J. Traeger-Synodinos

发表

The causes of misdiagnosis and adverse outcomes in PGD.

K. Sermon, L. Wilton, A. Thornhill, 2009, Human reproduction.

Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome.

E. Kanavakis, J. Traeger-Synodinos, C. Stefanidis, 2009, Genetic testing and molecular biomarkers.

Prenatal diagnosis of the thalassaemia syndromes by rapid DNA analytical methods.

M. Tzetis, E. Kanavakis, J. Traeger-Synodinos, 1997, Molecular human reproduction.

The ESHRE PGD Consortium: 10 years of data collection.

J C Harper, C. Moutou, V. Goossens, 2012, Human reproduction update.

Pre-implantation genetic diagnosis.

J. Traeger-Synodinos, 2017, Best practice & research. Clinical obstetrics & gynaecology.

BEST PRACTICE RECOMMENDATIONS

Michael Angastiniotis, John Old, Joanne Traeger-Synodinos, 2012 .

Mutations in the chromatin‐associated protein ATRX

I. Krantz, D. Goudie, D. Steensma, 2008, Human mutation.

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

T. K. Christopoulos, E. Kanavakis, J. Traeger-Synodinos, 2006, Human mutation.

PREVENTION AND DIAGNOSIS OF HAEMOGLOBINOPATHIES A SHORT GUIDE FOR HEALTH PROFESSIONALS AND LABORATORY SCIENTISTS

J. Traeger-Synodinos, M. Angastiniotis, M. Petrou, 2018 .

Pregnancies following blastocyst stage transfer in PGD cycles at risk for beta-thalassaemic haemoglobinopathies.

M. Tzetis, E. Kanavakis, J. Traeger-Synodinos, 2002, Human reproduction.

Molecular Studies of β-Thalassemia Heterozygotes with Raised Hb F Levels

I. Papassotiriou, E. Kanavakis, J. Traeger-Synodinos, 2000 .

Scanning of β‐globin gene for identification of β‐thalassemia mutation in Romanian population

J. Traeger-Synodinos, D. Coriu, L. Gavrilă, 2004, Journal of cellular and molecular medicine.

Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping

E. de Bruijn, S. Pulit, G. T. te Meerman, 2017, American journal of human genetics.

Preconception carrier screening and prenatal diagnosis in thalassemia and hemoglobinopathies: challenges and future perspectives

J. Traeger-Synodinos, C. Harteveld, 2017, Expert review of molecular diagnostics.

A high incidence of mutations in exon 6 of the low‐density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation

S. Humphries, I. Day, E. Kanavakis, 1997 .

Rapid Detection of Fetal Mendelian Disorders: Thalassemia and Sickle Cell Syndromes.

E. Kanavakis, J. Traeger-Synodinos, C. Vrettou, 2018, Methods in molecular biology.

Rapid detection of fetal Mendelian disorders: thalassemia and sickle cell syndromes.

E. Kanavakis, J. Traeger-Synodinos, C. Vrettou, 2008, Methods in molecular biology.

Real-time PCR for prenatal and preimplantation genetic diagnosis of monogenic diseases.

J. Traeger-Synodinos, 2006, Molecular aspects of medicine.

ESHRE PGD consortium best practice guidelines for amplification-based PGD.

C. Moutou, M. De Rycke, J. Traeger-Synodinos, 2011, Human reproduction.

ESHRE PGD consortium best practice guidelines for organization of a PGD centre for PGD/preimplantation genetic screening.

L. Wilton, J. Traeger-Synodinos, J. Harper, 2011, Human reproduction.

The c.504T>C (p.Asn168Asn) polymorphism in the ABCB4 gene as a predisposing factor for intrahepatic cholestasis of pregnancy in Greece

A. Tsezou, E. Roma, J. Traeger-Synodinos, 2010, Liver international : official journal of the International Association for the Study of the Liver.

