List of works - Jan Traeger-Synodinos

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

scientific article

The ESHRE PGD Consortium: 10 years of data collection

scientific article published on February 16, 2012

Mutations in the chromatin-associated protein ATRX.

scientific article published in June 2008

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

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

scientific article published on January 2008

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 XIII: cycles from January to December 2010 with pregnancy follow-up to October 2011.

scientific article

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 VI: cycles from January to December 2003 with pregnancy follow-up to October 2004.

scientific article

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

scientific 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

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

scientific article

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

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

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

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

scientific article published on May 8, 2012

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

scientific article

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

scientific article published on 01 February 2009

Pre-implantation genetic diagnosis

scientific article published on 26 October 2016

Advances in Technologies for Screening and Diagnosis of Hemoglobinopathies

scientific article published on January 1, 2014

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

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

scientific article published in April 2009

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

scientific article published on 01 December 2000

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

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

scientific article

Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping

scientific article published on 18 August 2017

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

scientific article published on January 2007

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

scientific article published on 01 May 2003

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

scientific article published on January 2009

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

scientific article

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

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

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

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

scientific article published on 15 November 2012

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

scientific article published in May 2010

Erythroid marrow activity and hemoglobin H levels in hemoglobin H disease

scientific article published on 01 November 1998

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

scientific article published on January 2007

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

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

scientific article published on 01 November 1994

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

scientific article published on 26 January 2007

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

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

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

scientific article

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

scientific article published in February 2001

Visual screening for JAK2V617F mutation by a disposable dipstick

scientific article published on 29 April 2010

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

scientific article published on 6 October 2011

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

List of works by Jan Traeger-Synodinos

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

The ESHRE PGD Consortium: 10 years of data collection

Mutations in the chromatin-associated protein ATRX.

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

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

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

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

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

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

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

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.

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

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

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

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

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

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

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

Pre-implantation genetic diagnosis

Advances in Technologies for Screening and Diagnosis of Hemoglobinopathies

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

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

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

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

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

Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping

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

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

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

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

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.

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

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

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

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

Erythroid marrow activity and hemoglobin H levels in hemoglobin H disease

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

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

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

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

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

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

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

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

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

Visual screening for JAK2V617F mutation by a disposable dipstick

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

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