella, Mancuso, Luciana, Rigoli, Jean Michel, Rozet, Dominika, Swistun, Jerlyn, Tolentino, The International Jsrd Study, Group, Leuzzi, Vincenzo, Parisi, Pasquale, Bruno, Dallapiccola, Joseph G., Gleeson, Enza Maria, Valente

مصطلحات موضوعية: joubert syndrome and related disorder, cep290, meckel syndrome, genomic rearrangement

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19764032; info:eu-repo/semantics/altIdentifier/wos/WOS:000270745000018; volume:149A; issue:10; firstpage:2173; lastpage:2180; numberofpages:8; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11573/143959Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-70349501422; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000270745000018&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest; http://www.scopus.com/inward/record.url?eid=2-s2.0-70349501422&partnerID=65&md5=096ebefa244793c3ce327be0fa74ed90Test

الإتاحة: https://doi.org/10.1002/ajmg.a.33025Test
http://hdl.handle.net/11573/143959Test
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000270745000018&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest
http://www.scopus.com/inward/record.url?eid=2-s2.0-70349501422&partnerID=65&md5=096ebefa244793c3ce327be0fa74ed90Test

المؤلفون: Barry Merriman, Tania Attié-Bitach, Ian A. Glass, Stanley F. Nelson, Friedhelm Hildebrandt, Hilary R Raynes, Enza Maria Valente, Koji Ikegami, Clare V. Logan, Jeong Ho Lee, Miriam Iannicelli, Mitsutoshi Setou, Jennifer L. Silhavy, Jesus Olvera, Eugen Boltshauser, Sarah E. Marsh, Andrew Cluckey, Ignacio P Castroviejo, Stephanie L. Bielas, Dan Doherty, Clara Barbot, Colin A. Johnson, Isabelle Rapin, Jana Schroth, Francesco Brancati, Andrew M. Schlossman, Carrie M. Louie, Ji Eun Lee, Joseph G. Gleeson, Maha S. Zaki

المساهمون: University of Zurich, Gleeson, Joseph G

المصدر: Nature genetics

مصطلحات موضوعية: Male, Glutamic Acid, 610 Medicine & health, Biology, Ciliopathies, Polymorphism, Single Nucleotide, Joubert syndrome, Article, 03 medical and health sciences, Mice, 0302 clinical medicine, 1311 Genetics, Cerebellar Diseases, Tubulin, Ciliogenesis, Genetics, medicine, Basal body, Animals, Humans, Cilia, Eye Abnormalities, Peptide Synthases, Polyglutamylation, 030304 developmental biology, Centrosome, 0303 health sciences, Polycystic Kidney Diseases, Cilium, Chromosome Mapping, Proteins, Syndrome, medicine.disease, Cell biology, Polyglycylation, Genetic Loci, 10036 Medical Clinic, Mutation, Ciliary Motility Disorders, Female, Protein Processing, Post-Translational, 030217 neurology & neurosurgery

وصف الملف: LeeJE,_2012.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cec080983a761f1e342875076e1bbe31Test
http://hdl.handle.net/11697/122772Test

المؤلفون: Ronen Spiegel, Magnus Landgren, Christoph E Schwarz, Enza Maria Valente, Melissa Lees, Lucio Giordano, Eugen Boltshauser, Raoul C.M. Hennekam, Renato Borgatti, Francesca Faravelli, Mårten Kyllerman, Lorenzo Pinelli, Filippo Arrigoni, Andrea Poretti, Francesco Brancati, Romina Romaniello, Thierry A. G. M. Huisman, Stefano D'Arrigo, Ianina Scheer, Daniel Tibussek, Gerhard Kluger, Miriam Iannicelli, Enrico Bertini, Giuseppina Vitiello

المساهمون: ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Paediatrics, University of Zurich, Valente, Enza Maria

المصدر: Orphanet journal of rare diseases, 7(1). BioMed Central
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 4 (2012)

