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Year Number of Results
2015 3
2016 1
2017 2
2019 3
2020 4
2021 2
2024 0

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PubMed (Bookshelf cited) for id: 899880

12 results

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Page 1
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Lenaerts L, Reynhout S, Verbinnen I, Laumonnier F, Toutain A, Bonnet-Brilhault F, Hoorne Y, Joss S, Chassevent AK, Smith-Hicks C, Loeys B, Joset P, Steindl K, Rauch A, Mehta SG, Chung WK, Devriendt K, Holder SE, Jewett T, Baldwin LM, Wilson WG, Towner S, Srivastava S, Johnson HF, Daumer-Haas C, Baethmann M, Ruiz A, Gabau E, Jain V, Varghese V, Al-Beshri A, Fulton S, Wechsberg O, Orenstein N, Prescott K, Childs AM, Faivre L, Moutton S, Sullivan JA, Shashi V, Koudijs SM, Heijligers M, Kivuva E, McTague A, Male A, van Ierland Y, Plecko B, Maystadt I, Hamid R, Hannig VL, Houge G, Janssens V. Lenaerts L, et al. Genet Med. 2021 Feb;23(2):352-362. doi: 10.1038/s41436-020-00981-2. Epub 2020 Oct 27. Genet Med. 2021. PMID: 33106617 Free PMC article.
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
Barbosa S, Greville-Heygate S, Bonnet M, Godwin A, Fagotto-Kaufmann C, Kajava AV, Laouteouet D, Mawby R, Wai HA, Dingemans AJM, Hehir-Kwa J, Willems M, Capri Y, Mehta SG, Cox H, Goudie D, Vansenne F, Turnpenny P, Vincent M, Cogné B, Lesca G, Hertecant J, Rodriguez D, Keren B, Burglen L, Gérard M, Putoux A; C4RCD Research Group; Cantagrel V, Siquier-Pernet K, Rio M, Banka S, Sarkar A, Steeves M, Parker M, Clement E, Moutton S, Tran Mau-Them F, Piton A, de Vries BBA, Guille M, Debant A, Schmidt S, Baralle D. Barbosa S, et al. Am J Hum Genet. 2020 Mar 5;106(3):338-355. doi: 10.1016/j.ajhg.2020.01.018. Epub 2020 Feb 27. Am J Hum Genet. 2020. PMID: 32109419 Free PMC article.
Approach to overgrowth syndromes in the genome era.
Burkardt DD, Tatton-Brown K, Dobyns W, Graham JM Jr. Burkardt DD, et al. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):483-490. doi: 10.1002/ajmg.c.31757. Epub 2019 Dec 2. Am J Med Genet C Semin Med Genet. 2019. PMID: 31793186 Review.
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.
Reijnders MRF, Ansor NM, Kousi M, Yue WW, Tan PL, Clarkson K, Clayton-Smith J, Corning K, Jones JR, Lam WWK, Mancini GMS, Marcelis C, Mohammed S, Pfundt R, Roifman M, Cohn R, Chitayat D; Deciphering Developmental Disorders Study; Millard TH, Katsanis N, Brunner HG, Banka S. Reijnders MRF, et al. Am J Hum Genet. 2017 Sep 7;101(3):466-477. doi: 10.1016/j.ajhg.2017.08.007. Am J Hum Genet. 2017. PMID: 28886345 Free PMC article.
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Tatton-Brown K, Loveday C, Yost S, Clarke M, Ramsay E, Zachariou A, Elliott A, Wylie H, Ardissone A, Rittinger O, Stewart F, Temple IK, Cole T; Childhood Overgrowth Collaboration; Mahamdallie S, Seal S, Ruark E, Rahman N. Tatton-Brown K, et al. Am J Hum Genet. 2017 May 4;100(5):725-736. doi: 10.1016/j.ajhg.2017.03.010. Am J Hum Genet. 2017. PMID: 28475857 Free PMC article.
Timing, rates and spectra of human germline mutation.
Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB, Turki SA, Dominiczak A, Morris A, Porteous D, Smith B, Stratton MR; UK10K Consortium; Hurles ME. Rahbari R, et al. Nat Genet. 2016 Feb;48(2):126-133. doi: 10.1038/ng.3469. Epub 2015 Dec 14. Nat Genet. 2016. PMID: 26656846 Free PMC article.
12 results