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Case Reports

Aicardi Syndrome in a Genotypic Male

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Pages 181-183 | Received 17 Apr 2008, Accepted 29 Jun 2008, Published online: 08 Jul 2009

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Leyla Yavuz Saricay, Sandra Hoyek, Ayush Ashit Parikh, Grace Baldwin, Olaf a Bodamer, Efren Gonzalez & Nimesh A. Patel. (2023) A case of Aicardi syndrome associated with duplication event of Xp22 including SHOX. Ophthalmic Genetics 44:6, pages 591-594.
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Articles from other publishers (17)

Nury Tatiana Rincón Cuenca, María Fernanda Castro Peñaranda, Camilo Andres Calderón Valderrama, Santiago Aristizábal Ortiz & Andrés Felipe Herrera Ortiz. (2022) Diagnostic approach to Aicardi syndrome: A case report. Radiology Case Reports 17:9, pages 3035-3039.
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Bibiana K. Y. Wong & V. Reid Sutton. (2018) Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination. American Journal of Medical Genetics Part C: Seminars in Medical Genetics.
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Ignazio S Piras, Gabrielle Mills, Lorida Llaci, Marcus Naymik, Keri Ramsey, Newell Belnap, Chris D Balak, Wayne M Jepsen, Szabolcs Szelinger, Ashley L Siniard, Candace R Lewis, Madison LaFleur, Ryan F Richholt, Matt D De Both, Kristiina Avela, Sampathkumar Rangasamy, David W Craig, Vinodh Narayanan, Irma Järvelä, Matthew J Huentelman & Isabelle Schrauwen. (2017) Exploring genome-wide DNA methylation patterns in Aicardi syndrome. Epigenomics 9:11, pages 1373-1386.
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Arcot Sadagopan Karthikeyan & Adele S. Schneider. 2017. The Eye in Pediatric Systemic Disease. The Eye in Pediatric Systemic Disease 705 772 .
Harold ChenHarold Chen. 2017. Atlas of Genetic Diagnosis and Counseling. Atlas of Genetic Diagnosis and Counseling 61 66 .
Michael C. BrodskyMichael C. Brodsky. 2016. Pediatric Neuro-Ophthalmology. Pediatric Neuro-Ophthalmology 75 120 .
Harold ChenHarold Chen. 2014. Atlas of Genetic Diagnosis and Counseling. Atlas of Genetic Diagnosis and Counseling 1 7 .
Jayakara Shetty, Jenny Fraser, David Goudie & Martin Kirkpatrick. (2014) Aicardi syndrome in a 47 XXY male ? A variable developmental phenotype?. European Journal of Paediatric Neurology 18:4, pages 529-531.
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. 2012. Atlas of Genetic Diagnosis and Counseling. Atlas of Genetic Diagnosis and Counseling 49 53 .
Michelle T. Cabrera, Bryan J. Winn, Travis Porco, Zoe Strominger, A. James Barkovich, Creig S. Hoyt, Mari Wakahiro & Elliott H. Sherr. (2011) Laterality of Brain and Ocular Lesions in Aicardi Syndrome. Pediatric Neurology 45:3, pages 149-154.
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Tai-Heng Chen. (2009) Increasing Recognition of Cases With Male Aicardi Syndrome. Journal of Child Neurology 25:1, pages 129-129.
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Michael C. BrodskyMichael C. Brodsky. 2010. Pediatric Neuro-Ophthalmology. Pediatric Neuro-Ophthalmology 59 96 .
Gabriel M. Ronen, Mohammad Zubairi & Ronald F. Carter. (2009) Response to Correspondence on ‘‘A Male Phenotype With Aicardi Syndrome’’. Journal of Child Neurology 24:12, pages 1579-1580.
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Xiaoling Wang, V. Reid Sutton, Tanya N. Eble, Richard Alan Lewis, Preethi Gunaratne, Ankita Patel & Ignatia B. Van den Veyver. (2009) A genome-wide screen for copy number alterations in Aicardi syndrome. American Journal of Medical Genetics Part A 149A:10, pages 2113-2121.
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Tai-Heng Chen, Yuh-Jyh Jong, San Nan Yang & Hsiu-Lin Chen. (2009) Is the male Aicardi's characterized by 46 XXY karyotpe?. Journal of the Neurological Sciences 284:1-2, pages 222.
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Benjamin Aaron Kamien & Michael Terrence Gabbett. (2009) Aicardi syndrome associated with hepatoblastoma and pulmonary sequestration. American Journal of Medical Genetics Part A 149A:8, pages 1850-1852.
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Tanya N. Eble, V. Reid Sutton, Haleh Sangi-Haghpeykar, Xiaoling Wang, Weihong Jin, Richard A. Lewis, Ping Fang & Ignatia B. Van den Veyver. (2009) Non-random X chromosome inactivation in Aicardi syndrome. Human Genetics 125:2, pages 211-216.
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