• Publications
  • Influence
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
  • 43
  • 4
  • Open Access
Development of muscle pathology in canine X-linked muscular dystrophy. I. Delayed postnatal maturation of affected and normal muscle as revealed by myosin isoform analysis and utrophin expression
Abstract Canine X-linked muscular dystrophy (CXMD) is genetically homologous to Duchenne muscular dystrophy and shares the severe myopathy and lethal clinical development of the human disease. WeExpand
  • 32
  • 4
Increased Expression of β‐Chemokines in Muscle of Patients with Inflammatory Myopathies
Idiopathic inflammatory myopathies (IIM) are muscle diseases of autoimmune pathogenesis characterized by mononuclear cell infiltration within muscle tissue. Since immune cell homing and accumulationExpand
  • 92
  • 3
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
  • 73
  • 3
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
  • 32
  • 3
Droplet digital polymerase chain reaction for DNMT3A and IDH1/2 mutations to improve early detection of acute myeloid leukemia relapse after allogeneic hematopoietic stem cell transplantation
Over the last decades, allogeneic hematopoietic stem cell transplantation (allo-HSCT) has considerably improved the outcome of acute myeloid leukemia (AML). Unfortunately, disease relapse remains aExpand
  • 34
  • 3
Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities
The rapid evolution and widespread use of next generation sequencing (NGS) in clinical laboratories has allowed an incredible progress in the genetic diagnostics of several inherited disorders.Expand
  • 33
  • 2
  • Open Access
New trend in non-invasive prenatal diagnosis.
The presence of fetal DNA in maternal plasma represents a source of genetic material which can be obtained non-invasively. To date, the translation of noninvasive prenatal diagnosis from researchExpand
  • 11
  • 2
Workshop report on the extraction of foetal DNA from maternal plasma
Objective Cell free foetal DNA (cff DNA) extracted from maternal plasma is now recognized as a potential source for prenatal diagnosis but the methodology is currently not well standardized. ToExpand
  • 115
  • 1
No evidence of fetal DNA persistence in maternal plasma after pregnancy
Short- and long-term persistence of fetal DNA in maternal plasma has been investigated. Short-term persistence at very low concentration was detected in 47 out of 105 women within two days afterExpand
  • 58
  • 1