نتائج البحث - "Hillary, Raynes"

المساهمون: Valente, Em, Brancati, F, Silhavy, Jl, Castori, M, Marsh, Se, Barrano, G, Bertini, E, Boltshauser, E, Zaki, M, Abdel Aleem, A, Abdel Salam, Gm, Bellacchio, E, Battini, R, Cruse, Rp, Dobyns, Wb, Krishnamoorthy, K, 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, Dia, Carla, Moco, Ana, Moreira, Chong Ae, Kim, Gustavo, Maegawa, Itxaso, Marti, Susana Quijano, Roy, Alain, Verloe, 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, Mirjam M., de Jong, Matloob, Azam, Berta, Rodriguez, Hulya, Kayserili, Lihadh Al, Gazali, Laszlo, Sztriha, David, Nicholl, C., Geoffrey Wood, Raoul, Hennekam, Saunder, Berne, Henry, Sanchez, Aldon E., Clark, Elysa, Demarco, Clement, Donahue, Elliot, Sherr, Jin, Hahn, Terence, D, Sanger, Tomas E., Gallager H, Cynthia, Daugherty, Christopher A., Walsh, Trudy, Mckanna, Joanne, Milisa, Wendy K., Chung, Darryl C., De Vivo, Hillary, Rayne, Romaine, Schubert, Alison, Seward, David G., Brook, Amy, Goldstein, James, Caldwell, Eco, Finsecke, Kenton, Holden, Kathryn J., Swobod, Dave, Viskochil

مصطلحات موضوعية: Adaptor Proteins, Signal Transducing, Adolescent, Adult, Animal, Brain Disease, Brain Stem, Child, Preschool, Chromosome Disorder, DNA Mutational Analysi, Developmental Disabilitie, Family Health, Female, Gene Frequency, Human, Infant, Magnetic Resonance Imaging, Male, Models, Molecular, Polymorphism, Genetic, Mutation, Neuroscience (all)

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/16453322; info:eu-repo/semantics/altIdentifier/wos/WOS:000235920000012; volume:59; issue:3; firstpage:527; lastpage:534; numberofpages:8; journal:ANNALS OF NEUROLOGY; http://hdl.handle.net/11570/3101042; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-33644821331

الاتاحة: http://hdl.handle.net/11570/3101042
https://doi.org/10.1002/ana.20749

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9

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62211f8ecf25bb4cb028da7fe64b0a3e
http://hdl.handle.net/11570/3092293

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10

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3243eb573c5d84d0efe6229042b9a7cb
https://pubmed.ncbi.nlm.nih.gov/16453322

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11

Joubert Syndrome: Monozygotic Twins with Discordant Phenotype

المؤلفون: Hillary Raynes, Isabelle Rapin, Alan L. Shanske, Jacqueline A. Bello

المصدر: Pediatric Research. 45:346A-346A

مصطلحات موضوعية: Genetics, business.industry, Pediatrics, Perinatology and Child Health, medicine, medicine.disease, business, Phenotype, Joubert syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8d4640652261b382a92fe6f846413fcf
https://doi.org/10.1203/00006450-199904020-02057

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