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39 results for SYNODINOS,+JOANNE+TRAEGER

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ArticlesPeer ReviewedFull Text
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies
Author / Creator:Tamana, Stella ; Xenophontos, Maria ; Minaidou, Anna ; Stephanou, Coralea ; Harteveld, Cornelis L ; Bento, Celeste ; Traeger-Synodinos, Joanne ; Fylaktou, Irene ; Yasin, Norafiza Mohd ; Abdul Hamid, Faidatul Syazlin ; Esa, Ezalia ; Halim-Fikri, Hashim ; Zilfalil, Bin Alwi ; Kakouri, Andrea C ; Kleanthous, Marina ; Kountouris, Petros
Publisher:England: eLife Sciences Publications Ltd
Journal title:eLife, 2022-12, Vol.11
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SDH‐deficient renal cell carcinoma: A case report associated with a novel germline mutation
Author / Creator:Milionis, Vassilis ; Goutas, Dimitrios ; Vlachodimitropoulos, Dimitrios ; Katsoulas, Nikolaos ; Kyriazis, Iason D. ; Liatsikos, Evangelos N. ; Marinakis, Nikolaos ; Joanne, Traeger‐Synodinos ; Lazaris, Andreas C. ; Goutas, Nikolaos
Publisher:England: John Wiley & Sons, Inc
Journal title:Clinical case reports, 2021-10, Vol.9 (10), p.e04605-n/a
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Reproductive Choices in Haemoglobinopathies: The Role of Preimplantation Genetic Testing
Author / Creator:Kakourou, Georgia ; Vrettou, Christina ; Mamas, Thalia ; Traeger-Synodinos, Joanne
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2025-03, Vol.16 (4), p.360
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Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature
Author / Creator:Veltra, Danai ; Marinakis, Nikolaos M. ; Kotsios, Ioannis ; Delaporta, Polyxeni ; Kekou, Kyriaki ; Kosma, Konstantina ; Traeger-Synodinos, Joanne ; Sofocleous, Christalena
Publisher:Switzerland: MDPI AG
Journal title:Children (Basel), 2024-06, Vol.11 (6), p.705
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ENaC gene variants and their involvement in Covid‑19 severity
Author / Creator:Koniari, Eleni ; Hatziagapiou, Kyriaki ; Nikola, Alexandra ; Georgoulia, Konstantina ; Marinakis, Nikolaos ; Bakakos, Petros ; Athanasopoulou, Athanasia ; Koromilias, Athanasios ; Rovina, Nikoletta ; Efthymiou, Vasiliki ; Papakonstantinou, Eleni ; Vlachakis, Dimitrios ; Mavrikou, Sophia ; Koutsoukou, Antonia ; Traeger‑Synodinos, Joanne ; Chrousos, George
Publisher:England: Spandidos Publications
Journal title:Biomedical reports, 2024-12, Vol.21 (6), p.176, Article 176
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Heterozygosity of the Complex Corfu δ0β+ Thalassemic Allele (HBD Deletion and HBB:c.92+5G>A) Revisited
Author / Creator:Kattamis, Christos ; Skafida, Myrto ; Delaporta, Polyxeni ; Vrettou, Christina ; Traeger-Synodinos, Joanne ; Sofocleous, Christalena ; Kattamis, Antonis
Publisher:Switzerland: MDPI AG
Journal title:Biology (Basel, Switzerland), 2022-03, Vol.11 (3), p.432
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Real‐time PCR for single‐cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis
Author / Creator:Vrettou, Christina ; Traeger‐Synodinos, Joanne ; Tzetis, Maria ; Palmer, Giles ; Sofocleous, Christalena ; Kanavakis, Emmanuel
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2004-05, Vol.23 (5), p.513-521
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Detection of acquired hemoglobinopathy in children with hematological malignancies at disease onset: results form a national referral centre
Author / Creator:Maritsi, Despoina N. ; Kosmidis, Helen V. ; Douna, Varvara ; Traeger-Synodinos, Joanne ; Tsolia, Maria N. ; Kossiva, Lydia
Publisher:Tokyo: Springer Japan
Journal title:International journal of hematology, 2013-11, Vol.98 (5), p.563-568
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Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype
Author / Creator:FYLAKTOU, IRENE ; MEGREMIS, SPYRIDON ; MITSIONI, ANDROMACHI ; KITSIOU-TZELI, SOFIA ; KOSMA, KONSTANTINA ; BITSORI, MARIA ; STEFANIDIS, CONSTANTINOS J ; KANAVAKIS, EMMANUEL ; SYNODINOS, JOANNE TRAEGER
Publisher:India: Springer-Verlag
Journal title:Journal of genetics, 2013-12, Vol.92 (3), p.577-581
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ArticlesPeer ReviewedFull Text
Photoprotein aequorin as a novel reporter for SNP genotyping by primer extension-application to the variants of mannose-binding lectin gene
Author / Creator:Zerefos, Panayotis G. ; Ioannou, Penelope C. ; Traeger-Synodinos, Joanne ; Dimissianos, Gerasimos ; Kanavakis, Emmanuel ; Christopoulos, Theodore K.
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2006-03, Vol.27 (3), p.279-285
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Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of β-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management
Author / Creator:Traeger-Synodinos, Joanne ; Vrettou, Christina ; Sofocleous, Christalena ; Zurlo, Matteo ; Finotti, Alessia ; Gambari, Roberto
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-03, Vol.25 (6), p.3400
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A ITMEM63A/I Nonsense Heterozygous Variant Linked to Infantile Transient Hypomyelinating Leukodystrophy Type 19?
Author / Creator:Siori, Dimitra ; Vlachakis, Dimitrios ; Makrythanasis, Periklis ; Traeger-Synodinos, Joanne ; Veltra, Danai ; Kampouraki, Afrodite ; Chrousos, George P
Publisher:MDPI AG
Journal title:Genes, 2024-05, Vol.15 (5)
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EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies
Author / Creator:Traeger-Synodinos, Joanne ; Harteveld, Cornelis L ; Old, John M ; Petrou, Mary ; Galanello, Renzo ; Giordano, Piero ; Angastioniotis, Michael ; De la Salle, Barbara ; Henderson, Shirley ; May, Alison
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-04, Vol.23 (4), p.426-437
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SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations
Author / Creator:Veltra, Danai ; Theodorou, Virginia ; Katsalouli, Marina ; Vorgia, Pelagia ; Niotakis, Georgios ; Tsaprouni, Triantafyllia ; Pons, Roser ; Kosma, Konstantina ; Kampouraki, Afroditi ; Tsoutsou, Irene ; Makrythanasis, Periklis ; Kekou, Kyriaki ; Traeger-Synodinos, Joanne ; Sofocleous, Christalena
