Valerie Biancalana

Summary

Country: France

Publications

  1. ncbi Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype
    Valerie Biancalana
    Laboratoire de Diagnostic Génétique, Faculté de Médecine et CHRU, Strasbourg, France
    Hum Genet 112:135-42. 2003
  2. ncbi Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation
    Andoni Echaniz-Laguna
    Departement de Neurologie, Hopital Civil de Strasbourg, 1 Place de l Hopital, BP426, 67091 Strasbourg, France
    Neuromuscul Disord 17:955-9. 2007
  3. ncbi Proximal 15q familial euchromatic variant and PWS/AS critical region duplication in the same patient: a cytogenetic pitfall
    Nadege Carelle-Calmels
    Service de Cytogénétique, Fédération de Génétique, Hopitaux Universitaires de Strasbourg, Strasbourg, France
    Eur J Med Genet 51:547-57. 2008
  4. ncbi Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France
    Valerie Biancalana
    Laboratoire de Diagnostic Génétique, Strasbourg, France
    Am J Med Genet A 129:218-24. 2004
  5. ncbi Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromes
    Elisabeth Flori
    Service de Cytogénétique, Fédération de Génétique, Hopitaux Universitaires de Strasbourg, Strasbourg, France
    Eur J Hum Genet 12:181-6. 2004

Collaborators

Detail Information

Publications5

  1. ncbi Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype
    Valerie Biancalana
    Laboratoire de Diagnostic Génétique, Faculté de Médecine et CHRU, Strasbourg, France
    Hum Genet 112:135-42. 2003
    ..The spectrum of mutations is now enlarged from the very severe classic neonatal phenotype to very mild phenotype allowing survival to the age of 67 years...
  2. ncbi Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation
    Andoni Echaniz-Laguna
    Departement de Neurologie, Hopital Civil de Strasbourg, 1 Place de l Hopital, BP426, 67091 Strasbourg, France
    Neuromuscul Disord 17:955-9. 2007
    ..This report extends the clinical knowledge of DNM2-centronuclear myopathy and shows that the role of DNM2 mutations in the central nervous system should be further studied...
  3. ncbi Proximal 15q familial euchromatic variant and PWS/AS critical region duplication in the same patient: a cytogenetic pitfall
    Nadege Carelle-Calmels
    Service de Cytogénétique, Fédération de Génétique, Hopitaux Universitaires de Strasbourg, Strasbourg, France
    Eur J Med Genet 51:547-57. 2008
    ....
  4. ncbi Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France
    Valerie Biancalana
    Laboratoire de Diagnostic Génétique, Strasbourg, France
    Am J Med Genet A 129:218-24. 2004
    ..We also discuss issues concerning premutations discovered in affected individuals and in females with premature ovarian failure (POF)...
  5. ncbi Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromes
    Elisabeth Flori
    Service de Cytogénétique, Fédération de Génétique, Hopitaux Universitaires de Strasbourg, Strasbourg, France
    Eur J Hum Genet 12:181-6. 2004
    ....