Lista de obras - Jan Traeger-Synodinos - Dominio Público Uruguay

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

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 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.

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico

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

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 1999

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

artículo científico publicado en 2009

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

artículo científico publicado en 2005

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

Critical points for an accurate human genome analysis.

artículo científico publicado en 2017

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

artículo científico publicado en 2003

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2000

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2005

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

artículo científico publicado en 2006

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

artículo científico publicado en 2008

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

artículo científico publicado en 2010

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

artículo científico publicado el 8 de mayo de 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

Erythroid marrow activity and hemoglobin H levels in hemoglobin H disease

artículo científico publicado en 1998

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

artículo científico publicado en 2013

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

artículo científico

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

artículo científico publicado en 2012

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

artículo científico publicado en 2001

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 1994

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

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 1995

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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.

artículo científico publicado en 2008

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

artículo científico publicado en 2007

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

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

artículo científico publicado el 3 de abril de 2013

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

artículo científico publicado en 1994

Prenatal and preimplantation diagnosis of hemoglobinopathies

artículo científico publicado en 2018

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

artículo científico publicado en 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.

artículo científico publicado en 2003

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.

artículo científico publicado en 2004

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

artículo científico publicado en 2006

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

artículo científico publicado en 2015

Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping

artículo científico publicado en 2017

Severe hypertriglyceridaemia in diabetic ketoacidosis: clinical and genetic study

artículo científico publicado en 2004

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

The ESHRE PGD Consortium: 10 years of data collection ⬇️

artículo científico publicado el 16 de febrero de 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 2018

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 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)]

artículo científico publicado en 2010

Visual screening for JAK2V617F mutation by a disposable dipstick

artículo científico publicado en 2010

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

artículo científico publicado en 2011

Lista de obras de 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 XI: cycles from January to December 2008 with pregnancy follow-up to October 2009 ⬇️

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

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

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