Lista de obras - George Tanteles - Dominio Público Uruguay

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

artículo científico publicado en 2013

7q11.23 Microduplication: a recognizable phenotype

artículo científico publicado en 2012

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

artículo científico publicado en 2022

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

A novel mutation in NIPBL in a case of Cornelia de Lange syndrome confirmed with genetic testing following intrauterine fetal death. [Corrected].

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

Aniridia due to a novel microdeletion affecting regulatory enhancers: case report and review of the literature

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2020

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

Classification and aetiology of birth defects

article published in 2007

Denys–Drash syndrome and gonadoblastoma in a patient with Klinefelter syndrome

artículo científico publicado en 2011

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

scientific article published on 20 December 2018

Epidemiology of Huntington Disease in Cyprus: A 20-Year Retrospective Study

artículo científico publicado en 2017

Evidence of digenic inheritance in autoinflammation-associated genes

artículo científico publicado en 2016

Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Genetic findings of Cypriot spinal muscular atrophy patients.

artículo científico publicado en 2015

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

scientific article published on 01 December 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Hypertelorism, radial ray defects, dextrocardia, hypoplastic ribs and renal anomaly

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2006

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

article published in 2011

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

artículo científico publicado en 2018

Monozygotic twins discordant for trisomy 13: counselling and management issues

artículo científico publicado en 2012

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

artículo científico publicado en 2018

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

artículo científico publicado en 2020

Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

scientific article published on 01 April 2007

Spectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss subjects

artículo científico publicado en 2014

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With <i>KCNC2</i> Pathogenic Variants

scientific article published on 21 March 2022

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

artículo científico publicado en 2011

The mutational spectrum of Lynch syndrome in cyprus

artículo científico publicado en 2014

Two somali half-siblings withCHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability

scholarly article by George Tanteles et al published July 2013 in American Journal of Medical Genetics

Two unrelated individuals carrying rare mosaic deletions in TCF4 gene

artículo científico publicado en 2018

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

Lista de obras de George Tanteles

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

7q11.23 Microduplication: a recognizable phenotype

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

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

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

A novel mutation in NIPBL in a case of Cornelia de Lange syndrome confirmed with genetic testing following intrauterine fetal death. [Corrected].

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

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

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

Aniridia due to a novel microdeletion affecting regulatory enhancers: case report and review of the literature

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

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

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

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

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

Classification and aetiology of birth defects

Denys–Drash syndrome and gonadoblastoma in a patient with Klinefelter syndrome

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

Epidemiology of Huntington Disease in Cyprus: A 20-Year Retrospective Study

Evidence of digenic inheritance in autoinflammation-associated genes

Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients

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

Genetic findings of Cypriot spinal muscular atrophy patients.

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

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

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

Hypertelorism, radial ray defects, dextrocardia, hypoplastic ribs and renal anomaly

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

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

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

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

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

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

Monozygotic twins discordant for trisomy 13: counselling and management issues

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

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

Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata

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

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

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

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

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

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

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

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

Spectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss subjects

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With <i>KCNC2</i> Pathogenic Variants

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

The mutational spectrum of Lynch syndrome in cyprus

Two somali half-siblings withCHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability

Two unrelated individuals carrying rare mosaic deletions in TCF4 gene

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

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