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Page 1
Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions.
Traylor RN, Dobyns WB, Rosenfeld JA, Wheeler P, Spence JE, Bandholz AM, Bawle EV, Carmany EP, Powell CM, Hudson B, Schultz RA, Shaffer LG, Ballif BC. Traylor RN, et al. Among authors: dobyns wb. Mol Syndromol. 2012 Sep;3(3):102-112. doi: 10.1159/000342008. Epub 2012 Aug 23. Mol Syndromol. 2012. PMID: 23112752 Free PMC article.
Benign hereditary chorea.
Wheeler PG, Weaver DD, Dobyns WB. Wheeler PG, et al. Among authors: dobyns wb. Pediatr Neurol. 1993 Sep-Oct;9(5):337-40. doi: 10.1016/0887-8994(93)90101-h. Pediatr Neurol. 1993. PMID: 8292207 Review.
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
Paciorkowski AR, Traylor RN, Rosenfeld JA, Hoover JM, Harris CJ, Winter S, Lacassie Y, Bialer M, Lamb AN, Schultz RA, Berry-Kravis E, Porter BE, Falk M, Venkat A, Vanzo RJ, Cohen JS, Fatemi A, Dobyns WB, Shaffer LG, Ballif BC, Marsh ED. Paciorkowski AR, et al. Among authors: dobyns wb. Neurogenetics. 2013 May;14(2):99-111. doi: 10.1007/s10048-013-0356-y. Epub 2013 Feb 7. Neurogenetics. 2013. PMID: 23389741 Free PMC article.
X Chromosome-Inactivation Patterns in 31 Individuals with PHACE Syndrome.
Sullivan CT, Christian SL, Shieh JT, Metry D, Blei F, Krol A, Drolet BA, Frieden IJ, Dobyns WB, Siegel DH. Sullivan CT, et al. Among authors: dobyns wb. Mol Syndromol. 2013 Mar;4(3):114-8. doi: 10.1159/000343489. Epub 2012 Nov 16. Mol Syndromol. 2013. PMID: 23653582 Free PMC article.
Genetic Basis of Brain Malformations.
Parrini E, Conti V, Dobyns WB, Guerrini R. Parrini E, et al. Among authors: dobyns wb. 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.
Familial remitting chorea, nystagmus, and cataracts.
Wheeler PG, Dobyns WB, Plager DA, Ellis FD. Wheeler PG, et al. Among authors: dobyns wb. Am J Med Genet. 1993 Dec 1;47(8):1215-7. doi: 10.1002/ajmg.1320470817. Am J Med Genet. 1993. PMID: 8291559
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.
Paciorkowski AR, Thio LL, Rosenfeld JA, Gajecka M, Gurnett CA, Kulkarni S, Chung WK, Marsh ED, Gentile M, Reggin JD, Wheless JW, Balasubramanian S, Kumar R, Christian SL, Marini C, Guerrini R, Maltsev N, Shaffer LG, Dobyns WB. Paciorkowski AR, et al. Among authors: dobyns wb. Eur J Hum Genet. 2011 Dec;19(12):1238-45. doi: 10.1038/ejhg.2011.121. Epub 2011 Jun 22. Eur J Hum Genet. 2011. PMID: 21694734 Free PMC article.
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
Curry CJ, Rosenfeld JA, Grant E, Gripp KW, Anderson C, Aylsworth AS, Saad TB, Chizhikov VV, Dybose G, Fagerberg C, Falco M, Fels C, Fichera M, Graakjaer J, Greco D, Hair J, Hopkins E, Huggins M, Ladda R, Li C, Moeschler J, Nowaczyk MJ, Ozmore JR, Reitano S, Romano C, Roos L, Schnur RE, Sell S, Suwannarat P, Svaneby D, Szybowska M, Tarnopolsky M, Tervo R, Tsai AC, Tucker M, Vallee S, Wheeler FC, Zand DJ, Barkovich AJ, Aradhya S, Shaffer LG, Dobyns WB. Curry CJ, et al. Among authors: dobyns wb. Am J Med Genet A. 2013 Aug;161A(8):1833-52. doi: 10.1002/ajmg.a.35996. Epub 2013 Jun 27. Am J Med Genet A. 2013. PMID: 23813913 Free PMC article.
442 results