Affiliation: Karolinska Institutet
- CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndromeJ 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...
- De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delayJosephine 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...
- High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical settingJ 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...