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Quoted phrase not found in phrase index: "Autism, susceptibility to, 15"
Page 1
Etiology of Autism Spectrum Disorders and Autistic Traits Over Time.
Taylor MJ, Rosenqvist MA, Larsson H, Gillberg C, D'Onofrio BM, Lichtenstein P, Lundström S. Taylor MJ, et al. JAMA Psychiatry. 2020 Sep 1;77(9):936-943. doi: 10.1001/jamapsychiatry.2020.0680. JAMA Psychiatry. 2020. PMID: 32374377 Free PMC article.
IMPORTANCE: The frequency with which autism spectrum disorders (ASDs) are diagnosed has shown a marked increase in recent years. ...OUTCOMES: We assessed whether the genetric and environment variance underlying autistic traits changed across birth cohorts and examin …
IMPORTANCE: The frequency with which autism spectrum disorders (ASDs) are diagnosed has shown a marked increase in recent years. ...O …
Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus.
Paparella A, L'Abbate A, Palmisano D, Chirico G, Porubsky D, Catacchio CR, Ventura M, Eichler EE, Maggiolini FAM, Antonacci F. Paparella A, et al. Int J Mol Sci. 2023 Oct 31;24(21):15818. doi: 10.3390/ijms242115818. Int J Mol Sci. 2023. PMID: 37958807 Free PMC article.
The impact of segmental duplications on human evolution and disease is only just starting to unfold, thanks to advancements in sequencing technologies that allow for their discovery and precise genotyping. ...The increasing complexity of segmental duplication organization …
The impact of segmental duplications on human evolution and disease is only just starting to unfold, thanks to advancements in sequen …
Cis-regulatory mutations in human disease.
Epstein DJ. Epstein DJ. Brief Funct Genomic Proteomic. 2009 Jul;8(4):310-6. doi: 10.1093/bfgp/elp021. Epub 2009 Jul 29. Brief Funct Genomic Proteomic. 2009. PMID: 19641089 Free PMC article. Review.
Variation in gene expression is highly heritable and a significant determinant of human disease susceptibility. The diversity of human genetic diseases attributed, in whole or in part, to mutations in non-coding regulatory sequences is on the rise. Improvements in g …
Variation in gene expression is highly heritable and a significant determinant of human disease susceptibility. The diversity …
Genetic variations in evolutionary accelerated regions disrupt cognition in schizophrenia.
Bhattacharyya U, Bhatia T, Deshpande SN, Thelma BK. Bhattacharyya U, et al. Psychiatry Res. 2022 Aug;314:114586. doi: 10.1016/j.psychres.2022.114586. Epub 2022 May 13. Psychiatry Res. 2022. PMID: 35623238 Free PMC article.
We hypothesize that variants within HARs may alter such functions and thus contribute to disease pathogenesis. 49 systematically prioritized variants from 2737 genome-wide HARs were genotyped in a north-Indian schizophrenia cohort (331 cases, 235 controls). ...These genes …
We hypothesize that variants within HARs may alter such functions and thus contribute to disease pathogenesis. 49 systematically prio …
Autism as early expression of catatonia.
Dhossche DM. Dhossche DM. Med Sci Monit. 2004 Mar;10(3):RA31-9. Epub 2004 Mar 1. Med Sci Monit. 2004. PMID: 14976444 Review.
Neuroimaging studies show small cerebellar structures in both disorders. There is genetic evidence that susceptibility genes for autism and catatonia are located on the long arm of chromosome 15. Differences between autism and catatonia of age-of-onset, sympt …
Neuroimaging studies show small cerebellar structures in both disorders. There is genetic evidence that susceptibility genes for a …
Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes.
Costa CIS, da Silva Montenegro EM, Zarrei M, de Sá Moreira E, Silva IMW, de Oliveira Scliar M, Wang JYT, Zachi EC, Branco EV, da Costa SS, Lourenço NCV, Vianna-Morgante AM, Rosenberg C, Krepischi ACV, Scherer SW, Passos-Bueno MR. Costa CIS, et al. Clin Genet. 2022 Jan;101(1):134-141. doi: 10.1111/cge.14072. Epub 2021 Nov 15. Clin Genet. 2022. PMID: 34664255
Prediction of pathogenicity of rare copy number variations (CNVs), a genomic alteration known to contribute to the etiology of autism spectrum disorder (ASD), represents a serious limitation to interpreting genetic tests, particularly for genetic counseling p …
Prediction of pathogenicity of rare copy number variations (CNVs), a genomic alteration known to contribute to the etiology of aut …
Reduced social attention in autism is magnified by perceptual load in naturalistic environments.