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

M. Tzetis, E. Kanavakis, J. Traeger-Synodinos, 2004, Human mutation.

Low total antioxidant status is implicated with high 8-hydroxy-2-deoxyguanosine serum concentrations in phenylketonuria.

I. Papassotiriou, J. Traeger-Synodinos, K. Schulpis, 2005, Clinical biochemistry.

The Corfu δβ thalassaemia mutation in Greece: haematological phenotype and prevalence

M. Tzetis, E. Kanavakis, J. Traeger-Synodinos, 1991 .

Molecular, haematological and clinical studies of the −101 C → T substitution of the β‐globin gene promoter in 25 β‐thalassaemia intermedia patients and 45 heterozygotes

J. Traeger-Synodinos, M. Tzetis, E. Kanavakis, 1999, British journal of haematology.

Hb MONT SAINT AIGNAN [β128(H6)Ala → Pro]: A NEW UNSTABLE VARIANT LEADING TO CHRONIC MICROCYTIC ANEMIA

I. Papassotiriou, J. Traeger-Synodinos, H. Wajcman, 2001, Hemoglobin.

Prevention of Thalassaemias and Other Haemoglobin Disorders

Bernadette Modell, Eric Jauniaux, Michael Angastiniotis, 2013 .

Best Practice Guidelines for carrier identification and prenatal diagnosis of haemoglobinopathies

J. Traeger-Synodinos, R. Galanello, M. Petrou, 2002 .

Phenotypic and molecular diversity of haemoglobin H disease: a Greek experience

I. Papassotiriou, E. Kanavakis, J. Traeger-Synodinos, 2000, British journal of haematology.

A widely applicable strategy for single cell genotyping of β‐thalassaemia mutations using DGGE analysis: application to preimplantation genetic diagnosis

M. Tzetis, E. Kanavakis, J. Traeger-Synodinos, 1999, Prenatal diagnosis.

Preimplantation genetic diagnosis in 10 couples at risk for transmitting β‐thalassaemia major: clinical experience including the initiation of six singleton pregnancies

M. Tzetis, E. Kanavakis, J. Traeger-Synodinos, 1999, Prenatal diagnosis.

Preimplantation genetic diagnosis in clinical practice

E. Kanavakis, J. Traeger-Synodinos, 2002, Journal of medical genetics.

ESHRE PGD Consortium data collection X: cycles from January to December 2007 with pregnancy follow-up to October 2008.

C. Moutou, V. Goossens, M. De Rycke, 2010, Human reproduction.

ESHRE PGD Consortium data collection V: cycles from January to December 2002 with pregnancy follow-up to October 2003.

N. Muntjewerff, K. Vesela, C. Moutou, 2008, Human reproduction.

What next for preimplantation genetic screening (PGS)? A position statement from the ESHRE PGD Consortium Steering Committee.

K. Vesela, C. Moutou, V. Goossens, 2010, Human reproduction.

ESHRE PGD Consortium data collection VIII: cycles from January to December 2005 with pregnancy follow-up to October 2006.

C. Moutou, K. Sermon, V. Goossens, 2008, Human reproduction.

A rare example that coinheritance of a severe form of β-thalassemia and α-thalassemia interact in a “synergistic” manner to balance the phenotype of classic thalassemic syndromes

I. Papassotiriou, E. Kanavakis, J. Traeger-Synodinos, 2004 .

Erythroid bone marrow activity and red cell hemoglobinization in iron sufficient beta-thalassemia heterozygotes as reflected by soluble transferrin receptor and reticulocyte hemoglobin in content. Correlation with genotypes and Hb A(2) levels.

I. Papassotiriou, E. Kanavakis, J. Traeger-Synodinos, 2003, Haematologica.

The triplicated α‐globin gene locus in β‐thalassaemia heterozygotes: clinical, haematological, biosynthetic and molecular studies

J. Traeger-Synodinos, E. Kanavakis, J. Traeger-Synodinos, 1996 .

Genetic screening of hypertensive patients with aldosterone hypersecretion under conditions of stress

C. Tsigos, N. Katsanis, J. Traeger-Synodinos, 2022, Hormones.

Pre-implantation HLA matching: The production of a Saviour Child.

