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Loci nominally associated with autism from genome-wide
analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci
Lea K Davis, Eric R Gamazon, Emily Kistner-Griffin, Judith A Badner, Chunyu Liu, Edwin H Cook, James S Sutcliffe, Nancy J Cox Molecular Autism 2012, 3:3 (16 May 2012)
Abstract | Provisional PDF
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Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci
Dale J Hedges, Kara L Hamilton-Nelson, Stephanie J Sacharow, Laura Nations, Gary W Beecham, Zhanna M Kozhekbaeva, Brittany L Butler, Holly N Cukier, Patrice L Whitehead, Deqiong Ma, James M Jaworski, Lubov Nathanson, Joycelyn M Lee, Stephen L Hauser, Jorge R Oksenberg, Michael L Cuccaro, Jonathan L Haines, John R Gilbert, Margaret A Pericak-Vance Molecular Autism 2012, 3:2 (2 April 2012)
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Editor’s summary
Support for the role of rare structural variants at multiple genomic loci in autism spectrum disorders, and in particular the significant enrichment of rare exonic deletions in NRXN1 in autistic vs. non-autistic individuals.
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Optimizing the phenotyping of rodent ASD models: enrichment analysis of mouse and human neurobiological phenotypes associated with high-risk autism genes identifies morphological, electrophysiological, neurological, and behavioral features
Joseph D Buxbaum, Catalina Betancur, Ozlem Bozdagi, Nate P Dorr, Gregory A Elder, Patrick R Hof Molecular Autism 2012, 3:1 (20 February 2012)
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Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples
Haley A Scoles, Nora Urraca, Samuel W Chadwick, Lawrence T Reiter, Janine M LaSalle Molecular Autism 2011, 2:19 (12 December 2011)
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An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males
Ren-Hua Chung, Deqiong Ma, Kai Wang, Dale J Hedges, James M Jaworski, John R Gilbert, Michael L Cuccaro, Harry H Wright, Ruth K Abramson, Ioanna Konidari, Patrice L Whitehead, Gerard D Schellenberg, Hakon Hakonarson, Jonathan L Haines, Margaret A Pericak-Vance, Eden R Martin Molecular Autism 2011, 2:18 (4 November 2011)
Abstract | Full text | PDF | PubMed
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Editor’s summary
TBL1X, which is part of the Wnt signaling pathway, is identified as a candidate gene for autism spectrum disorder (ASD), in the largest chromosome-wide study of the X chromosome in association with ASD.
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Autism risk assessment in siblings of affected children using sex-specific genetic scores
Jerome Carayol, Gerard D Schellenberg, Beth Dombroski, Emmanuelle Genin, Francis Rousseau, Geraldine Dawson Molecular Autism 2011, 2:17 (21 October 2011)
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Investigation of the serum levels of anterior pituitary hormones in male children with autism
Keiko Iwata, Hideo Matsuzaki, Taishi Miyachi, Chie Shimmura, Shiro Suda, Kenji J Tsuchiya, Kaori Matsumoto, Katsuaki Suzuki, Yasuhide Iwata, Kazuhiko Nakamura, Masatsugu Tsujii, Toshirou Sugiyama, Kohji Sato, Norio Mori Molecular Autism 2011, 2:16 (19 October 2011)
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Facial phenotypes in subgroups of prepubertal boys with autism spectrum disorders are correlated with clinical phenotypes
Kristina Aldridge, Ian D George, Kimberly K Cole, Jordan R Austin, T Nicole Takahashi, Ye Duan, Judith H Miles Molecular Autism 2011, 2:15 (14 October 2011)
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Editor’s summary
A distinctive facial phenotype in boys with autism, which differs from that of typically developing boys, may reflect alterations in embryologic brain development in children with autism spectrum disorders.
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Decreased expression of axon-guidance receptors in the anterior cingulate cortex in autism
Shiro Suda, Keiko Iwata, Chie Shimmura, Yosuke Kameno, Ayyappan Anitha, Ismail Thanseem, Kazuhiko Nakamura, Hideo Matsuzaki, Kenji J Tsuchiya, Genichi Sugihara, Yasuhide Iwata, Katsuaki Suzuki, Keita Koizumi, Haruhiro Higashida, Nori Takei, Norio Mori Molecular Autism 2011, 2:14 (22 August 2011)
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Increased midgestational IFN-γ, IL-4 and IL-5 in women bearing a child with autism: A case-control study
Paula E Goines, Lisa A Croen, Daniel Braunschweig, Cathleen K Yoshida, Judith Grether, Robin Hansen, Martin Kharrazi, Paul Ashwood, Judy Van de Water Molecular Autism 2011, 2:13 (2 August 2011)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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The ongoing dissection of the genetic architecture of autistic spectrum disorder
Rob F Gillis, Guy A Rouleau Molecular Autism 2011, 2:12 (8 July 2011)
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Transient and steady-state auditory gamma-band responses in first-degree relatives of people with autism spectrum disorder
Donald C Rojas, Peter D Teale, Keeran Maharajh, Eugene Kronberg, Katie Youngpeter, Lisa B Wilson, Alissa Wallace, Susan Hepburn Molecular Autism 2011, 2:11 (5 July 2011)
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Variation in the human cannabinoid receptor CNR1 gene modulates gaze duration for happy faces
Bhismadev Chakrabarti, Simon Baron-Cohen Molecular Autism 2011, 2:10 (29 June 2011)
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Editor’s summary
Variations in the CNR1 gene are associated with how long people look at facial expression of emotion, particularly happy faces; these findings could lead to further understanding of clinical conditions marked by atypical eye contact and facial emotion processing such as autism.
