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• W2002885231 abstract "Clinical GeneticsVolume 76, Issue 6 p. 573-576 Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1-q21 chromosome deletion involving GPR56 gene Renato Borgatti, Corresponding Author Renato Borgatti Department of Child Neuropsychiatry and Neurorehabilitation, E. Medea Scientific Institute, Bosisio Parini, Lecco, ItalyRenato Borgatti, MD, Department of Child Neuropsychiatry and Neurorehabilitation 1 Scientific Institute ‘E. Medea’ Bosisio Parini Lecco, Italy.Tel.: +39-031-877811;fax: +39-031-877499;e-mail: [email protected]Search for more papers by this authorSusan Marelli, Susan Marelli Department of Child Neuropsychiatry and Neurorehabilitation, E. Medea Scientific Institute, Bosisio Parini, Lecco, ItalySearch for more papers by this authorLaura Bernardini, Laura Bernardini IRCCS-C.S.S. San Giovanni Rotondo and C.S.S.-Mendel Institute, Rome, ItalySearch for more papers by this authorAntonio Novelli, Antonio Novelli IRCCS-C.S.S. San Giovanni Rotondo and C.S.S.-Mendel Institute, Rome, ItalySearch for more papers by this authorAnna Cavallini, Anna Cavallini Department of Child Neuropsychiatry and Neurorehabilitation, E. Medea Scientific Institute, Bosisio Parini, Lecco, ItalySearch for more papers by this authorAlessandra Tonelli, Alessandra Tonelli Laboratory of Molecular Biology, E. Medea Scientific Institute, Bosisio Parini, Lecco, ItalySearch for more papers by this authorMaria Teresa Bassi, Maria Teresa Bassi Laboratory of Molecular Biology, E. Medea Scientific Institute, Bosisio Parini, Lecco, ItalySearch for more papers by this authorBruno Dallapiccola, Bruno Dallapiccola IRCCS-C.S.S. San Giovanni Rotondo and C.S.S.-Mendel Institute, Rome, Italy Department of Experimental Medicine, ‘Sapienza’ University, Rome, ItalySearch for more papers by this author Renato Borgatti, Corresponding Author Renato Borgatti Department of Child Neuropsychiatry and Neurorehabilitation, E. Medea Scientific Institute, Bosisio Parini, Lecco, ItalyRenato Borgatti, MD, Department of Child Neuropsychiatry and Neurorehabilitation 1 Scientific Institute ‘E. Medea’ Bosisio Parini Lecco, Italy.Tel.: +39-031-877811;fax: +39-031-877499;e-mail: [email protected]Search for more papers by this authorSusan Marelli, Susan Marelli Department of Child Neuropsychiatry and Neurorehabilitation, E. Medea Scientific Institute, Bosisio Parini, Lecco, ItalySearch for more papers by this authorLaura Bernardini, Laura Bernardini IRCCS-C.S.S. San Giovanni Rotondo and C.S.S.-Mendel Institute, Rome, ItalySearch for more papers by this authorAntonio Novelli, Antonio Novelli IRCCS-C.S.S. San Giovanni Rotondo and C.S.S.-Mendel Institute, Rome, ItalySearch for more papers by this authorAnna Cavallini, Anna Cavallini Department of Child Neuropsychiatry and Neurorehabilitation, E. Medea Scientific Institute, Bosisio Parini, Lecco, ItalySearch for more papers by this authorAlessandra Tonelli, Alessandra Tonelli Laboratory of Molecular Biology, E. Medea Scientific Institute, Bosisio Parini, Lecco, ItalySearch for more papers by this authorMaria Teresa Bassi, Maria Teresa Bassi Laboratory of Molecular Biology, E. Medea Scientific Institute, Bosisio Parini, Lecco, ItalySearch for more papers by this authorBruno Dallapiccola, Bruno Dallapiccola IRCCS-C.S.S. San Giovanni Rotondo and C.S.S.-Mendel Institute, Rome, Italy Department of Experimental Medicine, ‘Sapienza’ University, Rome, ItalySearch for more papers by this author First published: 20 November 2009 https://doi.org/10.1111/j.1399-0004.2009.01262.xCitations: 11Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1 Chang BS, Piao X, Bodell A et al. Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. Ann Neurol 2003: 53: 596–606. 2 Piao X, Chang, BS, Bodell A et al. Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. Ann Neurol 2005: 58: 680–687. 3 Jansen A, Andermann E. Genetics of polymicrogyria syndromes. J Med Genet 2005: 42: 369–378. 4 Piao X, Hill RS, Bodell A et al. G protein-coupled receptor-dependent development of human frontal cortex. Science 2004: 303(26): 2033–2036. 5 Liu M, Parker MC, Darby K et al. GPR56, a novel secretin-like human G-protein-coupled receptor gene. Genomics 1999: 55: 296–305. 6 Stacey M, Lin HH, Gordon S, McKnight AJ. LNB-TM7, a group of seven-transmembrane proteins related to family-B G-protein-coupled-receptor. Trends Biochem Sci 2000: 25: 284–289. 7 Togashi H, Abe K, Mizoguchi A et al. Cadherin regulates dentritic spine morphogenesis. Neuron 2002: 35: 77–89. 8 Lin J, Luo J, Redies C. Molecular cloning and expression analysis of three cadherin-8 isoforms in the embryonic chicken brain. Brain Res 2008: 1201: 1–14. 9 Hamacher M, Pippirs U, Kohler A, Muller HW, Bosse F. Plasmolipin: genomic structure, chromosomal localization, protein expression pattern, and putative association with Bardet-Biedl syndrome. Mamm Genome 2001: 12(12): 933–937. 10 Frediksson R, Gloriam DE, Hoglund PJ et al. There exist at least 30 human G-protein-coupled receptors with long Ser/Th-rich N-termini. Biochem Biophys Res Commun 2003: 301: 725–734. 11 Ke N, Ma H, Diedrich G et al. Biochemical characterization of genetic mutations of GPR56 in patients with bilateral frontoparietal polymicrogyria (BFPP). Biochem Biophys Res Commun 2008: 366: 314–320. 12 Jin Z, Tietjien I, Bu L et al. Disease-associated mutations affect GPR56 protein trafficking and cell surface expression. Hum Mol Genet 2007: 16: 1972–1985. 13 Li S, Jin Z, Koirala S et al. GPR56 regulates pial basement membrane integrity and cortical lamination. J Neurosci 2008: 28(22): 5817–5826. Citing Literature Volume76, Issue6December 2009Pages 573-576 ReferencesRelatedInformation" @default.
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