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-06, Vol.25 (11), p.5644
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A TMEM63A Nonsense Heterozygous Variant Linked to Infantile Transient Hypomyelinating Leukodystrophy Type 19?
Author / Creator:Siori, Dimitra ; Vlachakis, Dimitrios ; Makrythanasis, Periklis ; Traeger-Synodinos, Joanne ; Veltra, Danai ; Kampouraki, Afrodite ; Chrousos, George P.
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2024-04, Vol.15 (5), p.525
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Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases
Author / Creator:Tilemis, Faidon-Nikolaos ; Marinakis, Nikolaos M. ; Veltra, Danai ; Svingou, Maria ; Kekou, Kyriaki ; Mitrakos, Anastasios ; Tzetis, Maria ; Kosma, Konstantina ; Makrythanasis, Periklis ; Traeger-Synodinos, Joanne ; Sofocleous, Christalena
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-07, Vol.14 (7), p.1490
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Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study
Author / Creator:Dreesen, Jos ; Destouni, Aspasia ; Kourlaba, Georgia ; Degn, Birte ; Mette, Wulf Christensen ; Carvalho, Filipa ; Moutou, Celine ; Sengupta, Sioban ; Dhanjal, Seema ; Renwick, Pamela ; Davies, Steven ; Kanavakis, Emmanouel ; Harton, Gary ; Traeger-Synodinos, Joanne
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2014-08, Vol.22 (8), p.1012-1018
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Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia
Author / Creator:Harteveld, Cornelis L. ; Achour, Ahlem ; Fairuz Mohd Hasan, Nik Fatma ; Legebeke, Jelmer ; Arkesteijn, Sandra J. G. ; Huurne, Jeanet ter ; Verschuren, Maaike ; Bhagwandien-Bisoen, Sharda ; Schaap, Rianne ; Vijfhuizen, Linda ; Idrissi, Hakima el ; Babbs, Christian ; Higgs, Douglas R. ; Koopmann, Tamara T. ; Vrettou, Christina ; Traeger-Synodinos, Joanne ; Baas, Frank
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-08, Vol.25 (16), p.8928
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A Greek National Cross-Sectional Study on Myotonic Dystrophies
Author / Creator:Papadimas, Georgios K. ; Papadopoulos, Constantinos ; Kekou, Kyriaki ; Kartanou, Chrisoula ; Kladi, Athina ; Nitsa, Evangelia ; Sofocleous, Christalena ; Tsanou, Evangelia ; Sarmas, Ioannis ; Kaninia, Stefania ; Chroni, Elisabeth ; Tsivgoulis, Georgios ; Kimiskidis, Vasilios ; Arnaoutoglou, Marianthi ; Stefanis, Leonidas ; Panas, Marios ; Koutsis, Georgios ; Karadima, Georgia ; Traeger-Synodinos, Joanne
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2022-12, Vol.23 (24), p.15507
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ArticlesPeer ReviewedFull Text
Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children
Author / Creator:Christodoulaki, Vasileia ; Kosma, Konstantina ; Marinakis, Nikolaos M. ; Tilemis, Faidon-Nikolaos ; Stergiou, Nikolaos ; Kampouraki, Afroditi ; Kapogiannis, Charalampos ; Karava, Vasiliki ; Mitsioni, Andromachi ; Mila, Maria ; Kanaka-Gantenbein, Christina ; Makrythanasis, Periklis ; Tzetis, Maria ; Traeger-Synodinos, Joanne
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2024-08, Vol.15 (8), p.1016
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Showing 1 to 20 of 39 results

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Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies

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SDH‐deficient renal cell carcinoma: A case report associated with a novel germline mutation

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Reproductive Choices in Haemoglobinopathies: The Role of Preimplantation Genetic Testing

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Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature

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ENaC gene variants and their involvement in Covid‑19 severity

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Heterozygosity of the Complex Corfu δ0β+ Thalassemic Allele (HBD Deletion and HBB:c.92+5G>A) Revisited

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Real‐time PCR for single‐cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis

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Detection of acquired hemoglobinopathy in children with hematological malignancies at disease onset: results form a national referral centre

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Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype

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Photoprotein aequorin as a novel reporter for SNP genotyping by primer extension-application to the variants of mannose-binding lectin gene

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Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of β-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management

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A ITMEM63A/I Nonsense Heterozygous Variant Linked to Infantile Transient Hypomyelinating Leukodystrophy Type 19?

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EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies

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SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations

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A TMEM63A Nonsense Heterozygous Variant Linked to Infantile Transient Hypomyelinating Leukodystrophy Type 19?

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Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases

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Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study

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Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia

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A Greek National Cross-Sectional Study on Myotonic Dystrophies

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Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children

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