J. Traeger-Synodinos, C. Vrettou, Maria Moutafi, 2017, Best practice & research. Clinical obstetrics & gynaecology.

High-throughput microtiter well-based chemiluminometric genotyping of 15 HBB gene mutations in a dry-reagent format.

T. K. Christopoulos, E. Kanavakis, J. Traeger-Synodinos, 2007, Clinical chemistry.

Unusual phenotypic observations associated with a rare HbH disease genotype (‐ ‐Med/αTSaudiα): implications for clinical management

I. Papassotiriou, E. Kanavakis, J. Traeger-Synodinos, 2002 .

A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder.

E. Kanavakis, J. Traeger-Synodinos, S. Kitsiou-Tzeli, 2010, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

A Rare Thalassemic Syndrome Caused by Interaction of Hb Adana [α59(E8)Gly→Asp] with an α+-Thalassemia Deletion: Clinical Aspects in Two Cases

I. Papassotiriou, E. Kanavakis, J. Traeger-Synodinos, 2008, Hemoglobin.

Rare beta-thalassemia alleles in the Greek and Greek Cypriot populations.

E. Kanavakis, J. Traeger-Synodinos, C. Vrettou, 1998, Hemoglobin.

Erythroid marrow activity and functional anemia in patients with the rare interaction of a single functional a-globin and beta-globin gene.

I. Papassotiriou, E. Kanavakis, J. Traeger-Synodinos, 2001, Haematologica.

Iron Erythroid marrow activity and functional anemia in patients with the rare interaction of a single functional α-globin and β-globin gene

I. Papassotiriou, E. Kanavakis, J. Traeger-Synodinos, 2022 .

Severe hypertriglyceridaemia in diabetic ketoacidosis: clinical and genetic study

E. Kanavakis, J. Traeger-Synodinos, S. Stabouli, 2004, Diabetic medicine : a journal of the British Diabetic Association.

Severe hypertriglyceridaemia in a Greek infant: a clinical, biochemical and genetic study

A. Bossios, E. Kanavakis, J. Traeger-Synodinos, 2004, European Journal of Pediatrics.

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

J. Traeger-Synodinos, M. Tsolia, H. Kosmidis, 2013, International Journal of Hematology.

Preliminary mutation analysis in the phenylanaline hydroxylase gene in Greek PKU and HPA patients

E. Kanavakis, J. Traeger-Synodinos, C. Kattamis, 1994, Human Genetics.

Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome.

P. Vorgia, J. Traeger-Synodinos, H. Fryssira, 2007, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Two novel variants in the TCF12 gene identified in cases with craniosynostosis

J. Traeger-Synodinos, A. Kolialexi, M. Gavra, 2019, The application of clinical genetics.

Novel and Known Microsatellite Markers Within the β-Globin Cluster to Support Robust Preimplantation Genetic Diagnosis of β-Thalassemia and Sickle Cell Syndromes

E. Kanavakis, J. Traeger-Synodinos, C. Vrettou, 2011, Hemoglobin.

High-throughput microtiter well-based bioluminometric genotyping of two single-nucleotide polymorphisms in the toll-like receptor-4 gene.

T. K. Christopoulos, E. Kanavakis, J. Traeger-Synodinos, 2008, Analytical biochemistry.

Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years

P. Vorgia, G. Tsivgoulis, J. Traeger-Synodinos, 2020, Journal of neuromuscular diseases.

Hemoglobinopathies and preimplantation diagnostics

J. Traeger-Synodinos, C. Vrettou, G. Kakourou, 2022, International journal of laboratory hematology.

MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders

E. Kanavakis, J. Traeger-Synodinos, S. Kitsiou-Tzeli, 2012, Brain and Development.

Reprogramming of bone marrow derived mesenchymal stromal cells to human induced pluripotent stem cells from pediatric patients with hematological diseases using a commercial mRNA kit.

