Dobyns WB - Search Results

1

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

Mirzaa GM, Conti V, Timms AE, Smyser CD, Ahmed S, Carter M, Barnett S, Hufnagel RB, Goldstein A, Narumi-Kishimoto Y, Olds C, Collins S, Johnston K, Deleuze JF, Nitschké P, Friend K, Harris C, Goetsch A, Martin B, Boyle EA, Parrini E, Mei D, Tattini L, Slavotinek A, Blair E, Barnett C, Shendure J, Chelly J, Dobyns WB, Guerrini R. Mirzaa GM, et al. Among authors: dobyns wb. Lancet Neurol. 2015 Dec;14(12):1182-95. doi: 10.1016/S1474-4422(15)00278-1. Epub 2015 Oct 29. Lancet Neurol. 2015. PMID: 26520804 Free PMC article.

2

Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.

Fink JM, Dobyns WB, Guerrini R, Hirsch BA. Fink JM, et al. Among authors: dobyns wb. Am J Hum Genet. 1997 Aug;61(2):379-87. doi: 10.1086/514863. Am J Hum Genet. 1997. PMID: 9311743 Free PMC article.

3

Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome.

Dobyns WB, Guerrini R, Czapansky-Beilman DK, Pierpont ME, Breningstall G, Yock DH Jr, Bonanni P, Truwit CL. Dobyns WB, et al. Neurology. 1997 Oct;49(4):1042-7. doi: 10.1212/wnl.49.4.1042. Neurology. 1997. PMID: 9339687 Review.

4

Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects.

Sossey-Alaoui K, Hartung AJ, Guerrini R, Manchester DK, Posar A, Puche-Mira A, Andermann E, Dobyns WB, Srivastava AK. Sossey-Alaoui K, et al. Among authors: dobyns wb. Hum Mol Genet. 1998 Aug;7(8):1327-32. doi: 10.1093/hmg/7.8.1327. Hum Mol Genet. 1998. PMID: 9668176

5

Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation.

Guerrini R, Dobyns WB. Guerrini R, et al. Among authors: dobyns wb. Neurology. 1998 Aug;51(2):499-503. doi: 10.1212/wnl.51.2.499. Neurology. 1998. PMID: 9710025

6

Epilepsy and malformations of the cerebral cortex.

Guerrini R, Canapicchi R, Dobyns WB. Guerrini R, et al. Among authors: dobyns wb. Neurologia. 1999 May;14 Suppl 3:32-47. Neurologia. 1999. PMID: 10379165 Review.

7

Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly.

Dobyns WB, Truwit CL, Ross ME, Matsumoto N, Pilz DT, Ledbetter DH, Gleeson JG, Walsh CA, Barkovich AJ. Dobyns WB, et al. Neurology. 1999 Jul 22;53(2):270-7. doi: 10.1212/wnl.53.2.270. Neurology. 1999. PMID: 10430413

8

Cortical dysplasias, genetics, and epileptogenesis.

Guerrini R, Andermann E, Avoli M, Dobyns WB. Guerrini R, et al. Among authors: dobyns wb. Adv Neurol. 1999;79:95-121. Adv Neurol. 1999. PMID: 10514808 Review. No abstract available.

9

Genetic and neuroradiological heterogeneity of double cortex syndrome.

Gleeson JG, Luo RF, Grant PE, Guerrini R, Huttenlocher PR, Berg MJ, Ricci S, Cusmai R, Wheless JW, Berkovic S, Scheffer I, Dobyns WB, Walsh CA. Gleeson JG, et al. Among authors: dobyns wb. Ann Neurol. 2000 Feb;47(2):265-9. Ann Neurol. 2000. PMID: 10665503

10

Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome.

Guerrini R, Barkovich AJ, Sztriha L, Dobyns WB. Guerrini R, et al. Among authors: dobyns wb. Neurology. 2000 Feb 22;54(4):909-13. doi: 10.1212/wnl.54.4.909. Neurology. 2000. PMID: 10690985

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