List of works - Jan Traeger-Synodinos

A Novel εγδβ-Thalassemia Deletion Associated with Severe Anemia at Birth and a β-Thalassemia Intermedia Phenotype Later in Life in Three Generations of a Greek Family

scientific article published on 12 December 2019

A generic, flexible protocol for preimplantation human leukocyte antigen typing alone or in combination with a monogenic disease, for rapid case work-up and application.

scientific article published on 16 October 2013

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

scientific article published on 01 January 1997

A minimal set of SNPs for the noninvasive prenatal diagnosis of β-thalassaemia

scientific article published on 31 January 2013

A novel α(0) -thalassemia deletion in a Greek patient with HbH disease and β-thalassemia trait

scientific article published on 11 February 2012

A rare 33 bp in-frame deletion (alpha63-74 or alpha64-74 or alpha65-75) in the alpha1-globin gene causing alpha(+)-thalassemia: a second observation.

scientific article published in May 2004

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.

scientific article published in March 2004

A rare thalassemic syndrome caused by interaction of Hb Adana [alpha59(E8)Gly-->Asp] with an alpha+-thalassemia deletion: clinical aspects in two cases

scientific article published on 01 January 2008

A simplified approach for FSHD molecular testing.

scientific article

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

scientific article published on 01 December 1999

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

scientific article published on 25 July 2013

Absolute quantification of the alleles in somatic point mutations by bioluminometric methods based on competitive polymerase chain reaction in the presence of a locked nucleic acid blocker or an allele-specific primer.

scientific article

An electronic infrastructure for research and treatment of the thalassemias and other hemoglobinopathies: the Euro-mediterranean ITHANET project

scientific article published on January 2009

An overview of current microarray-based human globin gene mutation detection methods

scientific article published on January 2007

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

scientific article published on 01 March 1998

Association of mild and severely unstable alpha chain variants: the first observation of a compound heterozygote with Hb Setif [alpha94(G1)Asp-->Tyr (alpha2)] and Hb Agrinio [alpha29(B10)Leu-->Pro (alpha2)] in a Greek family

scientific article

Association of unstable hemoglobin variants and heterozygous beta-thalassemia: example of a new variant Hb Acharnes or [beta53(D4) Ala --> Thr]

scientific article published on 01 November 1999

Bioluminometric assay for relative quantification of mutant allele burden: application to the oncogenic somatic point mutation JAK2 V617F.

scientific article

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

scientific article published on 5 May 2005

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

scientific article published on 16 April 2011

Cell-free DNA levels in acute myocardial infarction patients during hospitalization

scientific article published on 01 February 2009

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

scientific article published on 4 December 2015

Critical points for an accurate human genome analysis.

scientific article published on 4 May 2017

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

scientific article published on 01 May 2003

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

scientific article

Diagnosis and molecular characterization of a novel α0 -thalassemia deletion (-Kozani) found in a Greek child with unexplained microcytic hypochromic anemia

scientific article

Distinct phenotypic expression associated with a new hyperunstable alpha globin variant (Hb heraklion, alpha1cd37(C2)Pro>0): comparison to other alpha-thalassemic hemoglobinopathies

scientific article published on 01 August 2000

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

scientific article published on 01 April 2015

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

ESHRE PGD consortium best practice guidelines for amplification-based PGD

scientific article published on 21 October 2010

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

scientific article published on 21 October 2010

Eleven years of preimplantation genetic diagnosis for human leukocyte antigen matching: is there room for improvement?

scientific article published on 01 June 2013

Erythroid marrow activity and hemoglobin H levels in hemoglobin H disease

scientific article published on 01 November 1998

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

scientific article

First observation of Hb Taybe [Codons 38/39 (-Acc) Thr-->0 (alpha1)] in Greece: clinical and hematological findings in patients with co-inherited alpha+-thalassemia mutations

scientific article published on 01 January 2008

Further identification of the hyperunstable alpha-globin chain variant Hb Heraklion [codons 36/37 (-CCC); Pro-->0 (alpha1)] in Greek cases with co-inherited alpha+-thalassemia mutations

scientific article published on 01 January 2008

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

scientific article published on January 2007

Genotyping of β-globin gene mutations in single lymphocytes: a preliminary study for preimplantation genetic diagnosis of monogenic disorders.

scientific article published on 23 April 2012

Hb Mont Saint Aignan [beta128(H6)Ala-->Pro]: a new unstable variant leading to chronic microcytic anemia.

scientific article published in February 2001

Hb Sitia [beta128(H6)Ala-->Val]: an unstable variant with a substitution in the alpha1beta1 interface.

scientific article published in February 2001

Hb Souli, a 6 bp in-frame deletion on the HBA2 gene (HBA2: c.[41-46delCCTGGG]) leads to α-thalassemia intermedia, when in trans to a single α-globin gene deletion

scientific article published on 05 December 2014

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

scientific article published on 01 September 1994

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

scientific article

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

scientific article published on 26 January 2007

ITHANET: Information and database community portal for haemoglobinopathies

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

scientific article published on 01 August 1995

Lateral flow dipstick test for genotyping of 15 beta-globin gene (HBB) mutations with naked-eye detection.

