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Year Number of Results
2002 1
2003 3
2008 2
2009 1
2010 1
2011 1
2016 2
2017 1
2018 2
2019 1
2024 0

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14 results

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Page 1
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.
Lee S, Chen DY, Zaki MS, Maroofian R, Houlden H, Di Donato N, Abdin D, Morsy H, Mirzaa GM, Dobyns WB, McEvoy-Venneri J, Stanley V, James KN, Mancini GMS, Schot R, Kalayci T, Altunoglu U, Karimiani EG, Brick L, Kozenko M, Jamshidi Y, Manzini MC, Beiraghi Toosi M, Gleeson JG. Lee S, et al. Am J Hum Genet. 2019 Oct 3;105(4):844-853. doi: 10.1016/j.ajhg.2019.08.013. Am J Hum Genet. 2019. PMID: 31585108 Free PMC article.
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Rivière JB, Zaki MS; University of Washington Center for Mendelian Genomics; Gleeson JG, Rump A, Conti V, Parrini E, Ross ME, Ledbetter DH, Guerrini R, Dobyns WB. Di Donato N, et al. Genet Med. 2018 Nov;20(11):1354-1364. doi: 10.1038/gim.2018.8. Epub 2018 Apr 19. Genet Med. 2018. PMID: 29671837 Free PMC article.
Lissencephaly: Expanded imaging and clinical classification.
Di Donato N, Chiari S, Mirzaa GM, Aldinger K, Parrini E, Olds C, Barkovich AJ, Guerrini R, Dobyns WB. Di Donato N, et al. Am J Med Genet A. 2017 Jun;173(6):1473-1488. doi: 10.1002/ajmg.a.38245. Epub 2017 Apr 25. Am J Med Genet A. 2017. PMID: 28440899 Free PMC article.
Genetic Basis of Brain Malformations.
Parrini E, Conti V, Dobyns WB, Guerrini R. Parrini E, et al. Mol Syndromol. 2016 Sep;7(4):220-233. doi: 10.1159/000448639. Epub 2016 Aug 27. Mol Syndromol. 2016. PMID: 27781032 Free PMC article. Review.
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Di Donato N, Kuechler A, Vergano S, Heinritz W, Bodurtha J, Merchant SR, Breningstall G, Ladda R, Sell S, Altmüller J, Bögershausen N, Timms AE, Hackmann K, Schrock E, Collins S, Olds C, Rump A, Dobyns WB. Di Donato N, et al. Am J Med Genet A. 2016 Oct;170(10):2644-51. doi: 10.1002/ajmg.a.37771. Epub 2016 May 30. Am J Med Genet A. 2016. PMID: 27240540
WDR62 is associated with the spindle pole and is mutated in human microcephaly.
Nicholas AK, Khurshid M, Désir J, Carvalho OP, Cox JJ, Thornton G, Kausar R, Ansar M, Ahmad W, Verloes A, Passemard S, Misson JP, Lindsay S, Gergely F, Dobyns WB, Roberts E, Abramowicz M, Woods CG. Nicholas AK, et al. Nat Genet. 2010 Nov;42(11):1010-4. doi: 10.1038/ng.682. Epub 2010 Oct 3. Nat Genet. 2010. PMID: 20890279 Free PMC article.
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG. Dobyns WB, et al. Am J Med Genet A. 2008 Jul 1;146A(13):1637-54. doi: 10.1002/ajmg.a.32293. Am J Med Genet A. 2008. PMID: 18536050 Free PMC article.
14 results