Search filters

List of works by Cornelis L Harteveld

A Single-Tube Multiplex Gap-Polymerase Chain Reaction for the Detection of Eight β-Globin Gene Cluster Deletions Common in Southeast Asia ⬇️

scientific article published on January 1, 2012

A brief review on newborn screening methods for hemoglobinopathies and preliminary results selecting beta thalassemia carriers at birth by quantitative estimation of the HbA fraction

scientific article published on 03 September 2009

A confidential inquiry estimating the number of patients affected with sickle cell disease and thalassemia major confirms the need for a prevention strategy in the Netherlands

scientific article published in January 2004

A new Hb evanston allele [alpha14(A12)Trp --> Arg] found solely, and in the presence of common alpha-thalassemia deletions, in three independent Asian cases

scientific article published in February 2004

A new α0-thalassemia deletion found in a Dutch family (--AW) ⬇️

scientific article published on August 15, 2010

A novel 7.9 kb deletion causing alpha+-thalassaemia in two independent families of Indian origin

scientific article

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

scientific article published on 11 February 2012

Advances in technologies for screening and diagnosis of hemoglobinopathies

scientific article published on January 2014

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

scientific article published on January 2007

Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis

scientific article published on 29 July 2016

Beta thalassemia IVS-I-5(G-->C) heterozygosity masked by the presence of HbJ-Meerut in a Dutch-Indian patient

scientific article published in December 2006

Beta-globin gene cluster haplotypes in Yemeni children with sickle cell disease

scientific article published on 11 March 2010

Broader spectrum of β-thalassemia mutations in Oman: regional distribution and comparison with neighboring countries

scientific article published on 13 February 2015

Calibration by commutable control materials is able to reduce inter-method differences of current high-performance methods for HbA2.

scientific article published on 2 December 2017

Characterization of Hb Calvino (HBB: c.406G > A): a new silent β-globin gene variant found in coexistence with α-thalassemia in a family of African origin

scientific article

Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb Rotterdam): two novel alpha2 gene mutations associated with mild alpha-thalassemia found in the same family after newborn screening

scientific article

Correction: Giordano, P.C.; et al. Genetic Epidemiology and Preventive Healthcare in Multiethnic Societies: The Hemoglobinopathies. Int. J. Environ. Res. Public Health 2014, 11, 6136–6146

article

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

scientific article

Estimating the attitude of immigrants toward primary prevention of the hemoglobinopathies

scientific article

Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangements ⬇️

scientific article published on October 31, 2011

Frequency and spectrum of hemochromatosis mutations in Tunisia

scientific article published on January 2003

Frequency of alpha-globin gene triplications and their interaction with beta-thalassemia mutations

scientific article published in January 2009

Genetic epidemiology and preventive healthcare in multiethnic societies: the hemoglobinopathies

scientific article

Hb Amsterdam [alpha32(B13)Met--Ile (alpha2)]: a new unstable variant associated with an alpha-thalassemia phenotype and a new African polymorphism

scientific article

Hb Bleuland [alpha108(G15)Thr-->Asn, ACC-->AAC (alpha2)]: a new abnormal hemoglobin associated with a mild alpha-thalassemia phenotype.

scientific article

Hb Boskoop [HBA2c.112C>T p.Pro38Ser]: a new α2 chain variant observed in a Morrocan family

scientific article published in January 2011

Hb Buffalo [alpha89(FG1)His-->Gln (alpha1)], observed solely and in the presence of an Hb S [beta6(A3)Glu-->Val] heterozygosity

scientific article published in August 2004

Hb Den Haag [beta45(CD4)Phe-->Tyr]. A new hemoglobin variant observed during early pregnancy diagnostics

scientific article published in January 2010

Hb Geldrop St. Anna [beta94(FG1)Asp --> Tyr]: a new hemoglobin variant observed in a diabetic patient

scientific article published in January 2005

Hb Lansing (HBA2: c.264C > G) and a new β promoter transversion [-52 (G > T)]: an attempt to define the phenotype of two mutations found in the Omani population

scientific article published on 31 March 2015

Hb Melusine and Hb Athens-Georgia: potentially underreported in the Belgian population? Four cases demonstrating the lack of detection using common CE-HPLC methods either for glycated hemoglobin (HbA1C) analysis or Hb variant screening

