Search Results - "Tanteles, George A."

Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population by Kritioti, Evie, Theodosiou, Athina, Parpaite, Thibaud, Alexandrou, Angelos, Nicolaou, Nayia, Papaevripidou, Ioannis, Séjourné, Nina, Coste, Bertrand, Christophidou-Anastasiadou, Violetta, Tanteles, George A, Sismani, Carolina

“…Multiple malformation syndromes (MMS) belong to a group of genetic disorders characterised by neurodevelopmental anomalies and congenital malformations. Here…”
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The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes by Fanis, Pavlos, Skordis, Nicos, Toumba, Meropi, Picolos, Michalis, Tanteles, George A, Neocleous, Vassos, Phylactou, Leonidas A

“…The study aimed to identify the pathogenic status of p.Gln319Ter (NM_000500.7: c.955C>T) variant when inherited in a single gene (bimodular RCCX haplotype) and…”
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A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature by Nicolaou, Paschalis, Tanteles, George A., Votsi, Christina, Zamba-Papanicolaou, Eleni, Papacostas, Savvas S., Christodoulou, Kyproula, Christou, Yiolanda-Panayiota

“…The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of autosomal recessive lysosomal storage disorders that are characterized…”
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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 by Neocleous, Vassos, Fanis, Pavlos, Toumba, Meropi, Tanteles, George A, Schiza, Melpo, Cinarli, Feride, Nicolaides, Nicolas C, Oulas, Anastasis, Spyrou, George M, Mantzoros, Christos S, Vlachakis, Dimitrios, Skordis, Nicos, Phylactou, Leonidas A

“…Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disease caused by Gonadotropin-Releasing Hormone (GnRH) deficiency. So far a limited number of…”
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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 by Yiallouros, Panayiotis K, Matthaiou, Andreas Î, Anagnostopoulou, Pinelopi, Kouis, Panayiotis, Libik, Malgorzata, Adamidi, Tonia, Eleftheriou, Adonis, Demetriou, Artemios, Ioannou, Phivos, Tanteles, George A, Costi, Constantina, Fanis, Pavlos, Macek, Milan, Neocleous, Vassos, Phylactou, Leonidas A

“…Abstract Background Specialized clinical care for cystic fibrosis (CF) in Cyprus, a small island country, has been implemented since the 1990s. However, only…”
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Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms by Sargiannidou, Irene, Christophidou-Anastasiadou, Violetta, Hadjisavvas, Andreas, Tanteles, George A, Kleopa, Kleopas A

“…Oculodentodigital dysplasia syndrome is associated with numerous pathogenic variants in , the gene encoding connexin43 gap junction protein. A novel in-frame…”
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Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene by Alexandrou, Angelos, Salameh, Nicole, Papaevripidou, Ioannis, Nicolaou, Nayia, Myrianthopoulos, Panayiotis, Ketoni, Andria, Kousoulidou, Ludmila, Anastasiou, Anna-Maria, Evangelidou, Paola, Tanteles, George A, Sismani, Carolina

“…Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple, circumscript and usually symmetric…”
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First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature by Evie Kritioti, Athina Theodosiou, Nayia Nicolaou, Angelos Alexandrou, Ioannis Papaevripidou, Elisavet Efstathiou, Violetta Christophidou-Anastasiadou, Carolina Sismani, Tanteles, George A.

“…Steel syndrome is an autosomal recessive disorder that primarily affects the skeletal system causing a variety of manifestations. Sixteen individuals with…”
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Inherited metabolic disorders in Cyprus by Georgiou, Theodoros, Petrou, Petros P., Malekkou, Anna, Ioannou, Ioannis, Gavatha, Marina, Skordis, Nicos, Nicolaidou, Paola, Savvidou, Irini, Athanasiou, Emilia, Ourani, Sofia, Papamichael, Elena, Vogazianos, Marios, Dionysiou, Maria, Mavrikiou, Gabriella, Grafakou, Olga, Tanteles, George A., Anastasiadou, Violetta, Drousiotou, Anthi

“…Selective screening for inherited metabolic disorders (IMD) began in Cyprus in 1990. Over the last thirty-three years 7388 patients were investigated for IMD…”
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The frequency of central nervous system complications in the Cypriot cohort of ATTRV30M neuropathy transplanted patients by Dardiotis, Efthimios, Andreou, Savanna, Aloizou, Athina-Maria, Panayiotou, Elena, Siokas, Vasileios, Ioannou, Mihaela Nedea, Vounou, Emmelia, Christodoulou, Kyproula, Tanteles, George A., Michaelides, Demos, Kyriakides, Theodoros

“…Background Hereditary transthyretin amyloidosis (ATTR) is a hereditary, sensorimotor and autonomic neuropathy caused by deposits of mutated transthyretin…”
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Epidemiology of ATTRV30M neuropathy in Cyprus and the modifier effect of complement C1q on the age of disease onset by Andreou, Savanna, Panayiotou, Elena, Michailidou, Kyriaki, Pirpa, Panayiota, Hadjisavvas, Andreas, El Salloukh, Adonis, Barnes, Daniel, Antoniou, Antonis, Agathangelou, Petros, Papastavrou, Katia, Christodoulou, Kyproula, Tanteles, George A., Kyriakides, Theodoros

