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1
المؤلفون: Antonio Lacquaniti, Valentina Donato, Valeria Cernaro, Valeria Chirico, Michele Buemi, Carmelo Salpietro, Silvana Briuglia, Romina Gallizzi
المصدر: Renal Failure. 34:495-498
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Adolescent, Renal function, Disease, Lipocalin, Critical Care and Intensive Care Medicine, Ciliopathies, Retina, Joubert syndrome, Diagnosis, Differential, Young Adult, Joubert syndrome–related disorders, Lipocalin-2, Cerebellar Diseases, Nephronophthisis, Cerebellum, Proto-Oncogene Proteins, medicine, Humans, Abnormalities, Multiple, Eye Abnormalities, NGAL, business.industry, General Medicine, Kidney Diseases, Cystic, medicine.disease, Magnetic Resonance Imaging, Lipocalins, Early Diagnosis, biomarkers, Nephrology, Kidney Failure, Chronic, Biomarker (medicine), Female, business, Biomarkers, Acute-Phase Proteins, Follow-Up Studies, Kidney disease
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2
المؤلفون: Pascale de Lonlay, Ana Moreira, Clement Donahue, Graziella Uziel, Karin Dias, Silvana Briuglia, Saevar Halldorsson, Francesca Faravelli, William B. Dobyns, Bernard Stuart, Berta Rodriguez, Alberto Permunian, Laila Bastaki, Enrico Bertini, Lihadh Al Gazali, Michel Koenig, Richard J. Leventer, Saunder Bernes, Hillary Raynes, Bruno Dallapiccola, Chong Ae Kim, Jean Messer, Renaud Touraine, Carla Moco, Alessandro Simonati, Enza Maria Valente, Kathryn J. Swoboda, Mustafa Akcakus, Gustavo Maegawa, Lucio Giordano, Sinan Comu, Lorena Travaglini, Cynthia Daugherty, Shubha R. Phadke, Alex Magee, Sofia Kitsiou Tzeli, Elliot Sherr, Marina Michelson, Maha S. Zaki, Kenton R. Holden, Luciana Rigoli, Henry Sanchez, Ignacio Pascual-Castroviejo, Stefania Maria Bova, Robert P. Cruse, Alessandra Ferlini, Maria Alice Donati, Andreas R. Janecke, Rudy Van Coster, Amy Goldstein, David Nicholl, Mirjam M. de Jong, Melissa Lees, Clotilde Lagier-Tourenne, Loredana Boccone, Itxaso Marti, Peter Ludvigsson, Lorenzo Pinelli, Joanne Milisa, [No Value] Ahmad, Joseph G. Gleeson, Carmelo Salpietro, Terence D. Sanger, Elysa DeMarco, Dorit Lev, Alice Abdel-Aleem, Bruria Ben-Zeev, Asma A. Al-Tawari, Francesco Emma, Eco Finsecke, Pasquale Parisi, Roberta Battini, László Sztriha, Padraic Grattan-Smith, Maria Roberta Cilio, Matloob Azam, C. Geoffrey Woods, Elena Procopio, S. Romano, Hülya Kayserili, Martino Ruggieri, Christopher P. Bennett, Roshan Koul, Susana Quijano-Roy, Darryl C. De Vivo, Dave Viskochil, G. Montagna, Anna Rajab, Jennifer L. Silhavy, M. Gentile, Dean Sarco, Gaetano Tortorella, Jane A. Hurst, Chiara Pantaleoni, Kalpathy S. Krishnamoorthy, Patrizia Accorsi, Eugen Boltshauser, James Caldwell, Anna Maria Laverda, Daria Riva, Francesco Brancati, Trudy McKanna, Marilu Di Sabato, Jonina Johannsdottir, Marc D'Hooghe, Gian Marco Ghiggeri, David G. Brooks, Clara Barbot, Stefania Bigoni, Heike Philippi, Alison Seward, Gianluca Caridi, D. Zablocka, Alain Verloes, Aldon E. Clark, Wendy K. Chung, Rita Fischetto, Ghada M H Abdel-Salam, Silvia Battaglia, Raoul C.M. Hennekam, Bernard L. Maria, Romaine Schubert, Christopher A. Walsh, Tomas E. Gallager, Giuseppe Barrano, Stefano D'Arrigo, Vincenzo Leuzzi
مصطلحات موضوعية: Adult, Male, Cerebellum, DNA Mutational Analysis, RPGRIP1L, Biology, Kidney, medicine.disease_cause, Article, Joubert syndrome, NO, Cohort Studies, Exon, Nephronophthisis, Genetics, medicine, Humans, Genetic Testing, Genetics (clinical), Adaptor Proteins, Signal Transducing, Genetic testing, Family Health, Mutation, medicine.diagnostic_test, Joubert syndrome-related disorders, Syndrome, joubert syndrome-related disorders, molar tooth sign, nephronophthisis, rpgrip1l, medicine.disease, Magnetic Resonance Imaging, Phenotype, Joubert Syndrome Related Disorders, medicine.anatomical_structure, Child, Preschool, Female, Molar tooth sign, Brain Stem
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3Academic Journal
المؤلفون: Sönmez F., Güzünler-Şen M., Yılmaz D., Cömertpay G., Heise M., Çırak S., Uyanık G.