M. Tzetis, E. Kanavakis, J. Traeger-Synodinos, 2019, Blood cells, molecules & diseases.

ESHRE PGD Consortium data collection VI: cycles from January to December 2003 with pregnancy follow-up to October 2004.

K. Vesela, C. Moutou, S. Viville, 2007, Human reproduction.

ESHRE PGD Consortium data collection IX: cycles from January to December 2006 with pregnancy follow-up to October 2007.

C. Moutou, V. Goossens, J. Traeger-Synodinos, 2009, Human reproduction.

An Electronic Infrastructure for Research and Treatment of the Thalassemias and Other Hemoglobinopathies: The Euro-Mediterranean Ithanet Project

A. Zafeiropoulos, F. Grosveld, R. Gambari, 2009, Hemoglobin.

Genetic screening of hypertensive patients with aldosterone hypersecretion under conditions of stress

C. Tsigos, N. Katsanis, J. Traeger-Synodinos, 2022, Hormones.

A high incidence of mutations in exon 6 of the low-density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation.

S. Humphries, I. Day, E. Kanavakis, 1997, Human mutation.

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

S. Dhanjal, C. Moutou, J. Dreesen, 2013, European Journal of Human Genetics.

ESHRE PGD Consortium data collection XIII: cycles from January to December 2010 with pregnancy follow-up to October 2011.

C. Moutou, V. Goossens, M. De Rycke, 2015, Human reproduction.

ESHRE PGD Consortium data collection XII: cycles from January to December 2009 with pregnancy follow-up to October 2010.

C. Moutou, V. Goossens, M. De Rycke, 2014, Human reproduction.

ESHRE PGD consortium data collection VII: cycles from January to December 2004 with pregnancy follow-up to October 2005.

C. Moutou, S. Viville, K. Sermon, 2008, Human reproduction.

Bilateral Gonadoblastoma in a 6-Year Old Girl With Frasier Syndrome: Need for Early Preventive Gonadectomy.

J. Traeger-Synodinos, M. Papagianni, S. Stabouli, 2022, Journal of pediatric hematology/oncology.

PGD for X-linked and gender-dependent disorders using a robust, flexible single-tube PCR protocol.

E. Kanavakis, J. Traeger-Synodinos, C. Vrettou, 2009, Reproductive biomedicine online.

Sertoli cell tumor and gonadoblastoma in an untreated 29-year-old 46,XY phenotypic male with Frasier syndrome carrying a WT1 IVS9+4C>T mutation

C. Stefanadis, E. Kanavakis, J. Traeger-Synodinos, 2012, Hormones.

Blastocyst biopsy versus cleavage stage biopsy and blastocyst transfer for preimplantation genetic diagnosis of beta-thalassaemia: a pilot study.

A. Trounson, J. Traeger-Synodinos, E. Kanavakis, 2007, Human reproduction.

Birth of a healthy infant following trophectoderm biopsy from blastocysts for PGD of β-thalassaemia major: Case report

A. Trounson, E. Kanavakis, J. Traeger-Synodinos, 2005 .

Characterization of nondeletion α‐thalassemia mutations in the Greek population

M. Tzetis, E. Kanavakis, J. Traeger-Synodinos, 1993 .

Case Report: A Novel Synonymous ARPC1B Gene Mutation Causes a Syndrome of Combined Immunodeficiency, Asthma, and Allergy With Significant Intrafamilial Clinical Heterogeneity

J. Traeger-Synodinos, C. Kanaka-Gantenbein, M. Kanariou, 2021, Frontiers in Immunology.

Observation of a Rare Hemoglobin Variant [Hb Lulu Island, β107(G9)Gly→Asp, GGC→GAC] Co-Inherited With a β+-Thalassemia Mutation [IVS-I-110 (G→A)] or in the Heterozygous State in a Greek-Albanian Family

I. Papassotiriou, E. Kanavakis, J. Traeger-Synodinos, 2006, Hemoglobin.

Molecular characterization of homozygous (high HbA2) beta-thalassemia intermedia in Greece.

