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Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance.
Woodward KJ, Stampalia J, Vanyai H, Rijhumal H, Potts K, Taylor F, Peverall J, Grumball T, Sivamoorthy S, Alinejad-Rokny H, Wray J, Whitehouse A, Nagarajan L, Scurlock J, Afchani S, Edwards M, Murch A, Beilby J, Baynam G, Kiraly-Borri C, McKenzie F, Heng JIT. Woodward KJ, et al. Among authors: nagarajan l. Mol Genet Genomic Med. 2019 Feb;7(2):e00507. doi: 10.1002/mgg3.507. Epub 2019 Jan 4. Mol Genet Genomic Med. 2019. PMID: 30614210 Free PMC article.
Predictors of seizure onset in Rett syndrome.
Jian L, Nagarajan L, de Klerk N, Ravine D, Bower C, Anderson A, Williamson S, Christodoulou J, Leonard H. Jian L, et al. Among authors: nagarajan l. J Pediatr. 2006 Oct;149(4):542-7. doi: 10.1016/j.jpeds.2006.06.015. J Pediatr. 2006. PMID: 17011329
Seizures in Rett syndrome: an overview from a one-year calendar study.
Jian L, Nagarajan L, de Klerk N, Ravine D, Christodoulou J, Leonard H. Jian L, et al. Among authors: nagarajan l. Eur J Paediatr Neurol. 2007 Sep;11(5):310-7. doi: 10.1016/j.ejpn.2007.02.008. Epub 2007 Apr 11. Eur J Paediatr Neurol. 2007. PMID: 17433737 Free PMC article.
Valproate and risk of fracture in Rett syndrome.
Leonard H, Downs J, Jian L, Bebbington A, Jacoby P, Nagarajan L, Ravine D, Woodhead H. Leonard H, et al. Among authors: nagarajan l. Arch Dis Child. 2010 Jun;95(6):444-8. doi: 10.1136/adc.2008.148932. Arch Dis Child. 2010. PMID: 20501539
Leukodystrophy: when gallbladder offers a clue to diagnosis.
Shah S, Ghosh S, Nagarajan L. Shah S, et al. Among authors: nagarajan l. Pediatr Neurol. 2013 Jul;49(1):68-9. doi: 10.1016/j.pediatrneurol.2013.03.019. Pediatr Neurol. 2013. PMID: 23827431 No abstract available.
165 results