مصطلحات موضوعية: Male, lcsh:Medicine, 0302 clinical medicine, Cerebellum, 2736 Pharmacology (medical), Genetics(clinical), Pharmacology (medical), Eye Abnormalities, 10. No inequality, Child, Genetics (clinical), Medicine(all), 0303 health sciences, Joubert syndrome and related disorders, Polydactyly, General Medicine, Anatomy, Kidney Diseases, Cystic, Orofaciodigital Syndromes, Magnetic Resonance Imaging, Hypoplasia, medicine.anatomical_structure, Phenotype, Child, Preschool, cerebellar malformation, Female, Brainstem, Adult, 2716 Genetics (clinical), Adolescent, 610 Medicine & health, Neuroimaging, Joubert syndrome, Retina, 03 medical and health sciences, Young Adult, Hypothalamic hamartoma, Tongue, Cerebellar Diseases, medicine, Humans, Abnormalities, Multiple, 030304 developmental biology, business.industry, Research, lcsh:R, Infant, Newborn, Infant, medicine.disease, 10036 Medical Clinic, Cerebellar vermis, business, neuroimaging, molar tooth sign, 030217 neurology & neurosurgery, Oral-facial-digital syndrome type VI

وصف الملف: 1750-1172-7-4.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6df2409b50a7df24049bf41c0a394287Test
https://doi.org/10.1186/1750-1172-7-4Test

المؤلفون: Bill H. Diplas, C. Geoffrey Woods, Erica E. Davis, Elizabeth R. Waters, László Sztriha, Maha S. Zaki, Carsten Russ, Miriam Iannicelli, Lihadh Al-Gazali, Susan Ferro-Novick, Kiley J. Hill, Ji Eun Lee, Jennifer L. Silhavy, Roshan Koul, Sophie Thomas, Colin A. Johnson, Anna Rajab, Joseph G. Gleeson, Christopher P. Bennett, Nicholas Katsanis, Friedhelm Hildebrandt, Stephanie L. Bielas, Stacey Gabriel, Masumi Abe, Clare V. Logan, Jeong Ho Lee, Tania Attié-Bitach, Saghira Malik Sharif, Enza Maria Valente, Francesco Brancati

المصدر: Science; Vol 335

مصطلحات موضوعية: Molecular Sequence Data, Mutation, Missense, Locus (genetics), Chromosomal rearrangement, Biology, Regulatory Sequences, Nucleic Acid, Retina, Conserved sequence, Cell Line, Evolution, Molecular, 03 medical and health sciences, Genetic Heterogeneity, 0302 clinical medicine, Cerebellar Diseases, Ciliogenesis, medicine, Animals, Humans, Amino Acid Sequence, Cilia, Eye Abnormalities, Transport Vesicles, Gene, Conserved Sequence, 030304 developmental biology, Cis-regulatory module, Genetics, Regulation of gene expression, 0303 health sciences, Multidisciplinary, Gene Expression Profiling, Membrane Proteins, Kidney Diseases, Cystic, medicine.disease, Ciliopathy, Protein Transport, Phenotype, Gene Expression Regulation, Genetic Loci, Multigene Family, Mutation, DNA, Intergenic, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::081883d94cd9ca34ae279867f5a71d72Test
http://hdl.handle.net/11386/3949664Test

المؤلفون: Marina Michelson, Yuval Yaron, Matthew Adams, Erica E. Davis, Barbara Illi, Carsten Russ, Clare V. Logan, Colin A. Johnson, Miriam Iannicelli, Annalisa Mazzotta, Soumaya Mougou-Zerelli, Sveva Romani, Charles M. Strom, Adila Al-Kindy, Carmelo Salpietro, Bill H. Diplas, Sophie Thomas, Enza Maria Valente, Joelle Roume, Jennifer L. Silhavy, Chris F. Inglehearn, Lorena Travaglini, Jeong Ho Lee, Francesco Brancati, Nadia Elkhartoufi, Carmelo Fede, Nicholas Katsanis, Friedhelm Hildebrandt, Tania Attié-Bitach, Ali Saad, Joseph G. Gleeson, Amanda Krause, Kristian Cibulskis, Michel Vekemans, Arnold Munnich, Bruria Ben-Zeev, Bruno Dallapiccola, Stavit A. Shalev, Sophie Saunier, Stacey Gabriel, Ji Eun Lee, Dominika Swistun, Carrie Sougnez, Katarzyna Szymanska, Mario Mikula, Tally Lerman Sagie, Eugen Boltshauser, Edgar A. Otto, Dorit Lev, Susanne Held, Jerlyn C Tolentino

