• Publications
  • Influence
MYH9‐Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype–Phenotype Correlations
TLDR
Findings in genotype–phenotype correlations are essential to patients' clinical management and genetic counseling and are discussed in view of molecular pathogenesis of MYH9‐RD. Expand
MYH9-Related Disease: May-Hegglin Anomaly, Sebastian Syndrome, Fechtner Syndrome, and Epstein Syndrome Are not Distinct Entities but Represent a Variable Expression of a Single Illness
TLDR
The term “MHY9-related disease,” which better interprets the recent knowledge in this field and identifies all patients at risk of developing renal, hearing, or visual defects, is proposed. Expand
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.
Until recently, thrombocytopenia 2 (THC2) was considered an exceedingly rare form of autosomal dominant thrombocytopenia and only 2 families were known. However, we recently identified mutations inExpand
Recent advances in the understanding and management of MYH9‐related inherited thrombocytopenias
TLDR
Results of a small clinical study suggested that a non‐peptide thrombopoietin mimetic might greatly benefit bothThrombocytopenia and bleeding tendency of MYH9‐RD patients. Expand
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.
TLDR
It is shown that ANKRD26, another gene within the THC2 locus, and neither MASTL nor ACBD5, is mutated in eight unrelated families, and six different AN KRD26 mutations are identified, which were clustered in a highly conserved 19 bp sequence located in the 5' untranslated region. Expand
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia
Some familial platelet disorders are associated with predisposition to leukemia, myelodysplastic syndrome (MDS) or dyserythropoietic anemia. We identified a family with autosomal dominantExpand
Position of nonmuscle myosin heavy chain IIA (NMMHC‐IIA) mutations predicts the natural history of MYH9‐related disease
TLDR
Evaluating the clinical course of patients with mutations in the four most frequently affected residues of NMMHC‐IIA concluded that mutations at residue 1933 do not induce kidney damage or cataracts and cause deafness only in the elderly, those in position 702 result in severe thrombocytopenia and produce nephritis and deafness at a juvenile age. Expand
ANKRD26-related thrombocytopenia and myeloid malignancies.
TLDR
A study analyzing this series of patients suggested that ANKRD26 -RT -RT may be responsible for an autosomal-dominant form of thrombocytopenia. Expand
Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis.
TLDR
It is shown that XLTT and dyserythropoietic anemia with thrombocytopenia, even if different clinical entities, are closely related disorders. Expand
Inherited thrombocytopenias: from genes to therapy.
TLDR
Recent contributions to clinical and diagnostic aspects, biology and treatments of familial thrombocytopenias are described and a new nosological entity that groups old distinct forms known as May-Hegglin anomaly, Sebastian, Fetchner, and Epstein syndromes is reported. Expand
...
1
2
3
4
5
...