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Items: 1 to 20 of 116

1.

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.

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.

Septo-optic dysplasia complex: a heterogeneous malformation syndrome.

Polizzi A, Pavone P, Iannetti P, Manfré L, Ruggieri M.

Pediatr Neurol. 2006 Jan;34(1):66-71.

PMID:
16376284
4.
5.

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. Epub 2011 Jun 2. No abstract available.

PMID:
21638760
6.

Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond.

McCabe MJ, Alatzoglou KS, Dattani MT.

Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):115-24. doi: 10.1016/j.beem.2010.06.008. Review.

PMID:
21396578
7.

Septo-optic dysplasia - novel insights into the aetiology.

Kelberman D, Dattani MT.

Horm Res. 2008;69(5):257-65. doi: 10.1159/000114856. Epub 2008 Feb 6. Review.

8.

Ectopic posterior pituitary lobe and periventricular heterotopia: cerebral malformations with the same underlying mechanism?

Mitchell LA, Thomas PQ, Zacharin MR, Scheffer IE.

AJNR Am J Neuroradiol. 2002 Oct;23(9):1475-81.

9.

Septo-optic dysplasia syndrome with schizencephaly and sudden visual loss. A new observation.

Masri AT, Abu-Libdeh AM, Ababneh OH, Al-Hadidy AM.

Neurosciences (Riyadh). 2011 Jul;16(3):281-2. No abstract available.

PMID:
21677624
10.

Genetics of septo-optic dysplasia.

Kelberman D, Dattani MT.

Pituitary. 2007;10(4):393-407. Review.

PMID:
17587179
11.

Septo-optic dysplasia plus: a patient with diabetes insipidus.

Carman KB, Yarar C, Yakut A, Adapinar B.

Pediatr Neurol. 2010 Jul;43(1):76-8. doi: 10.1016/j.pediatrneurol.2010.03.001.

PMID:
20682211
12.

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. Epub 2012 Dec 23.

13.

[Natural course of septo-optic dysplasia: retrospective analysis of 20 cases].

León-Gonzalez M, García-Peñas JJ, Puertas-Bordallo D, López-Pino MA, Argente-Oliver J, Cantarín-Extremera V.

Rev Neurol. 2012 Mar 16;54(6):321-31. Review. Spanish.

14.

HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.

McNay DE, Turton JP, Kelberman D, Woods KS, Brauner R, Papadimitriou A, Keller E, Keller A, Haufs N, Krude H, Shalet SM, Dattani MT.

J Clin Endocrinol Metab. 2007 Feb;92(2):691-7. Epub 2006 Dec 5.

PMID:
17148560
15.

Disruption of SoxB1-dependent Sonic hedgehog expression in the hypothalamus causes septo-optic dysplasia.

Zhao L, Zevallos SE, Rizzoti K, Jeong Y, Lovell-Badge R, Epstein DJ.

Dev Cell. 2012 Mar 13;22(3):585-96. doi: 10.1016/j.devcel.2011.12.023.

16.

Screening of LHX2 in patients presenting growth retardation with posterior pituitary and ocular abnormalities.

Pérez C, Dastot-Le Moal F, Collot N, Legendre M, Abadie I, Bertrand AM, Amselem S, Sobrier ML.

Eur J Endocrinol. 2012 Jul;167(1):85-91. doi: 10.1530/EJE-12-0026. Epub 2012 Apr 24.

17.

Prenatal diagnosis of schizencephaly with septo-optic dysplasia by ultrasound and magnetic resonance imaging.

Hung JH, Shen SH, Guo WY, Chen CY, Chao KC, Yang MJ, Hung CY.

J Obstet Gynaecol Res. 2008 Aug;34(4 Pt 2):674-9. doi: 10.1111/j.1447-0756.2008.00905.x.

PMID:
18840179
18.

The subclassification of schizencephaly and its clinical characterization.

Maeda T, Akaishi M, Shimizu M, Sekiguchi K, Anan A, Takano T, Imai K, Suenobu S, Korematsu S, Izumi T.

Brain Dev. 2009 Oct;31(9):694-701. doi: 10.1016/j.braindev.2008.10.004. Epub 2008 Nov 26.

PMID:
19038511
19.

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
20.

Heterozygous mutation of HESX1 causing hypopituitarism and multiple anatomical malformations without features of septo-optic dysplasia.

Corneli G, Vivenza D, Prodam F, Di Dio G, Vottero A, Rapa A, Bellone S, Bernasconi S, Bona G.

J Endocrinol Invest. 2008 Aug;31(8):689-93.

PMID:
18852528

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