Clinical Genetics & Genomics Department

2019

Pasmatzi E, Kousparos G, Mytidou C, Nicolaou N, Tanteles GA, Badavanis G, Monastirli A, Tsambaos D. Persistent generalized Grover disease: complete remission after treatment with oral acitretin. Dermatol Online J. 2019 Mar 15;25(3). 

2018

Andreou S, Panayiotou E, Michailidou K, Pirpa P, Hadjisavvas A, El Salloukh A,Barnes D, Antoniou A, Agathangelou P, Papastavrou K, Christodoulou K, Tanteles GA, Kyriakides T. Epidemiology of ATTRV30M neuropathy in Cyprus and the modifier effect of complement C1q on the age of disease onset. Amyloid. 2018 Dec;25(4):220-226.

Syrimis A, Nicolaou N, Alexandrou A, Papaevripidou I, Nicolaou M, Loukianou E,Sismani C, Malas S, Christophidou-Anastasiadou V, Tanteles GA. Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation. Mol Med Rep.2018 Aug;18(2):1623-1627.

Syrimis A, Nicolaou N, Alexandrou A, Papaevripidou I, Nicolaou M, Loukianou E,Christophidou-Anastasiadou V, Malas S, Sismani C, Tanteles GA. Aniridia due to a novel microdeletion affecting PAX6 regulatory enhancers: case report and review of the literature. J Genet. 2018 Jun;97(2):555-562.

2017

Demetriou CA, Heraclides A, Salafori C, Tanteles GA, Christodoulou K, ChristouY, Zamba-Papanicolaou E. Epidemiology of Huntington Disease in Cyprus: A 20-Year Retrospective Study. Clin Genet. 2017 Nov 6. doi: 10.1111/cge.13168. [Epub ahead of print] PubMed PMID: 29105741.

Lederer CW, Pavlou E, Tanteles GA, Evangelidou P, Sismani C, Kolnagou A, Sitarou M, Christou S, Hadjigavriel M, Kleanthous M. Hb A(2) Episkopi - a novel δ-globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot-Lebanese descent. Hematology. 2017 Jun;22(5):304-309.

Hadjichristou C, Christophidou-Anastasiadou V, Bakopoulou A, Tanteles GA, Loizidou MA, Kyriacou K, Hadjisavvas A, Michalakis K, Pissiotis A, Koidis P. Oculo-Dento-Digital Dysplasia (ODDD) Due to a GJA1 Mutation: Report of a Case with Emphasis on Dental Manifestations. Int J Prosthodont. 2017 May/June;30(3):280–285. doi: 10.11607/ijp.5130. Epub 2017 Mar 20.

Tanteles GA, Nicolaou N, Syrimis A, Metaxa R, Nicolaou M, Christophidou-Anastasiadou V, Skordis N. Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome. Clin Dysmorphol. 2017 Apr;26(2):61-65.

Aristidou C, Koufaris C, Theodosiou A, Bak M, Mehrjouy MM, Behjati F, Tanteles G, Christophidou-Anastasiadou V, Tommerup N, Sismani C. Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing. PLoS One. 2017 Jan 10;12(1):e0169935.

Christou YP, Tanteles GA, Kkolou E, Ormiston A, Konstantopoulos K, Beconi M,Marshall RD, Plotkin H, Kleopa KA. Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN. Case Rep Neurol Med. 2017;2017:3247034. doi: 10.1155/2017/3247034. Epub 2017 Apr 16.

Neocleous V, Fanis P, Toumba M, Phedonos AAP, Picolos M, Andreou E, Kyriakides TC, Tanteles GA, Shammas C, Phylactou LA, Skordis N. Variations in the 3'UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia. Int J Endocrinol. 2017;2017:8984365. doi: 10.1155/2017/8984365. Epub 2017 Apr 12.

2016

Alexandrou A, Papaevripidou I, Tsangaras K, Alexandrou I, Tryfonidis M, Christophidou-Anastasiadou V, Zamba-Papanicolaou E, Koumbaris G, Neocleous V,
Phylactou LA, Skordis N, Tanteles GA, Sismani C. Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin. J Genet. 2016 Dec;95(4):839-845.

Neocleous V, Byrou S, Toumba M, Costi C, Shammas C, Kyriakou C, Christophidou-Anastasiadou V, Tanteles GA, Hadjipanayis A, Phylactou LA. Evidence
of digenic inheritance in autoinflammation-associated genes. J Genet. 2016 Dec;95(4):761-766.

Jones GE, Robertson L, Maniyar A, Shammas C, Phelan MM, Vasudevan PC, Tanteles GA. Microform holoprosencephaly with bilateral congenital elbow
dislocation; increasing the phenotypic spectrum of Steinfeld syndrome. Am J Med Genet A. 2016 Mar;170(3):754-9.

Koufaris C, Alexandrou A, Tanteles GA, Anastasiadou V, Sismani C. A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in
the absence of cobalamin disorder. Biomed Rep. 2016 Feb;4(2):215-218. 

