| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Jerritta Selvaraj, Murugappan Murugappan, Khairunizam Wan, Sazali Yaaco. Classification of emotional states from electrocardiogram signals: a non-linear approach based on Hurst. Biomedical engineering online. vol 12. 2013-12-11. PMID:23680041. |
identifying the emotional state is helpful in applications involving patients with autism and other intellectual disabilities; computer-based training, human computer interaction etc. |
2013-12-11 |
2023-08-12 |
human |
| Ioannis Kramvis, Huibert D Mansvelder, Maarten Loos, Rhiannon Meredit. Hyperactivity, perseveration and increased responding during attentional rule acquisition in the Fragile X mouse model. Frontiers in behavioral neuroscience. vol 7. 2013-12-06. PMID:24312033. |
attentional deficits and executive function impairments are common to many neurodevelopmental disorders of intellectual disability and autism, including fragile x syndrome (fxs). |
2013-12-06 |
2023-08-12 |
mouse |
| Gregory Ryan Handrigan, David Chitayat, Anath C Lionel, Maury Pinsk, Andrea K Vaags, Christian R Marshall, Sarah Dyack, Luis F Escobar, Bridget A Fernandez, Joseph C Stegman, Jill A Rosenfeld, Lisa G Shaffer, McKinsey Goodenberger, Jennelle C Hodge, Jason E Cain, Riyana Babul-Hirji, Dimitri J Stavropoulos, Verna Yiu, Stephen W Scherer, Norman D Rosenblu. Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation. Journal of medical genetics. vol 50. issue 3. 2013-11-25. PMID:23335808. |
contiguous gene deletions involving ankrd11 in 16q24.3 are associated with autism spectrum disorder (asd) and intellectual disability (id), while 16q24.1 deletions affecting foxf1 are associated with congenital renal malformations, alveolar capillary dysplasia, and various other abnormalities. |
2013-11-25 |
2023-08-12 |
Not clear |
| Brooke Ingersoll, Katherine Walton, Danielle Carlsen, Theresa Hamli. Social intervention for adolescents with autism and significant intellectual disability: initial efficacy of reciprocal imitation training. American journal on intellectual and developmental disabilities. vol 118. issue 4. 2013-10-22. PMID:23937368. |
social intervention for adolescents with autism and significant intellectual disability: initial efficacy of reciprocal imitation training. |
2013-10-22 |
2023-08-12 |
Not clear |
| Jason J Wolff, Susan C Hupp, Frank J Symon. Brief report: Avoidance extinction as treatment for compulsive and ritual behavior in autism. Journal of autism and developmental disorders. vol 43. issue 7. 2013-10-17. PMID:23179345. |
the present study assessed an avoidance extinction approach to treatment of frequent, idiosyncratic ritual and compulsive behaviors among a small clinical sample (n = 3) of adults with autism and intellectual disability. |
2013-10-17 |
2023-08-12 |
human |
| Frédérique Béna, Damien L Bruno, Mats Eriksson, Conny van Ravenswaaij-Arts, Zornitza Stark, Trijnie Dijkhuizen, Erica Gerkes, Stefania Gimelli, Devika Ganesamoorthy, Ann Charlotte Thuresson, Audrey Labalme, Marianne Till, Frédéric Bilan, Laurent Pasquier, Alain Kitzis, Christele Dubourgm, Massimiliano Rossi, Armand Bottani, Maryline Gagnebin, Damien Sanlaville, Brigitte Gilbert-Dussardier, Michel Guipponi, Arie van Haeringen, Marjolein Kriek, Claudia Ruivenkamp, Stylianos E Antonarakis, Britt Marie Anderlid, Howard R Slater, Jacqueline Schouman. Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. vol 162B. issue 4. 2013-10-17. PMID:23533028. |
assessment of the clinical details in 25 previously undescribed individuals with nrxn1 exonic deletions demonstrated recurrent phenotypic features consisting of moderate to severe intellectual disability (91%), severe language delay (81%), autism spectrum disorder (65%), seizures (43%), and hypotonia (38%). |
2013-10-17 |
2023-08-12 |
Not clear |
| Adriana Lo-Castro, Francesco Brancati, Maria Cristina Digilio, Francesco Giuseppe Garaci, Patrizio Bollero, Paolo Alfieri, Paolo Curatol. Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. vol 162B. issue 1. 2013-09-16. PMID:23184435. |
