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: L. Travaglini, T. Attie Bitach, S. Audollent, E. Bertini, J. Kaplan, I. Perrault, M. Iannicelli, B. Mancuso, L. Rigoli, J. Rozet, D. Swistun, J. Tolentino, B. Dallapiccola, J. G. Gleeson, E. M. Valente, I. J. Study, A. Zankl, R. Leventer, P. Grattan Smith, A. Janecke, M. D'Hooghe, Y. Sznajer, R. V. Coster, L. Demerleir, K. Dias, C. Moco, A. Moreira, C. A. Kim, G. Maegawa, D. Petkovic, G. M. H, A. Abdel Aleem, M. S. Zaki, I. Marti, S. Quijano Roy, S. Sigaudy, P. d. Lonlay, S. Romano, R. Touraine, M. Koenig, C. Lagier Tourenne, J. Messer, P. Collignon, N. Wolf, H. Philippi, S. K. Tzeli, S. Halldorsson, J. Johannsdottir, P. Ludvigsson, S. R. Phadke, V. Udani, B. Stuart, A. Magee, D. Lev, M. Michelson, B. Ben Zeev, R. Fischetto, F. Benedicenti, F. Stanzial, R. Borgatti, P. Accorsi, S. Battaglia, E. Fazzi, L. Giordano, L. Pinelli, L. Boccone, S. Bigoni, A. Ferlini, M. A. Donati, G. Caridi, M. T. Divizia, F. Faravelli, G. Ghiggeri, A. Pessagno, M. Briguglio, S. Briuglia, C. D. Salpietro, G. Tortorella, A. Adami, P. Castorina, F. Lalatta, G. Marra, D. Riva, B. Scelsa, L. Spaccini, G. Uziel, E. D. Giudice, A. M. Laverda, K. Ludwig, A. Permunian, A. Suppiej, S. Signorini, C. Uggetti, R. Battini, M. D. Giacomo, M. R. Cilio, M. L. Di, V. Leuzzi, P. Parisi, M. Pollazzon, M. Silengo, R. D. Vescovi, D. Greco, C. Romano, M. Cazzagon, A. Simonati, A. A. Al Tawari, L. Bastaki, A. Mégarbané, V. S. Avramovska, M. M. de, P. Stromme, R. Koul, A. Rajab, M. Azam, C. Barbot, L. M. Sampol, B. Rodriguez, I. Pascual Castroviejo, S. Teber, B. Anlar, S. Comu, E. Karaca, H. Kayserili, A. Yüksel, M. Akcakus, L. A. Gazali, L. Sztriha, D. Nicholl, C. G. Woods, C. Bennett, J. Hurst, E. Sheridan, A. Barnicoat, R. Hennekam, M. Lees, E. Blair, S. Bernes, H. Sanchez, A. E. Clark, E. DeMarco, C. Donahue, E. Sherr, J. Hahn, T. D. Sanger, T. E. Gallager, W. B. Dobyns, C. Daugherty, K. S. Krishnamoorthy, D. Sarco, C. A. Walsh, T. McKanna, J. Milisa, W. K. Chung, D. C. De, H. Raynes, R. Schubert, A. Seward, D. G. Brooks, A. Goldstein, J. Caldwell, E. Finsecke, B. L. Maria, K. Holden, R. P. Cruse, K. J. Swoboda, D. Viskochil, BRANCATI, Francesco