المساهمون: University of Zurich

المصدر: Nature genetics

مصطلحات موضوعية: TMEM67, Ciliopathies, ACTIN CYTOSKELETON RENAL SYNDROME, Consanguinity, 0302 clinical medicine, DISSECTION, In Situ Hybridization, Zebrafish, Genetics, 0303 health sciences, Microscopy, Confocal, Cilium, Gene Expression Regulation, Developmental, BARDET BIEDL SYNDROME, PLANAR CELL POLARITY, GRUBER SYNDROME, GENE, PROTEINS, CILIARY, MECHANISMS, Syndrome, Pedigree, RPGRIP1L, RNA Interference, Green Fluorescent Proteins, Molecular Sequence Data, 610 Medicine & health, Biology, Polymorphism, Single Nucleotide, Joubert syndrome, Article, Cell Line, 03 medical and health sciences, 1311 Genetics, Ciliogenesis, medicine, Animals, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Amino Acid Sequence, Cilia, Meckel syndrome, 030304 developmental biology, Base Sequence, Gastrulation, Membrane Proteins, medicine.disease, Embryo, Mammalian, Ciliopathy, 10036 Medical Clinic, Jews, Mutation, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09d69bfc11a3f288b047760fc5da68bdTest
http://hdl.handle.net/11386/3949726Test

المؤلفون: S. Halldorsson, Elliott H. Sherr, Susana Quijano-Roy, Gaetano Tortorella, Marc D'Hooghe, M. M. De Jong, J. Caldwell, Gian M. Ghiggeri, Josseline Kaplan, Christopher P. Bennett, S. Comu, Vincenzo Leuzzi, Anna Rajab, Mary Kay Koenig, Serap Teber, Barbara Scelsa, G. Marra, S. Kitsiou Tzeli, D. Petkovic, Alex E. Clark, Bruno Dallapiccola, P. Collignon, V. Sabolic Avramovska, Richard J. Leventer, Robert P. Cruse, Sabrina Signorini, Raoul C.M. Hennekam, Nicole I. Wolf, A. M. Laverda, Brunella Mancuso, Clotilde Lagier-Tourenne, Kathrin Ludwig, C. Moco, Ender Karaca, Amy Goldstein, Stefania Bigoni, L. I. Al Gazali, Laila Bastaki, Jean Messer, E. Del Giudice, M. Cazzagon, A. Permunian, C. Ae Kim, Edward Blair, M. Di Giacomo, E. DeMarco, Melissa Lees, Renato Borgatti, Marilena Briguglio, H. Raynes, Renaud Touraine, Andreas Zankl, E. Finsecke, Itxaso Marti, Lorenzo Pinelli, S. Romano, Isabelle Perrault, Jane A. Hurst, Eamonn Sheridan, Kenton R. Holden, T. E. Gallager, P. De Lonlay, M. L. Di Sabato, Marina Michelson, Hülya Kayserili, Terry D. Sanger, Heike Philippi, Patrizia Accorsi, M. Silengo, Miriam Iannicelli, Lorena Travaglini, K. Dias, Gianluca Caridi, Loredana Boccone, J. Johannsdottir, R. De Vescovi, P. Ludvigsson, J. Hahn, Tania Attié-Bitach, Franco Stanzial, Silvia Battaglia, Francesco Brancati, Ghada M. H. Abdel-Salam, William B Dobyns, Enrico Bertini, Daria Riva, F. Benedicenti, Joseph G. Gleeson, Ryan D. Schubert, Roshan Koul, Kalpathy S. Krishnamoorthy, Luigina Spaccini, G. Uziel, Jean-Michel Rozet, M.A. Donati, Marzia Pollazzon, Sophie Audollent, Matloob Azam, Alex Magee, A. Adami, Ignacio Pascual-Castroviejo, Bernard Stuart, Rita Fischetto, Darryl C. De Vivo, Christopher A. Walsh, Asma A. Al-Tawari, Carla Uggetti, Alessandra Ferlini, Atıl Yüksel, Enza Maria Valente, Agnese Suppiej, Faustina Lalatta, Lucio Giordano, Maria Roberta Cilio, Bernard L. Maria, Trudy McKanna, S. Sigaudy, L. Demerleir, Carmelo Salpietro, Henry Sanchez, Bruria Ben-Zeev, A. Pessagno, Elisa Fazzi, J. Milisa, Shubha R. Phadke, D. Greco, Dominika Swistun, Yves Sznajer, B. Rodriguez, Silvana Briuglia, V. Udani, Francesca Faravelli, Maha S. Zaki, S. Bernes, Maria Teresa Divizia, C. Daugherty, David G. Brooks, Clara Barbot, László Sztriha, C. Donahue, Wendy K. Chung, Dean Sarco, Pierangela Castorina, Petter Strømme, Pasquale Parisi, Andreas R. Janecke, Roberta Battini, L. Martorell Sampol, M. Akcakus, Angela Barnicoat, Jerlyn C Tolentino, Dorit Lev, A. Seward, Banu Anlar, Corrado Romano, D. Nicholl, A. Moreira, Alice Abdel-Aleem, Padraic Grattan-Smith, C. G. Woods, Gustavo Maegawa, Alessandro Simonati, Kathryn J. Swoboda, David Viskochil, Luciana Rigoli, R. Van Coster, André Mégarbané

