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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1999 1
2001 3
2003 1
2004 3
2005 5
2006 11
2007 14
2008 9
2009 16
2010 13
2011 13
2012 28
2013 26
2014 30
2015 31
2016 33
2017 61
2018 41
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2023 32
2024 15

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423 results

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Page 1
Transcriptional linkage analysis with in vivo AAV-Perturb-seq.
Santinha AJ, Klingler E, Kuhn M, Farouni R, Lagler S, Kalamakis G, Lischetti U, Jabaudon D, Platt RJ. Santinha AJ, et al. Nature. 2023 Oct;622(7982):367-375. doi: 10.1038/s41586-023-06570-y. Epub 2023 Sep 20. Nature. 2023. PMID: 37730998 Free PMC article.
We applied AAV-Perturb-seq using gene editing and transcriptional inhibition to systematically dissect the phenotypic landscape underlying 22q11.2 deletion syndrome(3,4) genes in the adult mouse brain prefrontal cortex. We identified three 22q11.2-link …
We applied AAV-Perturb-seq using gene editing and transcriptional inhibition to systematically dissect the phenotypic landscape underlying …
22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients.
Lee CL, Lin SM, Chen MR, Chuang CK, Chiu HC, Tu YR, Lo YT, Chang YH, Lin HY, Lin SP. Lee CL, et al. Int J Med Sci. 2023 Sep 4;20(11):1377-1385. doi: 10.7150/ijms.86773. eCollection 2023. Int J Med Sci. 2023. PMID: 37790845 Free PMC article.
Background: 22q11.2 deletion syndrome (22q11.2DS) is a microdeletion syndrome exhibiting significant clinical phenotype variability. ...Furthermore, 74.1% of the patients had a congenital heart defect, the most common of which was tetralogy of Fallot ( …
Background: 22q11.2 deletion syndrome (22q11.2DS) is a microdeletion syndrome exhibiting significant clinical ph …
MicroRNAs in the Onset of Schizophrenia.
Thomas KT, Zakharenko SS. Thomas KT, et al. Cells. 2021 Oct 6;10(10):2679. doi: 10.3390/cells10102679. Cells. 2021. PMID: 34685659 Free PMC article. Review.
Next, we examine evidence implicating miRNAs in the conversion to psychosis, including a schizophrenia-associated single nucleotide polymorphism in MIR137HG that is among the strongest known predictors of age of onset in patients with schizophrenia. Finally, we examine how …
Next, we examine evidence implicating miRNAs in the conversion to psychosis, including a schizophrenia-associated single nucleotide polymorp …
Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.
Borlot F, Regan BM, Bassett AS, Stavropoulos DJ, Andrade DM. Borlot F, et al. JAMA Neurol. 2017 Nov 1;74(11):1301-1311. doi: 10.1001/jamaneurol.2017.1775. JAMA Neurol. 2017. PMID: 28846756 Free PMC article.
Pathogenicity of CNVs was assessed based on the American College of Medical Genetics guidelines. The Residual Variation Intolerance Score was used to evaluate genes within the identified CNVs that could play a role in each patient's phenotype. ...
Pathogenicity of CNVs was assessed based on the American College of Medical Genetics guidelines. The Residual Variation Intolerance Score …
Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications.
Bhattarai D, McGinn DE, Crowley TB, Giunta V, Gaiser K, Zackai EH, Emanuel BS, Heimall J, Jyonouchi S, Lee J, Sun D, McDonald-McGinn DM, Sullivan KE. Bhattarai D, et al. J Clin Immunol. 2023 May;43(4):794-807. doi: 10.1007/s10875-023-01443-5. Epub 2023 Feb 3. J Clin Immunol. 2023. PMID: 36735193
PURPOSE: Duplication of chromosome 22q11.2 due to meiotic non-allelic homologous recombination results in a distinct syndrome, chromosome 22q11.2 duplication syndrome that has some overlapping phenotypic features with the corresponding 22q11.2 deletion syn …
PURPOSE: Duplication of chromosome 22q11.2 due to meiotic non-allelic homologous recombination results in a distinct syndrome, chromosome 22 …
The 22q11.2 deletion syndrome as a window into complex neuropsychiatric disorders over the lifespan.
