Maha Al-Sheikh

Summary

Country: France

Publications

  1. ncbi Disturbance in the HIF-1alpha pathway associated with erythrocytosis: further evidences brought by frameshift and nonsense mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene
    Maha Al-Sheikh
    INSERM, U841, Creteil, F 94000, France
    Blood Cells Mol Dis 40:160-5. 2008
  2. ncbi A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene
    Maha Al-Sheikh
    INSERM, U841, Creteil, France
    Haematologica 93:1072-5. 2008
  3. ncbi Two French Caucasian families with dominant thalassemia-like phenotypes due to hyper unstable hemoglobin variants: Hb Sainte Seve [codon 118 (-T)] and codon 127 [CAG-->TAG (Gln-->stop])
    Claude Prehu
    INSERM U654, Hopital Henri Mondor, Creteil, France
    Hemoglobin 29:229-33. 2005

Collaborators

Detail Information

Publications3

  1. ncbi Disturbance in the HIF-1alpha pathway associated with erythrocytosis: further evidences brought by frameshift and nonsense mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene
    Maha Al-Sheikh
    INSERM, U841, Creteil, F 94000, France
    Blood Cells Mol Dis 40:160-5. 2008
    ..In addition to erythrocytosis, other complications, such as inflammatory arthromyalgia, have been observed in one case...
  2. ncbi A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene
    Maha Al-Sheikh
    INSERM, U841, Creteil, France
    Haematologica 93:1072-5. 2008
    ..6146A>G (p.Asn487Ser)] and another, a silent one (g.5799G>A). All were heterozygotes. In addition, 2 patients were positive for JAK2 (Val617Phe), and 2 reported elsewhere, were mutated in the PHD2 gene [c.606delG (p.Met202IlefsX71)...
  3. ncbi Two French Caucasian families with dominant thalassemia-like phenotypes due to hyper unstable hemoglobin variants: Hb Sainte Seve [codon 118 (-T)] and codon 127 [CAG-->TAG (Gln-->stop])
    Claude Prehu
    INSERM U654, Hopital Henri Mondor, Creteil, France
    Hemoglobin 29:229-33. 2005
    ..These two observations are additional evidences of the important role played by helix H in Hb stability: its partial absence, or a large structural modification, seems to be the major reason for the hyper instability of such molecules...