المساهمون: Çukurova Üniversitesi
مصطلحات موضوعية: Chronic kidney disease, Joubert syndrome, Joubert syndrome-related disorders, Nephronophthisis
Relation: Turkish Journal of Pediatrics; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/20.500.12605/13201; 56; 458; 461
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4Academic Journal
المؤلفون: LACQUANITI, ANTONIO, CHIRICO, VALERIA, DONATO, VALENTINA, BRIUGLIA, Silvana, CERNARO, VALERIA, GALLIZZI, Romina, SALPIETRO DAMIANO, Carmelo, BUEMI, Michele
المساهمون: Lacquaniti, Antonio, Chirico, Valeria, Donato, Valentina, Briuglia, Silvana, Cernaro, Valeria, Gallizzi, Romina, SALPIETRO DAMIANO, Carmelo, Buemi, Michele
مصطلحات موضوعية: biomarker, NGAL, Joubert syndrome–related disorders
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/22260509; info:eu-repo/semantics/altIdentifier/wos/000302561800015; volume:34; firstpage:495; lastpage:498; numberofpages:3; journal:RENAL FAILURE; http://hdl.handle.net/11570/2199821; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84859613450; http://dx.doi.org/10.3109/0886022X.2011.649677
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5Academic Journal
المؤلفون: Brancati, F, Travaglini, L, Zablocka, D, Boltshauser, E, Accorsi, P, Montagna, G, Silhavy, JL, Barrano, G, Bertini, E, Emma, F, Rigoli, L, Dallapiccola, B, Gleeson, JG, Valente, EM, International JSRD Study Group, -, Van Coster, Rudy
المصدر: CLINICAL GENETICS ; ISSN: 0009-9163
مصطلحات موضوعية: Medicine and Health Sciences, nephronophthisis, Joubert syndrome-related disorders, molar tooth sign
وصف الملف: application/pdf
Relation: https://biblio.ugent.be/publication/529483; http://hdl.handle.net/1854/LU-529483; http://dx.doi.org/10.1111/j.1399-0004.2008.01047.x; https://biblio.ugent.be/publication/529483/file/739494
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6
المؤلفون: Brancati, F., Barrano, G., Silhavy, J. L., Marsh, S. E., Travaglini, L., Bielas, S. L., Amorini, M., Zablocka, D., Kayserili, H., Al-Gazali, L., Bertini, E., Boltshauser, E., D'Hooghe, M., Fazzi, Eleonora, Fenerci, E. Y., Hennekam, R. C. M., Kiss, A., Lees, M. M., Marco, E., Phadke, S. R., Rigoli, L., Romano, S., Salpietro, C. D., Sherr, E. H., Signorini, S., Stromme, P., Stuart, B., Sztriha, L., Viskochil, D. H., Yuksel, A., Dallapiccola, B., Valente, E. M., Gleeson, J. G., Grattan-Smith, P., Leventer, R., Janecke, A., Van Coster, R., Dias, K., Moco, C., MOREIRA DA SILVA, CLAUDIA ALEXANDRA, Chong, A. K., Maegawa, G., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., De Lonlay, P., Verloes, A., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Philippi, H., Tzeli, S. K., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Fischetto, R., Gentile, M., Battaglia, S., Giordano, L., Boccone, L., Ruggieri, M., Bigoni, S., Ferlini, A., Donati, M. A., Procopio, E., Caridi, G., Faravelli, F., Ghiggeri, G., Briuglia, S., Tortorella, G., D'Arrigo, S., Pantaleoni, C., Riva, D., Uziel, G., Lavercla, A. M., Permunian, A., Bova, S., Battini, Roberta, Cilio, M. R., DI SABATO, Manuela, Emma, F., Leuzzi, V., Parisi, P., Simonati, A., Al-Tawari, A. A., Bastaki, L., Aqeel, A., De Jong, M. M., Koul, R., Rajab, A., Azam, M., Barbot, C., Rodriguez, B., Pascual-Castroviejo, I., Comu, S., Akcakus, M., Nicholl, D., Woods, C. G., Bennett, C., Hurst, J., Walsh, C. A., Bernes, S., Sanchez, H., Clark, A. E., Donahue, C., Hahn, J., Sanger, T. D., Gallager, T. E., Dobyns, W. B., Daugherty, C., Krishnamoorthy, K. S., Sarco, D., Mckanna, T., Milisa, J., Chung, W. K., De Vivo, D. C., Raynes, H., Schubert, R., Seward, A., Brooks, D. G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B. L., Holden, K., Cruse, R. P., Swoboda, K. J.
