PubMed for Bookshelf ID: 1469142

Year	Number of Results
1989	1
2000	1
2001	1
2002	2
2004	1
2005	3
2007	3
2008	3
2009	7
2012	1
2014	1
2018	3
2020	1
2022	1
2024	0

1

Variation among DNA banking consent forms: points for clinicians to bank on.

Huang SJ, Amendola LM, Sternen DL. Huang SJ, et al. J Community Genet. 2022 Aug;13(4):389-397. doi: 10.1007/s12687-022-00601-3. Epub 2022 Jul 14. J Community Genet. 2022. PMID: 35834113 Free PMC article.

2

Aicardi Syndrome: Key Fetal MRI Features and Prenatal Differential Diagnosis.

Masnada S, Chiara D, Giana I, Manuela F, Marco S, Andrea A, Patrizia A, Nadia BB, Valeria C, Mara C, Bernardo DB, Francesca D, Valentina G, Elisa F, Miguel FRL, Carlo F, Lucio G, Simona O, Lorenzo P, Erika R, Antonino R, Mariasavina S, Carlotta S, Pierangelo V, Anna P, Andrea R, Cecilia P. Masnada S, et al. Neuropediatrics. 2020 Aug;51(4):276-285. doi: 10.1055/s-0040-1710528. Epub 2020 Jul 3. Neuropediatrics. 2020. PMID: 32620025

3

Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination.

Wong BKY, Sutton VR. Wong BKY, et al. Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):423-431. doi: 10.1002/ajmg.c.31658. Epub 2018 Dec 10. Am J Med Genet C Semin Med Genet. 2018. PMID: 30536540 Review.

4

Open-label use of highly purified CBD (Epidiolex®) in patients with CDKL5 deficiency disorder and Aicardi, Dup15q, and Doose syndromes.

Devinsky O, Verducci C, Thiele EA, Laux LC, Patel AD, Filloux F, Szaflarski JP, Wilfong A, Clark GD, Park YD, Seltzer LE, Bebin EM, Flamini R, Wechsler RT, Friedman D. Devinsky O, et al. Epilepsy Behav. 2018 Sep;86:131-137. doi: 10.1016/j.yebeh.2018.05.013. Epub 2018 Jul 11. Epilepsy Behav. 2018. PMID: 30006259 Free article.

5

High-dose Chemotherapy is Efficacious and Well Tolerated in a Toddler With Aicardi Syndrome and Malignant Sacrococcygeal Teratoma.

Wharton JD, Johnson S, Connelly JA, Hills T, Gingles L, Wood M, Crane GL, Katzenstein HM. Wharton JD, et al. J Pediatr Hematol Oncol. 2018 Oct;40(7):e467-e469. doi: 10.1097/MPH.0000000000001091. J Pediatr Hematol Oncol. 2018. PMID: 29420371

6

Aicardi syndrome in a 47 XXY male - a variable developmental phenotype?

Shetty J, Fraser J, Goudie D, Kirkpatrick M. Shetty J, et al. Eur J Paediatr Neurol. 2014 Jul;18(4):529-31. doi: 10.1016/j.ejpn.2014.03.004. Epub 2014 Mar 12. Eur J Paediatr Neurol. 2014. PMID: 24657013

7

Ophthalmologic findings in Aicardi syndrome.

Fruhman G, Eble TN, Gambhir N, Sutton VR, Van den Veyver IB, Lewis RA. Fruhman G, et al. J AAPOS. 2012 Jun;16(3):238-41. doi: 10.1016/j.jaapos.2012.01.008. J AAPOS. 2012. PMID: 22681940 Free PMC article.

8

Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy.

Bursztejn AC, Bronner M, Peudenier S, Grégoire MJ, Jonveaux P, Nemos C. Bursztejn AC, et al. Am J Med Genet A. 2009 Nov;149A(11):2493-500. doi: 10.1002/ajmg.a.33051. Am J Med Genet A. 2009. PMID: 19842196

9

A genome-wide screen for copy number alterations in Aicardi syndrome.

Wang X, Sutton VR, Eble TN, Lewis RA, Gunaratne P, Patel A, Van den Veyver IB. Wang X, et al. Am J Med Genet A. 2009 Oct;149A(10):2113-21. doi: 10.1002/ajmg.a.32976. Am J Med Genet A. 2009. PMID: 19760649 Free PMC article.

10

Aicardi syndrome in a male patient.

Anderson S, Menten B, Kogelenberg Mv, Robertson S, Waginger M, Mentzel HJ, Brandl U, Skirl G, Willems P. Anderson S, et al. Neuropediatrics. 2009 Feb;40(1):39-42. doi: 10.1055/s-0029-1220760. Epub 2009 Jul 28. Neuropediatrics. 2009. PMID: 19639527

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