scientific article published on 30 June 2016

Hb Nile[A1] and Hb Nile[A2]: novel identical [alpha77(EF6)Pro-->Ser] variants found in either the alpha1- or alpha2-globin genes

scientific article published in January 2009

Hb Nouakchott [α114(GH2)Pro→Leu; HBA1: c.344C>T], A Second and Third Case Described in Two Unrelated Dutch Families

scientific article published on 6 February 2018

Hb Oegstgeest [alpha104(G11)Cys-->Ser (alpha1)]. A new hemoglobin variant associated with a mild alpha-thalassemia phenotype

scientific article

Hb Olivet (HBA1: C.40G > A; p.Ala14Thr), a Novel Silent Hemoglobin Variant in Two Families of Distinct Origin

scientific article

Hemoglobin A2-Leuven (α2δ2 143(H21) His>Asp): a novel delta-chain variant potentially interfering in hemoglobin A1c measurement using cation exchange HPLC.

scientific article

Hemoglobin analyses in the Netherlands reveal more than 80 different variants including six novel ones

scientific article published on 7 November 2013

Hereditary persistence of fetal hemoglobin in two patients with KLF1 haploinsufficiency due to 19p13.2-p13.12/13 deletion

scientific article published on 4 October 2016

Homozygosity for a rare beta 0-thalassemia mutation [frameshift codons 25/26 (+T)] causes beta-thalassemia intermedia in an Iranian family

scientific article

Human mitochondrial ATP‐binding cassette transporter ABCB10 is required for efficient red blood cell development ⬇️

scientific article published on November 16, 2011

Markers of endothelial dysfunction differ between subphenotypes in children with sickle cell disease

scientific article published on 12 October 2013

Molecular basis of Hb H disease in southwest Iran.

scientific article published in January 2005

Molecular basis of α-thalassemia

scientific article published on 21 September 2017

Molecular spectrum of alpha-thalassemia in Tunisia: epidemiology and detection at birth

scientific article published on November 2002

Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset β-thalassemia major

scientific article published on 14 September 2012

Mutations in MED12 cause X-linked Ohdo syndrome

scientific article published on 7 February 2013

Non‐invasive prenatal diagnosis of beta‐thalassemia and sickle‐cell disease using pyrophosphorolysis‐activated polymerization and melting curve analysis ⬇️

scientific article published on April 20, 2012

Novel 112 kb (epsilonGgammaAgamma) deltabeta-thalassaemia deletion in a Dutch family.

scientific article

Preconception carrier screening and prenatal diagnosis in thalassemia and hemoglobinopathies: challenges and future perspectives

scientific article

Prenatal diagnosis of hemoglobin disorders: present and future strategies

scientific article published on 14 July 2009

Refinement of the genetic cause of ATR-16.

scientific article published on 28 June 2007

Response to hydroxyurea treatment in Iranian transfusion-dependent beta-thalassemia patients.

scientific article published in October 2004

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

scientific article

Thalassemia in Western Australia: 11 novel deletions characterized by Multiplex Ligation-dependent Probe Amplification

scientific article published on 27 January 2010

The first case of Hb Groene Hart [alpha119(H2)Pro-->Ser, CCT-->TCT (alpha1)] homozygosity confirms that a thalassemia phenotype is associated with this abnormal hemoglobin variant

scientific article published in April 2007

The rare Hb Showa-Yakushiji [beta110(G12)Leu-->Pro, CTG-->CCG] in combination with an alpha gene triplication found in a Dutch patient during her first pregnancy examination

scientific article published in April 2007

Towards a Prevention Program for β-Thalassemia. The Molecular Spectrum in East Java, Indonesia ⬇️

scientific article published on December 21, 2011

Two new alpha1-globin gene point mutations: Hb Nedlands (HBA1:c.86C>T) [alpha28(B9)Ala-->Val] and Hb Queens Park (HBA1:c.98T>A) [alpha32(B13)Met-->Lys].

scientific article published in January 2010

Two new beta-thalassemia deletions compromising prenatal diagnosis in an Italian and a Turkish couple seeking prevention

scientific article published on September 2009

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

scientific article published on January 2008

alpha-thalassaemia masked by beta gene defects and a new polyadenylation site mutation on the alpha2-globin gene

scientific article

beta-Globin mutation detection by tagged single-base extension and hybridization to universal glass and flow-through microarrays

scientific article

Paulina is supported by:

About Paulina

Help