Tanteles GA - Search Results

1

A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder.

Koufaris C, Alexandrou A, Tanteles GA, Anastasiadou V, Sismani C. Koufaris C, et al. Among authors: tanteles ga. Biomed Rep. 2016 Feb;4(2):215-218. doi: 10.3892/br.2015.559. Epub 2015 Dec 18. Biomed Rep. 2016. PMID: 26893841 Free PMC article.

2

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. Among authors: tanteles ga. 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

3

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

4

Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11.

Neocleous V, Yiallouros PK, Tanteles GA, Costi C, Moutafi M, Ioannou P, Patsalis PC, Sismani C, Phylactou LA. Neocleous V, et al. Among authors: tanteles ga. Case Rep Genet. 2014;2014:613863. doi: 10.1155/2014/613863. Epub 2014 Feb 6. Case Rep Genet. 2014. PMID: 24649380 Free PMC article.

5

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. Among authors: tanteles ga. PLoS One. 2014 Aug 18;9(8):e105501. doi: 10.1371/journal.pone.0105501. eCollection 2014. PLoS One. 2014. PMID: 25133505 Free PMC article.

6

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. Among authors: tanteles ga. 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.

7

Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities.

Koufaris C, Papagregoriou G, Kousoulidou L, Moutafi M, Tauber M, Jouret B, Kieffer I, Deltas C, Tanteles GA, Anastasiadou V, Patsalis PC, Sismani C. Koufaris C, et al. Among authors: tanteles ga. Gene. 2015 Apr 25;561(1):95-100. doi: 10.1016/j.gene.2015.02.018. Epub 2015 Feb 11. Gene. 2015. PMID: 25680557

8

Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: review of the literature.

Tanteles GA, Alexandrou A, Evangelidou P, Gavatha M, Anastasiadou V, Sismani C. Tanteles GA, et al. Am J Med Genet A. 2015 Mar;167A(3):664-9. doi: 10.1002/ajmg.a.36945. Am J Med Genet A. 2015. PMID: 25691421 Review.

9

Genetic findings of Cypriot spinal muscular atrophy patients.

Theodorou L, Nicolaou P, Koutsou P, Georghiou A, Anastasiadou V, Tanteles G, Kyriakides T, Zamba-Papanicolaou E, Christodoulou K. Theodorou L, et al. Neurol Sci. 2015 Oct;36(10):1829-34. doi: 10.1007/s10072-015-2263-5. Epub 2015 May 28. Neurol Sci. 2015. PMID: 26017350

10

Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3.

Tanteles GA, Nikolaou E, Christou Y, Alexandrou A, Evangelidou P, Christophidou-Anastasiadou V, Sismani C, Papacostas SS. Tanteles GA, et al. Case Rep Genet. 2015;2015:242891. doi: 10.1155/2015/242891. Epub 2015 Jul 29. Case Rep Genet. 2015. PMID: 26294985 Free PMC article.

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