“…Background: ATTRV30M amyloidosis is a lethal autosomal dominant sensorimotor and autonomic neuropathy caused by amyloid deposition composed of aggregated…”
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Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty by Neocleous, Vassos, Fanis, Pavlos, Toumba, Meropi, Gorka, Barbara, Kousiappa, Ioanna, Tanteles, George A, Iasonides, Michalis, Nicolaides, Nicolas C, Christou, Yiolanda P, Michailidou, Kyriaki, Nicolaou, Stella, Papacostas, Savvas S, Christoforidis, Athanasios, Kyriakou, Andreas, Vlachakis, Dimitrios, Skordis, Nicos, Phylactou, Leonidas A

“…Central precocious puberty (CPP) due to premature activation of GnRH secretion results in early epiphyseal fusion and to a significant compromise in the…”
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Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia by Kakouri, Andrea C, Votsi, Christina, Oulas, Anastasis, Nicolaou, Paschalis, Aureli, Massimo, Lunghi, Giulia, Samarani, Maura, Compagnoni, Giacomo M, Salani, Sabrina, Di Fonzo, Alessio, Christophides, Thalis, Tanteles, George A, Zamba-Papanicolaou, Eleni, Pantzaris, Marios, Spyrou, George M, Christodoulou, Kyproula

“…Spastic ataxias (SAs) encompass a group of rare and severe neurodegenerative diseases, characterized by an overlap between ataxia and spastic paraplegia…”
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Standardized Total Average Toxicity Score: A Scale- and Grade-Independent Measure of Late Radiotherapy Toxicity to Facilitate Pooling of Data From Different Studies by Barnett, Gillian C., B.M., B.Ch, West, Catharine M.L., Ph.D, Coles, Charlotte E., Ph.D, Pharoah, Paul D.P., Ph.D, Talbot, Christopher J., Ph.D, Elliott, Rebecca M., M.Res, Tanteles, George A., M.D, Symonds, R. Paul, M.D, Wilkinson, Jennifer S., B.Sc, Dunning, Alison M., Ph.D, Burnet, Neil G., M.D, Bentzen, Søren M., Ph.D

“…Purpose The search for clinical and biologic biomarkers associated with late radiotherapy toxicity is hindered by the use of multiple and different endpoints…”
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Identification of novel splice mutation in SMAD3 in two Cypriot families with nonsyndromic thoracic aortic aneurysm. Two case reports by Keravnou, Anna, Bashiardes, Evy, Barberis, Vassilis, Michailidou, Kyriaki, Soteriou, Marinos, Tanteles, George A., Cariolou, Marios A.

“…Background Thoracic aortic aneurysm and dissection (TAA/D) represents a potentially lethal disease group characterized by an increased risk of dissection or…”
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A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder by KOUFARIS, COSTAS, ALEXANDROU, ANGELOS, TANTELES, GEORGE A, ANASTASIADOU, VIOLETTA, SISMANI, CAROLINA

“…Approximately 10-15% of intellectual disability (ID) cases are caused by genetic aberrations affecting chromosome X, a condition termed X-linked ID (XLID)…”
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The mutational spectrum of Lynch syndrome in cyprus by Loizidou, Maria A, Neophytou, Ioanna, Papamichael, Demetris, Kountourakis, Panteleimon, Vassiliou, Vassilios, Marcou, Yiola, Kakouri, Eleni, Ioannidis, Georgios, Philippou, Chrystalla, Spanou, Elena, Tanteles, George A, Anastasiadou, Violetta, Hadjisavvas, Andreas, Kyriacou, Kyriacos

“…Lynch syndrome is the most common form of hereditary colorectal cancer and is caused by germline mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6…”
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Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia by Phylactou, Leonidas A., Skordis, Nicos, Shammas, Christos, Kyriakides, Tassos C., Andreou, Elena, Picolos, Michalis, Phedonos, Alexia A. P., Toumba, Meropi, Fanis, Pavlos, Neocleous, Vassos, Tanteles, George A.

“…Heterozygosity for CYP21A2 mutations in females is possibly related to increased risk of developing clinical hyperandrogenism. The present study was designed…”
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Variation in Telangiectasia Predisposing Genes Is Associated With Overall Radiation Toxicity by Tanteles, George A., MD, Murray, Robert J.S., PhD, Mills, Jamie, MBChB, Barwell, Julian, MD, PhD, Chakraborti, Prabir, DM, Chan, Steve, DM, Cheung, Kwok-Leung, DM, Ennis, Dawn, DCR(T), Khurshid, Nazish, MSc, Lambert, Kelly, MBBS, Machhar, Rohan, MSc, Meisuria, Mitul, BSc, Osman, Ahmed, MBChB, Peat, Irene, MD, Sahota, Harjinder, BSc, Woodings, Pamela, MD, Talbot, Christopher J., PhD, Symonds, R. Paul, MD

“…Purpose In patients receiving radiotherapy for breast cancer where the heart is within the radiation field, cutaneous telangiectasiae could be a marker of…”
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Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN by Kleopa, Kleopas A., Plotkin, Horacio, Beconi, Maria, Konstantopoulos, Kostas, Ormiston, Annita, Kkolou, Elena, Tanteles, George A., Christou, Yiolanda, Marshall, Randall D.

“…Objective. Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder with variable onset, rate of progression, and phenotypic…”
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