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Items: 1 to 20 of 92

1.

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.

Am J Med Genet A. 2008 May 1;146A(9):1142-50. doi: 10.1002/ajmg.a.32264.

PMID:
18409201
2.

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.

Am J Med Genet A. 2007 Jun 15;143A(12):1313-6.

PMID:
17506092
3.

Schizencephaly: surgical features and new molecular genetic results.

Capra V, De Marco P, Moroni A, Faiella A, Brunelli S, Tortori-Donati P, Andreussi I, Boncinelli E, Cama A.

Eur J Pediatr Surg. 1996 Dec;6 Suppl 1:27-9.

PMID:
9008816
4.

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.

Hum Genet. 2010 Mar;127(5):555-61. doi: 10.1007/s00439-010-0797-4.

5.

Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort.

Mellado C, Poduri A, Gleason D, Elhosary PC, Barry BJ, Partlow JN, Chang BS, Shaw GM, Barkovich AJ, Walsh CA.

Am J Med Genet A. 2010 Nov;152A(11):2736-42. doi: 10.1002/ajmg.a.33684.

6.

Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care.

Dies KA, Bodell A, Hisama FM, Guo CY, Barry B, Chang BS, Barkovich AJ, Walsh CA.

J Child Neurol. 2013 Feb;28(2):198-203. doi: 10.1177/0883073812467850.

7.

Mutation analysis of the EMX2 gene in Kallmann's syndrome.

Taylor HS, Block K, Bick DP, Sherins RJ, Layman LC.

Fertil Steril. 1999 Nov;72(5):910-4. Erratum in: Fertil Steril 2000 Oct;74(4):851. Shering RJ [corrected to Sherins RJ].

PMID:
10560999
8.

Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.

Guerrini R, Moro F, Kato M, Barkovich AJ, Shiihara T, McShane MA, Hurst J, Loi M, Tohyama J, Norci V, Hayasaka K, Kang UJ, Das S, Dobyns WB.

Neurology. 2007 Jul 31;69(5):427-33.

PMID:
17664401
9.

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.

Eur J Hum Genet. 1997 Jul-Aug;5(4):186-90.

PMID:
9359037
10.

EMX2-independent familial schizencephaly: clinical and genetic analyses.

Tietjen I, Erdogan F, Currier S, Apse K, Chang BS, Hill RS, Lee CK, Walsh CA.

Am J Med Genet A. 2005 Jun 1;135(2):166-70.

PMID:
15887302
11.

Emx1 and Emx2 cooperate in initial phase of archipallium development.

Shinozaki K, Yoshida M, Nakamura M, Aizawa S, Suda Y.

Mech Dev. 2004 May;121(5):475-89.

12.

The role of cytomegalovirus in schizencephaly.

Spalice A, Del Balzo F, Nicita F, Papetti L, Ursitti F, Iannetti P.

Am J Med Genet A. 2011 Jul;155A(7):1768; author reply 1769. doi: 10.1002/ajmg.a.33922. No abstract available.

PMID:
21638760
13.

Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.

Yoneda Y, Haginoya K, Kato M, Osaka H, Yokochi K, Arai H, Kakita A, Yamamoto T, Otsuki Y, Shimizu S, Wada T, Koyama N, Mino Y, Kondo N, Takahashi S, Hirabayashi S, Takanashi J, Okumura A, Kumagai T, Hirai S, Nabetani M, Saitoh S, Hattori A, Yamasaki M, Kumakura A, Sugo Y, Nishiyama K, Miyatake S, Tsurusaki Y, Doi H, Miyake N, Matsumoto N, Saitsu H.

Ann Neurol. 2013 Jan;73(1):48-57. doi: 10.1002/ana.23736.

PMID:
23225343
14.

Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.

O'Driscoll MC, Daly SB, Urquhart JE, Black GC, Pilz DT, Brockmann K, McEntagart M, Abdel-Salam G, Zaki M, Wolf NI, Ladda RL, Sell S, D'Arrigo S, Squier W, Dobyns WB, Livingston JH, Crow YJ.

Am J Hum Genet. 2010 Sep 10;87(3):354-64. doi: 10.1016/j.ajhg.2010.07.012.

15.

Schizencephaly: clinical spectrum, epilepsy, and pathogenesis.

Granata T, Freri E, Caccia C, Setola V, Taroni F, Battaglia G.

J Child Neurol. 2005 Apr;20(4):313-8. Review.

PMID:
15921232
16.

Schizencephaly in LEOPARD syndrome.

Liang JS, Chien YH, Hwu WL, Yeh SJ, Peng SF.

Pediatr Neurol. 2009 Jul;41(1):71-3. doi: 10.1016/j.pediatrneurol.2009.02.015.

PMID:
19520282
17.

TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria.

Jansen AC, Oostra A, Desprechins B, De Vlaeminck Y, Verhelst H, RĂ©gal L, Verloo P, Bockaert N, Keymolen K, Seneca S, De Meirleir L, Lissens W.

Neurology. 2011 Mar 15;76(11):988-92. doi: 10.1212/WNL.0b013e31821043f5.

PMID:
21403111
18.

Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms.

Shinozaki Y, Osawa M, Sakuma H, Komaki H, Nakagawa E, Sugai K, Sasaki M, Goto Y.

Brain Dev. 2009 Jun;31(6):469-72. doi: 10.1016/j.braindev.2008.08.006.

PMID:
18823727
19.

Mutation analysis of NOBOX homeodomain in Chinese women with premature ovarian failure.

Qin Y, Shi Y, Zhao Y, Carson SA, Simpson JL, Chen ZJ.

Fertil Steril. 2009 Apr;91(4 Suppl):1507-9. doi: 10.1016/j.fertnstert.2008.08.020.

PMID:
18930203
20.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
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