| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Gina E Elsen, Rebecca D Hodge, Francesco Bedogni, Ray A M Daza, Branden R Nelson, Naoko Shiba, Steven L Reiner, Robert F Hevne. The protomap is propagated to cortical plate neurons through an Eomes-dependent intermediate map. Proceedings of the National Academy of Sciences of the United States of America. vol 110. issue 10. 2013-05-02. PMID:23431145. |
in humans, pax6, eomes, and tbr1 have been linked to intellectual disability and autism. |
2013-05-02 |
2023-08-12 |
Not clear |
| Loreto Martorell, Mireia Tondo, Ferrán Garcia-Fructuoso, Montserrat Naudo, Cayetano Alegre, Josep Gamez, Jordi Genovés, Pilar Po. Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia. Clinical rheumatology. vol 31. issue 11. 2013-04-24. PMID:22903700. |
the early detection of premutation carriers for the fmr1 gene among individuals diagnosed with fibromyalgia is important and would be helpful in correct genetic counseling of patients and their families, who may be at risk of having children with fragile x syndrome, the most common known cause of inherited intellectual disability and autism. |
2013-04-24 |
2023-08-12 |
Not clear |
| Erik G Puffenberger, Robert N Jinks, Heng Wang, Baozhong Xin, Christopher Fiorentini, Eric A Sherman, Dominick Degrazio, Calvin Shaw, Carrie Sougnez, Kristian Cibulskis, Stacey Gabriel, Richard I Kelley, D Holmes Morton, Kevin A Straus. A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder. Human mutation. vol 33. issue 12. 2013-04-16. PMID:23065719. |
the phenotypic correlation with the mouse herc1 and herc2 mutants as well as the phenotypic overlap with angelman syndrome provide further evidence that pathogenic changes in herc2 are associated with nonsyndromic intellectual disability, autism, and gait disturbance. |
2013-04-16 |
2023-08-12 |
mouse |
| Gea Beunders, Els Voorhoeve, Christelle Golzio, Luba M Pardo, Jill A Rosenfeld, Michael E Talkowski, Ingrid Simonic, Anath C Lionel, Sarah Vergult, Robert E Pyatt, Jiddeke van de Kamp, Aggie Nieuwint, Marjan M Weiss, Patrizia Rizzu, Lucilla E N I Verwer, Rosalina M L van Spaendonk, Yiping Shen, Bai-lin Wu, Tingting Yu, Yongguo Yu, Colby Chiang, James F Gusella, Amelia M Lindgren, Cynthia C Morton, Ellen van Binsbergen, Saskia Bulk, Els van Rossem, Olivier Vanakker, Ruth Armstrong, Soo-Mi Park, Lynn Greenhalgh, Una Maye, Nicholas J Neill, Kristin M Abbott, Susan Sell, Roger Ladda, Darren M Farber, Patricia I Bader, Tom Cushing, Joanne M Drautz, Laura Konczal, Patricia Nash, Emily de Los Reyes, Melissa T Carter, Elizabeth Hopkins, Christian R Marshall, Lucy R Osborne, Karen W Gripp, Devon Lamb Thrush, Sayaka Hashimoto, Julie M Gastier-Foster, Caroline Astbury, Bauke Ylstra, Hanne Meijers-Heijboer, Danielle Posthuma, Björn Menten, Geert Mortier, Stephen W Scherer, Evan E Eichler, Santhosh Girirajan, Nicholas Katsanis, Alexander J Groffen, Erik A Sisterman. Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. American journal of human genetics. vol 92. issue 2. 2013-04-04. PMID:23332918. |
genomic rearrangements involving auts2 (7q11.22) are associated with autism and intellectual disability (id), although evidence for causality is limited. |
2013-04-04 |
2023-08-12 |
human |
| Ozlem Bozdagi, Takeshi Sakurai, Nathan Dorr, Marion Pilorge, Nagahide Takahashi, Joseph D Buxbau. Haploinsufficiency of Cyfip1 produces fragile X-like phenotypes in mice. PloS one. vol 7. issue 8. 2013-03-22. PMID:22900020. |
copy number variation (cnv) at the 15q11.2 region, which includes a gene that codes for cyfip1 (cytoplasmic fmr1 interacting protein 1), has been implicated in autism, intellectual disability and additional neuropsychiatric phenotypes. |
2013-03-22 |
2023-08-12 |
mouse |
| George N Christodoulou, Dimitris N Ploumpidis, Nikos G Christodoulou, Dimitris C Anagnostopoulo. The state of psychiatry in Greece. International review of psychiatry (Abingdon, England). vol 24. issue 4. 2013-02-14. PMID:22950768. |
