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

BJOG : an international journal of obstetrics and gynaecology, 2020-05, Vol.127 (6), p.710-718

2020

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Prenatal and preimplantation diagnosis of hemoglobinopathies

International journal of laboratory hematology, 2018-05, Vol.40 (S1), p.74-82

2018

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Nablus mask‐like facial syndrome: Report of an atypical case with 8q21.3–q22.1 deletion

American journal of medical genetics. Part A, 2024-07, p.e63826

2024

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Aneuploidy in oocytes from women of advanced maternal age: analysis of the causal meiotic errors and impact on embryo development

Human reproduction (Oxford), 2023-12, Vol.38 (12), p.2526-2535

2023

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

International journal of laboratory hematology, 2013-12, Vol.35 (6), p.571-579

Traeger-Synodinos, J.

2013

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Diagnosis and molecular characterization of a novel α 0 -thalassemia deletion (-Kozani) found in a Greek child with unexplained microcytic hypochromic anemia

International journal of laboratory hematology, 2017-10, Vol.39 (5), p.e124

2017

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

Journal of cystic fibrosis, 2016-03, Vol.15 (2), p.163-170

2016

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

Prenatal diagnosis, 2007-12, Vol.27 (13), p.1228-1232

2007

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Preimplantation genetic diagnosis in clinical practice

Journal of medical genetics, 2002-01, Vol.39 (1), p.6-11

2002

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

Clinical genetics, 2003-05, Vol.63 (5), p.400-409

2003

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

Journal of cellular and molecular medicine, 2004-04, Vol.8 (2), p.232-240

2004

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Severe hypertriglyceridaemia in diabetic ketoacidosis: clinical and genetic study

Diabetic medicine, 2004-04, Vol.21 (4), p.380-382

2004

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Aneuploidy in Oocytes From Women of Advanced Maternal Age: Analysis of the Causal Meiotic Errors and Impact on Embryo Development

Obstetrical & gynecological survey, 2024-03, Vol.79 (3), p.164-165

2024

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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

British journal of haematology, 1999-12, Vol.107 (4), p.699-706

1999

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

British journal of haematology, 1996-12, Vol.95 (3), p.467-471

1996

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

International journal of laboratory hematology, 2017-10, Vol.39 (5), p.e124-e126

2017

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Diagnosis and molecular characterization of a novel [alpha]0-thalassemia deletion (-Kozani) found in a Greek child with unexplained microcytic hypochromic anemia

International journal of laboratory hematology, 2017-10, Vol.39 (5), p.e124

2017

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

European journal of paediatric neurology, 2007-07, Vol.11 (4), p.235-239

2007

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Two novel variants in theTCF12gene identified in cases with craniosynostosis

Application of clinical genetics, 2019-02, Vol.12, p.19-25

2019

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Genotyping of Single-Nucleotide Polymorphisms by Primer Extension Reaction in a Dry-Reagent Dipstick Format

Analytical chemistry (Washington), 2007-01, Vol.79 (2), p.395-402

2007

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

Biosensors & bioelectronics, 2009-06, Vol.24 (10), p.3135-3139

2009

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Molecular Basis of α-thalassaemia

Thalassemia reports, 2011-12, Vol.1 (12), p.e13

Traeger-Synodinos, J.

2011

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Molecular, haematological and clinical studies of a silent β‐gene C → G mutation at 6 bp 3′ to the termination codon (+1480 C → G) in twelve Greek families

British journal of haematology, 1998-10, Vol.103 (1), p.45-51

1998

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Session 09: ESHRE data reporting on PGD cycles and oocyte donation

Human reproduction (Oxford), 2013-06, Vol.28 (suppl_1), p.i18-i19

2013

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

Prenatal and preimplantation diagnosis of hemoglobinopathies

Nablus mask‐like facial syndrome: Report of an atypical case with 8q21.3–q22.1 deletion

Aneuploidy in oocytes from women of advanced maternal age: analysis of the causal meiotic errors and impact on embryo development

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

P135: THE CLINGEN HEMOGLOBINOPATHY VARIANT CURATION EXPERT PANEL

Diagnosis and molecular characterization of a novel α 0 -thalassemia deletion (-Kozani) found in a Greek child with unexplained microcytic hypochromic anemia

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

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

Preimplantation genetic diagnosis in clinical practice

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

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

Severe hypertriglyceridaemia in diabetic ketoacidosis: clinical and genetic study

Aneuploidy in Oocytes From Women of Advanced Maternal Age: Analysis of the Causal Meiotic Errors and Impact on Embryo Development

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

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

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

Diagnosis and molecular characterization of a novel [alpha]0-thalassemia deletion (-Kozani) found in a Greek child with unexplained microcytic hypochromic anemia

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

Two novel variants in theTCF12gene identified in cases with craniosynostosis

Genotyping of Single-Nucleotide Polymorphisms by Primer Extension Reaction in a Dry-Reagent Dipstick Format

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

Molecular Basis of α-thalassaemia

Molecular, haematological and clinical studies of a silent β‐gene C → G mutation at 6 bp 3′ to the termination codon (+1480 C → G) in twelve Greek families

Session 09: ESHRE data reporting on PGD cycles and oocyte donation

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