V. Christophidou-Anastasiadou

发表

Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect

G. Tanteles, G. Christopoulos, M. Kleanthous, 2018, Journal of Endocrinological Investigation.

Familial Mediterranean Fever Associated with MEFV Mutations in a Large Cohort of Cypriot Patients

A. Pierides, A. Hadjipanayis, M. Koliou, 2015, Annals of human genetics.

Evidence of digenic inheritance in autoinflammation-associated genes

A. Hadjipanayis, G. Tanteles, C. Shammas, 2016, Journal of Genetics.

The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers

D. Zafeiriou, Z. Gucev, I. Pećin, 2021, Orphanet Journal of Rare Diseases.

Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation

C. Sismani, G. Tanteles, A. Alexandrou, 2018, Molecular medicine reports.

Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family

K. Kleopa, G. Tanteles, E. Spanou-Aristidou, 2014, Journal of the Neurological Sciences.

First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature

C. Sismani, G. Tanteles, A. Alexandrou, 2020 .

Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome

G. Tanteles, N. Nicolaou, N. Skordis, 2017, Clinical dysmorphology.

Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP

A. Green, R. Hofstra, S. Mansour, 2020, Human mutation.

Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms

A. Hadjisavvas, I. Sargiannidou, K. Kleopa, 2021, Frontiers in Genetics.

Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata

C. Sismani, A. Drousiotou, G. Tanteles, 2016, Case reports in genetics.

Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas

M. Loizidou, C. Sismani, G. Tanteles, 2015, Journal of Genetics.

Oculo-Dento-Digital Dysplasia (ODDD) Due to a GJA1 Mutation: Report of a Case with Emphasis on Dental Manifestations.

K. Kyriacou, M. Loizidou, A. Hadjisavvas, 2017, The International journal of prosthodontics.

Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing

C. Sismani, G. Tanteles, P. Evangelidou, 2022, Genes.

Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases

N. Tommerup, C. Sismani, M. Bak, 2018, PloS one.

Aniridia due to a novel microdeletion affecting PAX6\documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}$$\textit{PAX6}$$\en

C. Sismani, G. Tanteles, A. Alexandrou, 2018, Journal of Genetics.

Novel GLI3 mutation in a Greek–Cypriot patient with Greig cephalopolysyndactyly syndrome

K. Kleopa, G. Tanteles, Eleni Loukianou, 2015, Clinical dysmorphology.

Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing

N. Tommerup, C. Sismani, C. Koufaris, 2017, PloS one.

Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin

C. Sismani, K. Tsangaras, G. Tanteles, 2016, Journal of Genetics.

Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population

C. Sismani, B. Coste, G. Tanteles, 2021, PloS one.

Ocular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association.

G. Tanteles, V. Christophidou-Anastasiadou, 2014, Clinical dysmorphology.

Deletion of SNURF/SNRPN U1B and U1B* upstream exons in a child with developmental delay and excessive weight

C. Sismani, C. Koufaris, A. Alexandrou, 2016, Journal of Genetics.

A rare cause of pruritic ichthyosis: Sjögren-Larsson syndrome in the first reported patients of Cypriot descent

G. Tanteles, Eleni Leonidou, T. Kyriakides, 2015, European Journal of Dermatology.

Aniridia due to a novel microdeletion affecting $$\textit{PAX6}$$PAX6 regulatory enhancers: case report and review of the literature

C. Sismani, G. Tanteles, A. Alexandrou, 2018, Journal of Genetics.

De novo mosaic MECP2 mutation in a female with Rett syndrome

C. Sismani, G. Tanteles, P. Evangelidou, 2019, Clinical case reports.

Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report.

K. Kyriacou, M. Loizidou, A. Hadjisavvas, 2016, Oncology letters.

Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas

M. Loizidou, C. Sismani, G. Tanteles, 2015, Journal Genetika.

Evidence of digenic inheritance in autoinflammation-associated genes

A. Hadjipanayis, G. Tanteles, C. Shammas, 2016, Journal of Genetics.