Experts and Doctors on fetal diseases in Rennes, Brittany, France

Summary

Locale: Rennes, Brittany, France
Topic: fetal diseases

Top Publications

  1. Dubourg C, Lazaro L, Pasquier L, Bendavid C, Blayau M, Le Duff F, et al. Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations. Hum Mutat. 2004;24:43-51 pubmed
    ..This study confirms the great genetic heterogeneity of the disease, the important phenotypic variability in HPE families, and the difficulty to establish genotype-phenotype correlations. ..
  2. Revest M, Minjolle S, Veyer D, Lagathu G, Michelet C, Colimon R. Detection of HHV-6 in over a thousand samples: new types of infection revealed by an analysis of positive results. J Clin Virol. 2011;51:20-4 pubmed publisher
    ..Clinical manifestations of human herpesvirus-6 (HHV-6) have not been clearly defined, and the role of HHV-6 in human disease remains to be fully elucidated...
  3. Quelin C, Loget P, Rozel C, D Hervé D, Fradin M, Demurger F, et al. Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation. Eur J Med Genet. 2017;60:395-398 pubmed publisher
    ..Gly12Val mutation and severe CS phenotype and points out the importance of a muscle biopsy performed according to the suitable procedure in neuromuscular disorders for any fetal arthrogryposis. ..