Aggarwal KC, Aggarwal A, Prasad MS, Salhan RN, Upadhaya A (2000) Aicardi’s syndrome in a male child: an unusual presentation. Indian Pediatr 37:542–545
PubMed
CAS
Google Scholar
Aicardi J (1980) Aicardi syndrome in male infant editorial correspondence. J Pediatr 97:1040–1041
Google Scholar
Aicardi J (1999) Aicardi Syndrome: old and new findings. Int Pediatr 14:5–8
Google Scholar
Aicardi J (2005) Aicardi syndrome. Brain Dev 27:164–171
PubMed
Article
Google Scholar
Aicardi J, Levebre A, Lerique-Koechlin A (1965) A new syndrome: spasms in flexion, callosal agenesis, ocular abnormalities. Electroencephalogr Clin Neurophysiol 19:609–610
Google Scholar
Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW (1992) Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:1229–1239
PubMed
CAS
Google Scholar
Amos-Landgraf JM, Cottle A, Plenge RM, Friez M, Schwartz CE, Longshore J, Willard HF (2006) X chromosome-inactivation patterns of 1, 005 phenotypically unaffected females. Am J Hum Genet 79:493–499
PubMed
Article
CAS
Google Scholar
Bittel DC, Theodoro MF, Kibiryeva N, Fischer W, Talebizadeh Z, Butler MG (2008) Comparison of X chromosome inactivation patterns in multiple tissues from human females. J Med Genet 45:309–313
PubMed
Article
CAS
Google Scholar
Chappelow AV, Reid J, Parikh S, Traboulsi EI (2008) Aicardi syndrome in a genotypic male. Ophthalmic Genet 29:181–183
PubMed
Article
Google Scholar
Curatolo P, Libutti G, Dallapiccola B (1980) Aicardi syndrome in a male infant. J Pediatr 96:286–287
PubMed
Article
CAS
Google Scholar
Denslow GT, Robb RM (1979) Aicardi’s syndrome: a report of four cases and review of the literature. J Pediatr Ophthalmol Strabismus 16:10–15
PubMed
CAS
Google Scholar
Fariello RG, Chun RW, Doro JM, Buncic JR, Prichard JS (1977) EEG recognition of Aicardi’s syndrome. Arch Neurol 34:563–566
PubMed
CAS
Google Scholar
Font RL, Marines HM, Cartwright J, Bauserman SC (1991) Aicardi syndrome. A clinicopathologic case report including electron microscopic observations. Ophthalmology 98:1727–1731
PubMed
CAS
Google Scholar
Glasmacher MA, Sutton VR, Hopkins B, Eble T, Lewis RA, Parsons D, Van den Veyver IB (2007) Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children. J Child Neurol 22:176–184
PubMed
Article
Google Scholar
Grzeschik KH, Bornholdt D, Oeffner F, Konig A, n Boente M, Enders H, Fritz B, Hertl M, Grasshoff U, Hofling K, Oji V, Paradisi M, Schuchardt C, Szalai Z, Tadini G, Traupe H, Happle R (2007) Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nat Genet 39:833–835
PubMed
Article
CAS
Google Scholar
Hatakeyama C, Anderson CL, Beever CL, Penaherrera MS, Brown CJ, Robinson WP (2004) The dynamics of X-inactivation skewing as women age. Clin Genet 66:327–332
PubMed
Article
CAS
Google Scholar
Hoag HM, Taylor SA, Duncan AM, Khalifa MM (1997) Evidence that skewed X inactivation is not needed for the phenotypic expression of Aicardi syndrome. Hum Genet 100:459–464
PubMed
Article
CAS
Google Scholar
Hopkins B, Sutton VR, Lewis RA, Van den Veyver IB, Clark GD (2008) Neuroimaging aspects of Aicardi syndrome. Am J Med Genet 146A:2871–2878
Article
PubMed
Google Scholar
Hopkins IJ, Humphrey IK, Keith CG, Susman M, Webb GC, Turner EK (1979) The Aicardi syndrome in a 47, XXY male. Aust Paediatr J 15:278–280
PubMed
CAS
Google Scholar
Menezes AV, Lewis TL, Buncic JR (1996) Role of ccular involvement in the prediction of visual development and clinical prognosis in Aicardi syndrome. Br J Ophthalmol 80:805–811
PubMed
Article
CAS
Google Scholar
Menezes AV, MacGregor DL, Buncic JR (1994) Aicardi syndrome: natural history and possible predictors of severity. Pediatr Neurol 11:313–318
PubMed
Article
CAS
Google Scholar
Migeon BR (1994) X-chromosome inactivation: molecular mechanisms and genetic consequences. Trends Genet 10:230–235
PubMed
Article
CAS
Google Scholar
Molina JA, Mateos F, Merino M, Epifanio JL, Gorrono M (1989) Aicardi syndrome in two sisters. Pediatr 115:282–283
Article
CAS
Google Scholar
Naumova AK, Plenge RM, Bird LM, Leppert M, Morgan K, Willard HF, Sapienza C (1996) Heritability of X chromosome—inactivation phenotype in a large family. Am J Hum Genet 58:1111–1119
PubMed
CAS
Google Scholar
Neidich JA, Nussbaum RL, Packer RJ, Emanuel BS, Puck JM (1990) Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome. Pediatr 116:911–917
Article
CAS
Google Scholar
Ohtsuka Y, Oka E, Terasaki T, Ohtahara S (1993) Aicardi syndrome: a longitudinal clinical and electroencephalographic study. Epilepsia 34:627–634
PubMed
Article
CAS
Google Scholar
Palmer L, Zetterlund B, Hard AL, Steneryd K, Kyllerman M (2006) Aicardi syndrome: presentation at onset in Swedish children born in 1975–2002. Neuropediatrics 37:154–158
PubMed
Article
CAS
Google Scholar
Parrish JE, Scheuerle AE, Lewis RA, Levy ML, Nelson DL (1996) Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2. Hum Mol Genet 5:1777–1783
PubMed
Article
CAS
Google Scholar
Plenge RM, Stevenson RA, Lubs HA, Schwartz CE, Willard HF (2002) Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders. Am J Hum Genet 71:168–173
PubMed
Article
CAS
Google Scholar
Puck JM, Willard HF (1998) X inactivation in females with X-linked disease. N Engl J Med 338:325–328
PubMed
Article
CAS
Google Scholar
Sharp A, Robinson D, Jacobs P (2000) Age- and tissue-specific variation of X chromosome inactivation rations in normal women. Hum Genet 107:343–349
PubMed
Article
CAS
Google Scholar
Smith CD, Ryan SJ, Hoover SL, Baumann RJ (1996) Magnetic resonance imagining of the brain in Aicardi’s syndrome. Report of 20 patients. Neuroimaging 6:214–221
CAS
Google Scholar
Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver IB (2005) Facial and physical features of Aicardi Syndrome: infants to teenagers. Am J Med Genet 138A:254–258
Article
PubMed
Google Scholar
Van den Veyver I (2002) Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndrome: are they related X-linked dominant male-lethal disorders? Cytogenet Genome Res 99:289–296
PubMed
Article
CAS
Google Scholar
Wang X, Sutton VR, Peraza-Llanes OJ, Yu Z, Rosetta R, Kou YC, Eble TN, Patel A, Thaller C, Fang P, Van den Veyver IB (2007) Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet 39:836–838
PubMed
Article
CAS
Google Scholar
Wieacker P, Zimmer J, Ropers H (1985) X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance. Clinic Genet 28:238–242
CAS
Article
Google Scholar