G. Tanteles

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A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity.

M. Sydes, D. Dearnaley, P. Pharoah, 2014, Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology.

A replicated association between polymorphisms near TNFα and risk for adverse reactions to radiotherapy

J Chang-Claude, N G Burnet, J. Chang-Claude, 2012, British Journal of Cancer.

Can cutaneous telangiectasiae as late normal-tissue injury predict cardiovascular disease in women receiving radiotherapy for breast cancer?

S. Chan, G. McCann, J. Barwell, 2009, British Journal of Cancer.

European lipodystrophy registry: background and structure

R. Hennekam, G. Nagel, F. Santini, 2020, Orphanet Journal of Rare Diseases.

Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry

P. Yiallouros, M. Macek, A. Eleftheriou, 2021, Orphanet Journal of Rare Diseases.

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.

NGS Panel Testing of Triple-Negative Breast Cancer Patients in Cyprus: A Study of BRCA-Negative Cases

K. Kyriacou, K. Michailidou, G. Spyrou, 2020, Cancers.

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.

Colin A. Ellis, M. Daly, I. Scheffer, 2020, Brain : a journal of neurology.

Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia

G. Tanteles, T. Kyriakides, C. Shammas, 2017, International journal of endocrinology.

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.

Standardized Total Average Toxicity score: a scale- and grade-independent measure of late radiotherapy toxicity to facilitate pooling of data from different studies.

A. Dunning, P. Pharoah, C. Coles, 2012, International journal of radiation oncology, biology, physics.

Denys-Drash syndrome and gonadoblastoma in a patient with Klinefelter syndrome.

M. Suri, G. Tanteles, M. Christian, 2011, Clinical dysmorphology.

Variation in telangiectasia predisposing genes is associated with overall radiation toxicity.

K. Cheung, S. Chan, J. Barwell, 2012, International journal of radiation oncology, biology, physics.

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

Ethan M. Goldberg, P. May, P. Striano, 2022, Neurology.

Evidence of digenic inheritance in autoinflammation-associated genes

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

A novel SLC30A10 missense variant associated with parkinsonism and dystonia without hypermanganesemia

A. Drousiotou, K. Christodoulou, G. Tanteles, 2020, Journal of the Neurological Sciences.

Monozygotic twins discordant for trisomy 13: counselling and management issues

A. Dixit, A. Sarkar, G. Tanteles, 2012, Journal of Perinatology.

A de novo SFMBT1 pathogenic variant identified in a boy with Poland syndrome

J. Chi, G. Tanteles, M. Iacovou, 2022, Cold Spring Harbor molecular case studies.

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.

P. de Knijff, B. Mulder, H. Brown, 2021, The Journal of clinical investigation.

GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A Genes in a Case Series and Review of the Literature

C. Mantzoros, G. Spyrou, Nicolas C. Nicolaides, 2020, Frontiers in Endocrinology.

Microcephaly, lissencephaly, Hirschsprung disease and tetralogy of Fallot: a new syndrome?

A. Rauch, M. Splitt, G. Tanteles, 2006, Clinical dysmorphology.

P. Yiallouros, M. Macek, A. Eleftheriou, 2021, Orphanet Journal of Rare Diseases.

Classification and aetiology of birth defects

M. Suri, G. Tanteles, 2007 .

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

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

Hypertelorism, radial ray defects, dextrocardia, hypoplastic ribs and renal anomaly: report of a second case and confirmation of the phenotype.

M. Suri, P. Vasudevan, G. Tanteles, 2012, Clinical dysmorphology.

Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN

H. Plotkin, K. Kleopa, M. Beconi, 2017, Case reports in neurological medicine.

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.

Mowat-Wilson syndrome: growth charts

J. Clayton-Smith, S. Bernasconi, R. Møller, 2020, Orphanet Journal of Rare Diseases.

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.

Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN).

M. Kempers, A. Baas, B. Loeys, 2022, European journal of medical genetics.

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

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.

Natural history of KBG syndrome in a large European cohort

N. Brunetti‐Pierri, F. Santorelli, T. Reimand, 2022, Human molecular genetics.

The frequency of central nervous system complications in the Cypriot cohort of ATTRV30M neuropathy transplanted patients

E. Dardiotis, K. Christodoulou, G. Tanteles, 2020, Neurological Sciences.

Epidemiology of ATTRV30M neuropathy in Cyprus and the modifier effect of complement C1q on the age of disease onset

A. Antoniou, K. Michailidou, A. Hadjisavvas, 2018, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty

K. Michailidou, Nicolas C. Nicolaides, D. Vlachakis, 2021, Frontiers in Endocrinology.

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

Michael R. Johnson, S. Gabriel, M. Daly, 2019, bioRxiv.

Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome

P. Vasudevan, G. Tanteles, M. Phelan, 2016, American journal of medical genetics. Part A.

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.

Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia

Andrea C. Kakouri, S. Salani, G. Spyrou, 2022, Cell & bioscience.

Persistent generalized Grover disease: complete remission after treatment with oral acitretin.

G. Tanteles, N. Nicolaou, D. Tsambaos, 2019, Dermatology online journal.

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.

Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions

Laura A. Crinnion, D. Bonthron, H. Lindsay, 2020, Laboratory Investigation.

The Mutational Spectrum of Lynch Syndrome in Cyprus

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

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.

A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature

K. Christodoulou, G. Tanteles, S. Papacostas, 2021, Frontiers in Genetics.

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

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

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.

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.

Heterozygous variants in KCNC2 cause a broad spectrum of epilepsy phenotypes associated with characteristic functional alterations

P. May, P. Striano, H. Lerche, 2021, medRxiv.

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

Ethan M. Goldberg, Joshua E. Motelow, I. Scheffer, 2021, American journal of human genetics.

Identification of novel splice mutation in SMAD3 in two Cypriot families with nonsyndromic thoracic aortic aneurysm. Two case reports

V. Barberis, K. Michailidou, G. Tanteles, 2020, Molecular genetics & genomic medicine.

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

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

Intrafamilial Phenotype Variability in Two Male Siblings, With X-linked Juvenile Retinoschisis and Dorzolamide Treatment Effect in the Natural History of the Disease

G. Tanteles, M. Stefaniotou, I. Katsimbris, 2019, Medical hypothesis, discovery & innovation ophthalmology journal.

An unusual combination of an atypical maternally inherited novel 0.3Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular aortic stenosis.

C. Sismani, G. Tanteles, P. Evangelidou, 2020, European journal of medical genetics.

The Spectrum of Genetic Defects in Congenital Adrenal Hyperplasia in the Population of Cyprus: A Retrospective Analysis

G. Tanteles, T. Kyriakides, C. Stylianou, 2018, Hormone and Metabolic Research.

Relatively mild phenotype in a patient with interstitial 6q24.3–q25.2 deletion

K. Yates, K. Martin, M. Suri, 2007, Clinical dysmorphology.

Association between single nucleotide polymorphisms in the DNA repair gene LIG3 and acute adverse skin reactions following radiotherapy.

K. Cheung, S. Chan, J. Barwell, 2011, Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology.

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

P. Yiallouros, C. Sismani, P. Patsalis, 2014, Case reports in genetics.

Gr upSM Challenges Associated with the Diagnosis of Mitochondrial Diseases : There is Still a Need for a Detective ’ s Work

K. Kyriacou, A. Hadjisavvas, G. Tanteles, 2015 .

Spectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss subjects

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

Mild phenotype in a patient with a de-novo 2.9-Mb interstitial deletion at 13q12.11

A. Dixit, K. Martin, M. Suri, 2011, Clinical dysmorphology.

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.

Two somali half‐siblings with CHST3‐related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability

A. Dixit, M. Suri, G. Tanteles, 2013, American Journal of Medical Genetics. Part A.

The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes

G. Tanteles, P. Fanis, L. Phylactou, 2023, Frontiers in Endocrinology.

Phenotype variability and different genotype of four patients with thyroid hormone resistance syndrome due to variants in the THRB gene.

G. Tanteles, P. Fanis, V. Neocleous, 2019, Hippokratia.

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.

Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene

C. Sismani, G. Tanteles, P. Evangelidou, 2023, Molecular Cytogenetics.

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

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

Jaccoud's arthropathy in Clericuzio-type poikiloderma with neutropenia.

M. Loizidou, A. Hadjisavvas, G. Tanteles, 2020, Rheumatology.

Hb A2 Episkopi – a novel δ-globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot–Lebanese descent

C. Sismani, G. Tanteles, P. Evangelidou, 2017, Hematology.

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Ethan M. Goldberg, Andreas M. Koupparis, W. C. Stewart, 2023, Nature Genetics.

7q11.23 Microduplication: a recognizable phenotype

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

Evidence of digenic inheritance in autoinflammation-associated genes

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

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

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