The NRG1 exon 11 missense variant is not associated with autism in the Central Valley of Costa Rica
- Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. O'Roak, Brian J; Deriziotis, Pelagia; Lee, Choli; Vives, Laura; Schwartz, Jerrod J; Girirajan, Santhosh; Karakoc, Emre; MacKenzie, Alexandra P; Ng, Sarah B; Baker, Carl; Rieder, Mark J; Nickerson, Deborah A; Bernier, Raphael; Fisher, Simon E; Shendure, Jay; Eichler, Evan E // Nature Genetics;Apr2012, Vol. 44 Issue 4, p471
A correction to the article "Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations," by Choli Lee and colleagues that was published in the 2011 issue is presented.
- CORRECTION. // Journal of Neurology, Neurosurgery & Psychiatry;Jun2005, Vol. 76 Issue 6, p892
Presents a correction to an article that was previously published in "Journal of Neurology Neurosurgery and Psychiatry" and was about typographical error in the primer sequence provided for exon 3.
- A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1Î±. Zahir, F. R.; Baross, A.; Delaney, A. D.; Eydoux, P.; Fernandes, N. D.; Pugh, T.; Marra, M. A.; Friedman, J. M. // Journal of Medical Genetics;Apr2008, Vol. 45 Issue 4, p239
The authors report a patient with mild mental retardation, autistic features, multiple vertebral malformations, and an unusual facial appearance who carries a de novo submicroscopic deletion of chromosome 2pl6.3. The patient's deletion is âˆ¼320 kb in size and includes only the part of the...
- Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. Butler, M. G.; Dasouki, M. J.; Zhou, X.-P.; Talebizadeh, Z.; Brown, M.; Takahashi, T. N.; Miles, J. H.; Wang, C. H.; Stratton, R.; Pilarski, R.; Eng, C. // Journal of Medical Genetics;Apr2005, Vol. 42 Issue 4, p318
The genetic aetiology of autism remains elusive. Occasionally, individuals with Cowden syndrome (a cancer syndrome) and other related hamartoma disorders such as Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Proteus-like conditions, are characterised by germline PTEN mutations, and...
- Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment. Ceroni, Fabiola; Simpson, Nuala H; Francks, Clyde; Baird, Gillian; Conti-Ramsden, Gina; Clark, Ann; Bolton, Patrick F; Hennessy, Elizabeth R; Donnelly, Peter; Bentley, David R; Martin, Hilary; Parr, Jeremy; Pagnamenta, Alistair T; Maestrini, Elena; Bacchelli, Elena; Fisher, Simon E; Newbury, Dianne F // European Journal of Human Genetics;Oct2014, Vol. 22 Issue 10, p1165
Specific language impairment (SLI), an unexpected failure to develop appropriate language skills despite adequate non-verbal intelligence, is a heterogeneous multifactorial disorder with a complex genetic basis. We identified a homozygous microdeletion of 21,379 bp in the ZNF277 gene...
- Mutation analysis of the NSD1 gene in patients with autism
spectrum disorders and macrocephaly. Buxbaum, Joseph D.; Cai, Guiqing; Nygren, Gudrun; Chaste, Pauline; Delorme, Richard; Goldsmith, Juliet; Råstam, Maria; Silverman, Jeremy M.; Hollander, Eric; Gillberg, Christopher; Leboyer, Marion; Betancur, Catalina // BMC Medical Genetics;2007 Supplement 1, Vol. 8, p68
Background: Sotos syndrome is an overgrowth syndrome characterized by macrocephaly, advanced bone age, characteristic facial features, and learning disabilities, caused by mutations or deletions of the NSD1 gene, located at 5q35. Sotos syndrome has been described in a number of patients with...
- Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders. Chia-Hsiang Chen; Chia-Chun Huang; Min-Chih Cheng; Yen-Nan Chiu; Wen-Che Tsai; Yu-Yu Wu; Shih-Kai Liu; Susan Shur-Fen Gau // Molecular Autism;2014, Vol. 5 Issue 1, p1
Background GABRB3 is a position candidate gene at chromosome 15q12 that has been implicated in the neurobiology of autism spectrum disorders (ASD). The aim of this study was to examine the genetic association of GABRB3 with ASD. Methods The sample consisted of 356 patients with clinical...
- A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Liu, Hong-Xiang; Cartegni, Luca; Zhang, Michael Q.; Krainer, Adrian R. // Nature Genetics;Jan2001, Vol. 27 Issue 1, p55
Point mutations can generate defective and sometimes harmful proteins. The nonsense-mediated mRNA decay (NMD) pathway minimizes the potential damage caused by nonsense mutations. In-frame nonsense codons located at a minimum distance upstream of the last exon-exon junction are recognized as...
- Erratum to: Transcription start sites and usage of the first exon of mouse Foxp3 gene. Fujita, Toshitsugu; Fujii, Hodaka // Molecular Biology Reports;Oct2012, Vol. 39 Issue 10, p9835
A correction to the article "Transcription Start Sites and Usage of the First Exon of Mouse Foxp3 Gene" that was published online on July 12, 2012.