Aicardi syndrome

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(letter), Am J Med Genet, 59, 100, 10.1002/ajmg.1320590120 Ropers, 1982, Agenesis of corpus callosum, ocular and skeletal anomalies (X linked dominant Aicardi's syndrome) in a girl with a balanced X/3 translocation, Hum Genet, 61, 364, 10.1007/BF00276602 Al-Gazali, 1988, An XX male and two (X;Y) females with linear skin defects and congenitam microphthamia: a new syndrome at Xp 22.3, J Med Genet, 25, 638 Lindsay, 1994, Microphthalmia and linear skin defects (MLS) syndrome: clinical, cytogenetic and molecular characterization, Am J Med Genet, 49, 229, 10.1002/ajmg.1320490214 Schaefer, 1996, Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS), Genomics, 34, 166, 10.1006/geno.1996.0261 Wapenaar, 1993, The genes for X-linked ocular albinism (OAI) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical region, Hum Mol Genet, 2, 947, 10.1093/hmg/2.7.947 Friedman, 1988, Provisional deletion mapping of the focal dermal hypoplasia (FDH) gene to Xp 22.3, Am J Hum Genet, 43, 50 Van der Veyer P, Panichkul P, Antoffy B, et al. Presence of Filamin in the astrcytic inclusions of Aicardi syndrome. Pediatr Neurol 2004;30:7–15. Bour, 1986, Caractères électrocliniques des crises dans le syndrome d'Aicardi, Rev Electroencephalogr Neurophysiol Clin, 16, 341, 10.1016/S0370-4475(86)80024-7 Hamano, 1989, Aicardi syndrome: postmortem findings, Pediatr Neurol, 5, 259, 10.1016/0887-8994(89)90088-X Del Pero, 1986, Anomalies of retinal architecture in Aicardi syndrome, Arch Ophthalmol, 104, 1659, 10.1001/archopht.1986.01050230097041 Ferrer, 1986, A Golgi study of the polymicrogyric cortex in Aicardi syndrome, Brain Dev, 8, 518, 10.1016/S0387-7604(86)80097-3 Özek, 1995, Multiple pineal cysts presenting infantile spasms, Childs Nerv Syst, 11, 246, 10.1007/BF00277661 Barkovich, 2001, Callosal agenesis with cyst: a better understanding and new classification, Neurology, 56, 220, 10.1212/WNL.56.2.220 Brihaye, 1956, Agénésie de la commissure calleuse, associée à un kyste épendymaire, Arch Suisses Neurol Neurochir Psychiatr, 77, 415 de Jong, 1976, Agenesis of the corpus callosum, infantile spasms, ocular anomalities (Aicardi's syndrome): clinical and pathological findings, Neurology, 26, 1152, 10.1212/WNL.26.12.1152 Aicardi, 1996, Aicardi syndrome, 211 Hall-Craggs, 1990, Aicardi syndrome: MR assessment of brain structure and myelination, Am J Neuroradiol, 11, 532 Roland, 1989, Neurosonographic features of Aicardi syndrome, J Child Neurol, 4, 307, 10.1177/088307388900400411 Tagawa, 1989, Aicardi syndrome associated with an embryonal carcinoma, Pediatr Neurol, 5, 45, 10.1016/0887-8994(89)90009-X Uchiyama, 1997, Choroid plexus papilloma and cysts in Aicardi syndrome: case reports, Pediatr Neurosurg, 27, 100, 10.1159/000121234 Hopkins, 1996, Aicardi syndrome with normal developmental process, remission of epilepsy and bilateral intraventricular tumors, 77 Rosser, 2002, Aicardi syndrome: spectrum of disease and long term prognosis in 77 females, Pediatr Neurol, 27, 343, 10.1016/S0887-8994(02)00450-2 Abe, 1990, A case of Aicardi syndrome with moderate psychomotor retardation, No To Hattatsu, 22, 376 Menezes, 1994, Aicardi syndrome: the elusive mild case, Br J Ophthalmol, 78, 494, 10.1136/bjo.78.6.494 Menezes, 1994, Aicardi syndrome: natural history and possible predictors of severity, Pediatr Neurol, 11, 313, 10.1016/0887-8994(94)90008-6 Willis, 1980, The Aicardi syndrome versus congenital infection: diagnostic consideration, J Pediatr, 96, 235, 10.1016/S0022-3476(80)80808-0