المساهمون: L., Travaglini, Brancati, Francesco, T., Attie Bitach, S., Audollent, E., Bertini, J., Kaplan, I., Perrault, M., Iannicelli, B., Mancuso, L., Rigoli, J., Rozet, D., Swistun, J., Tolentino, B., Dallapiccola, J. G., Gleeson, E. M., Valente, I. J., Study, A., Zankl, R., Leventer, P., Grattan Smith, A., Janecke, M., D'Hooghe, Y., Sznajer, R. V., Coster, L., Demerleir, K., Dia, C., Moco, A., Moreira, C. A., Kim, G., Maegawa, D., Petkovic, G. M., H., A., Abdel Aleem, M. S., Zaki, I., Marti, S., Quijano Roy, S., Sigaudy, P. d., Lonlay, S., Romano, R., Touraine, M., Koenig, C., Lagier Tourenne, J., Messer, P., Collignon, N., Wolf, H., Philippi, S. K., Tzeli, S., Halldorsson, J., Johannsdottir, P., Ludvigsson, S. R., Phadke, V., Udani, B., Stuart, A., Magee, D., Lev, M., Michelson, B., Ben Zeev, R., Fischetto, F., Benedicenti, F., Stanzial, R., Borgatti, P., Accorsi, S., Battaglia, E., Fazzi, L., Giordano, L., Pinelli, L., Boccone, S., Bigoni, A., Ferlini, M. A., Donati, G., Caridi, M. T., Divizia, F., Faravelli, G., Ghiggeri, A., Pessagno, M., Briguglio, S., Briuglia, C. D., Salpietro, G., Tortorella, A., Adami, P., Castorina, F., Lalatta, G., Marra, D., Riva, B., Scelsa, L., Spaccini, G., Uziel, E. D., Giudice, A. M., Laverda, K., Ludwig, A., Permunian, A., Suppiej, S., Signorini, C., Uggetti, R., Battini, M. D., Giacomo, M. R., Cilio, M. L., Di, V., Leuzzi, P., Parisi

مصطلحات موضوعية: Abnormalitie, Multiple, genetics, Antigen, Neoplasm, genetics/metabolism, Base Sequence, Cilia, genetics/pathology, DNA Mutational Analysis, Female, Fetu, metabolism/pathology, Gene Deletion, Genetic Testing, Humans, Neoplasm Protein, RNA, Messenger, analysis, Syndrome

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19764032; volume:149A; firstpage:2173; lastpage:2180; numberofpages:7; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11564/270796Test; http://dx.doi.org/10.1002/ajmg.a.33025Test

الإتاحة: https://doi.org/10.1002/ajmg.a.33025Test
http://hdl.handle.net/11564/270796Test

