Anastasiadou VC - Search Results

1

Two unrelated individuals carrying rare mosaic deletions in TCF4 gene.

Kousoulidou L, Alexandrou A, Papaevripidou I, Evangelidou P, Tanteles G, Anastasiadou VC, Sismani C. Kousoulidou L, et al. Among authors: anastasiadou vc. Am J Med Genet A. 2019 Jan;179(1):134-138. doi: 10.1002/ajmg.a.60692. Epub 2018 Nov 18. Am J Med Genet A. 2019. PMID: 30450687 Free PMC article. No abstract available.

2

Cytogenetic and fragile X molecular testing of individuals with mental retardation of unknown etiology.

Patsalis PC, Sismani C, Hadjimarcou MI, Rose N, Stylianidou G, Koukoulli R, Anastasiadou V, Deltas CC, Middleton L. Patsalis PC, et al. Genet Couns. 1997;8(1):1-6. Genet Couns. 1997. PMID: 9101271

3

Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stability.

Patsalis PC, Sismani C, Hettinger JA, Boumba I, Georgiou I, Stylianidou G, Anastasiadou V, Koukoulli R, Pagoulatos G, Syrrou M. Patsalis PC, et al. Am J Med Genet. 1999 May 28;84(3):184-90. Am J Med Genet. 1999. PMID: 10331587

4

Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype.

Sismani C, Kitsiou-Tzeli S, Ioannides M, Christodoulou C, Anastasiadou V, Stylianidou G, Papadopoulou E, Kanavakis E, Kosmaidou-Aravidou Z, Patsalis PC. Sismani C, et al. Mol Cytogenet. 2008 Jul 21;1:15. doi: 10.1186/1755-8166-1-15. Mol Cytogenet. 2008. PMID: 18644119 Free PMC article.

5

9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features.

Sismani C, Anastasiadou V, Kousoulidou L, Parkel S, Koumbaris G, Zilina O, Bashiardes S, Spanou E, Kurg A, Patsalis PC. Sismani C, et al. Eur J Med Genet. 2011 Sep-Oct;54(5):e510-5. doi: 10.1016/j.ejmg.2011.05.006. Epub 2011 Jun 17. Eur J Med Genet. 2011. PMID: 21684358

6

7q11.23 Microduplication: a recognizable phenotype.

Dixit A, McKee S, Mansour S, Mehta SG, Tanteles GA, Anastasiadou V, Patsalis PC, Martin K, McCullough S, Suri M, Sarkar A. Dixit A, et al. Clin Genet. 2013 Feb;83(2):155-61. doi: 10.1111/j.1399-0004.2012.01862.x. Epub 2012 Apr 8. Clin Genet. 2013. PMID: 22369319

7

263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.

Kousoulidou L, Tanteles G, Moutafi M, Sismani C, Patsalis PC, Anastasiadou V. Kousoulidou L, et al. Eur J Med Genet. 2013 Jun;56(6):314-8. doi: 10.1016/j.ejmg.2013.03.005. Epub 2013 Mar 23. Eur J Med Genet. 2013. PMID: 23528641

8

Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.

Kousoulidou L, Moutafi M, Nicolaides P, Hadjiloizou S, Christofi C, Paradesiotou A, Anastasiadou V, Sismani C, Patsalis PC. Kousoulidou L, et al. Biomed Res Int. 2013;2013:843027. doi: 10.1155/2013/843027. Epub 2013 Oct 24. Biomed Res Int. 2013. PMID: 24260744 Free PMC article.

9

The mutational spectrum of Lynch syndrome in cyprus.

Loizidou MA, Neophytou I, Papamichael D, Kountourakis P, Vassiliou V, Marcou Y, Kakouri E, Ioannidis G, Philippou C, Spanou E, Tanteles GA, Anastasiadou V, Hadjisavvas A, Kyriacou K. Loizidou MA, et al. PLoS One. 2014 Aug 18;9(8):e105501. doi: 10.1371/journal.pone.0105501. eCollection 2014. PLoS One. 2014. PMID: 25133505 Free PMC article.

10

Spectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss subjects.

Neocleous V, Costi C, Shammas C, Spanou E, Anastasiadou V, Tanteles GA, Phylactou LA. Neocleous V, et al. J Genet. 2014 Aug;93(2):471-6. doi: 10.1007/s12041-014-0365-0. J Genet. 2014. PMID: 25189242 Free article. No abstract available.

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