Georgiou T, Mavrikiou G, Alexandrou A, Spanou-Aristidou E, Savva I, Christodoulides T, Krasia M, Christophidou-Anastasiadou V, Sismani C, Drousiotou 
A, Tanteles GA. Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata. Case Rep Genet. 2016;2016:5208312. doi: 10.1155/2016/5208312. 

Loizidou MA, Hadjisavvas A, Tanteles GA, Spanou-Aristidou E, Kyriacou K, Christophidou-Anastasiadou V. Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report. Oncol Lett. 2016 Jan;11(1):471-473. 

2015

Tanteles GA, Nicolaou M, Neocleous V, Shammas C, Loizidou MA, Alexandrou A, Ellina E, Patsia N, Sismani C, Phylactou LA, Christophidou-Anastasiadou V.
Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas. J Genet. 2015 Dec;94(4):749-54.

Tanteles GA, Nicolaou M, Patsia N, Delikurt-Tuncalp T, Spanou-Aristidou E, Leonidou E, Kyriakides T, Christophidou-Anastasiadou V. A rare cause of pruritic 
ichthyosis: Sjögren-Larsson syndrome in the first reported patients of Cypriot descent. Eur J Dermatol. 2015 Sep-Oct;25(5):495-6.

Tanteles GA, Michaelidou S, Loukianou E, Christophidou-Anastasiadou V, Kleopa KA. Novel GLI3 mutation in a Greek-Cypriot patient with Greig
cephalopolysyndactyly syndrome. Clin Dysmorphol. 2015 Jul;24(3):102-5.

Koufaris C, Papagregoriou G, Kousoulidou L, Moutafi M, Tauber M, Jouret B, Kieffer I, Deltas C, Tanteles GA, Anastasiadou V, Patsalis PC, Sismani C.
Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities. Gene. 2015 Apr 25;561(1):95-100.

Tanteles GA, Alexandrou A, Evangelidou P, Gavatha M, Anastasiadou V, Sismani C. Partial MEF2C deletion in a Cypriot patient with severe intellectual
disability and a jugular fossa malformation: review of the literature. Am J Med Genet A. 2015 Mar;167A(3):664-9.

Neocleous V, Costi C, Kyriakou C, Kyriakides TC, Shammas C, Skordis N, Toumba M, Kyriakou S, Koliou M, Kousparou M, Onoufriou M, Hadjipanayis A, Iasonides M, Atamyan VN, Pierides A, Christophidou-Anastasiadou V, Tanteles GA, Phylactou LA.  Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients. Ann Hum Genet. 2015 Jan;79(1):20-7.

Tanteles GA, Nikolaou E, Christou Y, Alexandrou A, Evangelidou P, Christophidou-Anastasiadou V, Sismani C, Papacostas SS. Mild Phenotype in a
Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3. Case Rep Genet. 2015;2015:242891. doi: 10.1155/2015/242891. Epub 2015 Jul 29.

Delikurt T, Williamson GR, Anastasiadou V, Skirton H. A systematic review of factors that act as barriers to patient referral to genetic services. Eur J Hum
Genet. 2015 Jun;23(6):739-45. 

2014

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. The mutational spectrum of Lynch syndrome in cyprus. PLoS One. 2014 Aug 18;9(8):e105501.

Neocleous V, Costi C, Shammas C, Spanou E, Anastasiadou V, Tanteles GA, Phylactou LA. Spectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss
subjects. J Genet. 2014 Aug;93(2):471-6.

Tanteles GA, Spanou-Aristidou E, Antoniou C, Christophidou-Anastasiadou V, Kleopa KA. Novel homozygous PANK2 mutation causing atypical pantothenate
kinase-associated neurodegeneration (PKAN) in a Cypriot family. J Neurol Sci. 2014 May 15;340(1-2):233-6.

Neocleous V, Yiallouros PK, Tanteles GA, Costi C, Moutafi M, Ioannou P, Patsalis PC, Sismani C, Phylactou LA. Apparent Homozygosity of p.Phe508del in
CFTR due to a Large Gene Deletion of Exons 4-11. Case Rep Genet. 2014;2014:613863. doi: 10.1155/2014/613863.

Tanteles GA, Christophidou-Anastasiadou V. Ocular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association. Clin Dysmorphol. 2014 Jan;23(1):20-3.

2013

Tanteles GA, Dixit A, Dhar S, Suri M. Two Somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability. Am J Med Genet A. 2013 Oct;161A(10):2588-93.

Kousoulidou L, Tanteles G, Moutafi M, Sismani C, Patsalis PC, Anastasiadou V. 263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype. Eur J Med Genet. 2013 Jun;56(6):314-8. doi: 10.1016/j.ejmg.2013.03.005.

Dixit A, McKee S, Mansour S, Mehta SG, Tanteles GA, Anastasiadou V, Patsalis PC, Martin K, McCullough S, Suri M, Sarkar A. 7q11.23 Microduplication: a
recognizable phenotype. Clin Genet. 2013 Feb;83(2):155-61.