Haskins AJ, Mentch J, Botch TL, Garcia BD, Burrows AL, Robertson CE. Haskins AJ, et al. Autism Res. 2022 Dec;15(12):2310-2323. doi: 10.1002/aur.2829. Epub 2022 Oct 7. Autism Res. 2022. PMID: 36207799 Free PMC article.
We demonstrate that reduced social attention is not a static signature of the autistic phenotype. Rather, group differences in social attention emerged with increasing perceptual load in naturalistic environments, and the susceptibility of social attention to percep …
We demonstrate that reduced social attention is not a static signature of the autistic phenotype. Rather, group differences in social …
A large population-based investigation into the genetics of susceptibility to gastrointestinal infections and the link between gastrointestinal infections and mental illness.
Nudel R, Appadurai V, Schork AJ, Buil A, Bybjerg-Grauholm J, Børglum AD, Daly MJ, Mors O, Hougaard DM, Mortensen PB, Werge T, Nordentoft M, Thompson WK, Benros ME. Nudel R, et al. Hum Genet. 2020 May;139(5):593-604. doi: 10.1007/s00439-020-02140-8. Epub 2020 Mar 9. Hum Genet. 2020. PMID: 32152699 Free PMC article.
The SNP heritability of susceptibility to gastrointestinal infections ranged from 3.7% to 6.4% on the liability scale. Significant correlations were found between gastrointestinal infections and the combined group of mental disorders (OR = 2.09; 95% CI: 1.82-2.4, P = 1.87 …
The SNP heritability of susceptibility to gastrointestinal infections ranged from 3.7% to 6.4% on the liability scale. Significant co …
Clinical and molecular characterization of COVID-19 hospitalized patients.
Benetti E, Giliberti A, Emiliozzi A, Valentino F, Bergantini L, Fallerini C, Anedda F, Amitrano S, Conticini E, Tita R, d'Alessandro M, Fava F, Marcantonio S, Baldassarri M, Bruttini M, Mazzei MA, Montagnani F, Mandalà M, Bargagli E, Furini S; GEN-COVID Multicenter Study; Renieri A, Mari F. Benetti E, et al. PLoS One. 2020 Nov 18;15(11):e0242534. doi: 10.1371/journal.pone.0242534. eCollection 2020. PLoS One. 2020. PMID: 33206719 Free PMC article.
We identified for each patient an average of 2.5 pathogenic mutations involved in virus infection susceptibility and pinpointing to one or more rare disorder(s). To our knowledge, this is the first report on WES and COVID-19. Our results suggest a combined model for …
We identified for each patient an average of 2.5 pathogenic mutations involved in virus infection susceptibility and pinpointing to o …
Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank.
Yap CX, Alvares GA, Henders AK, Lin T, Wallace L, Farrelly A, McLaren T, Berry J, Vinkhuyzen AAE, Trzaskowski M, Zeng J, Yang Y, Cleary D, Grove R, Hafekost C, Harun A, Holdsworth H, Jellett R, Khan F, Lawson L, Leslie J, Levis Frenk M, Masi A, Mathew NE, Muniandy M, Nothard M, Visscher PM, Dawson PA, Dissanayake C, Eapen V, Heussler HS, Whitehouse AJO, Wray NR, Gratten J. Yap CX, et al. Mol Autism. 2021 Feb 10;12(1):12. doi: 10.1186/s13229-020-00407-5. Mol Autism. 2021. PMID: 33568206 Free PMC article.
BACKGROUND: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition whose biological basis is yet to be elucidated. The Australian Autism Biobank (AAB) is an initiative of the Cooperative Research Centre for Living with Autism (Auti …
BACKGROUND: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition whose biological basis is yet to be eluci …
51 results