M. Tzetis, E. Kanavakis, J. Traeger-Synodinos, 1995, Pediatric hematology and oncology.

The molecular basis of normal HbA2 (type 2) beta-thalassemia in Greece.

M. Tzetis, E. Kanavakis, J. Traeger-Synodinos, 1994, Hematologic pathology.

Rapid screening of multiple beta-globin gene mutations by real-time PCR on the LightCycler: application to carrier screening and prenatal diagnosis of thalassemia syndromes.

Christina Vrettou, Joanne Traeger-Synodinos, M. Tzetis, 2003, Clinical chemistry.

Molecular studies of beta-thalassemia heterozygotes with raised Hb F levels.

I. Papassotiriou, E. Kanavakis, J. Traeger-Synodinos, 2000, Hemoglobin.

Rapid and accurate quantitation of Hb Bart's and Hb H using weak cation exchange high performance liquid chromatography: correlation with the alpha-thalassemia genotype.

I. Papassotiriou, E. Kanavakis, J. Traeger-Synodinos, 1999, Hemoglobin.

An alpha-thalassemic hemoglobinopathy: homozygosity for the HB Agrinio alpha 2-globin chain variant.

I. Papassotiriou, E. Kanavakis, J. Traeger-Synodinos, 1998, Hemoglobin.

A Rare 33 bp In‐Frame Deletion (α63–74 or α64–74 or α65–75) in the α1‐Globin Gene Causing α+‐Thalassemia: A Second Observation

I. Papassotiriou, E. Kanavakis, J. Traeger-Synodinos, 2004 .

Hb SITIA [β128(H6)Ala→Val]: AN UNSTABLE VARIANT WITH A SUBSTITUTION IN THE α1β1 INTERFACE

I. Papassotiriou, E. Kanavakis, M. Marden, 2001 .

Distinct Phenotypic Expression Associated with a New Hyperunstable Alpha Globin Variant (Hb Heraklion, α1cd37(C2)Pro>0): Comparison to Other α-Thalassemic Hemoglobinopathies

I. Papassotiriou, E. Kanavakis, J. Traeger-Synodinos, 2000 .

Hb Aghia Sophia [alpha62(E11)Val-->0 (alpha1)], an "in-frame" deletion causing alpha-thalassemia.

J. Traeger-Synodinos, E. Kanavakis, J. Traeger-Synodinos, 1999, Hemoglobin.

Noninvasive prenatal diagnosis of β‐thalassaemia using individual fetal erythroblasts isolated from maternal blood after enrichment

R. Burgemeister, J. Traeger-Synodinos, E. Kanavakis, 2007 .

Prenatal, noninvasive and preimplantation genetic diagnosis of inherited disorders: hemoglobinopathies

E. Kanavakis, J. Traeger-Synodinos, C. Vrettou, 2011, Expert review of molecular diagnostics.

Abnormal DLK1/MEG3 imprinting correlates with decreased HERV-K methylation after assisted reproduction and preimplantation genetic diagnosis

G. Chrousos, J. Traeger-Synodinos, G. Markopoulos, 2013, Stress.

A new gene associated with a beta-thalassemia phenotype: the observation of variants in SUPT5H.

F. Baas, C. Ruivenkamp, J. Traeger-Synodinos, 2020, Blood.

239-kb Microdeletion Spanning KMT2E in a Child with Developmental Delay: Further Delineation of the Phenotype

M. Tzetis, J. Traeger-Synodinos, K. Varvagiannis, 2021, Molecular Syndromology.

Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high‐risk individuals

M. Tzetis, E. Kanavakis, A. Efthymiadou, 2003, Clinical genetics.

The clinical utility of PGD with HLA matching: a collaborative multi-centre ESHRE study

S. Kahraman, C. Giménez, J. Traeger-Synodinos, 2018, Human reproduction.

ESHRE PGD Consortium data collection XI: cycles from January to December 2008 with pregnancy follow-up to October 2009.