Jonas RK, Montojo CA, Bearden CE. Jonas RK, et al. Biol Psychiatry. 2014 Mar 1;75(5):351-60. doi: 10.1016/j.biopsych.2013.07.019. Epub 2013 Aug 28. Biol Psychiatry. 2014. PMID: 23992925 Free PMC article. Review.
Evidence is rapidly accumulating that rare, recurrent copy number variants represent large effect risk factors for neuropsychiatric disorders. 22q11.2 deletion syndrome (22q11DS) (velocardiofacial syndrome or DiGeorge syndrome) is the most common known …
Evidence is rapidly accumulating that rare, recurrent copy number variants represent large effect risk factors for neuropsychiatric disorder …
Neurodevelopmental outcome in 22q11.2 deletion syndrome and management.
Swillen A, Moss E, Duijff S. Swillen A, et al. Am J Med Genet A. 2018 Oct;176(10):2160-2166. doi: 10.1002/ajmg.a.38709. Epub 2018 Apr 25. Am J Med Genet A. 2018. PMID: 29696780 Free PMC article. Review.
The 22q11.2 deletion syndrome (22q11.2 DS) places affected individuals at an increased risk for neurodevelopmental/cognitive, behavioral and social-emotional difficulties. ...Identifying risk and protective/resilience factors that can be detected in ea …
The 22q11.2 deletion syndrome (22q11.2 DS) places affected individuals at an increased risk for neurodevelopment …
Obesity in adults with 22q11.2 deletion syndrome.
Voll SL, Boot E, Butcher NJ, Cooper S, Heung T, Chow EW, Silversides CK, Bassett AS. Voll SL, et al. Genet Med. 2017 Feb;19(2):204-208. doi: 10.1038/gim.2016.98. Epub 2016 Aug 18. Genet Med. 2017. PMID: 27537705 Free PMC article.
PURPOSE: To characterize the prevalence of and contributing factors to adult obesity in the most common recurrent copy-number variation (CNV), 22q11.2 deletion, given that other rare CNVs are known to have obesity phenotypes. METHODS: In 207 adults with 22q11.2 d …
PURPOSE: To characterize the prevalence of and contributing factors to adult obesity in the most common recurrent copy-number variation (CNV …
Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors.
Cillo F, Coppola E, Habetswallner F, Cecere F, Pignata L, Toriello E, De Rosa A, Grilli L, Ammendola A, Salerno P, Romano R, Cirillo E, Merla G, Riccio A, Pignata C, Giardino G. Cillo F, et al. Genes (Basel). 2024 Feb 29;15(3):321. doi: 10.3390/genes15030321. Genes (Basel). 2024. PMID: 38540380 Free PMC article. Review.
Initially described as a triad of immunodeficiency, congenital heart defects and hypoparathyroidism, 22q11.2 deletion syndrome (22q11.2DS) now encompasses a great amount of abnormalities involving different systems. ...However, the hemizygosity of the …
Initially described as a triad of immunodeficiency, congenital heart defects and hypoparathyroidism, 22q11.2 deletion …
Update on the 22q11.2 deletion syndrome and its relevance to schizophrenia.
Van L, Boot E, Bassett AS. Van L, et al. Curr Opin Psychiatry. 2017 May;30(3):191-196. doi: 10.1097/YCO.0000000000000324. Curr Opin Psychiatry. 2017. PMID: 28230630 Review.
PURPOSE OF REVIEW: Schizophrenia occurs in 25% of individuals with 22q11.2 deletion syndrome (22q11.2DS), the strongest known molecular genetic risk factor for schizophrenia. ...Increased risks of obesity and of Parkinson's disease in 22q11.2DS warrant …
PURPOSE OF REVIEW: Schizophrenia occurs in 25% of individuals with 22q11.2 deletion syndrome (22q11.2DS), the st …
423 results