recently, mutations in ankrd11 gene have been identified in a subset of patients with kbg syndrome, while a contiguous gene deletion syndrome involving 16q24.3 region (including ankrd11) was delineated in patients with facial dysmorphism, autism, intellectual disability, and brain abnormalities. |
2013-09-16 |
2023-08-12 |
Not clear |
| James P Clement, Emin D Ozkan, Massimiliano Aceti, Courtney A Miller, Gavin Rumbaug. SYNGAP1 links the maturation rate of excitatory synapses to the duration of critical-period synaptic plasticity. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 33. issue 25. 2013-08-30. PMID:23785156. |
in this study, we demonstrate that inactivation of a single copy of syngap1, which causes a surprisingly common form of sporadic, non-syndromic intellectual disability with autism in humans, induced widespread early functional maturation of excitatory connections in the mouse neocortex. |
2013-08-30 |
2023-08-12 |
mouse |
| Elizabeth A Normand, Shane R Crandall, Catherine A Thorn, Emily M Murphy, Bettina Voelcker, Catherine Browning, Jason T Machan, Christopher I Moore, Barry W Connors, Mark Zerva. Temporal and mosaic Tsc1 deletion in the developing thalamus disrupts thalamocortical circuitry, neural function, and behavior. Neuron. vol 78. issue 5. 2013-08-19. PMID:23664552. |
tuberous sclerosis is a developmental genetic disorder caused by mutations in tsc1, which results in epilepsy, autism, and intellectual disability. |
2013-08-19 |
2023-08-12 |
mouse |
| Stephanie A Hayes, Shelley L Watso. The impact of parenting stress: a meta-analysis of studies comparing the experience of parenting stress in parents of children with and without autism spectrum disorder. Journal of autism and developmental disorders. vol 43. issue 3. 2013-08-15. PMID:22790429. |
researchers commonly report that families of children with autism spectrum disorder (asd) experience more parenting stress than families of typically developing (td) children or those diagnosed with other disabilities [e.g., down syndrome (ds), cerebral palsy, intellectual disability]. |
2013-08-15 |
2023-08-12 |
Not clear |
| M Justin Coffe. Resolution of self-injury with phenytoin in a man with autism and intellectual disability: the role of frontal lobe seizures and catatonia. The journal of ECT. vol 29. issue 1. 2013-08-06. PMID:23422527. |
resolution of self-injury with phenytoin in a man with autism and intellectual disability: the role of frontal lobe seizures and catatonia. |
2013-08-06 |
2023-08-12 |
Not clear |
| Martin H Berryer, Fadi F Hamdan, Laura L Klitten, Rikke S Møller, Lionel Carmant, Jeremy Schwartzentruber, Lysanne Patry, Sylvia Dobrzeniecka, Daniel Rochefort, Mathilde Neugnot-Cerioli, Jean-Claude Lacaille, Zhiyv Niu, Christine M Eng, Yaping Yang, Sylvain Palardy, Céline Belhumeur, Guy A Rouleau, Niels Tommerup, Ladonna Immken, Miriam H Beauchamp, Gayle Simpson Patel, Jacek Majewski, Mark A Tarnopolsky, Klaus Scheffzek, Helle Hjalgrim, Jacques L Michaud, Graziella Di Crist. Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. Human mutation. vol 34. issue 2. 2013-07-26. PMID:23161826. |
mutations in syngap1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. |
2013-07-26 |
2023-08-12 |
Not clear |
| Andrea Klunder Petersen, Ausaf Ahmad, Mustafa Shafiq, Brigette Brown-Kipphut, Chin-To Fong, M Anwar Iqba. Deletion 1q43 encompassing only CHRM3 in a patient with autistic disorder. European journal of medical genetics. vol 56. issue 2. 2013-07-15. PMID:23253743. |
deletions on the distal portion of the long arm of chromosome 1 result in complex and highly variable clinical phenotypes which include intellectual disability, autism, seizures, microcephaly/craniofacial dysmorphology, corpus callosal agenesis/hypogenesis, cardiac and genital anomalies, hand and foot abnormalities and short stature. |
2013-07-15 |
2023-08-12 |
Not clear |
| C Halgren, S Kjaergaard, M Bak, C Hansen, Z El-Schich, C M Anderson, K F Henriksen, H Hjalgrim, M Kirchhoff, E K Bijlsma, M Nielsen, N S den Hollander, C A L Ruivenkamp, B Isidor, C Le Caignec, R Zannolli, M Mucciolo, A Renieri, F Mari, B-M Anderlid, J Andrieux, A Dieux, N Tommerup, I Bach. Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. Clinical genetics. vol 82. issue 3. 2013-07-05. PMID:21801163. |
corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of arid1b. |
2013-07-05 |
2023-08-12 |
human |
| C Halgren, S Kjaergaard, M Bak, C Hansen, Z El-Schich, C M Anderson, K F Henriksen, H Hjalgrim, M Kirchhoff, E K Bijlsma, M Nielsen, N S den Hollander, C A L Ruivenkamp, B Isidor, C Le Caignec, R Zannolli, M Mucciolo, A Renieri, F Mari, B-M Anderlid, J Andrieux, A Dieux, N Tommerup, I Bach. Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. Clinical genetics. vol 82. issue 3. 2013-07-05. PMID:21801163. |
corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of arid1b. |
2013-07-05 |
2023-08-12 |
human |
| C Halgren, S Kjaergaard, M Bak, C Hansen, Z El-Schich, C M Anderson, K F Henriksen, H Hjalgrim, M Kirchhoff, E K Bijlsma, M Nielsen, N S den Hollander, C A L Ruivenkamp, B Isidor, C Le Caignec, R Zannolli, M Mucciolo, A Renieri, F Mari, B-M Anderlid, J Andrieux, A Dieux, N Tommerup, I Bach. Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. Clinical genetics. vol 82. issue 3. 2013-07-05. PMID:21801163. |
phenotype-genotype comparison of the translocation patient to seven unpublished patients with various sized deletions encompassing arid1b confirms that haploinsufficiency of arid1b is associated with cc abnormalities, intellectual disability, severe speech impairment, and autism. |
2013-07-05 |
2023-08-12 |
human |
| Arnau Busquets-Garcia, Maria Gomis-González, Thomas Guegan, Carmen Agustín-Pavón, Antoni Pastor, Susana Mato, Alberto Pérez-Samartín, Carlos Matute, Rafael de la Torre, Mara Dierssen, Rafael Maldonado, Andrés Ozait. Targeting the endocannabinoid system in the treatment of fragile X syndrome. Nature medicine. vol 19. issue 5. 2013-07-03. PMID:23542787. |
fragile x syndrome (fxs), the most common monogenic cause of inherited intellectual disability and autism, is caused by the silencing of the fmr1 gene, leading to the loss of fragile x mental retardation protein (fmrp), a synaptically expressed rna-binding protein regulating translation. |
2013-07-03 |
2023-08-12 |
mouse |
| Christina Henderson, Lasani Wijetunge, Mika Nakamoto Kinoshita, Matthew Shumway, Rebecca S Hammond, Friso R Postma, Christopher Brynczka, Roger Rush, Alexia Thomas, Richard Paylor, Stephen T Warren, Peter W Vanderklish, Peter C Kind, Randall L Carpenter, Mark F Bear, Aileen M Heal. Reversal of disease-related pathologies in the fragile X mouse model by selective activation of GABAB receptors with arbaclofen. Science translational medicine. vol 4. issue 152. 2013-06-27. PMID:22993295. |
fragile x syndrome (fxs), the most common inherited cause of intellectual disability and autism, results from the transcriptional silencing of fmr1 and loss of the mrna translational repressor protein fragile x mental retardation protein (fmrp). |
2013-06-27 |
2023-08-12 |
mouse |
| Alison Millson, Danielle Lagrave, Mary J H Willis, Leslie R Rowe, Elaine Lyon, Sarah T Sout. Chromosomal loss of 3q26.3-3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability. American journal of medical genetics. Part A. vol 158A. issue 1. 2013-06-20. PMID:22106001. |
mutations in neurexin 1 (nrxn1) as well as two other members of the neuroligin family, nlgn3 and nlgn4, have been associated with autism and mutations in nlgn4 have also been associated with intellectual disability, seizures, and eeg abnormalities. |
2013-06-20 |
2023-08-12 |
Not clear |
| Bridget M Dolan, Sergio G Duron, David A Campbell, Benedikt Vollrath, B S Shankaranarayana Rao, Hui-Yeon Ko, Gregory G Lin, Arvind Govindarajan, Se-Young Choi, Susumu Tonegaw. Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by the small-molecule PAK inhibitor FRAX486. Proceedings of the National Academy of Sciences of the United States of America. vol 110. issue 14. 2013-06-11. PMID:23509247. |
fragile x syndrome (fxs) is the most common inherited form of autism and intellectual disability and is caused by the silencing of a single gene, fragile x mental retardation 1 (fmr1). |
2013-06-11 |
2023-08-12 |
mouse |