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A 22q13.33 duplication harbouring the SHANK3 gene: does it cause neuropsychiatric disorders?
Johannessen M, Haugen IB, Bakken TL, Braaten Ø. Johannessen M, et al. BMJ Case Rep. 2019 Nov 2;12(11):e228258. doi: 10.1136/bcr-2018-228258. BMJ Case Rep. 2019. PMID: 31678916
A young man with neuropsychiatric problems has a small 22q13.33 duplication. We suggest this causes his condition. His disorder may represent a 22q13.33 behavioural phenotype. ...The small size helps focus on a critical region for a 22q13.33 duplica …
A young man with neuropsychiatric problems has a small 22q13.33 duplication. We suggest this causes his condition. His disorde …
Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature.
Fontes MI, Santos AP, Molck MC, Simioni M, Nascimento DL, Andrade AK, Rosenberg C, Krepischi AC, Appenzeller S, Monlleó IL, Gil-da-Silva-Lopes VL. Fontes MI, et al. Am J Med Genet A. 2016 Mar;170(3):766-72. doi: 10.1002/ajmg.a.37494. Epub 2015 Dec 7. Am J Med Genet A. 2016. PMID: 26638882 Review.
This article reports a patient with a de novo ∼ 9.32 Mb duplication at 16p13.3 and a ∼ 71 Kb deletion at 22q13.33. The patient was followed from 1 month old to 3 years and 8 months of age and presented typical features of the 16p13.3 duplication syndrome. ...
This article reports a patient with a de novo ∼ 9.32 Mb duplication at 16p13.3 and a ∼ 71 Kb deletion at 22q13.33. The patient …
Mitochondrial disease in 22q13 duplication syndrome.
Frye RE. Frye RE. J Child Neurol. 2012 Jul;27(7):942-9. doi: 10.1177/0883073811429858. Epub 2012 Feb 28. J Child Neurol. 2012. PMID: 22378673
Both copy number changes in the 22q13 region and mitochondrial disease have been associated with autism spectrum disorder. In this report, for the first time, a girl with autism spectrum disorder is described who exhibits both mitochondrial disease and a 22q13.1-33 …
Both copy number changes in the 22q13 region and mitochondrial disease have been associated with autism spectrum disorder. In this re …
Clinical and molecular characterization of three genomic rearrangements at chromosome 22q13.3 associated with autism spectrum disorder.
Chen CH, Chen HI, Liao HM, Chen YJ, Fang JS, Lee KF, Gau SS. Chen CH, et al. Psychiatr Genet. 2017 Feb;27(1):23-33. doi: 10.1097/YPG.0000000000000151. Psychiatr Genet. 2017. PMID: 27846046
Three unrelated male patients were found to carry three different CNVs at 22q13.3, respectively, including a de novo terminal deletion of ∼106 kb at 22q13.33, a de novo interstitial duplication of ∼1.8 Mb at 22q13.32-q13.33, and a microdeletion of ∼147 …
Three unrelated male patients were found to carry three different CNVs at 22q13.3, respectively, including a de novo terminal deletio …
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation.
Pramparo T, de Gregori M, Gimelli S, Ciccone R, Frondizi D, Liehr T, Pellacani S, Masi G, Brovedani P, Zuffardi O, Guerrini R. Pramparo T, et al. Am J Med Genet A. 2008 Jul 1;146A(13):1754-60. doi: 10.1002/ajmg.a.32326. Am J Med Genet A. 2008. PMID: 18546282
We identified a duplication of 22q13.1-q13.2 in a 10-year-old girl and demonstrated that this duplication was the recombinant product of a maternal intrachromosomal insertion. ...Our findings suggest that in both seemingly de novo deletions and duplication …
We identified a duplication of 22q13.1-q13.2 in a 10-year-old girl and demonstrated that this duplication was the recom …
Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.
Riley KN, Catalano LM, Bernat JA, Adams SD, Martin DM, Lalani SR, Patel A, Burnside RD, Innis JW, Rudd MK. Riley KN, et al. Am J Med Genet A. 2015 Nov;167A(11):2664-73. doi: 10.1002/ajmg.a.37269. Epub 2015 Jul 31. Am J Med Genet A. 2015. PMID: 26227573
Subjects with 2q11.2 deletions often exhibit DD, speech delay, and attention deficit hyperactivity disorder (ADHD), whereas those with 2q11.2 duplications have DD, gastroesophageal reflux, and short stature. ...In the 2q13 duplication cohort, we report dysmorphic fe …
Subjects with 2q11.2 deletions often exhibit DD, speech delay, and attention deficit hyperactivity disorder (ADHD), whereas those with 2q11. …
SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties.
Han K, Holder JL Jr, Schaaf CP, Lu H, Chen H, Kang H, Tang J, Wu Z, Hao S, Cheung SW, Yu P, Sun H, Breman AM, Patel A, Lu HC, Zoghbi HY. Han K, et al. Nature. 2013 Nov 7;503(7474):72-7. doi: 10.1038/nature12630. Epub 2013 Oct 23. Nature. 2013. PMID: 24153177 Free PMC article.
However, SHANK3 overexpression per se has not been established as a cause of human disorders because 22q13 duplications involve several genes. Here we report that Shank3 transgenic mice modelling a human SHANK3 duplication exhibit manic-like behaviour and sei …
However, SHANK3 overexpression per se has not been established as a cause of human disorders because 22q13 duplications involv …
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).
Kurtas N, Arrigoni F, Errichiello E, Zucca C, Maghini C, D'Angelo MG, Beri S, Giorda R, Bertuzzo S, Delledonne M, Xumerle L, Rossato M, Zuffardi O, Bonaglia MC. Kurtas N, et al. J Med Genet. 2018 Apr;55(4):269-277. doi: 10.1136/jmedgenet-2017-105125. Epub 2018 Jan 29. J Med Genet. 2018. PMID: 29378768 Free PMC article.
Its wide phenotypic variation is attributed partly to the type and size of 22q13 genomic lesion (deletion, unbalanced translocation, ring chromosome), partly to additional undefined factors. ...RESULTS: WGS confirmed the deletion and highlighted inversion and displaced ord …
Its wide phenotypic variation is attributed partly to the type and size of 22q13 genomic lesion (deletion, unbalanced translocation, …
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Vetrini F, et al. Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Genome Med. 2019. PMID: 30819258 Free PMC article.
TCF20 encodes a transcriptional co-regulator structurally related to RAI1, the dosage-sensitive gene responsible for Smith-Magenis syndrome (deletion/haploinsufficiency) and Potocki-Lupski syndrome (duplication/triplosensitivity). ...
TCF20 encodes a transcriptional co-regulator structurally related to RAI1, the dosage-sensitive gene responsible for Smith-Magenis syndrome …
Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation.
Wu Y, Ji T, Wang J, Xiao J, Wang H, Li J, Gao Z, Yang Y, Cai B, Wang L, Zhou Z, Tian L, Wang X, Zhong N, Qin J, Wu X, Jiang Y. Wu Y, et al. BMC Med Genet. 2010 May 11;11:72. doi: 10.1186/1471-2350-11-72. BMC Med Genet. 2010. PMID: 20459802 Free PMC article.
RESULTS: The submicroscopic subtelomeric aberrations were identified in 23 patients, with a detection rate of 5.1%. 16 patients had simple deletions, 2 had simple duplications and 5 with both deletions and duplications. ...Duplicated regions were 0.26 Mb to 1 …
RESULTS: The submicroscopic subtelomeric aberrations were identified in 23 patients, with a detection rate of 5.1%. 16 patients had simple d …
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