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Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders.
We searched for JAK2 exon 12 mutations in patients with JAK2 (V617F)-negative myeloproliferative disorders. Seventeen patients with polycythemia vera (PV), including 15 sporadic cases and 2 familialExpand
Driver somatic mutations identify distinct disease entities within myeloid neoplasms with myelodysplasia.
Our knowledge of the genetic basis of myelodysplastic syndromes (MDS) and myelodysplastic/myeloproliferative neoplasms (MDS/MPN) has considerably improved. To define genotype/phenotype relationshipsExpand
Quantitative Analysis of Fetal DNA in Maternal Plasma in Pathological Conditions Associated with Placental Abnormalities
Abstract: An increased fetal DNA concentration in maternal plasma has been observed in placental pathological conditions associated with hypertension and preeclampsia. To confirm these data, weExpand
Full COLD-PCR protocol for noninvasive prenatal diagnosis of genetic diseases.
To the Editor: After the discovery of fetal DNA in maternal plasma, investigators reported different strategies for the noninvasive prenatal diagnosis of genetic diseases (1). Despite the advancesExpand
Fetal DNA detection in maternal plasma throughout gestation
The presence of fetal DNA in maternal plasma may represent a source of genetic material which can be obtained noninvasively. We wanted to assess whether fetal DNA is detectable in all pregnant women,Expand
Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients
Mutations in the retina-specific ABC transporter (ABCR) gene are responsible for autosomal recessive Stargardt disease (arSTGD). Mutation detection efficiency in ABCR in arSTGD patients rangesExpand
Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of β-thalassemia
This study describes a novel approach to non-invasive pre-natal diagnosis of β-thalassemia based on microchip analysis of fetal DNA extracted from maternal plasma. The presence of fetal DNA inExpand
Interaction of hemoglobin E and several forms of α – thalassemia in Cambodian families
Background and Objectives. This study aimed to describe hematologic and molecular characterization of the interaction of hemoglobin (Hb) E and several forms of α-thalassemia causing complexExpand
Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms
Ferritin consists of two subunit types, H and L, which assemble in different proportions in a 24-mer protein.1 The H-subunit has ferroxidase activity and is mainly found in cell cytoplasm, where itExpand
Evaluation of different approaches for fetal DNA analysis from maternal plasma and nucleated blood cells.
One potential noninvasive approach for antenatal diagnosis is the use of fetal cells in maternal circulation as a source of fetal DNA (1). To date, fetal DNA has been extracted from maternalExpand