Leonard H - Search Results

1

A brief history of MECP2 duplication syndrome: 20-years of clinical understanding.

Ta D, Downs J, Baynam G, Wilson A, Richmond P, Leonard H. Ta D, et al. Among authors: leonard h. Orphanet J Rare Dis. 2022 Mar 21;17(1):131. doi: 10.1186/s13023-022-02278-w. Orphanet J Rare Dis. 2022. PMID: 35313898 Free PMC article. Review.

2

A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening.

Ellaway CJ, Badawi N, Raffaele L, Christodoulou J, Leonard H. Ellaway CJ, et al. Among authors: leonard h. Clin Dysmorphol. 2001 Jul;10(3):185-8. doi: 10.1097/00019605-200107000-00006. Clin Dysmorphol. 2001. PMID: 11446411

3

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.

Saxena A, de Lagarde D, Leonard H, Williamson SL, Vasudevan V, Christodoulou J, Thompson E, MacLeod P, Ravine D. Saxena A, et al. Among authors: leonard h. J Med Genet. 2006 Jun;43(6):470-7. doi: 10.1136/jmg.2005.036244. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155192 Free PMC article.

4

Predictors of scoliosis in Rett syndrome.

Ager S, Fyfe S, Christodoulou J, Jacoby P, Schmitt L, Leonard H. Ager S, et al. Among authors: leonard h. J Child Neurol. 2006 Sep;21(9):809-13. doi: 10.1177/08830738060210091501. J Child Neurol. 2006. PMID: 16970893

5

Development of a video-based evaluation tool in Rett syndrome.

Fyfe S, Downs J, McIlroy O, Burford B, Lister J, Reilly S, Laurvick CL, Philippe C, Msall M, Kaufmann WE, Ellaway C, Leonard H. Fyfe S, et al. Among authors: leonard h. J Autism Dev Disord. 2007 Oct;37(9):1636-46. doi: 10.1007/s10803-006-0293-9. Epub 2006 Dec 16. J Autism Dev Disord. 2007. PMID: 17180458

6

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: leonard h. 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.

7

Sleep problems in Rett syndrome.

Young D, Nagarajan L, de Klerk N, Jacoby P, Ellaway C, Leonard H. Young D, et al. Among authors: leonard h. Brain Dev. 2007 Nov;29(10):609-16. doi: 10.1016/j.braindev.2007.04.001. Epub 2007 May 24. Brain Dev. 2007. PMID: 17531413 Free PMC article.

8

The diagnosis of autism in a female: could it be Rett syndrome?

Young DJ, Bebbington A, Anderson A, Ravine D, Ellaway C, Kulkarni A, de Klerk N, Kaufmann WE, Leonard H. Young DJ, et al. Among authors: leonard h. Eur J Pediatr. 2008 Jun;167(6):661-9. doi: 10.1007/s00431-007-0569-x. Epub 2007 Aug 8. Eur J Pediatr. 2008. PMID: 17684768

9

Investigating genotype-phenotype relationships in Rett syndrome using an international data set.

Bebbington A, Anderson A, Ravine D, Fyfe S, Pineda M, de Klerk N, Ben-Zeev B, Yatawara N, Percy A, Kaufmann WE, Leonard H. Bebbington A, et al. Among authors: leonard h. Neurology. 2008 Mar 11;70(11):868-75. doi: 10.1212/01.wnl.0000304752.50773.ec. Neurology. 2008. PMID: 18332345

10

A guide for the assessment and management of vitamin D status in people with intellectual disability (developed as an AADDM Working Party initiative).

Vanlint S, Nugent M, Durvasula S, Downs J, Leonard H. Vanlint S, et al. Among authors: leonard h. J Intellect Dev Disabil. 2008 Jun;33(2):184-8. doi: 10.1080/13668250802015625. J Intellect Dev Disabil. 2008. PMID: 18569406 No abstract available.

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