C. Moutou, V. Goossens, M. De Rycke, 2012, Human reproduction.

An economic analysis of preimplantation genetic testing for aneuploidy by polar body biopsy in advanced maternal age

P. Bossuyt, J. Traeger-Synodinos, R. Vonthein, 2020, BJOG : an international journal of obstetrics and gynaecology.

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

Andrea C. Kakouri, B. Zilfalil, J. Traeger-Synodinos, 2022, bioRxiv.

Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders

J. Traeger-Synodinos, C. Sofocleous, H. Fryssira, 2021, American journal of medical genetics. Part A.

Prevention of Thalassaemias and Other Haemoglobin Disorders: Volume 2: Laboratory Protocols

J. Traeger-Synodinos, R. Galanello, M. Angastiniotis, 2012 .

Prenatal diagnosis of hemoglobin disorders: present and future strategies.

J. Traeger-Synodinos, C. Harteveld, M. Kleanthous, 2009, Clinical biochemistry.

Complex preimplantation genetic diagnosis for beta-thalassaemia, sideroblastic anaemia, and human leukocyte antigen (HLA)-typing

E. Kanavakis, J. Traeger-Synodinos, C. Vrettou, 2016, Systems biology in reproductive medicine.

The triplicated alpha-globin gene locus in beta-thalassaemia heterozygotes: clinical, haematological, biosynthetic and molecular studies.

E. Kanavakis, J. Traeger-Synodinos, C. Vrettou, 1996, British journal of haematology.

Phenotypic and Genotypic Variability in Four Males With MECP2 Gene Sequence Aberrations Including a Novel Deletion

Joanne Traeger-Synodinos, E. Kanavakis, J. Traeger-Synodinos, 2010, Pediatric Research.

Successful long-term immunologic reconstitution by allogeneic hematopoietic stem cell transplantation cures patients with autosomal dominant hyper-IgE syndrome.

F. Tzortzatou-Stathopoulou, E. Kanavakis, J. Traeger-Synodinos, 2010, The Journal of allergy and clinical immunology.

Characterization of nondeletion alpha-thalassemia mutations in the Greek population.

M. Tzetis, E. Kanavakis, J. Traeger-Synodinos, 1993, American journal of hematology.

A rare example that coinheritance of a severe form of beta-thalassemia and alpha-thalassemia interact in a "synergistic" manner to balance the phenotype of classic thalassemic syndromes.

I. Papassotiriou, E. Kanavakis, J. Traeger-Synodinos, 2004, Blood Cells, Molecules & Diseases.

The homozygous state for Hb Crete [beta129 (H7) Ala-->Pro] is associated with a complex phenotype including erythrocytosis and functional anemia.

I. Papassotiriou, E. Kanavakis, M. Marden, 2005, Blood cells, molecules & diseases.

β+-Thalassemia Trait Due to a Novel Mutation in the β-Globin Gene Promoter: −26 (A>C) [HBB c.−76A>C]

E. Kanavakis, J. Traeger-Synodinos, B. Eng, 2011, Hemoglobin.

Ovarian insufficiency and secondary amenorrhea in a patient with a novel variant within GDF9 gene

J. Traeger-Synodinos, C. Kanaka-Gantenbein, C. Sofocleous, 2022, Menopause.

Psychomotor development of children born after preimplantation genetic diagnosis and parental stress evaluation

J. Traeger-Synodinos, E. Critselis, D. Kafetzis, 2012, World Journal of Pediatrics.

Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms

P. Vorgia, M. Tzetis, J. Traeger-Synodinos, 2023, Expert review of molecular diagnostics.

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

J. Traeger-Synodinos, S. Henderson, R. Galanello, 2014, European Journal of Human Genetics.

An Overview of Current Microarray-Based Human Globin Gene Mutation Detection Methods

G. Patrinos, M. Ferrari, J. Traeger-Synodinos, 2007, Hemoglobin.

An evaluation of PGD in clinical genetic services through 3 years application for prevention of beta-thalassaemia major and sickle cell thalassaemia.

