Journal Articles

Selected Aicardi Syndrome Journal Articles
(reverse chronological order)

Non-random X chromosome inactivation in Aicardi syndrome.Eble TN, Sutton VR, Sangi-Haghpeykar H, Wang X, Jin W, Lewis RA, Fang P, Van den Veyver IB. Hum Genet. 2009 Jan 1. [Full Text]

Neuroimaging aspects of Aicardi syndrome. Hopkins B, Sutton VR, Lewis RA, Van den Veyver I, Clark G. American Journal of Medical Genetics Part A. 2008; 146A:2871-2878.[Abstract]

New incidence, prevalence, and survival of Aicardi syndrome from 408 cases. Kroner BL, Preiss LR, Ardini M, Gaillard WD. Journal of Child Neurology. 2008; 23(5):531-535.
[Abstract]

Aicardi syndrome in monozygotic twins. Pons ME, Garcia CA. Ophthalmic Genetics. 2008; 29:87-88.

Choroid plexus papilloma expansion over 7 years in Aicardi syndrome. Frye RE, Polling JS, Ma LCK. Journal of Child Neurology. 2007; 22(4):484-487.[Abstract]

Intractable reflex audiogenic seizures in Aicardi syndrome. Brain & Development. Grosso S, Farnetani MA, Bernardoni E, Morgese G, Balestri P. 2007; 29:243-246. [Abstract]

Aicardi syndrome with favorable outcome: Case report and review. Grosso S, Lasorella G, Russo A, Galluzzi P, Morgese G, Balestri P. Brain and Development. 2007; 29:443-446.[Abstract]

Aicardi syndrome: Follow-up investigation of Swedish children born in 1975-2002. Palmer L, Zetterlund B, Hard AL, Steneryd K, Kyllerman M. Neuropediatrics. 2007;38:188-192[Abstract]

Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH.
Yilmaz S, Fomtaine H, Brochet K, Gregoire M, Devignes M, Schaff J, Philippe C, Nemos C, McGregor JL, Jonveaux P. European Journal of Medical Genetics. 2007; 50:386-391.
[Abstract]

Phenotype and Management of Aicardi Syndrome: New Findings from a Survey of 69 Children Margaret A. K. Glasmacher, V. Reid Sutton, Bobbi Hopkins, Tanya Eble, Richard A. Lewis, Denise Park Parsons, and Ignatia B. Van den Veyver. J. Child Neuro 2007 Feb;22(2):176-184. [Abstract]

Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002 Palmer L, Zetterlund B, Hard AL, Steneryd K, Kyllerman M. Neuropediatrics 2006 Jun; 37(3):154-8. [Abstract]

Facial and physical features of Aicardi syndrome: infants to teenagers. Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver IB. Am J Med Genet A. 2005 Oct 15;138(3):254-8. [Abstract]

Callosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: Aicardi syndrome without epilepsy? Prats Vinas JM, Martinez Gonzalez MJ, Garcia Ribes A, Martinez Gonzalez S, Martinez Fernandez R. Dev Med Child Neurol. 2005 Jun;47(6):419-20; discussion 364. [Abstract]

Aicardi syndrome. Aicardi J. Brain Dev. 2005 Apr;27(3):164-71. [Abstract]

Early treatment of Aicardi syndrome with vigabatrin can improve outcome. Chau V, Karvelas G, Jacob P, Carmant L. Neurology. 2004 Nov 9;63(9):1756-7. [Abstract]

Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG. Matlary A, Prescott T, Tvedt B, Lindberg K, Server A, Aicardi J, Stromme P. Department of Paediatrics, Ulleval University Hospital, Oslo, Norway. Clin Dysmorphol. 2004 Oct;13(4):257-60. [Abstract]

Presence of filamin in the astrocytic inclusions of Aicardi syndrome. Van den Veyver IB, Panichkul PP, Antalffy BA, Sun Y, Hunter JV, Armstrong DD. Department of Obstetrics and Gynecology, Baylor College of Medicine and Texas Children’s Hospital, Houston, Texas 77030, USA. Pediatr Neurol. 2004 Jan;30(1):7-15. [Abstract]

Aicardi syndrome. Rosser T. Department of Neurology, Center for Neuroscience and Behavioral Medicine,Children’s National Medical Center, Washington, DC 20010, USA. Arch Neurol. 2003 Oct;60(10):1471-3. [Abstract]

Aicardi syndrome with favorable outcome. Yacoub M, Missaoui N, Tabarli B, Ghorbel M, Tlili K, Selmi H, Essoussi A. Service de pediatrie, CHU Farhat-Hached, 4000 Sousse, Tunisie. Arch Pediatr. 2003 Jun;10(6):530-2. [Abstract]

Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders? Van den Veyver IB. Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA. Cytogenet Genome Res. 2002;99(1-4):289-96. [Abstract]

Aicardi syndrome: spectrum of disease and long-term prognosis in 77 females. Rosser TL, Acosta MT, Packer RJ. Department of Neurology and Pediatrics, Children’s National Medical Center, Washington, DC 20010, USA. Pediatr Neurol. 2002 Nov;27(5):343-6. [Abstract] (In spite of the acknowledgement in this paper, we note that the Aicardi Syndrome Foundation did not participate in this study, which was based upon answers by parents to several open-ended questions compiled in a yearbook and distributed to participating families.)