however, sectorization, development of primary care policies, inter-sectoral communication and long-range planning have not been achieved and deficiencies in the provision of care for children, adolescents, old people, individuals with autism, with intellectual disabilities and with eating disorders as well as deficiencies in forensic psychiatric services have been identified. |
2013-02-14 |
2023-08-12 |
Not clear |
| Sara Ricciardi, Federica Ungaro, Melanie Hambrock, Nils Rademacher, Gilda Stefanelli, Dario Brambilla, Alessandro Sessa, Cinzia Magagnotti, Angela Bachi, Elisa Giarda, Chiara Verpelli, Charlotte Kilstrup-Nielsen, Carlo Sala, Vera M Kalscheuer, Vania Broccol. CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons. Nature cell biology. vol 14. issue 9. 2013-02-06. PMID:22922712. |
mutations of the cyclin-dependent kinase-like 5 (cdkl5) and netrin-g1 (ntng1) genes cause a severe neurodevelopmental disorder with clinical features that are closely related to rett syndrome, including intellectual disability, early-onset intractable epilepsy and autism. |
2013-02-06 |
2023-08-12 |
mouse |
| Claire Bacon, Gudrun A Rappol. The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders. Human genetics. vol 131. issue 11. 2013-01-08. PMID:22736078. |
however, in the last few years, novel rare disruptions in foxp1 have been reported in multiple cases of cognitive dysfunction, including intellectual disability and autism spectrum disorder, together with language impairment. |
2013-01-08 |
2023-08-12 |
Not clear |
| Emmilia H Tan, Abdul Aziz M Yusoff, Jafri M Abdullah, Salmi A Raza. Generalized epilepsy with febrile seizure plus (GEFS+) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient. Journal of pediatric neurosciences. vol 7. issue 2. 2012-12-19. PMID:23248692. |
the mutation identified in this patient is located in the pore-forming loop of scn1a and this case report suggests missense mutation in pore-forming loop causes generalized epilepsy with febrile seizure plus (gefs+) with clinically more severe neurologic phenotype including intellectual disabilities (mental retardation and autism features) and neuropsychiatric disease (anxiety disorder). |
2012-12-19 |
2023-08-12 |
Not clear |
| S M Goebel-Goody, E D Wilson-Wallis, S Royston, S M Tagliatela, J R Naegele, P J Lombros. Genetic manipulation of STEP reverses behavioral abnormalities in a fragile X syndrome mouse model. Genes, brain, and behavior. vol 11. issue 5. 2012-11-20. PMID:22405502. |
fragile x syndrome (fxs), the most common inherited form of intellectual disability and prevailing known genetic basis of autism, is caused by an expansion in the fmr1 gene that prevents transcription and translation of fragile x mental retardation protein (fmrp). |
2012-11-20 |
2023-08-12 |
mouse |
| b' Irene Madrigal, Laia Rodr\\xc3\\xadguez-Revenga, Mar Xuncl\\xc3\\xa0, Montserrat Mil\\xc3\\xa. 15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism. Gene. vol 508. issue 1. 2012-11-08. PMID:22842191.' |
15q11.2 microdeletion and fmr1 premutation in a family with intellectual disabilities and autism. |
2012-11-08 |
2023-08-12 |
Not clear |
| Asha L Bhakar, Gül Dölen, Mark F Bea. The pathophysiology of fragile X (and what it teaches us about synapses). Annual review of neuroscience. vol 35. 2012-11-07. PMID:22483044. |
fragile x is the most common known inherited cause of intellectual disability and autism, and it typically results from transcriptional silencing of fmr1 and loss of the encoded protein, fmrp (fragile x mental retardation protein). |
2012-11-07 |
2023-08-12 |
human |
| Benjamin Morris, Cécile Etoubleau, Sylvie Bourthoumieu, Sandrine Reynaud-Perrine, Cécile Laroche, Aziza Lebbar, Catherine Yardin, Sarah H Else. Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome. American journal of medical genetics. Part A. vol 158A. issue 8. 2012-11-05. PMID:22753018. |
mutation or deletion of hdac4 causes brachydactyly mental retardation syndrome (bdmr), a disorder that includes intellectual disability, behavioral abnormalities, autism spectrum disorder, and craniofacial and skeletal anomalies, including brachydactyly type e. we present a case of familial bdmr, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype. |
