Works matching AU Tanteles, George A.
Results: 41
The frequency of central nervous system complications in the Cypriot cohort of ATTRV30M neuropathy transplanted patients.
- Published in:
- 2020
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- Publication type:
- journal article
Oculo-Dento-Digital Dysplasia (ODDD) Due to a GJA1 Mutation: Report of a Case with Emphasis on Dental Manifestations.
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- 2017
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- Publication type:
- journal article
Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11.
- Published in:
- 2014
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- Publication type:
- Case Study
Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata.
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- Case Reports in Genetics, 2016, p. 1, doi. 10.1155/2016/5208312
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- Publication type:
- Article
The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes.
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- Frontiers in Endocrinology, 2023, p. 01, doi. 10.3389/fendo.2023.1156616
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- Publication type:
- Article
Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia.
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- International Journal of Endocrinology, 2017, p. 1, doi. 10.1155/2017/8984365
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- Publication type:
- Article
Two unrelated individuals carrying rare mosaic deletions in TCF4 gene.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 134, doi. 10.1002/ajmg.a.60692
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- Publication type:
- Article
Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.
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- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09515-4
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- Publication type:
- Article
Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.
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- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09515-4
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- Publication type:
- Article
A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder.
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- Biomedical Reports, 2016, v. 4, n. 2, p. 215, doi. 10.3892/br.2015.559
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- Publication type:
- Article
Identification of novel splice mutation in SMAD3 in two Cypriot families with nonsyndromic thoracic aortic aneurysm. Two case reports.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1378
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- Publication type:
- Article
A de novo SFMBT1 pathogenic variant identified in a boy with Poland syndrome.
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- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 3, p. 1, doi. 10.1101/mcs.a006168
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- Publication type:
- Article
Hb A 2 Episkopi – a novel δ -globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot–Lebanese descent.
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- Hematology, 2017, v. 22, n. 5, p. 304, doi. 10.1080/10245332.2016.1265043
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- Article
Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing.
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- Genes, 2023, v. 14, n. 1, p. 82, doi. 10.3390/genes14010082
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- Article
Familial Mediterranean Fever Associated with MEFV Mutations in a Large Cohort of Cypriot Patients.
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- Annals of Human Genetics, 2015, v. 79, n. 1, p. 1, doi. 10.1111/ahg.12087
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- Publication type:
- Article
Aniridia due to a novel microdeletion affecting PAX6 regulatory enhancers: case report and review of the literature.
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- Journal of Genetics, 2018, v. 97, n. 2, p. 555, doi. 10.1007/s12041-018-0925-9
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- Article
Evidence of digenic inheritance in autoinflammation-associated genes.
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- Journal of Genetics, 2016, v. 95, n. 4, p. 761, doi. 10.1007/s12041-016-0691-5
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- Publication type:
- Article
Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.
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- Journal of Genetics, 2016, v. 95, n. 4, p. 839, doi. 10.1007/s12041-016-0698-y
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- Publication type:
- Article
Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas.
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- Journal of Genetics, 2015, v. 94, n. 4, p. 749, doi. 10.1007/s12041-015-0564-3
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- Publication type:
- Article
Spectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss subjects.
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- Journal of Genetics, 2014, v. 93, n. 2, p. 471, doi. 10.1007/s12041-014-0365-0
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- Publication type:
- Article
Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report.
- Published in:
- 2016
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- Publication type:
- Case Study
Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia.
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- Cell & Bioscience, 2022, v. 12, n. 1, p. 1, doi. 10.1186/s13578-022-00754-1
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- Publication type:
- Article
Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty.
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- Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.745048
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- Publication type:
- Article
Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN.
- Published in:
- 2017
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- Publication type:
- Case Study
Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing.
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- PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0169935
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- Publication type:
- Article
European lipodystrophy registry: background and structure.
- Published in:
- 2020
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- Publication type:
- journal article
A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature.
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- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.746101
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- Publication type:
- Article
Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms.
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- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.604806
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- Publication type:
- Article
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.
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- Frontiers in Endocrinology, 2020, v. 11, p. N.PAG, doi. 10.3389/fendo.2020.00626
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- Publication type:
- Article
Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene.
- Published in:
- 2023
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- Publication type:
- Case Study
NGS Panel Testing of Triple-Negative Breast Cancer Patients in Cyprus: A Study of BRCA -Negative Cases.
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- Cancers, 2020, v. 12, n. 11, p. 3140, doi. 10.3390/cancers12113140
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- Publication type:
- Article
Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population.
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- PLoS ONE, 2021, v. 16, n. 7, p. 1, doi. 10.1371/journal.pone.0253562
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- Publication type:
- Article
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.
- Published in:
- 2021
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- Publication type:
- journal article
Spinal muscular atrophy type I associated with a novel SMN1 splicing variant that disrupts the expression of the functional transcript.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1241195
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- Publication type:
- Article
Epidemiology of ATTRV30M neuropathy in Cyprus and the modifier effect of complement C1q on the age of disease onset.
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- Amyloid, 2018, v. 25, n. 4, p. 220, doi. 10.1080/13506129.2018.1534731
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- Publication type:
- Article
De novo mosaic MECP2 mutation in a female with Rett syndrome.
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- Clinical Case Reports, 2019, v. 7, n. 2, p. 366, doi. 10.1002/ccr3.1985
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- Publication type:
- Article
Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation.
- Published in:
- Molecular Medicine Reports, 2018, v. 18, n. 2, p. 1623, doi. 10.3892/mmr.2018.9126
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- Publication type:
- Article
The Mutational Spectrum of Lynch Syndrome in Cyprus.
- Published in:
- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0105501
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- Publication type:
- Article
Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 754, doi. 10.1002/ajmg.a.37511
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- Publication type:
- Article
Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: Review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 664, doi. 10.1002/ajmg.a.36945
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- Publication type:
- Article
Two somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2588, doi. 10.1002/ajmg.a.36094
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- Publication type:
- Article