scientific article published on 3 April 2012

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

scientific article published on 6 October 2011

Microsatellite markers within the α-globin gene cluster for robust preimplantation genetic diagnosis of severe α-thalassemia syndromes in Mediterranean populations.

scientific article published on 27 March 2012

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

scientific article published on 01 January 1995

Molecular, haematological and clinical studies of a silent beta-gene C-->G mutation at 6 bp 3' to the termination codon (+1480 C-->G) in twelve Greek families

scientific article published on 01 October 1998

Multi-allele DNA biosensor for the rapid genotyping of 'nondeletion' alpha thalassaemia mutations in HBA1 and HBA2 genes by means of multiplex primer extension reaction.

scientific article

Multianalyte, dipstick-type, nanoparticle-based DNA biosensor for visual genotyping of single-nucleotide polymorphisms

scientific article

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

scientific article published on 01 September 1995

Mutations in the chromatin-associated protein ATRX.

scientific article published in June 2008

Noninvasive prenatal diagnosis of beta-thalassaemia using individual fetal erythroblasts isolated from maternal blood after enrichment.

scientific article

Novel and known microsatellite markers within the β-globin cluster to support robust preimplantation genetic diagnosis of β-thalassemia and sickle cell syndromes

scientific article published on 01 January 2011

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

scientific article published in December 2013

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

scientific article published in April 2009

Observation of a rare hemoglobin variant [Hb Lulu island, beta107(G9)Gly-->Asp, GGC-->GAC] co-inherited with a beta+-thalassemia mutation [IVS-I-110 (G-->A)] or in the heterozygous state in a Greek-Albanian family

scientific article published on 01 January 2006

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

scientific article published on 01 February 2010

Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion

scientific article published in May 2010

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

scientific article published on 01 December 2000

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

scientific article published on March 2006

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

scientific article

Pre-implantation genetic diagnosis

scientific article published on 26 October 2016

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

scientific article

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

scientific article published on 01 December 1999

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

scientific article published on 01 November 1994

Prenatal and preimplantation diagnosis of hemoglobinopathies

scientific article published on 01 May 2018

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

scientific article published on 15 November 2012

Quadruple-allele dipstick test for simultaneous visual genotyping of A896G (Asp299Gly) and C1196T (Thr399Ile) polymorphisms in the toll-like receptor-4 gene

article

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.

scientific article

Rare thalassemic syndrome caused by interaction of Hb Questembert (alpha1 codon 131, TCT>CCT, Ser>Pro) with an alpha-thalassemia-2 deletion: implications for diagnosis and management.

scientific article published in January 2004

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

scientific article

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

scientific article published on 01 May 2004

Screening non-deletion α-thalassaemia mutations in the HBA1 and HBA2 genes by high-resolution melting analysis

scientific article published on 2 June 2015

Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping

scientific article published on 18 August 2017

Severe hypertriglyceridaemia in diabetic ketoacidosis: clinical and genetic study

scientific article published on 01 April 2004

Single-cell high resolution melting analysis: A novel, generic, pre-implantation genetic diagnosis (PGD) method applied to cystic fibrosis (HRMA CF-PGD).

scientific article published on 19 October 2015

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

scientific article published on 2 July 2010

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

scientific article

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

scientific article published on 13 October 2009

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

scientific article published on 8 February 2018

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

scientific article

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

scientific article published on 01 May 2005

Two novel variants in the gene identified in cases with craniosynostosis

article

Unstable and thalassemic alpha chain hemoglobin variants: a cause of Hb H disease and thalassemia intermedia

scientific article published on January 2008

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

scientific article published on 01 October 2002

Variable and often severe phenotypic expression in patients with the α-thalassemic variant Hb Agrinio [α29(B10)Leu→Pro (α2)]

scientific article published on 01 January 2010

Visual screening for JAK2V617F mutation by a disposable dipstick.

scientific article published on 29 April 2010

β+-Thalassemia trait due to a novel mutation in the β-globin gene promoter: -26 (A>C) [HBB c.-76A>C]

scientific article published on 01 January 2011

List of works by Jan Traeger-Synodinos

A Novel εγδβ-Thalassemia Deletion Associated with Severe Anemia at Birth and a β-Thalassemia Intermedia Phenotype Later in Life in Three Generations of a Greek Family

A generic, flexible protocol for preimplantation human leukocyte antigen typing alone or in combination with a monogenic disease, for rapid case work-up and application.

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

A minimal set of SNPs for the noninvasive prenatal diagnosis of β-thalassaemia

A novel α(0) -thalassemia deletion in a Greek patient with HbH disease and β-thalassemia trait

A rare 33 bp in-frame deletion (alpha63-74 or alpha64-74 or alpha65-75) in the alpha1-globin gene causing alpha(+)-thalassemia: a second observation.

