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

Year Number of Results
2013 5
2014 6
2015 2
2016 5
2017 4
2018 1
2019 2
2024 0

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22 results

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Page 1
Congenital microcephaly.
Alcantara D, O'Driscoll M. Alcantara D, et al. Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):124-39. doi: 10.1002/ajmg.c.31397. Epub 2014 May 9. Am J Med Genet C Semin Med Genet. 2014. PMID: 24816482 Review.
Mutations in PIK3R1 cause SHORT syndrome.
Dyment DA, Smith AC, Alcantara D, Schwartzentruber JA, Basel-Vanagaite L, Curry CJ, Temple IK, Reardon W, Mansour S, Haq MR, Gilbert R, Lehmann OJ, Vanstone MR, Beaulieu CL; FORGE Canada Consortium; Majewski J, Bulman DE, O'Driscoll M, Boycott KM, Innes AM. Dyment DA, et al. Am J Hum Genet. 2013 Jul 11;93(1):158-66. doi: 10.1016/j.ajhg.2013.06.005. Epub 2013 Jun 27. Am J Hum Genet. 2013. PMID: 23810382 Free PMC article.
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
Bennett JT, Tan TY, Alcantara D, Tétrault M, Timms AE, Jensen D, Collins S, Nowaczyk MJM, Lindhurst MJ, Christensen KM, Braddock SR, Brandling-Bennett H, Hennekam RCM, Chung B, Lehman A, Su J, Ng S, Amor DJ; University of Washington Center for Mendelian Genomics; Care4Rare Canada Consortium; Majewski J, Biesecker LG, Boycott KM, Dobyns WB, O'Driscoll M, Moog U, McDonell LM. Bennett JT, et al. Am J Hum Genet. 2016 Mar 3;98(3):579-587. doi: 10.1016/j.ajhg.2016.02.006. Am J Hum Genet. 2016. PMID: 26942290 Free PMC article.
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Alcantara D, Timms AE, Gripp K, Baker L, Park K, Collins S, Cheng C, Stewart F, Mehta SG, Saggar A, Sztriha L, Zombor M, Caluseriu O, Mesterman R, Van Allen MI, Jacquinet A, Ygberg S, Bernstein JA, Wenger AM, Guturu H, Bejerano G, Gomez-Ospina N, Lehman A, Alfei E, Pantaleoni C, Conti V, Guerrini R, Moog U, Graham JM Jr, Hevner R, Dobyns WB, O'Driscoll M, Mirzaa GM. Alcantara D, et al. Brain. 2017 Oct 1;140(10):2610-2622. doi: 10.1093/brain/awx203. Brain. 2017. PMID: 28969385 Free PMC article.
Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms.
Karasozen Y, Osbun JW, Parada CA, Busald T, Tatman P, Gonzalez-Cuyar LF, Hale CJ, Alcantara D, O'Driscoll M, Dobyns WB, Murray M, Kim LJ, Byers P, Dorschner MO, Ferreira M Jr. Karasozen Y, et al. Am J Hum Genet. 2019 May 2;104(5):968-976. doi: 10.1016/j.ajhg.2019.03.014. Epub 2019 Apr 25. Am J Hum Genet. 2019. PMID: 31031011 Free PMC article.
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.
Van Esch H, Colnaghi R, Freson K, Starokadomskyy P, Zankl A, Backx L, Abramowicz I, Outwin E, Rohena L, Faulkner C, Leong GM, Newbury-Ecob RA, Challis RC, Õunap K, Jaeken J, Seuntjens E, Devriendt K, Burstein E, Low KJ, O'Driscoll M. Van Esch H, et al. Am J Hum Genet. 2019 May 2;104(5):957-967. doi: 10.1016/j.ajhg.2019.03.006. Epub 2019 Apr 18. Am J Hum Genet. 2019. PMID: 31006512 Free PMC article.
Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.
Bagheri H, Badduke C, Qiao Y, Colnaghi R, Abramowicz I, Alcantara D, Dunham C, Wen J, Wildin RS, Nowaczyk MJ, Eichmeyer J, Lehman A, Maranda B, Martell S, Shan X, Lewis SM, O'Driscoll M, Gregory-Evans CY, Rajcan-Separovic E. Bagheri H, et al. JCI Insight. 2016 Mar 17;1(3):e85461. doi: 10.1172/jci.insight.85461. JCI Insight. 2016. PMID: 27699255 Free PMC article.
22 results