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1.
909 Accesses
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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)
Abstract | Full text | PDF | PubMed
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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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2.
815 Accesses
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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)
Abstract | Full text | PDF | PubMed
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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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3.
488 Accesses
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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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4.
260 Accesses
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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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5.
237 Accesses
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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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6.
229 Accesses
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Fragile X and autism: Intertwined at the molecular level leading to targeted treatments
Randi Hagerman, Gry Hoem, Paul Hagerman Molecular Autism 2010, 1:12 (21 September 2010)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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7.
222 Accesses
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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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8.
220 Accesses
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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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9.
203 Accesses
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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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10.
194 Accesses
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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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11.
178 Accesses
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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)
Abstract | Full text | PDF | PubMed
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12.
175 Accesses
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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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13.
168 Accesses
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Defining the broader, medium and narrow autism phenotype among parents using the Autism Spectrum Quotient (AQ)
Sally Wheelwright, Bonnie Auyeung, Carrie Allison, Simon Baron-Cohen Molecular Autism 2010, 1:10 (17 June 2010)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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Editor’s summary
The Autism Spectrum Quotient self-report questionnaire can be used to assess the broader, medium and narrow autism phenotypes in non-clinical samples, including first-degree relatives of individuals with autism spectrum conditions.
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14.
169 Accesses
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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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15.
161 Accesses
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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)
Abstract | Full text | PDF | PubMed
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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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16.
156 Accesses
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Foetal testosterone and autistic traits in 18 to 24-month-old children
Bonnie Auyeung, Kevin Taylor, Gerald Hackett, Simon Baron-Cohen Molecular Autism 2010, 1:11 (12 July 2010)
Abstract | Full text | PDF | PubMed
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Editor’s summary
Increased prenatal exposure to testosterone is associated with autistic traits in children aged 18 to 24 months and is consistent with positive correlations previously identified in older children and adults.
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17.
148 Accesses
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A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region
L McInnes, Alisa Nakamine, Marion Pilorge, Tracy Brandt, Patricia Jiménez González, Marietha Fallas, Elina R Manghi, Lisa Edelmann, Joseph Glessner, Hakon Hakonarson, Catalina Betancur, Joseph D Buxbaum Molecular Autism 2010, 1:5 (19 March 2010)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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18.
148 Accesses
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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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19.
140 Accesses
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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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20.
133 Accesses
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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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21.
127 Accesses
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Genome-wide linkage using the Social Responsiveness Scale in Utah autism pedigrees
Hilary Coon, Michele E Villalobos, Reid J Robison, Nicola J Camp, Dale S Cannon, Kristina Allen-Brady, Judith S Miller, William M McMahon Molecular Autism 2010, 1:8 (8 April 2010)
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22.
127 Accesses
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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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23.
123 Accesses
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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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24.
121 Accesses
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Assessing the impact of a combined analysis of four common low-risk genetic variants on autism risk
Jerome Carayol, Gerard D Schellenberg, Frederic Tores, Jörg Hager, Andreas Ziegler, Geraldine Dawson Molecular Autism 2010, 1:4 (22 February 2010)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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25.
116 Accesses
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Candidate gene study of HOXB1 in autism spectrum disorder
Lucia A Muscarella, Vito Guarnieri, Roberto Sacco, Paolo Curatolo, Barbara Manzi, Riccardo Alessandrelli, Grazia Giana, Roberto Militerni, Carmela Bravaccio, Carlo Lenti, Monica Saccani, Cindy Schneider, Raun Melmed, Leonardo D'Agruma, Antonio M Persico Molecular Autism 2010, 1:9 (25 May 2010)
Abstract | Full text | PDF | PubMed
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