2012-11-05 |
2023-08-12 |
human |
| Gaia Novarino, Paul El-Fishawy, Hulya Kayserili, Nagwa A Meguid, Eric M Scott, Jana Schroth, Jennifer L Silhavy, Majdi Kara, Rehab O Khalil, Tawfeg Ben-Omran, A Gulhan Ercan-Sencicek, Adel F Hashish, Stephan J Sanders, Abha R Gupta, Hebatalla S Hashem, Dietrich Matern, Stacey Gabriel, Larry Sweetman, Yasmeen Rahimi, Robert A Harris, Matthew W State, Joseph G Gleeso. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science (New York, N.Y.). vol 338. issue 6105. 2012-10-24. PMID:22956686. |
we have identified inactivating mutations in the gene bckdk (branched chain ketoacid dehydrogenase kinase) in consanguineous families with autism, epilepsy, and intellectual disability. |
2012-10-24 |
2023-08-12 |
mouse |
| Gaia Novarino, Paul El-Fishawy, Hulya Kayserili, Nagwa A Meguid, Eric M Scott, Jana Schroth, Jennifer L Silhavy, Majdi Kara, Rehab O Khalil, Tawfeg Ben-Omran, A Gulhan Ercan-Sencicek, Adel F Hashish, Stephan J Sanders, Abha R Gupta, Hebatalla S Hashem, Dietrich Matern, Stacey Gabriel, Larry Sweetman, Yasmeen Rahimi, Robert A Harris, Matthew W State, Joseph G Gleeso. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science (New York, N.Y.). vol 338. issue 6105. 2012-10-24. PMID:22956686. |
thus, autism presenting with intellectual disability and epilepsy caused by bckdk mutations represents a potentially treatable syndrome. |
2012-10-24 |
2023-08-12 |
mouse |
| Linh Duong, Laura L Klitten, Rikke S Møller, Andrés Ingason, Klaus D Jakobsen, Celina Skjødt, Michael Didriksen, Helle Hjalgrim, Thomas Werge, Niels Tommeru. Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. vol 159B. issue 3. 2012-10-05. PMID:22337556. |
mutation of the neurexin1-gene, nrxn1, interrupting the expression of neurexin1 has been associated with schizophrenia, autism, and intellectual disability. |
2012-10-05 |
2023-08-12 |
Not clear |
| Patrícia Bs Celestino-Soper, Cindy Skinner, Richard Schroer, Patricia Eng, Jayant Shenai, Malgorzata Mj Nowaczyk, Deborah Terespolsky, Donna Cushing, Gayle S Patel, Ladonna Immken, Alecia Willis, Joanna Wiszniewska, Reuben Matalon, Jill A Rosenfeld, Roger E Stevenson, Sung-Hae L Kang, Sau Wai Cheung, Arthur L Beaudet, Pawel Stankiewic. Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders. Molecular cytogenetics. vol 5. 2012-10-02. PMID:22480366. |
we used array comparative genomic hybridization in a south carolina autism project (scap) cohort of 97 subjects with autism spectrum disorders (asds) and identified an ~ 5.4 mb deletion on chromosome 6p22.3-p23 in a 15-year-old patient with intellectual disability and asds. |
2012-10-02 |
2023-08-12 |
human |
| Karrie A Shogren, Anthony J Plotne. Transition planning for students with intellectual disability, autism, or other disabilities: data from the National Longitudinal Transition Study-2. Intellectual and developmental disabilities. vol 50. issue 1. 2012-06-18. PMID:22316223. |
transition planning for students with intellectual disability, autism, or other disabilities: data from the national longitudinal transition study-2. |
2012-06-18 |
2023-08-12 |
human |
| Karrie A Shogren, Anthony J Plotne. Transition planning for students with intellectual disability, autism, or other disabilities: data from the National Longitudinal Transition Study-2. Intellectual and developmental disabilities. vol 50. issue 1. 2012-06-18. PMID:22316223. |
to compare the status of transition planning for students with intellectual disability, autism, or other disabilities, we used data from the national longitudinal transition study-2, a federally funded, national study of the secondary and postschool experiences of students with disabilities. |
2012-06-18 |
2023-08-12 |
human |
| C M Durand, J Perroy, F Loll, D Perrais, L Fagni, T Bourgeron, M Montcouquiol, N San. SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism. Molecular psychiatry. vol 17. issue 1. 2012-05-08. PMID:21606927. |
genetic mutations of shank3 have been reported in patients with intellectual disability, autism spectrum disorder (asd) and schizophrenia. |
2012-05-08 |
2023-08-12 |
Not clear |