PubMed (cited) for id: 269160

Year	Number of Results
1946	1
1991	1
1992	1
1993	1
1996	1
1997	1
2005	1
2007	1
2008	1
2009	1
2010	1
2024	0

1

Schizencephalies; a study of the congenital clefts in the cerebral mantle; clefts with fused lips.

YAKOVLEV PI, WADSWORTH RC. YAKOVLEV PI, et al. J Neuropathol Exp Neurol. 1946 Apr;5:116-30. doi: 10.1097/00005072-194604000-00003. J Neuropathol Exp Neurol. 1946. PMID: 21026933 No abstract available.

2

Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.

Hehr U, Pineda-Alvarez DE, Uyanik G, Hu P, Zhou N, Hehr A, Schell-Apacik C, Altus C, Daumer-Haas C, Meiner A, Steuernagel P, Roessler E, Winkler J, Muenke M. Hehr U, et al. Hum Genet. 2010 Mar;127(5):555-61. doi: 10.1007/s00439-010-0797-4. Epub 2010 Feb 16. Hum Genet. 2010. PMID: 20157829 Free PMC article.

3

Maternally inherited heterozygous sequence change in the sonic hedgehog gene in a male patient with bilateral closed-lip schizencephaly and partial absence of the corpus callosum.

Schell-Apacik CC, Ertl-Wagner B, Panzel A, Klausener K, Rausch G, Muenke M, von Voss H, Hehr U. Schell-Apacik CC, et al. Am J Med Genet A. 2009 Jul;149A(7):1592-4. doi: 10.1002/ajmg.a.32940. Am J Med Genet A. 2009. PMID: 19533790 Free PMC article. No abstract available.

4

No major role for the EMX2 gene in schizencephaly.

Merello E, Swanson E, De Marco P, Akhter M, Striano P, Rossi A, Cama A, Leventer RJ, Guerrini R, Capra V, Dobyns WB. Merello E, et al. Am J Med Genet A. 2008 May 1;146A(9):1142-50. doi: 10.1002/ajmg.a.32264. Am J Med Genet A. 2008. PMID: 18409201

5

Comprehensive EMX2 genotyping of a large schizencephaly case series.

Tietjen I, Bodell A, Apse K, Mendonza AM, Chang BS, Shaw GM, Barkovich AJ, Lammer EJ, Walsh CA. Tietjen I, et al. Am J Med Genet A. 2007 Jun 15;143A(12):1313-6. doi: 10.1002/ajmg.a.31767. Am J Med Genet A. 2007. PMID: 17506092

6

Schizencephaly: heterogeneous etiologies in a population of 4 million California births.

Curry CJ, Lammer EJ, Nelson V, Shaw GM. Curry CJ, et al. Am J Med Genet A. 2005 Aug 30;137(2):181-9. doi: 10.1002/ajmg.a.30862. Am J Med Genet A. 2005. PMID: 16059942

7

A number of schizencephaly patients including 2 brothers are heterozygous for germline mutations in the homeobox gene EMX2.

Faiella A, Brunelli S, Granata T, D'Incerti L, Cardini R, Lenti C, Battaglia G, Boncinelli E. Faiella A, et al. Eur J Hum Genet. 1997 Jul-Aug;5(4):186-90. Eur J Hum Genet. 1997. PMID: 9359037

8

Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly.

Brunelli S, Faiella A, Capra V, Nigro V, Simeone A, Cama A, Boncinelli E. Brunelli S, et al. Nat Genet. 1996 Jan;12(1):94-6. doi: 10.1038/ng0196-94. Nat Genet. 1996. PMID: 8528262 No abstract available.

9

Familial schizencephaly.

Hilburger AC, Willis JK, Bouldin E, Henderson-Tilton A. Hilburger AC, et al. Brain Dev. 1993 May-Jun;15(3):234-6. doi: 10.1016/0387-7604(93)90072-g. Brain Dev. 1993. PMID: 8214352

10

Familial schizencephaly.

Robinson RO. Robinson RO. Dev Med Child Neurol. 1991 Nov;33(11):1010-2. doi: 10.1111/j.1469-8749.1991.tb14817.x. Dev Med Child Neurol. 1991. PMID: 1743422

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