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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2019 | 3 |
2021 | 1 |
2022 | 1 |
2023 | 1 |
2024 | 0 |
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Page 1
CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome.
Am J Med Genet A. 2019 Apr;179(4):659-662. doi: 10.1002/ajmg.a.61068. Epub 2019 Feb 15.
Am J Med Genet A. 2019.
PMID: 30768759
A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome.
Alesi V, Loddo S, Calì F, Orlando V, Genovese S, Ferretti D, Calacci C, Calvieri G, Falasca R, Ulgheri L, Drago F, Dallapiccola B, Baban A, Novelli A.
Alesi V, et al.
Am J Med Genet A. 2019 Aug;179(8):1615-1621. doi: 10.1002/ajmg.a.61217. Epub 2019 May 30.
Am J Med Genet A. 2019.
PMID: 31145527
Review.
Item in Clipboard
CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features.
Uehara T, Tsuchihashi T, Yamada M, Suzuki H, Takenouchi T, Kosaki K.
Uehara T, et al.
Am J Med Genet A. 2019 Dec;179(12):2506-2509. doi: 10.1002/ajmg.a.61356. Epub 2019 Sep 11.
Am J Med Genet A. 2019.
PMID: 31512373
Review.
No abstract available.
Item in Clipboard
CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures.
Royer-Bertrand B, Cisarova K, Niel Bütschi F, Foletti G, Guinchat V, Tran C, Superti-Furga A, Good JM.
Royer-Bertrand B, et al.
Am J Med Genet A. 2021 Aug;185(8):2602-2606. doi: 10.1002/ajmg.a.62343. Epub 2021 May 21.
Am J Med Genet A. 2021.
PMID: 34018673
Review.
No abstract available.
Item in Clipboard
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.
Niceta M, Pizzi S, Inzana F, Peron A, Bakhtiari S, Nizon M, Levy J, Mancini C, Cogné B, Radio FC, Agolini E, Cocciadiferro D, Novelli A, Salih MA, Recalcati MP, Arancio R, Besnard M, Tabet AC, Kruer MC, Priolo M, Dallapiccola B, Tartaglia M.
Niceta M, et al.
Clin Genet. 2023 Feb;103(2):156-166. doi: 10.1111/cge.14247. Epub 2022 Nov 24.
Clin Genet. 2023.
PMID: 36224108
Free PMC article.
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