F Xiang

Summary

Affiliation: Karolinska Institutet
Country: Sweden

Publications

  1. ncbi A second locus for autosomal dominant myopathy with proximal muscle weakness and early respiratory muscle involvement: a likely chromosomal locus on 2q21
    F Xiang
    Department of Clinical Neuroscience, Karolinska Hospital, Stockholm, Sweden
    Neuromuscul Disord 9:308-12. 1999
  2. ncbi Mutation screening in Rett syndrome patients
    F Xiang
    Department of Clinical Neuroscience, Karolinska Hospital, Stockholm, Sweden
    J Med Genet 37:250-5. 2000
  3. ncbi Closely related Swedish Rett Syndrome females - none with MECP2 mutation revealed
    F Xiang
    Department of Clinical Neuroscience, Karolinska Hospital, Stockholm, Sweden
    Neuropediatrics 32:217-8. 2001
  4. ncbi Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q
    P Nicolao
    Department of Molecular Medicine, Clinical Neurogenetic Unit, CMM L8 02 058, Karolinska Hospital, S 17176, Stockholm, Sweden
    Am J Hum Genet 64:788-92. 1999
  5. ncbi Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease
    L Villard
    INSERM U491, Faculte de Medecine, 27 Bd Jean Moulin, 13385 Marseille Cedex 5, France
    J Med Genet 38:435-42. 2001
  6. ncbi MECP2 mutations in Swedish Rett syndrome clusters
    F Xiang
    Clin Genet 61:384-5. 2002
  7. ncbi Identification of four novel polymorphisms in the calcitonin/alpha-CGRP (CALCA) gene and an investigation of their possible associations with Parkinson disease, schizophrenia, and manic depression
    S Buervenich
    Department of Neuroscience, Karolinska Institute, Berzelius väg 3, 17177 Stockholm, Sweden
    Hum Mutat 17:435-6. 2001
  8. ncbi Huntington disease phenocopy is a familial prion disease
    R C Moore
    Institute for Neurodegenerative Diseases, University of California San Francisco, San Francisco, CA 94143 0518, USA
    Am J Hum Genet 69:1385-8. 2001

Collaborators

Detail Information

Publications8

  1. ncbi A second locus for autosomal dominant myopathy with proximal muscle weakness and early respiratory muscle involvement: a likely chromosomal locus on 2q21
    F Xiang
    Department of Clinical Neuroscience, Karolinska Hospital, Stockholm, Sweden
    Neuromuscul Disord 9:308-12. 1999
    ..This result suggests that the gene responsible for the French form is likely to be located on chromosome 2q21...
  2. ncbi Mutation screening in Rett syndrome patients
    F Xiang
    Department of Clinical Neuroscience, Karolinska Hospital, Stockholm, Sweden
    J Med Genet 37:250-5. 2000
    ..No gross differences were observed in neurones of several brain regions between normal controls and Rett patients...
  3. ncbi Closely related Swedish Rett Syndrome females - none with MECP2 mutation revealed
    F Xiang
    Department of Clinical Neuroscience, Karolinska Hospital, Stockholm, Sweden
    Neuropediatrics 32:217-8. 2001
    ..The series included females with both classical and forme fruste phenotypes. Rett syndrome thus might still be complex and genetically multifactorial...
  4. ncbi Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q
    P Nicolao
    Department of Molecular Medicine, Clinical Neurogenetic Unit, CMM L8 02 058, Karolinska Hospital, S 17176, Stockholm, Sweden
    Am J Hum Genet 64:788-92. 1999
    ..The affected individuals from these two families share an identical haplotype, which suggests a common origin...
  5. ncbi Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease
    L Villard
    INSERM U491, Faculte de Medecine, 27 Bd Jean Moulin, 13385 Marseille Cedex 5, France
    J Med Genet 38:435-42. 2001
    ..5% of Rett syndrome cases are sporadic, although several familial cases have been reported. Mutations in the MECP2 gene were identified in approximately 70-80% of sporadic Rett syndrome cases...
  6. ncbi MECP2 mutations in Swedish Rett syndrome clusters
    F Xiang
    Clin Genet 61:384-5. 2002
  7. ncbi Identification of four novel polymorphisms in the calcitonin/alpha-CGRP (CALCA) gene and an investigation of their possible associations with Parkinson disease, schizophrenia, and manic depression
    S Buervenich
    Department of Neuroscience, Karolinska Institute, Berzelius väg 3, 17177 Stockholm, Sweden
    Hum Mutat 17:435-6. 2001
    ..The 16-bp microdeletion polymorphism was present in a family with multiple cases of unipolar or bipolar depressive disorder. Using this polymorphism as marker, cosegregation with the phenotype was observed in the majority of individuals...
  8. ncbi Huntington disease phenocopy is a familial prion disease
    R C Moore
    Institute for Neurodegenerative Diseases, University of California San Francisco, San Francisco, CA 94143 0518, USA
    Am J Hum Genet 69:1385-8. 2001
    ....