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Gene expression analysis in lymphoblasts derived from patients with autism spectrum disorder
Yuka Yasuda, Ryota Hashimoto, Hidenaga Yamamori, Kazutaka Ohi, Motoyuki Fukumoto, Satomi Umeda-Yano, Ikuko Mohri, Akira Ito, Masako Taniike, Masatoshi Takeda Molecular Autism 2011, 2:9 (26 May 2011)
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A quantitative association study of SLC25A12 and restricted repetitive behavior traits in autism spectrum disorders
Soo-Jeong Kim, Raquel M Silva, Cindi G Flores, Suma Jacob, Stephen Guter, Gregory Valcante, Annette M Zaytoun, Edwin H Cook, Judith A Badner Molecular Autism 2011, 2:8 (24 May 2011)
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Histopathologic characterization of the BTBR mouse model of autistic-like behavior reveals selective changes in neurodevelopmental proteins and adult hippocampal neurogenesis
Diane T Stephenson, Sharon M O'Neill, Sapna Narayan, Aadhya Tiwari, Elizabeth Arnold, Harry D Samaroo, Fu Du, Robert H Ring, Brian Campbell, Mathew Pletcher, Vidita A Vaidya, Daniel Morton Molecular Autism 2011, 2:7 (16 May 2011)
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Dysregulation of fragile X mental retardation protein and metabotropic glutamate receptor 5 in superior frontal cortex of individuals with autism: a postmortem brain study
S Hossein Fatemi, Timothy D Folsom Molecular Autism 2011, 2:6 (6 May 2011)
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Further characterization of autoantibodies to GABAergic neurons in the central nervous system produced by a subset of children with autism
Sharifia Wills, Christy C Rossi, Jeffrey Bennett, Veronica Martinez-Cerdeño, Paul Ashwood, David G Amaral, Judy Van de Water Molecular Autism 2011, 2:5 (26 April 2011)
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Review of neuroimaging in autism spectrum disorders: what have we learned and where we go from here
Evdokia Anagnostou, Margot J Taylor Molecular Autism 2011, 2:4 (18 April 2011)
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Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism
Katherine E Tansey, Matthew J Hill, Lynne E Cochrane, Michael Gill, Richard JL Anney, Louise Gallagher Molecular Autism 2011, 2:3 (31 March 2011)
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Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome
Claudia M Greco, Celestine S Navarro, Michael R Hunsaker, Izumi Maezawa, John F Shuler, Flora Tassone, Mary Delany, Jacky W Au, Robert F Berman, Lee-Way Jin, Cynthia Schumann, Paul J Hagerman, Randi J Hagerman Molecular Autism 2011, 2:2 (8 February 2011)
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A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism
John P Hussman, Ren-Hua Chung, Anthony J Griswold, James M Jaworski, Daria Salyakina, Deqiong Ma, Ioanna Konidari, Patrice L Whitehead, Jeffery M Vance, Eden R Martin, Michael L Cuccaro, John R Gilbert, Jonathan L Haines, Margaret A Pericak-Vance Molecular Autism 2011, 2:1 (19 January 2011)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication
Ozlem Bozdagi, Takeshi Sakurai, Danae Papapetrou, Xiaobin Wang, Dara L Dickstein, Nagahide Takahashi, Yuji Kajiwara, Mu Yang, Adam M Katz, Maria Scattoni, Mark J Harris, Roheeni Saxena, Jill L Silverman, Jacqueline N Crawley, Qiang Zhou, Patrick R Hof, Joseph D Buxbaum Molecular Autism 2010, 1:15 (17 December 2010)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central | F1000 Biology
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Editor’s summary
Recent discovery may explain how mutations affecting SHANK3 may lead to autism spectrum disorders
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PCR and serology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism
Brent C Satterfield, Rebecca A Garcia, Fiorella Gurrieri, Charles E Schwartz Molecular Autism 2010, 1:14 (14 October 2010)
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Elevated cortisol during play is associated with age and social engagement in children with autism
Blythe A Corbett, Clayton W Schupp, David Simon, Niles Ryan, Sally Mendoza Molecular Autism 2010, 1:13 (27 September 2010)
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