المساهمون: ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Paediatric Genetics
المصدر: American journal of human genetics, 81(1), 104-113. Cell Press
مصطلحات موضوعية: Male, Pathology, DNA Mutational Analysis, Cell Cycle Proteins, medicine.disease_cause, Ciliopathies, Ocular Motility Disorders, Cohort Studies, Joubert syndrome–related disorders, CEP290, Genetics(clinical), Child, Genetics (clinical), Genetics, Mutation, Brain, Syndrome, Phenotype, Magnetic Resonance Imaging, Kidney Diseases, Molar, Neoplasm Proteins, Child, Preschool, Abnormalities, Multiple, Adolescent, Adult, Antigens, Neoplasm, Female, Humans, Abnormalities, Multiple, medicine.medical_specialty, Biology, Article, Joubert syndrome, Central nervous system disease, medicine, Antigens, Preschool, Genetic heterogeneity, medicine.disease, Cytoskeletal Proteins, Situs inversus, Neoplasm
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7
المؤلفون: Valente, Em, Brancati, F, Silhavy, Jl, Castori, M, Marsh, Se, Barrano, G, Bertini, E, Boltshauser, E, Zaki, Ms, Abdel Aleem, A, Abdel Salam GM, Bellacchio, E, Battini, R, Cruse, Rp, Dobyns, Wb, Krishnamoorthy, Ks, Lagier Tourenne, C, Magee, A, Pascual Castroviejo, I, SALPIETRO DAMIANO, Carmelo, Sarco, D, Richard, Leventer, Padraic Grattan Smith, Andreas, Janecke, Marc, D’Hooghe, Rudy Van Coster, Karin, Dias, Carla, Moco, Ana, Moreira, Chong Ae Kim, Gustavo, Maegawa, Itxaso, Marti, Susana Quijano Roy, Alain, Verloes, Renaud, Touraine, Miche, Bernard, Stuart, Dorit, Lev, Bruria Ben Zeev, Rita, Fischetto, Mattia, Gentile, Lucio, Giordano, Loredana, Boccone, Martino, Ruggieri, Stefania, Bigoni, Maria Alide Donati, Elena, Procopio, Gianluca, Caridi, Francesca, Faravelli, Gianmarco, Ghiggeri, Briuglia, Silvana, Gaetano, Tortorella, Stefano, D’Arrigo, Chiara, Pantaleoni, Daria, Riva, Graziella, Uziel, Stefania, Bova, Elisa, Fazzi, Sabrina, Signorini, Maria Roberta Cilio, Marilu` Di Sabato, Francesco, Emma, Vincenzo, Leuzzi, Pasquale, Parisi, Alessandro, Simonati, de Jong, Mirjam M., Matloob, Azam, Berta, Rodriguez, Hulya, Kayserili, Lihadh Al Gazali, Laszlo, Sztriha, David, Nicholl, Geoffrey Woods, C., Raoul, Hennekam, Saunder, Bernes, Henry, Sanchez, Clark, Aldon E., Elysa, Demarco, Clement, Donahue, Elliot, Sherr, Jin, Hahn, Terence, D, Sanger, Gallager H, Tomas E., Cynthia, Daugherty, Walsh, Christopher A., Trudy, Mckanna, Joanne, Milisa, Chung, Wendy K., De Vivo, Darryl C., Hillary, Raynes, Romaine, Schubert, Alison, Seward, Brooks, David G., Amy, Goldstein, James, Caldwell, Eco, Finsecke, Kenton, Holden, Swobod, Kathryn J., Dave Viskochil, Dallapiccola, B, Gleeson, Jg
المصدر: Valente, E M; Brancat, F; Silhavy, J L; Castori, M; March, S E; Barrano, G; et al.(2006). AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Annals of Neurology, 59(3), 527-534. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/4jp5t97n
مصطلحات موضوعية: Male, Models, Molecular, Developmental Disabilities, DNA Mutational Analysis, Chromosome Disorders, Gene mutation, medicine.disease_cause, Gene Frequency, Models, Missense mutation, Adaptor Proteins, Signal Transducing, Adolescent, Adult, Animals, Brain Diseases, Brain Stem, Child, Child, Preschool, Family Health, Female, Humans, Infant, Magnetic Resonance Imaging, Polymorphism, Genetic, Mutation, Neuroscience (all), Genetics, Adaptor Proteins, Joubert syndrome, Joubert Syndrome Related Disorders, AHI1 gene, mutation, Neurology, Consanguinity, Biology, Genetic, medicine, Polymorphism, Preschool, Gene, Allele frequency, Signal Transducing, Molecular, medicine.disease, Adaptor Proteins, Vesicular Transport, Cerebellar vermis, Neurology (clinical)
وصف الملف: application/pdf
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