(Q36247154)

13 August 2017

1 reference

title

Molecular diagnosis of inherited disorders: lessons from hemoglobinopathies (English)

1 reference

13 August 2017

1

George P Patrinos

1 reference

13 August 2017

Panagoula Kollia

2

1 reference

PubMed ID

16138310

13 August 2017

Manoussos N Papadakis

series ordinal

3

1 reference

13 August 2017

1 November 2005

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13 August 2017

1 reference

13 August 2017

26

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13 August 2017

5

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13 August 2017

399-412

1 reference

Robot printing of reverse dot blot arrays for human mutation detection

13 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

Globins: A Case Study in Molecular Phylogeny

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

Globin Chain Electrophoresis: a New Approach to the Determination of theGγ/Aγ Ratio in Fetal Haemoglobin and to Studies of Globin Synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Detection and genetic analysis of beta-thalassemia mutations by competitive oligopriming

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Beta + thalassemia: aberrant splicing results from a single point mutation in an intron.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Reverse dot blot probes for the screening of beta-thalassemia mutations in Asians and American blacks

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

A reverse dot-blot method for rapid detection of non-deletion alpha thalassaemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

A thalassaemia array for Southeast Asia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Prenatal diagnosis of sickle cell anaemia and thalassaemia by analysis of fetal cells in maternal blood

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Prenatal exclusion of β thalassaemia major by examination of maternal plasma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Reliability of DHPLC in mutational screening of ?-globin (HBB) alleles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Simple fluorescent PCR method for detection of large deletions in the beta-globin gene cluster

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Preimplantation genetic diagnosis for sickle-cell anemia and for beta-thalassemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

The structure and evolution of the human beta-globin gene family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Single cell detection of beta-thalassaemia mutations using silver stained SSCP analysis: an application for preimplantation diagnosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Detection of severe nondeletional alpha-thalassemia mutations using a single-tube multiplex ARMS assay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

The population genetics of the haemoglobinopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Beta-thalassemia microelectronic chip: a fast and accurate method for mutation detection.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Rapid detection of six common Mediterranean and three non-Mediterranean alpha-thalassemia point mutations by reverse dot blot analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Molecular cloning and characterization of the human beta-like globin gene cluster

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

A comprehensive scanning method for rapid detection of beta-globin gene mutations and polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

GALA, a database for genomic sequence alignments and annotations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Rapid identification by denaturing gradient gel electrophoresis of mutations in the gamma-globin gene promoters in non-deletion type HPFH.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Position-independent, high-level expression of the human beta-globin gene in transgenic mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Efficiency and cost effectiveness: PAGE-SSCP versus MDE and Phast gels for the identification of unknown beta thalassaemia mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Access to a syllabus of human hemoglobin variants (1996) via the World Wide Web.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Databases of human hemoglobin variants and other resources at the globin gene server

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Rapid detection of point mutations and polymorphisms of the alpha-globin genes by DGGE and SSCA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

A major positive regulatory region located far upstream of the human alpha-globin gene locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Birth of healthy children after preimplantation diagnosis of beta-thalassemia by whole-genome amplification.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Screening for mutations in human alpha-globin genes by nonradioactive single-strand conformation polymorphism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

HPLC retention time as a diagnostic tool for hemoglobin variants and hemoglobinopathies: a study of 60000 samples in a clinical diagnostic laboratory

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Prenatal diagnosis of alpha-thalassemia. Clinical application of molecular hybridization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Birth of healthy children after preimplantation diagnosis of thalassemias.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Sequence variations of the ?-globin genes: Scanning of high CG content genes with DHPLC and DG-DGGE

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Reversed-phase high-performance liquid chromatography of human haemoglobin chains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Cloning and complete nucleotide sequence of human 5'-alpha-globin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Inactivation of human alpha-globin gene expression by a de novo deletion located upstream of the alpha-globin gene cluster

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Model for antenatal diagnosis of β-thalassaemia and other monogenic disorders by molecular analysis of linked DNA polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Presence of fetal DNA in maternal plasma and serum

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Denaturing gradient gel electrophoresis and direct sequencing of PCR amplified genomic DNA: a rapid and reliable diagnostic approach to beta thalassaemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Antenatal diagnosis of beta-thalassemia by isoelectric focusing in immobilized ph gradients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Rapid electrophoresis and quantitation of haemoglobins on cellulose acetate