المساهمون: Pediatric surgery, ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Paediatric Genetics, Travaglini, L., Brancati, F., Attie Bitach, T., Audollent, S., Bertini, E., Kaplan, J., Perrault, I., Iannicelli, M., Mancuso, B., Rigoli, L., Rozet, J. M., Swistun, D., Tolentino, J., Dallapiccola, B., Gleeson, J. G., Valente, E. M., The International JSRD Study, Group, DEL GIUDICE, Ennio

المصدر: American Journal of Medical Genetics, Part A, 149(10), 2173-2180. Wiley-Liss Inc.
American journal of medical genetics. Part A, 149A(10), 2173-2180. Wiley-Liss Inc.
International JSRD Study Group 2009, ' Expanding CEP290 mutational spectrumin ciliopathies ', American Journal of Medical Genetics, Part A, vol. 149, no. 10, pp. 2173-2180 . https://doi.org/10.1002/ajmg.a.33025Test

مصطلحات موضوعية: genetic structures, DNA Mutational Analysis, Cell Cycle Proteins, Biology, Ciliopathies, cep290, Article, Joubert syndrome, meckel syndrome, 03 medical and health sciences, Exon, Fetus, 0302 clinical medicine, Bardet–Biedl syndrome, Joubert syndrome and related disorders, Meckel syndrome, CEP290, genomic rearrangement, Antigens, Neoplasm, Nephronophthisis, Genetics, medicine, joubert syndrome and related disorders, Humans, Abnormalities, Multiple, ciliopathy, Cilia, Genetic Testing, RNA, Messenger, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Base Sequence, Genomic rearrangement, Syndrome, medicine.disease, eye diseases, Neoplasm Proteins, Cytoskeletal Proteins, RPGRIP1L, Female, sense organs, Gene Deletion, 030217 neurology & neurosurgery

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f64afa39636eb3bd0d703cd79fea0af0Test
https://doi.org/10.1002/ajmg.a.33025Test

المؤلفون: Irene Bottillo, Alfredo De Rossi, Emanuele Bellacchio, Marc Lopez, Francesco Brancati, Emmanuelle Josselin, Bruno Dallapiccola, Paola Fortugno, Omar Boudghene-Stambouli, Liborio Stuppia, Uwe Kornak, Laura Bernardini, Amina Dib-Lachachi, Sigmar Stricker, Miriam Iannicelli, Stefan Mundlos, Emanuele Agolini, Giandomenico Palka, Giovanna Zambruno

المصدر: The American Journal of Human Genetics. (2):265-273

مصطلحات موضوعية: Adult, Male, Ectodermal dysplasia, Molecular Sequence Data, Biology, Frameshift mutation, Adherens junction, Mice, Ectodermal Dysplasia, Nectin, Report, Genetics, medicine, Animals, Humans, Missense mutation, Genetics(clinical), Abnormalities, Multiple, Family, Amino Acid Sequence, RNA, Messenger, Child, Genetics (clinical), Skin, Cadherin, Gene Expression Regulation, Developmental, Extremities, Syndrome, Hair follicle, Actin cytoskeleton, medicine.disease, Molecular biology, Pedigree, Protein Transport, medicine.anatomical_structure, Ectodermal Dysplasia-Syndactyly Syndrome, Mutation, Female, Syndactyly, Cell Adhesion Molecules, Hair

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60d0fd579b390b46bc09b3a25c9941ddTest