HOMOZYGOSITY MAPPING OF FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS

Pubblicazioni Scientifiche

• 2001 BRITISH JOURNAL OF HAEMATOLOGY

  Pathogenesis of haemophagocytic lymphohistiocytosis

• 2001 JOURNAL OF MEDICAL GENETICS

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

• 1999 BRITISH JOURNAL OF HAEMATOLOGY

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

• 2004 PEDIATRIC RESEARCH

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

• 2000 NEW ENGLAND JOURNAL OF MEDICINE

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

• 1999 BRITISH JOURNAL OF HAEMATOLOGY

  Familial clustering of Langerhans cell histiocytosis

• 1999 AMERICAN JOURNAL OF MEDICAL GENETICS

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

• 2001 Blood

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

• 2001 HAEMATOLOGICA

  Familial hemophagocytic lymphohistiocytosis: how late can the onset be?

• 2001 MEDICAL AND PEDIATRIC ONCOLOGY

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

• 2000 BRITISH JOURNAL OF HAEMATOLOGY

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