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Rapid detection of the major Mediterranean beta-thalassaemia mutations by real-time polymerase chain reaction using fluorophore-labelled hybridization probes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Detection of single base substitutions in total genomic DNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Amplification refractory mutation system for prenatal diagnosis and carrier assessment in cystic fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

First-trimester fetal diagnosis for haemoglobinopathies: report on 200 cases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Rapid detection and prenatal diagnosis of beta-thalassaemia: studies in Indian and Cypriot populations in the UK

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Screening and genetic diagnosis of haemoglobin disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Direct detection of the common Mediterranean beta-thalassemia gene with synthetic DNA probes. An alternative approach for prenatal diagnosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Rapid, accurate genotyping of the common -alpha(4.2) thalassaemia deletion based on the use of denaturing HPLC

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

The beta-globin nuclear compartment in development and erythroid differentiation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

HbF-Lesvos: an HbF variant due to a novel G gamma mutation (:G gamma 75 ATA-->ACA) detected in a Greek family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Scanning method to identify the molecular heterogeneity of delta-globin gene especially in delta-thalassemias: detection of three novel substitutions in the promoter region of the gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Contribution of gene conversion in the evolution of the human beta-like globin gene family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

A novel DNA polymorphism of the human A gamma-globin gene (A gamma-588, A-->G) is linked with the XMN / polymorphism (G gamma-158, C-->T)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Agamma-haplotypes: a new group of genetic markers for thalassemic mutations inside the 5' regulatory region of the human Agamma-globin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Multiple interactions between regulatory regions are required to stabilize an active chromatin hub.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Hellenic National Mutation database: a prototype database for mutations leading to inherited disorders in the Hellenic population.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

DNA, diseases and databases: disastrously deficient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Sickle cell anemia, a molecular disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Alpha thalassaemia hydrops fetalis in the UK: the importance of screening pregnant women of Chinese, other South East Asian and Mediterranean extraction for alpha thalassaemia trait

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Prenatal screening for haemoglobin disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Preimplantation genetic diagnostic protocols for alpha- and beta-thalassaemias using multiplex fluorescent PCR

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Human globin chain separation by isolectric focusing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

High-performance liquid chromatography in the diagnosis of hemoglobinopathies and thalassemias. Report of three cases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Pyrosequencing sheds light on DNA sequencing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Diagnosis of Sickle Cell Anemia and β-Thalassemia with Enzymatically Amplified DNA and Nonradioactive Allele-Specific Oligonucleotide Probes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Diagnostic mid trimester amniocentesis: how safe?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

The clinical features of sickle cell disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Rapid detection of beta-globin gene mutations and polymorphisms by temporal temperature gradient gel electrophoresis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Mutation detection by solid phase primer extension

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Real-time quantitative PCR analysis for α-thalassemia-1 of Southeast Asian type deletion in Taiwan

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Rapid and practical detection of beta-globin mutations causing beta-thalassemia by fluorescence-based PCR-single-stranded conformation polymorphism analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

The amplification refractory mutation system (ARMS): a rapid and direct prenatal diagnostic technique for beta-thalassaemia in Singapore

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Guidelines for investigation of the alpha and beta thalassaemia traits. The Thalassaemia Working Party of the BCSH General Haematology Task Force

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Characterization of nondeletion alpha-thalassemia mutations in the Greek population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Evaluation of the BeTha gene 1 kit for the qualitative detection of the eight most common Mediterranean beta-thalassemia mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

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.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Prenatal diagnosis of beta-thalassaemia by reverse dot-blot hybridization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

The laboratory diagnosis of haemoglobinopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Molecular assessment of erythroid lineage chimerism following nonmyeloablative allogeneic stem cell transplantation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Rapid, accurate genotyping of beta-thalassaemia mutations using a novel multiplex primer extension/denaturing high-performance liquid chromatography assay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Denaturing high-performance liquid chromatography: A review

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

First unaffected pregnancy using preimplantation genetic diagnosis for sickle cell anemia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

An efficient procedure for genotyping single nucleotide polymorphisms.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20225

7 January 2021

Identifiers

DOI

10.1002/HUMU.20225

1 reference

13 August 2017

1 reference

PubMed ID

16138310