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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2018 | 4 |
2019 | 1 |
2021 | 1 |
2022 | 1 |
2024 | 0 |
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6 results
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Page 1
De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features.
J Hum Genet. 2018 Jul;63(8):919-922. doi: 10.1038/s10038-018-0464-5. Epub 2018 May 14.
J Hum Genet. 2018.
PMID: 29760529
De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype.
Derar N, Al-Hassnan ZN, Al-Owain M, Monies D, Abouelhoda M, Meyer BF, Moghrabi N, Alkuraya FS.
Derar N, et al.
Genet Med. 2019 Jan;21(1):185-188. doi: 10.1038/s41436-018-0014-8. Epub 2018 Jun 11.
Genet Med. 2019.
PMID: 29892088
Free article.
Item in Clipboard
Small 4p16.3 deletions: Three additional patients and review of the literature.
Bernardini L, Radio FC, Acquaviva F, Gorgone C, Postorivo D, Torres B, Alesi V, Magliozzi M, Lonardo F, Monica MD, Nardone AM, Cesario C, Mattina T, Scarano G, Dallapiccola B, Digilio MC, Novelli A.
Bernardini L, et al.
Am J Med Genet A. 2018 Nov;176(11):2501-2508. doi: 10.1002/ajmg.a.40512. Epub 2018 Sep 23.
Am J Med Genet A. 2018.
PMID: 30244530
Review.
Item in Clipboard
Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2).
Boczek NJ, Lahner CA, Nguyen TM, Ferber MJ, Hasadsri L, Thorland EC, Niu Z, Gavrilova RH.
Boczek NJ, et al.
Am J Med Genet A. 2018 Dec;176(12):2798-2802. doi: 10.1002/ajmg.a.40498. Epub 2018 Oct 22.
Am J Med Genet A. 2018.
PMID: 30345613
Review.
Item in Clipboard
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
Zanoni P, Steindl K, Sengupta D, Joset P, Bahr A, Sticht H, Lang-Muritano M, van Ravenswaaij-Arts CMA, Shinawi M, Andrews M, Attie-Bitach T, Maystadt I, Belnap N, Benoit V, Delplancq G, de Vries BBA, Grotto S, Lacombe D, Larson A, Mourmans J, Õunap K, Petrilli G, Pfundt R, Ramsey K, Blok LS, Tsatsaris V, Vitobello A, Faivre L, Wheeler PG, Wevers MR, Wojcik M, Zweier M, Gozani O, Rauch A.
Zanoni P, et al.
Genet Med. 2021 Aug;23(8):1474-1483. doi: 10.1038/s41436-021-01158-1. Epub 2021 May 3.
Genet Med. 2021.
PMID: 33941880
Free PMC article.
Item in Clipboard
From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature.
Wiel LC, Bruno I, Barbi E, Sirchia F.
Wiel LC, et al.
Ital J Pediatr. 2022 May 12;48(1):72. doi: 10.1186/s13052-022-01267-w.
Ital J Pediatr. 2022.
PMID: 35550183
Free PMC article.
Review.
Item in Clipboard
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