M. Tzetis, E. Kanavakis, J. Traeger-Synodinos, 2003, Molecular human reproduction.

Association of unstable hemoglobin variants and heterozygous β‐thalassemia: Example of a new variant Hb acharnes or [β53(D4) Ala → Thr]

I. Papassotiriou, E. Kanavakis, J. Traeger-Synodinos, 1999 .

Hematologic phenotype of the mutations IVS1-n6 (T-->C), IVS1-n110 (G-->A), and CD39 (C-->T) in carriers of beta-thalassemia in Greece.

J. Traeger-Synodinos, M. Tzetis, E. Kanavakis, 1994, Pediatric hematology and oncology.

First Observation of Hb Taybe [Codons 38/39 (−Acc) Thr→0 (α1)] In Greece: Clinical and Hematological Findings in Patients With Co-Inherited α+-Thalassemia Mutations

I. Papassotiriou, E. Kanavakis, J. Traeger-Synodinos, 2008, Hemoglobin.

A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype

J. Traeger-Synodinos, C. Sofocleous, K. Kosma, 2022, American journal of medical genetics. Part A.

A Greek National Cross-Sectional Study on Myotonic Dystrophies

V. Kimiskidis, G. Koutsis, M. Panas, 2022, International journal of molecular sciences.

FETAL DNA ANALYSIS

J. Traeger-Synodinos, R. Galanello, M. Angastiniotis, 2012 .

Screening for the FMR1 premutation in Greek patients with late-onset movement disorders.

G. Koutsis, M. Panas, G. Karadima, 2022, Parkinsonism & related disorders.

An Update on Non-invasive Approaches for Genetic Testing of the Preimplantation Embryo

J. Traeger-Synodinos, C. Vrettou, G. Kakourou, 2022, Current genomics.

Variable and Often Severe Phenotypic Expression in Patients with the α-Thalassemic Variant Hb Agrinio [α29(B10)Leu→Pro (α2)]

I. Papassotiriou, E. Kanavakis, J. Traeger-Synodinos, 2010, Hemoglobin.

Further Identification of The Hyperunstable α-Globin Chain Variant Hb Heraklion [codons 36/37 (–CCC); Pro→0 (α1)] in Greek Cases With Co-Inherited α+-Thalassemia Mutations

I. Papassotiriou, E. Kanavakis, J. Traeger-Synodinos, 2008, Hemoglobin.

The interaction of α° thalassaemia with Hb Icaria: three unusual cases of haemoglobinopathy H

E. Kanavakis, J. Traeger-Synodinos, C. Vrettou, 1996 .

Rare thalassemic syndrome caused by interaction of Hb Questembert (α1 codon 131, TCT>CCT, Ser>Pro) with an α-thalassemia-2 deletion: implications for diagnosis and management

I. Papassotiriou, E. Kanavakis, J. Traeger-Synodinos, 2004 .

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

J. Traeger-Synodinos, S. Henderson, R. Galanello, 2015, European Journal of Human Genetics.

Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms’ tumor 1 (WT1) gene

E. Kanavakis, J. Traeger-Synodinos, C. Stefanidis, 2011, European Journal of Pediatrics.

A base substitution (T-->C) in codon 29 of the alpha 2-globin gene causes alpha thalassaemia.

D. Higgs, E. Kanavakis, S. Thein, 1993, British journal of haematology.

Birth of a healthy infant following trophectoderm biopsy from blastocysts for PGD of beta-thalassaemia major.

