List of works - Jan Traeger-Synodinos

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

Severe hypertriglyceridaemia in diabetic ketoacidosis: clinical and genetic study

scientific article published on 01 April 2004

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

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

scientific article published on 8 February 2018

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

scientific article published on 11 February 2012

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

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

scientific article

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

scientific article published on 4 December 2015

Preimplantation genetic diagnosis, an alternative to conventional prenatal diagnosis of the hemoglobinopathies

scientific article published on 03 April 2013

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

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 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

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

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

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

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

Prenatal and preimplantation diagnosis of hemoglobinopathies

scientific article published on 01 May 2018

Critical points for an accurate human genome analysis.

scientific article published on 4 May 2017

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

article

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

scientific article published on 25 July 2013

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

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

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

scientific article published on 01 October 2002

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

scientific article published on 3 April 2012

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

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

scientific article

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

scientific article

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

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

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

scientific article published in February 2001

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

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

scientific article published on 01 January 1995

Two novel variants in the gene identified in cases with craniosynostosis

article

ITHANET: Information and database community portal for haemoglobinopathies

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

A simplified approach for FSHD molecular testing

scientific article

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

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

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

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

scientific article

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

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

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

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

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

scientific article published on 01 June 2013

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

scientific article

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

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

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

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

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

Severe hypertriglyceridaemia in diabetic ketoacidosis: clinical and genetic study

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

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

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

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

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

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

Preimplantation genetic diagnosis, an alternative to conventional prenatal diagnosis of the hemoglobinopathies

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

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 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.

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.

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

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

Prenatal and preimplantation diagnosis of hemoglobinopathies

Critical points for an accurate human genome analysis.

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

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

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.

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

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

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

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

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

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

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

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

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

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

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

Two novel variants in the gene identified in cases with craniosynostosis

ITHANET: Information and database community portal for haemoglobinopathies

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

A simplified approach for FSHD molecular testing

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

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

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

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

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

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

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

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

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

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

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

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

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

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