| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Simone Berkel, Wannan Tang, Mario Treviño, Miriam Vogt, Horst Andreas Obenhaus, Peter Gass, Stephen Wayne Scherer, Rolf Sprengel, Gerhard Schratt, Gudrun Anna Rappol. Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology. Human molecular genetics. vol 21. issue 2. 2012-04-26. PMID:21994763. |
mutations in the postsynaptic scaffolding gene shank2 have recently been identified in individuals with autism spectrum disorder (asd) and intellectual disability. |
2012-04-26 |
2023-08-12 |
mouse |
| Jennifer A Ronesi, Katie A Collins, Seth A Hays, Nien-Pei Tsai, Weirui Guo, Shari G Birnbaum, Jia-Hua Hu, Paul F Worley, Jay R Gibson, Kimberly M Hube. Disrupted Homer scaffolds mediate abnormal mGluR5 function in a mouse model of fragile X syndrome. Nature neuroscience. vol 15. issue 3. 2012-04-18. PMID:22267161. |
enhanced metabotropic glutamate receptor subunit 5 (mglur5) function is causally associated with the pathophysiology of fragile x syndrome, a leading inherited cause of intellectual disability and autism. |
2012-04-18 |
2023-08-12 |
mouse |
| Xiaoming Wang, Portia A McCoy, Ramona M Rodriguiz, Yanzhen Pan, H Shawn Je, Adam C Roberts, Caroline J Kim, Janet Berrios, Jennifer S Colvin, Danielle Bousquet-Moore, Isabel Lorenzo, Gangyi Wu, Richard J Weinberg, Michael D Ehlers, Benjamin D Philpot, Arthur L Beaudet, William C Wetsel, Yong-Hui Jian. Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3. Human molecular genetics. vol 20. issue 15. 2011-12-14. PMID:21558424. |
small microdeletions and point mutations in shank3 have been identified in a small subgroup of individuals with autism spectrum disorder (asd) and intellectual disability. |
2011-12-14 |
2023-08-12 |
mouse |
| Catherine Saint-Georges, Ammar Mahdhaoui, Mohamed Chetouani, Raquel S Cassel, Marie-Christine Laznik, Fabio Apicella, Pietro Muratori, Sandra Maestro, Filippo Muratori, David Cohe. Do parents recognize autistic deviant behavior long before diagnosis? Taking into account interaction using computational methods. PloS one. vol 6. issue 7. 2011-12-06. PMID:21818320. |
to assess whether taking into account interaction synchrony would help to better differentiate autism (ad) from intellectual disability (id) and typical development (td) in family home movies of infants aged less than 18 months, we used computational methods. |
2011-12-06 |
2023-08-12 |
Not clear |
| Einat Granot-Hershkovitz, Annick Raas-Rothschild, Ayala Frumkin, David Granot, Shira Silverstein, Dvorah Abeliovic. Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: inv(2)(p15;q24.2). American journal of medical genetics. Part A. vol 155A. issue 8. 2011-11-23. PMID:21739571. |
the breakpoint at 2p was within the nrxn1 gene that has previously been associated with autism, intellectual disabilities, and psychiatric disorders. |
2011-11-23 |
2023-08-12 |
Not clear |
| Courtney P Burnette, Heather A Henderson, Anne Pradella Inge, Nicole E Zahka, Caley B Schwartz, Peter C Mund. Anterior EEG asymmetry and the Modifier Model of Autism. Journal of autism and developmental disorders. vol 41. issue 8. 2011-11-15. PMID:21107671. |
one study supporting this model found that measures of resting anterior eeg asymmetry, a measure reflecting complex brain processes associated with generic individual differences in approach and avoidance motivation, may help explain differences in the expression of autism in children without intellectual disabilities (sutton et al. |
2011-11-15 |
2023-08-12 |
Not clear |
| Flora Tassone, Silvia De Rubeis, Chiara Carosi, Giorgio La Fata, Gisele Serpa, Christopher Raske, Rob Willemsen, Paul J Hagerman, Claudia Bagn. Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles. Nucleic acids research. vol 39. issue 14. 2011-10-17. PMID:21478165. |
the 5'-utr of the fragile x mental retardation 1 (fmr1) gene contains a cgg repeat element that is expanded (>200 cgg repeats; full mutation) and methylated in fragile x syndrome (fxs), the most common form of inherited intellectual disability (id) and known cause of autism. |
2011-10-17 |
2023-08-12 |
mouse |
| Gaston Calfa, John J Hablitz, Lucas Pozzo-Mille. Network hyperexcitability in hippocampal slices from Mecp2 mutant mice revealed by voltage-sensitive dye imaging. Journal of neurophysiology. vol 105. issue 4. 2011-09-29. PMID:21307327. |
