J Wincent

Summary

Affiliation: Karolinska Institutet
Country: Sweden

Publications

  1. doi request reprint CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome
    J Wincent
    Department of Molecular Medicine and Surgery, CMM L8 02, Karolinska University Hospital Solna, Stockholm, Sweden
    Clin Genet 74:31-8. 2008
  2. doi request reprint De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delay
    Josephine Wincent
    Department of Molecular Medicine and Surgery and Center for Molecular Medicine, CMM L8 02, Karolinska Institutet, Karolinska University Hospital, 171 76 Stockholm, Sweden
    Eur J Med Genet 53:50-3. 2010
  3. doi request reprint High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting
    J Wincent
    Department of Molecular Medicine and Surgery and Center for Molecular Medicine, CMM L8 02, Karolinska Institutet, Karolinska University Hospital, Solna, S 171 76 Stockholm, Sweden
    Clin Genet 79:147-57. 2011

Detail Information

Publications3

  1. doi request reprint CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome
    J Wincent
    Department of Molecular Medicine and Surgery, CMM L8 02, Karolinska University Hospital Solna, Stockholm, Sweden
    Clin Genet 74:31-8. 2008
    ..Screening for intragenic deletions with MLPA is recommended in cases where mutations are not found by sequencing. In addition, a CDH7 mutation was found in an individual without temporal bone malformation...
  2. doi request reprint De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delay
    Josephine Wincent
    Department of Molecular Medicine and Surgery and Center for Molecular Medicine, CMM L8 02, Karolinska Institutet, Karolinska University Hospital, 171 76 Stockholm, Sweden
    Eur J Med Genet 53:50-3. 2010
    ..2 Mb deletion. The main clinical features included microcephaly, ptosis and moderate developmental delay. The symptoms partially overlap with previously reported patients with a deletion in the same region...
  3. doi request reprint High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting
    J Wincent
    Department of Molecular Medicine and Surgery and Center for Molecular Medicine, CMM L8 02, Karolinska Institutet, Karolinska University Hospital, Solna, S 171 76 Stockholm, Sweden
    Clin Genet 79:147-57. 2011
    ..Based on our experiences, array-CGH is recommended as the first-step analysis in the genetic evaluation of patients with DD and/or MCA...