Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome

This publication has 11 references indexed in Scilit:

• Novel heterozygous missense mutation in the platelet glycoprotein Ibβ gene associated with isolated giant platelet disorder
  American Journal of Hematology, 2001
• Bernard-Soulier syndrome associated with 22q11.2 microdeletion
  American Journal of Medical Genetics, 2001
• Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome
  Blood, 2001
• Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice
  Nature, 2001
• Velocardiofacial Syndrome
  JAMA Otolaryngology–Head & Neck Surgery, 2000
• Velocardiofacial Syndrome Patients with a Heterozygous Chromosome 22q11 Deletion Have Giant Platelets
  Pediatric Research, 1998
• The annual incidence of DiGeorge/velocardiofacial syndrome.
  Journal of Medical Genetics, 1998
• Recurrent immune cytopenias in two patients with DiGeorge/velocardiofacial syndrome
  The Journal of Pediatrics, 1997
• Idiopathic thrombocytopenic purpura in two mothers of children with DiGeorge sequence: A new component manifestation of deletion 22q11?
  American Journal of Medical Genetics, 1997
• Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/Velo-cardio-facial chromosomal region in 22q11.2
  Human Molecular Genetics, 1995