dysfunctions of neuronal and network excitability have emerged as common features in disorders associated with intellectual disabilities, autism, and seizure activity, all common clinical manifestations of rett syndrome (rtt), a neurodevelopmental disorder caused by loss-of-function mutations in the transcriptional regulator methyl-cpg-binding protein 2 (mecp2). |
2011-09-29 |
2023-08-12 |
mouse |
| Fadi F Hamdan, Hussein Daoud, Amélie Piton, Julie Gauthier, Sylvia Dobrzeniecka, Marie-Odile Krebs, Ridha Joober, Jean-Claude Lacaille, Amélie Nadeau, Jeff M Milunsky, Zhenyuan Wang, Lionel Carmant, Laurent Mottron, Miriam H Beauchamp, Guy A Rouleau, Jacques L Michau. De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. Biological psychiatry. vol 69. issue 9. 2011-08-15. PMID:21237447. |
de novo syngap1 mutations in nonsyndromic intellectual disability and autism. |
2011-08-15 |
2023-08-12 |
Not clear |
| Vasiliki Totsika, Richard P Hastings, Eric Emerson, Gillian A Lancaster, Damon M Berridg. A population-based investigation of behavioural and emotional problems and maternal mental health: associations with autism spectrum disorder and intellectual disability. Journal of child psychology and psychiatry, and allied disciplines. vol 52. issue 1. 2011-04-11. PMID:20649912. |
a population-based investigation of behavioural and emotional problems and maternal mental health: associations with autism spectrum disorder and intellectual disability. |
2011-04-11 |
2023-08-12 |
Not clear |
| I Filges, B Röthlisberger, A Blattner, N Boesch, P Demougin, F Wenzel, A R Huber, K Heinimann, P Weber, P Min. Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. Clinical genetics. vol 79. issue 1. 2011-03-21. PMID:21091464. |
deletion in xp22.11: ptchd1 is a candidate gene for x-linked intellectual disability with or without autism. |
2011-03-21 |
2023-08-12 |
mouse |
| I Filges, B Röthlisberger, A Blattner, N Boesch, P Demougin, F Wenzel, A R Huber, K Heinimann, P Weber, P Min. Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. Clinical genetics. vol 79. issue 1. 2011-03-21. PMID:21091464. |
our findings support the recent notions that ptchd1 may play a role in x-linked intellectual disability (xlid) and autism disorders. |
2011-03-21 |
2023-08-12 |
mouse |
| Fadi F Hamdan, Hussein Daoud, Daniel Rochefort, Amélie Piton, Julie Gauthier, Mathieu Langlois, Gila Foomani, Sylvia Dobrzeniecka, Marie-Odile Krebs, Ridha Joober, Ronald G Lafrenière, Jean-Claude Lacaille, Laurent Mottron, Pierre Drapeau, Miriam H Beauchamp, Michael S Phillips, Eric Fombonne, Guy A Rouleau, Jacques L Michau. De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. American journal of human genetics. vol 87. issue 5. 2011-01-24. PMID:20950788. |
de novo mutations in foxp1 in cases with intellectual disability, autism, and language impairment. |
2011-01-24 |
2023-08-12 |
Not clear |
| Abdul Noor, Annabel Whibley, Christian R Marshall, Peter J Gianakopoulos, Amelie Piton, Andrew R Carson, Marija Orlic-Milacic, Anath C Lionel, Daisuke Sato, Dalila Pinto, Irene Drmic, Carolyn Noakes, Lili Senman, Xiaoyun Zhang, Rong Mo, Julie Gauthier, Jennifer Crosbie, Alistair T Pagnamenta, Jeffrey Munson, Annette M Estes, Andreas Fiebig, Andre Franke, Stefan Schreiber, Alexandre F R Stewart, Robert Roberts, Ruth McPherson, Stephen J Guter, Edwin H Cook, Geraldine Dawson, Gerard D Schellenberg, Agatino Battaglia, Elena Maestrini, Linda Jeng, Terry Hutchison, Evica Rajcan-Separovic, Albert E Chudley, Suzanne M E Lewis, Xudong Liu, Jeanette J Holden, Bridget Fernandez, Lonnie Zwaigenbaum, Susan E Bryson, Wendy Roberts, Peter Szatmari, Louise Gallagher, Michael R Stratton, Jozef Gecz, Angela F Brady, Charles E Schwartz, Russell J Schachar, Anthony P Monaco, Guy A Rouleau, Chi-Chung Hui, F Lucy Raymond, Stephen W Scherer, John B Vincen. Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Science translational medicine. vol 2. issue 49. 2010-12-29. PMID:20844286. |
disruption at the ptchd1 locus on xp22.11 in autism spectrum disorder and intellectual disability. |
2010-12-29 |
2023-08-12 |
Not clear |
