HOMOZYGOSITY MAPPING OF FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS

Pubblicazioni Scientifiche

• AMERICAN JOURNAL OF MEDICAL GENETICS

  Hemophagocytic lymphohistiocytosis in a patient with deletion of 22q11.2

• BLOOD

  Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene

• BRITISH JOURNAL OF HAEMATOLOGY

  The breakpoints of a constitutional inversion of chromosome 9 associated with haemophagocytic lymphohistiocytosis are not linked to the disease gene

• BRITISH JOURNAL OF HAEMATOLOGY

  Familial clustering of Langerhans cell histiocytosis

• BRITISH JOURNAL OF HAEMATOLOGY

  Cytogenetic abnormalities in PHA-stimulated lymphocytes from patients with Langerhans cell histiocytosis

• BRITISH JOURNAL OF HAEMATOLOGY

  Pathogenesis of haemophagocytic lymphohistiocytosis

• HAEMATOLOGICA

  Familial hemophagocytic lymphohistiocytosis:: how late can the onset be?

• JOURNAL OF MEDICAL GENETICS

  Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis

• MEDICAL AND PEDIATRIC ONCOLOGY

  Langerhans cell histiocytosis in two generations:: A new family and review of the literature

• NEW ENGLAND JOURNAL OF MEDICINE

  Outcome of treatment in children with philadelphia chromosome-positive acute lymphoblastic leukemia

• PEDIATRIC RESEARCH

  Abnormal cell surface antigen expression in individuals with variant CD45 splicing and histiocytosis