V. Anastasiadou

发表

The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.

A. Drousiotou, E. Zammarchi, A. Morrone, 2005, Genetic testing.

A systematic review of factors that act as barriers to patient referral to genetic services

G. Williamson, H. Skirton, V. Anastasiadou, 2014, European Journal of Human Genetics.

The BRCA1 Variant p.Ser36Tyr Abrogates BRCA1 Protein Function and Potentially Confers a Moderate Risk of Breast Cancer

K. Kyriacou, M. Loizidou, A. Hadjisavvas, 2014, PloS one.

Genetic findings of Cypriot spinal muscular atrophy patients

K. Christodoulou, T. Kyriakides, E. Zamba-Papanicolaou, 2015, Neurological Sciences.

Ineffectiveness of captopril in reducing cystine excretion in cystinuric children

C. Bartsocas, H. Michelakakis, D. Delis, 1993, Journal of Inherited Metabolic Disease.

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

C. Sismani, C. Koufaris, G. Tanteles, 2016, Biomedical reports.

Geographical clustering of low density lipoprotein receptor gene mutations (C292X; Q363X; D365E & C660X) in Cyprus

S. Xenophontos, A. Pierides, K. Demetriou, 2000, Human mutation.

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

C. Sismani, P. Patsalis, I. Georgiou, 1999, American journal of medical genetics.

Early-onset presentation of a new subtype of β-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient.

P. Nicolaides, K. Christodoulou, V. Anastasiadou, 2020, European journal of medical genetics.

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.

J. Schuurs-Hoeijmakers, M. Genuardi, T. Kleefstra, 2022, European journal of medical genetics.

RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2

C. Deltas, G. Portides, L. Phylactou, 2011, Journal of endocrinological investigation.

C. Sismani, G. Tanteles, P. Evangelidou, 2018, American journal of medical genetics. Part A.

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.

C. Sismani, O. Žilina, P. Patsalis, 2011, European journal of medical genetics.

The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues

L. Gianaroli, S. Aymé, K. Sermon, 2006, European Journal of Human Genetics.

Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.

A. Drousiotou, T. Georgiou, V. Anastasiadou, 2014, Clinical biochemistry.

Patient report

C. Shammas, L. Phylactou, V. Anastasiadou, 2013 .

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

C. Sismani, C. Deltas, P. Patsalis, 1997, Genetic counseling.

Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community

A. Drousiotou, P. Ioannou, G. Christopoulos, 2000, Human Genetics.

RETproto-oncogenemutationsarerestrictedtocodon618 inCypriotfamilieswithmultipleendocrineneoplasia2

C. Deltas, G. Portides, L. Phylactou, 2011 .

BRCA1 and BRCA2 mutation testing in Cyprus; a population based study

K. Kyriacou, M. Loizidou, A. Hadjisavvas, 2017, Clinical genetics.

The Mutational Spectrum of Lynch Syndrome in Cyprus

K. Kyriacou, M. Loizidou, A. Hadjisavvas, 2014, PloS one.

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

C. Sismani, G. Tanteles, P. Evangelidou, 2015, American journal of medical genetics. Part A.

High frequency of 35delG GJB2 mutation and absence of del(GJB6-D13S1830) in Greek Cypriot patients with nonsyndromic hearing loss.

C. Panagi, L. Phylactou, V. Anastasiadou, 2006, Genetic testing.

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

C. Sismani, C. Koufaris, C. Deltas, 2015, Gene.

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

C. Sismani, S. Kitsiou‐Tzeli, P. Patsalis, 2008, Molecular Cytogenetics.

7q11.23 Microduplication: a recognizable phenotype

S. McKee, S. McCullough, A. Dixit, 2013, Clinical genetics.

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

Ludmila Kousoulidou, Philippos C. Patsalis, Carolina Sismani, 2013, European journal of medical genetics.

Mutation analysis of a Sandhoff disease patient in the Maronite community in Cyprus

A. Drousiotou, P. Ioannou, G. Stylianidou, 1994, Human Genetics.

A family with Camurati-Engelman disease. The role of the missense p.R218C mutation in TGFB1 in bones and endocrine glands

C. Shammas, L. Phylactou, V. Anastasiadou, 2013, Journal of pediatric endocrinology & metabolism : JPEM.

A family with Camurati-Engelman disease: the role of the missense p.R218C mutation in TGFbeta1 in bones and endocrine glands

C. Shammas, L. Phylactou, V. Anastasiadou, 2013, Journal of pediatric endocrinology & metabolism : JPEM.

Novel germline mutations in the APC gene of Cypriot patients with familial and sporadic adenomatous polyposis

K. Kyriacou, M. Loizidou, A. Hadjisavvas, 2006, Clinical genetics.

The rare DNA ligase IV syndrome: A case report

J. Chi, I. Kyprianou, V. Anastasiadou, 2020 .

Screening of 50 Cypriot Patients with Autism Spectrum Disorders or Autistic Features Using 400K Custom Array-CGH

P. Nicolaides, C. Sismani, P. Patsalis, 2013, BioMed research international.

Chromosomal imbalance letter 9 Mb familial duplication in chromosome band Xp22.2e22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features

C. Sismani, O. Žilina, P. Patsalis, 2022 .

Contribution of BRCA1 and BRCA2 germline mutations to the incidence of early‐onset breast cancer in Cyprus

K. Kyriacou, M. Loizidou, A. Hadjisavvas, 2007, Clinical genetics.

The need for interaction between assisted reproduction technology and genetics

L. Gianaroli, S. Aymé, K. Sermon, 2006, European Journal of Human Genetics.

The need for interaction between assisted reproduction technology and genetics: recommendations of the European Societies of Human Genetics and Human Reproduction and Embryology.

L. Gianaroli, S. Aymé, K. Sermon, 2006, Human reproduction.

Patenting and licensing in genetic testing: Recommendations of the European Society of Human Genetics

V. Anastasiadou, Gert Matthijs Leuven, 2008, European Journal of Human Genetics.

Cancer risks by sex and variant type in PTEN Hamartoma Tumor Syndrome.

J. Schuurs-Hoeijmakers, C. Houdayer, S. Aretz, 2022, Journal of the National Cancer Institute.

Spectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss subjects

G. Tanteles, C. Shammas, L. Phylactou, 2014, Journal of Genetics.

Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Greek Cypriot population.

G. Portides, L. Phylactou, V. Anastasiadou, 2006, International journal of pediatric otorhinolaryngology.

Biomedicine as a Socio-cultural and Ethical Challenge : Final Points to Consider and Recommendations for European and National Policy Makers and European Research

S. Schicktanz, C. Constantinou, M. Düwell, 2016 .

The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis

A. Drousiotou, M. Jackson, G. Christopoulos, 2014, Meta gene.

7q11.23 Microduplication: a recognizable phenotype

P. Patsalis, S. McCullough, A. Dixit, 2013, Clinical genetics.

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

C. Sismani, G. Tanteles, P. Evangelidou, 2015, American journal of medical genetics. Part A.

Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies

C. Sismani, P. Evangelidou, A. Alexandrou, 2024, Genes.

GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing

C. Sismani, A. Drousiotou, A. Alexandrou, 2023, Molecular genetics and metabolism reports.

The interface between medically assisted reproduction and genetics: technical, social, ethical and legal issues

L. Gianaroli, S. Aymé, K. Sermon, 2006 .