المؤلفون: M. Iannicelli, F. Brancati, S. Mougou Zerelli, A. Mazzotta, S. Thomas, N. Elkhartoufi, L. Travaglini, C. Gomes, G. L. Ardissino, E. Bertini, E. Boltshauser, P. Castorina, S. D'Arrigo, R. Fischetto, B. Leroy, P. Loget, M. Bonniere, L. Starck, J. Tantau, B. Gentilin, S. Majore, D. Swistun, E. Flori, F. Lalatta, C. Pantaleoni, J. Penzien, GRAMMATICO, Paola, L. Ali Pacha, M. Tazir, A. Zankl, R. Leventer, P. Grattan Smith, A. Janecke, M. D'Hooghe, Y. Sznajer, R. Van Coster, L. Demerleir, K. Dias, C. Moco, A. Moreira, C. Ae Kim, G. Maegawa, D. Loncarevic, V. Mejaski Bosnjak, D. Petkovic, G. M. Abdel Salam, A. Abdel Aleem, M. S. Zaki, I. Marti, S. Quijano Roy, S. Sigaudy, P. De Lonlay, S. Romano, A. Verloes, R. Touraine, M. Koenig, C. Lagier Tourenne, J. Messer, P. Collignon, N. Wolf, H. Philippi, J. Lemke, C. Dacou Voutetakis, S. Kitsiou Tzeli, R. Pons, L. Sztriha, S. Halldorsson, J. Johannsdottir, P. Ludvigsson, S. R. Phadke, V. Udani, B. Stuart, A. Magee, D. Lev, M. Michelson, B. Ben Zeev, M. Di Giacomo, M. Gentile, G. Guanti, O. D'Addato, F. Papadia, M. Spano, F. Bernardi, M. Seri, F. Benedicenti, F. Stanzial, R. Borgatti, P. Accorsi, S. Battaglia, E. Fazzi, L. Giordano, C. Izzi, L. Pinelli, L. Boccone, P. Guanciali, R. Romoli, S. Bigoni, A. Ferlini, E. Andreucci, M. A. Donati, M. Genuardi, G. Caridi, M. T. Divizia, F. Faravelli, G. Ghiggeri, M. Amorini, M. Briguglio, S. Briuglia, L. Rigoli, C. Salpietro, G. Tortorella, A. Adami, G. Marra, D. Riva, B. Scelsa, L. Spaccini, G. Uziel, G. Coppola, E. Del Giudice, G. Vitiello, A. M. Laverda, K. Ludwig, A. Permunian, A. Suppiej, C. Macaluso, S. Signorini, C. Uggetti, R. Battini, M. Priolo, M. R. Cilio, A. D'Amico, M. L. Di Sabato, F. Emma, LEUZZI, Vincenzo, PARISI, Pasquale, G. Stringini, G. Zanni, M. Pollazzon, A. Renieri, M. Vascotto, M. Silengo, R. De Vescovi, D. Greco, C. Romano, M. Cazzagon, A. Simonati, A. A. Al Tawari, L. Bastaki, A. Megarbane, A. Matuleviciene, V. Sabolic Avramovska, E. Said, M. M. De Jong, T. Prescott, P. Stromme, C. Von Der Lippe, R. Koul, A. Rajab, M. Azam, C. Barbot, B. Jocic Jakubi, B. Gener Querol, L. Martorell Sampol, B. Rodriguez, I. Pascual Castroviejo, S. Strozzi, J. Fluss, S. Teber, M. Topcu, B. Anlar, S. Comu, E. Karaca, H. Kayserili, A. Yuksel, M. Akgul, M. Akcakus, L. Al Gazali, D. Nicholl, C. G. Woods, C. Bennett, J. Hurst, E. Sheridan, A. Barnicoat, L. Carr, R. Hennekam, M. Lees, F. Mckay, L. Yates, E. Blair, S. Bernes, H. Sanchez, A. E. Clark, Marco E. De, C. Donahue, E. Sherr, J. Hahn, T. D. Sanger, T. E. Gallager, W. B. Dobyns, C. Daugherty, K. S. Krishnamoorthy, D. Sarco, C. A. Walsh, T. Mc Kanna, J. Milisa, W. K. Cjung, D. C. De Vivo, H. Raynes, R. Schubert, A. Seward, D. G. Brooks, A. Goldstein, J. Caldwell, E. Finsecke, B. L. Maria, K. Holden, R. P. Cruse, K. J. Swoboda, D. Viskochil, B. Dallapiccola, J. G. Gleeson, T. Attie Bitach, E. M. Valente

المساهمون: Iannicelli, M., Brancati, F., Mougou Zerelli, S., Mazzotta, A., Thomas, S., Elkhartoufi, N., Travaglini, L., Gomes, C., Ardissino, G. L., Bertini, E., Boltshauser, E., Castorina, P., D'Arrigo, S., Fischetto, R., Leroy, B., Loget, P., Bonniere, M., Starck, L., Tantau, J., Gentilin, B., Majore, S., Swistun, D., Flori, E., Lalatta, F., Pantaleoni, C., Penzien, J., Grammatico, Paola, 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, G. M., Abdel Aleem, A., Zaki, M. S., 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, S. R., 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, M. A.

مصطلحات موضوعية: congenital hepatic fibrosi, coach syndrome, mks3, meckel syndrome, joubert syndrome, tmem67

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/20232449; info:eu-repo/semantics/altIdentifier/wos/WOS:000279982000001; volume:31; issue:5; firstpage:E1319; lastpage:E1331; numberofpages:13; journal:HUMAN MUTATION; http://hdl.handle.net/11573/227776Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-77951821478; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000279982000001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest; http://www.scopus.com/inward/record.url?eid=2-s2.0-77951821478&partnerID=65&md5=f5fcba4057c498376f525fc57a021f9cTest

الإتاحة: https://doi.org/10.1002/humu.21239Test
http://hdl.handle.net/11573/227776Test
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000279982000001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest
http://www.scopus.com/inward/record.url?eid=2-s2.0-77951821478&partnerID=65&md5=f5fcba4057c498376f525fc57a021f9cTest

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