| Abdul Noor, Annabel Whibley, Christian R Marshall, Peter J Gianakopoulos, Amelie Piton, Andrew R Carson, Marija Orlic-Milacic, Anath C Lionel, Daisuke Sato, Dalila Pinto, Irene Drmic, Carolyn Noakes, Lili Senman, Xiaoyun Zhang, Rong Mo, Julie Gauthier, Jennifer Crosbie, Alistair T Pagnamenta, Jeffrey Munson, Annette M Estes, Andreas Fiebig, Andre Franke, Stefan Schreiber, Alexandre F R Stewart, Robert Roberts, Ruth McPherson, Stephen J Guter, Edwin H Cook, Geraldine Dawson, Gerard D Schellenberg, Agatino Battaglia, Elena Maestrini, Linda Jeng, Terry Hutchison, Evica Rajcan-Separovic, Albert E Chudley, Suzanne M E Lewis, Xudong Liu, Jeanette J Holden, Bridget Fernandez, Lonnie Zwaigenbaum, Susan E Bryson, Wendy Roberts, Peter Szatmari, Louise Gallagher, Michael R Stratton, Jozef Gecz, Angela F Brady, Charles E Schwartz, Russell J Schachar, Anthony P Monaco, Guy A Rouleau, Chi-Chung Hui, F Lucy Raymond, Stephen W Scherer, John B Vincen. Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Science translational medicine. vol 2. issue 49. 2010-12-29. PMID:20844286. |
here, we report mutations in the x-chromosome ptchd1 (patched-related) gene in seven families with autism spectrum disorder (asd) and in three families with intellectual disability. |
2010-12-29 |
2023-08-12 |
Not clear |
| Gemma M Griffith, Richard P Hastings, Susie Nash, Christopher Hil. Using matched groups to explore child behavior problems and maternal well-being in children with Down syndrome and autism. Journal of autism and developmental disorders. vol 40. issue 5. 2010-09-22. PMID:19936904. |
mothers of children with down syndrome, autism, and mixed etiology intellectual disabilities, matched on child age, gender, and communication skills (n = 19 in each group) completed measures of their child's adaptive and problem behaviors, their own parenting stress, and positive perceptions of their child. |
2010-09-22 |
2023-08-12 |
Not clear |
| Gemma M Griffith, Richard P Hastings, Susie Nash, Christopher Hil. Using matched groups to explore child behavior problems and maternal well-being in children with Down syndrome and autism. Journal of autism and developmental disorders. vol 40. issue 5. 2010-09-22. PMID:19936904. |
children with autism were rated as having more problem behaviors and lower levels of social competence than children with down syndrome and mixed etiology intellectual disabilities. |
2010-09-22 |
2023-08-12 |
Not clear |
| Rose White, Gladys Ho, Swetlana Schmidt, Ingrid E Scheffer, Alexandra Fischer, Simone C Yendle, Thierry Bienvenu, Juliette Nectoux, Carolyn J Ellaway, Artur Darmanian, XingZhang Tong, Desiree Cloosterman, Bruce Bennetts, Veena Kalra, Tod Fullston, Jozef Gecz, Timothy C Cox, John Christodoulo. Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. Twin research and human genetics : the official journal of the International Society for Twin Studies. vol 13. issue 2. 2010-08-04. PMID:20397747. |
in this study we screened several cohorts of children for cdkl5 mutations, totaling 316 patients, including individuals with a clinical diagnosis of rtt but who were negative for mecp2 mutations (n=102), males with x-linked mental retardation (n=9), patients with west syndrome (n=52), patients with autism (n=59), patients with epileptic encephalopathy (n=33), patients with aicardi syndrome (n=7) and other patients with intellectual disability with or without seizures (n=54). |
2010-08-04 |
2023-08-12 |
Not clear |
| Cheryl Shoubridge, May Huey Tan, Tod Fullston, Desiree Cloosterman, David Coman, George McGillivray, Grazia M Mancini, Tjitske Kleefstra, Jozef Géc. Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division. PathoGenetics. vol 3. 2010-02-11. PMID:20148114. |
nonsense mutations, polyalanine tract expansions and missense mutations in arx cause a range of intellectual disability and epilepsy phenotypes with or without additional features including hand dystonia, lissencephaly, autism or dysarthria. |
2010-02-11 |
2023-08-12 |
Not clear |
| D Ehninger, P J de Vries, A J Silv. From mTOR to cognition: molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis. Journal of intellectual disability research : JIDR. vol 53. issue 10. 2010-01-04. PMID:19694899. |
tuberous sclerosis (tsc) is a multi-system disorder caused by heterozygous mutations in the tsc1 or tsc2 gene and is often associated with neuropsychiatric symptoms, including intellectual disability, specific neuropsychological deficits, autism, other behavioural disorders and epilepsy. |
2010-01-04 |
2023-08-12 |
Not clear |