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De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.
Nambot S, Faivre L, Mirzaa G, Thevenon J, Bruel AL, Mosca-Boidron AL, Masurel-Paulet A, Goldenberg A, Le Meur N, Charollais A, Mignot C, Petit F, Rossi M, Metreau J, Layet V, Amram D, Boute-Bénéjean O, Bhoj E, Cousin MA, Kruisselbrink TM, Lanpher BC, Klee EW, Fiala E, Grange DK, Meschino WS, Hiatt SM, Cooper GM, Olivié H, Smith WE, Dumas M, Lehman A; CAUSES Study; Inglese C, Nizon M, Guerrini R, Vetro A, Kaplan ES, Miramar D, Van Gils J, Fergelot P, Bodamer O, Herkert JC, Pajusalu S, Õunap K, Filiano JJ, Smol T, Piton A, Gérard B, Chantot-Bastaraud S, Bienvenu T, Li D, Juusola J, Devriendt K, Bilan F, Poé C, Chevarin M, Jouan T, Tisserant E, Rivière JB, Tran Mau-Them F, Philippe C, Duffourd Y, Dobyns WB, Hevner R, Thauvin-Robinet C. Nambot S, et al. Among authors: dobyns wb. Eur J Hum Genet. 2020 Jun;28(6):770-782. doi: 10.1038/s41431-020-0571-6. Epub 2020 Jan 31. Eur J Hum Genet. 2020. PMID: 32005960 Free PMC article. Review.
Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.
Ross ME, Allen KM, Srivastava AK, Featherstone T, Gleeson JG, Hirsch B, Harding BN, Andermann E, Abdullah R, Berg M, Czapansky-Bielman D, Flanders DJ, Guerrini R, Motté J, Mira AP, Scheffer I, Berkovic S, Scaravilli F, King RA, Ledbetter DH, Schlessinger D, Dobyns WB, Walsh CA. Ross ME, et al. Among authors: dobyns wb. Hum Mol Genet. 1997 Apr;6(4):555-62. doi: 10.1093/hmg/6.4.555. Hum Mol Genet. 1997. PMID: 9097958
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.
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
451 results