A. Trounson, E. Kanavakis, J. Traeger-Synodinos, 2005, Human Reproduction.

Genotyping of single-nucleotide polymorphisms by primer extension reaction in a dry-reagent dipstick format.

T. K. Christopoulos, E. Kanavakis, J. Traeger-Synodinos, 2007, Analytical chemistry.

Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome

J. Traeger-Synodinos, C. Kanaka-Gantenbein, A. Zellos, 2023, Hormones.

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

M. Tzetis, J. Traeger-Synodinos, P. Makrythanasis, 2023, Genes.

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

J. Traeger-Synodinos, C. Vrettou, C. Sofocleous, 2022, Biology.

Adult‐onset beta‐thalassaemia intermedia caused by a 5‐Mb somatic clonal segmental deletion in haemopoietic stem cells involving the β‐globin locus

C. Ruivenkamp, E. Kanavakis, J. Traeger-Synodinos, 2019, British journal of haematology.

Multiplex sequence variation detection throughout the CFTR gene appropriate for preimplantation genetic diagnosis in populations with heterogeneity of cystic fibrosis mutations.

M. Tzetis, E. Kanavakis, J. Traeger-Synodinos, 2002, Molecular human reproduction.

PGD for glycogen storage disease type IV: Birth of healthy twins following successful clinical application of a mutation‐specific protocol

E. Kanavakis, J. Traeger-Synodinos, C. Vrettou, 2010, Prenatal diagnosis.

The experience of 3 years of external quality assessment of preimplantation genetic diagnosis for cystic fibrosis

Z. Deans, C. Moutou, V. Goossens, 2012, European Journal of Human Genetics.

Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation

M. Tzetis, E. Kanavakis, S. Doudounakis, 1995, Human Genetics.

The interaction of alpha zero thalassaemia with Hb Icaria: three unusual cases of haemoglobinopathy H.

E. Kanavakis, J. Traeger-Synodinos, C. Vrettou, 1996, British Journal of Haematology.

Identification of two novel mutations (296 + 1G-C and A46D) in exon 2 of the CFTR gene in Greek cystic fibrosis patients.

M. Tzetis, E. Kanavakis, S. Doudounakis, 1995, Molecular and cellular probes.

Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7

F. Fostira, J. Traeger-Synodinos, K. Kosma, 2023, Molecular Syndromology.

Analysis of low density lipoprotein receptor gene mutations and microsatellite haplotypes in Greek FH heterozygous children: six independent ancestors account for 60% of probands

S. Humphries, I. Day, E. Kanavakis, 1998, Human Genetics.

Erythroid Marrow Activity and Hemoglobin H Levels in Hemoglobin H Disease

I. Papassotiriou, E. Kanavakis, J. Traeger-Synodinos, 1998, Journal of pediatric hematology/oncology.

High-throughput microtiter well-based bioluminometric genotyping of two single-nucleotide polymorphisms in the toll-like receptor-4 gene.

T. K. Christopoulos, E. Kanavakis, J. Traeger-Synodinos, 2008, Analytical biochemistry.

Association of Mild and Severely Unstable α Chain Variants: The First Observation of a Compound Heterozygote with Hb Setif [α94(G1)Asp→Tyr (α2)] and Hb Agrinio [α29(B10)Leu→Pro (α2)] in a Greek Family

I. Papassotiriou, E. Kanavakis, J. Traeger-Synodinos, 2008, Hemoglobin.

ASSOCIATION OF MILD AND SEVERELY UNSTABLE a CHAIN VARIANTS : THE FIRST OBSERVATION OF A COMPOUND

I. Papassotiriou, E. Kanavakis, J. Traeger-Synodinos, 2008 .

First Observation of Hb Taybe [Codons 38/39 (−Acc) Thr→0 (α1)] In Greece: Clinical and Hematological Findings in Patients With Co-Inherited α+-Thalassemia Mutations

I. Papassotiriou, E. Kanavakis, J. Traeger-Synodinos, 2008, Hemoglobin.