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Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approachESHRE 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 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.Noninvasive prenatal diagnosis of beta-thalassaemia using individual fetal erythroblasts isolated from maternal blood after enrichment.ESHRE PGD Consortium data collection IX: cycles from January to December 2006 with pregnancy follow-up to October 2007.ESHRE PGD Consortium data collection X: cycles from January to December 2007 with pregnancy follow-up to October 2008.Detection of acquired hemoglobinopathy in children with hematological malignancies at disease onset: results form a national referral centre.Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study.Real-time PCR for prenatal and preimplantation genetic diagnosis of monogenic diseases.The experience of 3 years of external quality assessment of preimplantation genetic diagnosis for cystic fibrosisGenotyping of single-nucleotide polymorphisms by primer extension reaction in a dry-reagent dipstick format.Photoprotein aequorin as a novel reporter for SNP genotyping by primer extension-application to the variants of mannose-binding lectin gene.Multianalyte, dipstick-type, nanoparticle-based DNA biosensor for visual genotyping of single-nucleotide polymorphisms.Single-cell high resolution melting analysis: A novel, generic, pre-implantation genetic diagnosis (PGD) method applied to cystic fibrosis (HRMA CF-PGD).Critical points for an accurate human genome analysis.Pre-implantation HLA matching: The production of a Saviour Child.MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders.Successful long-term immunologic reconstitution by allogeneic hematopoietic stem cell transplantation cures patients with autosomal dominant hyper-IgE syndrome.Hb Sitia [beta128(H6)Ala-->Val]: an unstable variant with a substitution in the alpha1beta1 interface.Hb Mont Saint Aignan [beta128(H6)Ala-->Pro]: a new unstable variant leading to chronic microcytic anemia.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.Psychomotor development of children born after preimplantation genetic diagnosis and parental stress evaluation.Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype.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.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.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.Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping.Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome.Diagnosis and molecular characterization of a novel α0 -thalassemia deletion (-Kozani) found in a Greek child with unexplained microcytic hypochromic anemia.The clinical utility of PGD with HLA matching: a collaborative multi-centre ESHRE study.Screening non-deletion α-thalassaemia mutations in the HBA1 and HBA2 genes by high-resolution melting analysis.Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion.A novel α(0) -thalassemia deletion in a Greek patient with HbH disease and β-thalassemia trait.The c.504T>C (p.Asn168Asn) polymorphism in the ABCB4 gene as a predisposing factor for intrahepatic cholestasis of pregnancy in Greece.Abnormal DLK1/MEG3 imprinting correlates with decreased HERV-K methylation after assisted reproduction and preimplantation genetic diagnosis.High-throughput microtiter well-based chemiluminometric genotyping of 15 HBB gene mutations in a dry-reagent format.Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms' tumor 1 (WT1) gene.
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Jan Traeger-Synodinos
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P31
P496
0000-0002-1860-5628