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.

A rare thalassemic syndrome caused by interaction of Hb Adana [alpha59(E8)Gly-->Asp] with an alpha+-thalassemia deletion: clinical aspects in two cases

A simplified approach for FSHD molecular testing.

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

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

Absolute quantification of the alleles in somatic point mutations by bioluminometric methods based on competitive polymerase chain reaction in the presence of a locked nucleic acid blocker or an allele-specific primer.

An electronic infrastructure for research and treatment of the thalassemias and other hemoglobinopathies: the Euro-mediterranean ITHANET project

An overview of current microarray-based human globin gene mutation detection methods

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

Association of mild and severely unstable alpha chain variants: the first observation of a compound heterozygote with Hb Setif [alpha94(G1)Asp-->Tyr (alpha2)] and Hb Agrinio [alpha29(B10)Leu-->Pro (alpha2)] in a Greek family

Association of unstable hemoglobin variants and heterozygous beta-thalassemia: example of a new variant Hb Acharnes or [beta53(D4) Ala --> Thr]

Bioluminometric assay for relative quantification of mutant allele burden: application to the oncogenic somatic point mutation JAK2 V617F.

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

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

Cell-free DNA levels in acute myocardial infarction patients during hospitalization

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

Critical points for an accurate human genome analysis.

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

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

Diagnosis and molecular characterization of a novel α0 -thalassemia deletion (-Kozani) found in a Greek child with unexplained microcytic hypochromic anemia

Distinct phenotypic expression associated with a new hyperunstable alpha globin variant (Hb heraklion, alpha1cd37(C2)Pro>0): comparison to other alpha-thalassemic hemoglobinopathies

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

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

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

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

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

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

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

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

ESHRE PGD consortium best practice guidelines for amplification-based PGD

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

Eleven years of preimplantation genetic diagnosis for human leukocyte antigen matching: is there room for improvement?

Erythroid marrow activity and hemoglobin H levels in hemoglobin H disease

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

First observation of Hb Taybe [Codons 38/39 (-Acc) Thr-->0 (alpha1)] in Greece: clinical and hematological findings in patients with co-inherited alpha+-thalassemia mutations

Further identification of the hyperunstable alpha-globin chain variant Hb Heraklion [codons 36/37 (-CCC); Pro-->0 (alpha1)] in Greek cases with co-inherited alpha+-thalassemia mutations

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

Genotyping of β-globin gene mutations in single lymphocytes: a preliminary study for preimplantation genetic diagnosis of monogenic disorders.

Hb Mont Saint Aignan [beta128(H6)Ala-->Pro]: a new unstable variant leading to chronic microcytic anemia.

Hb Sitia [beta128(H6)Ala-->Val]: an unstable variant with a substitution in the alpha1beta1 interface.

Hb Souli, a 6 bp in-frame deletion on the HBA2 gene (HBA2: c.[41-46delCCTGGG]) leads to α-thalassemia intermedia, when in trans to a single α-globin gene deletion

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

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

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

ITHANET: Information and database community portal for haemoglobinopathies

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

Lateral flow dipstick test for genotyping of 15 beta-globin gene (HBB) mutations with naked-eye detection.

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

Microsatellite markers within the α-globin gene cluster for robust preimplantation genetic diagnosis of severe α-thalassemia syndromes in Mediterranean populations.

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

Molecular, haematological and clinical studies of a silent beta-gene C-->G mutation at 6 bp 3' to the termination codon (+1480 C-->G) in twelve Greek families

Multi-allele DNA biosensor for the rapid genotyping of 'nondeletion' alpha thalassaemia mutations in HBA1 and HBA2 genes by means of multiplex primer extension reaction.

Multianalyte, dipstick-type, nanoparticle-based DNA biosensor for visual genotyping of single-nucleotide polymorphisms

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

Mutations in the chromatin-associated protein ATRX.

Noninvasive prenatal diagnosis of beta-thalassaemia using individual fetal erythroblasts isolated from maternal blood after enrichment.

Novel and known microsatellite markers within the β-globin cluster to support robust preimplantation genetic diagnosis of β-thalassemia and sickle cell syndromes

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

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

Observation of a rare hemoglobin variant [Hb Lulu island, beta107(G9)Gly-->Asp, GGC-->GAC] co-inherited with a beta+-thalassemia mutation [IVS-I-110 (G-->A)] or in the heterozygous state in a Greek-Albanian family

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

Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion

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

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

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

Pre-implantation genetic diagnosis

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

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

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

Prenatal and preimplantation diagnosis of hemoglobinopathies

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

Quadruple-allele dipstick test for simultaneous visual genotyping of A896G (Asp299Gly) and C1196T (Thr399Ile) polymorphisms in the toll-like receptor-4 gene

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.