Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Sykes NH"'
Autor:
Sykes NH, Wilson N, Volpi EV, Sousa I, Pagnamenta AT, Tancredi R, Battaglia A, Bailey AJ, Monaco AP, International Molecular Genetic Study of Autism Consortium, TOMA, CLAUDIO, MAESTRINI, ELENA
Publikováno v:
European Journal of Human Genetics
SHANK3 is located on chromosome 22q13.3 and encodes a scaffold protein that is found in excitatory synapses opposite the pre-synaptic active zone. SHANK3 is a binding partner of neuroligins, some of whose genes contain mutations in a small subset of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38be1abd7b26ef2cc540908cbc7d07df
http://europepmc.org/articles/PMC2752466
http://europepmc.org/articles/PMC2752466
Autor:
Holt, R, Sykes, NH, Conceição, IC, Cazier, JB, Anney, RJ, Oliveira, G, Gallagher, L, Monaco, AP, Pagnamenta, AT
There is strong evidence that rare copy number variants (CNVs) have a role in susceptibility to autism spectrum disorders (ASDs). Much research has focused on how CNVs mediate a phenotypic effect by altering gene expression levels. We investigated an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1504::6b59c73fbc76b97dc8e4222f209ad4bd
https://hdl.handle.net/10400.4/1424
https://hdl.handle.net/10400.4/1424
Autor:
O Korvatska, Alistair T. Pagnamenta, Claudio Toma, Fiorella Minopoli, Jennifer Reichert, Joseph D. Buxbaum, Janine A. Lamb, H Butler, A de Bildt, Geraldine Dawson, Laura Winchester, Anthony J. Bailey, Gabrielle Barnby, Elena Bacchelli, Inês Sousa, Nuala Sykes, Elena Maestrini, Erik J. Mulder, Thomas S. Scerri, Guiqing Cai, Gerard D. Schellenberg, Andrew P. Morris, Ruud B. Minderaa, Anthony P. Monaco
Publikováno v:
Molecular Psychiatry
Molecular Psychiatry, 15(9), 954-968. Nature Publishing Group
Molecular Psychiatry, 15(9), 954-968. Nature Publishing Group
Autism spectrum disorders are a group of highly heritable neurodevelopmental disorders with a complex genetic etiology. The International Molecular Genetic Study of Autism Consortium previously identified linkage loci on chromosomes 7 and 2, termed A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78ef83e9ff73b74d4814f220b8bb7034
https://doi.org/10.1038/mp.2009.34
https://doi.org/10.1038/mp.2009.34
Autor:
Richard Holt, Inês Sousa, Maja K. Choma, Agatino Battaglia, Nuala Sykes, Elena Maestrini, Janine A. Lamb, Anthony P. Monaco, Kazuhiro Kobayashi, Claudio Toma, Taane G. Clark, Anthony J. Bailey
Publikováno v:
European journal of human genetics : EJHG. 17(6)
Austism is a common, severe and highly heritable neurodevelopmental disorder. The International Molecular Genetic Study of Autism Consortium (IMGSAC) genome screen for linkage in affected sib-pair families identified a chromosome 7 q susceptibility l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::895d3beb962700690ea99cbc783f0799
http://ora.ox.ac.uk/objects/uuid:208db0b9-c357-4ea2-b39f-ce938b000d7b
http://ora.ox.ac.uk/objects/uuid:208db0b9-c357-4ea2-b39f-ce938b000d7b
Autor:
Holt R; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK., Sykes NH, Conceição IC, Cazier JB, Anney RJ, Oliveira G, Gallagher L, Vicente A, Monaco AP, Pagnamenta AT
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2012 Nov; Vol. 20 (11), pp. 1141-7. Date of Electronic Publication: 2012 May 02.
Autor:
Maestrini E; Department of Biology, University of Bologna, Bologna, Italy., Pagnamenta AT, Lamb JA, Bacchelli E, Sykes NH, Sousa I, Toma C, Barnby G, Butler H, Winchester L, Scerri TS, Minopoli F, Reichert J, Cai G, Buxbaum JD, Korvatska O, Schellenberg GD, Dawson G, de Bildt A, Minderaa RB, Mulder EJ, Morris AP, Bailey AJ, Monaco AP
Publikováno v:
Molecular psychiatry [Mol Psychiatry] 2010 Sep; Vol. 15 (9), pp. 954-68. Date of Electronic Publication: 2009 Apr 28.
Autor:
Sousa I; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK., Clark TG, Toma C, Kobayashi K, Choma M, Holt R, Sykes NH, Lamb JA, Bailey AJ, Battaglia A, Maestrini E, Monaco AP
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2009 Jun; Vol. 17 (6), pp. 749-58. Date of Electronic Publication: 2008 Nov 12.
Publikováno v:
Expert reviews in molecular medicine [Expert Rev Mol Med] 2007 Sep 03; Vol. 9 (24), pp. 1-15. Date of Electronic Publication: 2007 Sep 03.