Aftimos S - Search Results

1

A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features.

Boudry-Labis E, Demeer B, Le Caignec C, Isidor B, Mathieu-Dramard M, Plessis G, George AM, Taylor J, Aftimos S, Wiemer-Kruel A, Kohlhase J, Annerén G, Firth H, Simonic I, Vermeesch J, Thuresson AC, Copin H, Love DR, Andrieux J. Boudry-Labis E, et al. Among authors: aftimos s. Eur J Med Genet. 2013 Mar;56(3):163-70. doi: 10.1016/j.ejmg.2012.12.006. Epub 2012 Dec 29. Eur J Med Genet. 2013. PMID: 23279911

2

Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay.

Al-Murrani A, Ashton F, Aftimos S, George AM, Love DR. Al-Murrani A, et al. Among authors: aftimos s. Case Rep Genet. 2012;2012:172408. doi: 10.1155/2012/172408. Epub 2012 May 22. Case Rep Genet. 2012. PMID: 23074684 Free PMC article.

3

A newborn with likely Okamoto syndrome.

Taylor J, Aftimos S. Taylor J, et al. Among authors: aftimos s. Clin Dysmorphol. 2010 Apr;19(2):103-106. doi: 10.1097/MCD.0b013e328337bb8d. Clin Dysmorphol. 2010. PMID: 20179579 No abstract available.

4

Implications of a Chr7q21.11 Microdeletion and the Role of the PCLO Gene in Developmental Delay.

Mazzaschi RL, Ashton F, Aftimos S, George AM, Love DR. Mazzaschi RL, et al. Among authors: aftimos s. Sultan Qaboos Univ Med J. 2013 May;13(2):306-10. doi: 10.12816/0003239. Epub 2013 May 9. Sultan Qaboos Univ Med J. 2013. PMID: 23862039 Free PMC article.

5

Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome.

Tan TY, Aftimos S, Worgan L, Susman R, Wilson M, Ghedia S, Kirk EP, Love D, Ronan A, Darmanian A, Slavotinek A, Hogue J, Moeschler JB, Ozmore J, Widmer R, Bruno D, Savarirayan R, Peters G. Tan TY, et al. Among authors: aftimos s. J Med Genet. 2009 Jul;46(7):480-9. doi: 10.1136/jmg.2008.065391. Epub 2009 May 15. J Med Genet. 2009. PMID: 19447831

6

Interstitial deletion of 10q23.1 and confirmation of three 10qdel syndromes.

Singh S, Aftimos S, George A, Love DR. Singh S, et al. Among authors: aftimos s. Singapore Med J. 2011 Jul;52(7):e143-6. Singapore Med J. 2011. PMID: 21808946 Free article.

7

Molecular characterisation of a der(Y)t(Xp;Yp) with Xp functional disomy and sex reversal.

Ashton F, O'Connor R, Love JM, Doherty E, Aftimos S, George A, Love DR. Ashton F, et al. Among authors: aftimos s. Genet Mol Res. 2010 Sep 14;9(3):1815-23. doi: 10.4238/vol9-3gmr896. Genet Mol Res. 2010. PMID: 20845307 Free article.

8

Pure duplication of the distal long arm of chromosome 15 with ebstein anomaly and clavicular anomaly.

O'Connor R, Al-Murrani A, Aftimos S, Asquith P, Mazzaschi R, Eyrolle-Guignot D, George AM, Love DR. O'Connor R, et al. Among authors: aftimos s. Case Rep Genet. 2011;2011:898706. doi: 10.1155/2011/898706. Epub 2011 Nov 13. Case Rep Genet. 2011. PMID: 23074681 Free PMC article.

9

Pseudotrisomy 13 syndrome: use of homozygosity mapping to target candidate genes.

Marquis-Nicholson R, Aftimos S, Ashton F, Love JM, Stone P, McFarlane J, George AM, Love DR. Marquis-Nicholson R, et al. Among authors: aftimos s. Gene. 2011 Oct 15;486(1-2):37-40. doi: 10.1016/j.gene.2011.06.028. Epub 2011 Jul 4. Gene. 2011. PMID: 21756987

10

Congenital diaphragmatic hernia is a feature of Opitz G/BBB syndrome.

Taylor J, Aftimos S. Taylor J, et al. Among authors: aftimos s. Clin Dysmorphol. 2010 Oct;19(4):225-226. doi: 10.1097/MCD.0b013e32833b2bd3. Clin Dysmorphol. 2010. PMID: 20823703 No abstract available.

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