Three Choroid Plexus Papillomas in a Patient with Aicardi Syndrome Taggard DA, Menezes AH, Pediatric Neurosurgery 2000;33:219-223. [Abstract]

Aicardi Syndrome: Old and New Findings. Aicardi J. Hospital Robert Debre, Paris France. Int Pediatr. 1999 14(1): 5-8. [Article]

Aicardi syndrome King AM, Bowen DI, Goulding P, Doram RML, Br J Ophthalmol 1998;82:456. [Article]

Choroid plexus papilloma and cysts in the Aicardi syndrome: case reports. Uchiyama CM, Carey CM, Cherny WB, Brockmeyer DL, Falkner LD, Walker ML, Boyer RS. Department of Neurological Surgery, University of Utah School of Medicine and Primary Children’s Medical Center, Salt Lake City 84113. Pediatr Neurosurg. 1997 Aug;27(2):100-4. [Abstract]

Evidence that skewed X inactivation is not needed for the phenotypic expression of Aicardi syndrome. Hoag HM, Taylor SA, Duncan AM, Khalifa MM. Department of Pediatrics and Pathology, Queen’s University, Kingston, Ontario, Canada. Hum Genet. 1997 Sep;100(3-4):459-64 [Abstract]

Monozygotic twins discordant for Aicardi syndrome. Costa T, Greer W, Rysiecki G, Buncic JR, Ray PN. Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada. J Med Genet. 1997 Aug;34(8):688-91. [Abstract]

Magnetic Resonance Imaging of the Brain in Aicardi’s syndrome Smith CD, Ryan SJ, Hoover SL, Baumann RJ, Journal of Neuroimaging 1996; 6(4):214-221

Role of ocular involvement in the prediction of visual development and clinical prognosis in Aicardi syndrome. Menezes AV, Lewis TL, Buncic JR. Department of Ophthalmology, Hospital for Sick Children, Toronto, Canada. Br J Ophthalmol. 1996 Sep;80(9):805-11. [Abstract]

Aicardi syndrome: a morphologic description with particular reference to intracytoplasmic inclusions in cortical astrocytes. Buchino JJ, Nicol KK, Parker JC Jr. Department of Pediatrics and Pathology, School of Medicine, University of Louisville, Kentucky, USA. Pediatr Pathol Lab Med. 1996 Mar-Apr;16(2):285-91. [Abstract]

Aicardi syndrome with multiple tumors: a case report with literature review. Trifiletti RR, Incorpora G, Polizzi A, Cocuzza MD, Bolan EA, Parano E. Department of Neurology, Neuroscience and Pediatrics, New York Hospital-Cornell Medical Center, NY, USA. Brain Dev. 1995 Jul-Aug;17(4):283-5. [Abstract]

Persistant Hyperplastic Primary Vitreous in Association with Aicardi syndrome Weiddgold DJ, Maguire AM, Kalin NS, Hertle RW, Journal of Pediatric Ophthal and Strabismus, Jan/Feb 1995; 32(1):52-54

Aicardi syndrome: natural history and possible predictors of severity. Menezes AV, MacGregor DL, Buncic JR. Department of Ophthalmology, Hospital for Sick Children, Toronto, Ontario, Canada. Pediatr Neurol. 1994 Nov;11(4):313-8. [Abstract]

Aicardi syndrome-the elusive mild case. Menezes AV, Enzenauer RW, Buncic JR. Department of Ophthalmology, Hospital for Sick Children, Toronto, Ontario, Canada. Br J Ophthalmol. 1994 Jun;78(6):494-6.

Microphthalmia and Chorioretinal Lesions in a Girl with an Xp-22.2-pter Deletion and Partial 3p Trisomy: Clinical Observations Relevant to Aicardi Syndrome Gene Localization. Donnenfield AE, Graham JM Jr., Packer RJ, Aquino R et al. American Journal Med Genetics 1990; 37 (2):182-186 [Abstract]

Magnetic Resonance Imaging and Fundus findings in a Patient with Aicardi Syndrome. Gloor P, Pulido JS, Judisch GF, Arch Ophthalmology 1989; 107 (6): 922-923

The Aicardi Syndrome. Chevrie JJ, Aicardi J. In: Pedley TA and Meldrum BS, eds. Recent Advances in Epilepsy. Edinburgh: Churchill Livingstone; 1986 3:189-210.

MR Imaging in Aicardi Syndrome. Baierl P, Mark A, Thelen M, Laub MC, AJNR 1988 July-August; 9 (4):805-806

Aicardi’s Syndrome. A Clinicopathologic study. McMahan RG, Bell RA, Moore GR, Ludwin SK, Arch Ophthalmology 1984; 102: 2503 [Abstract]

A New Syndrome: Spasm in Flexion, Callosal Agenesis, Ocular Abnormalities Aicardi J, et al., Electroencephalogr Clin Neurophysical 1965;19:609-610.

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