PubMed (Bookshelf cited) for id: 376107

Year	Number of Results
1993	1
1996	1
1999	1
2000	1
2005	1
2006	2
2007	1
2008	1
2010	3
2011	1
2012	1
2013	1
2014	3
2016	1
2017	3
2018	2
2024	0

1

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.

Heinzen EL, O'Neill AC, Zhu X, Allen AS, Bahlo M, Chelly J, Chen MH, Dobyns WB, Freytag S, Guerrini R, Leventer RJ, Poduri A, Robertson SP, Walsh CA, Zhang M; Epi4K Consortium; Epilepsy Phenome/Genome Project. Heinzen EL, et al. PLoS Genet. 2018 May 8;14(5):e1007281. doi: 10.1371/journal.pgen.1007281. eCollection 2018 May. PLoS Genet. 2018. PMID: 29738522 Free PMC article.

2

Brain Magnetic Resonance Imaging Findings of Congenital Cytomegalovirus Infection as a Prognostic Factor for Neurological Outcome.

Kwak M, Yum MS, Yeh HR, Kim HJ, Ko TS. Kwak M, et al. Pediatr Neurol. 2018 Jun;83:14-18. doi: 10.1016/j.pediatrneurol.2018.03.008. Epub 2018 Mar 21. Pediatr Neurol. 2018. PMID: 29681488

3

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.

Horn D, Siebert E, Seidel U, Rost I, Mayer K, Abou Jamra R, Mitter D, Kornak U. Horn D, et al. Am J Med Genet A. 2017 Sep;173(9):2534-2538. doi: 10.1002/ajmg.a.38345. Epub 2017 Jul 25. Am J Med Genet A. 2017. PMID: 28742248

4

A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate.

Kato K, Miya F, Hori I, Ieda D, Ohashi K, Negishi Y, Hattori A, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. Kato K, et al. J Hum Genet. 2017 Sep;62(9):861-863. doi: 10.1038/jhg.2017.53. Epub 2017 May 18. J Hum Genet. 2017. PMID: 28515470

5

Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence?

Saletti V, Esposito S, Maccaro A, Giglio S, Valentini LG, Chiapparini L. Saletti V, et al. Eur J Med Genet. 2017 May;60(5):261-264. doi: 10.1016/j.ejmg.2017.03.002. Epub 2017 Mar 7. Eur J Med Genet. 2017. PMID: 28286253

6

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.

Ravenscroft G, Di Donato N, Hahn G, Davis MR, Craven PD, Poke G, Neas KR, Neuhann TM, Dobyns WB, Laing NG. Ravenscroft G, et al. Neuromuscul Disord. 2016 Nov;26(11):744-748. doi: 10.1016/j.nmd.2016.09.009. Epub 2016 Sep 19. Neuromuscul Disord. 2016. PMID: 27751653

7

Malformations of cortical development: clinical features and genetic causes.

Guerrini R, Dobyns WB. Guerrini R, et al. Lancet Neurol. 2014 Jul;13(7):710-26. doi: 10.1016/S1474-4422(14)70040-7. Epub 2014 Jun 2. Lancet Neurol. 2014. PMID: 24932993 Free PMC article. Review.

8

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.

Baulac S, Lenk GM, Dufresnois B, Ouled Amar Bencheikh B, Couarch P, Renard J, Larson PA, Ferguson CJ, Noé E, Poirier K, Hubans C, Ferreira S, Guerrini R, Ouazzani R, El Hachimi KH, Meisler MH, Leguern E. Baulac S, et al. Neurology. 2014 Mar 25;82(12):1068-75. doi: 10.1212/WNL.0000000000000241. Epub 2014 Mar 5. Neurology. 2014. PMID: 24598713 Free PMC article.

9

Polymicrogyria with dysmorphic basal ganglia? Think tubulin!

Amrom D, Tanyalçin I, Verhelst H, Deconinck N, Brouhard GJ, Décarie JC, Vanderhasselt T, Das S, Hamdan FF, Lissens W, Michaud JL, Jansen AC. Amrom D, et al. Clin Genet. 2014 Feb;85(2):178-83. doi: 10.1111/cge.12141. Epub 2013 Apr 24. Clin Genet. 2014. PMID: 23495813

10

An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy.

Elia M, Amato C, Bottitta M, Grillo L, Calabrese G, Esposito M, Carotenuto M. Elia M, et al. Brain Dev. 2012 Nov;34(10):873-6. doi: 10.1016/j.braindev.2012.03.005. Epub 2012 Apr 1. Brain Dev. 2012. PMID: 22469695

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