A large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis chromosome region in a girl with multiple congenital anomalies

This publication has 13 references indexed in Scilit:

• Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms
  Human Genetics, 2004
• Congenital heart defects associated with Smith–Magenis syndrome: Two cases of total anomalous pulmonary venous return
  American Journal of Medical Genetics Part A, 2004
• Uncommon Deletions of the Smith-Magenis Syndrome Region Can Be Recurrent When Alternate Low-Copy Repeats Act as Homologous Recombination Substrates
  The American Journal of Human Genetics, 2004
• Molecular characterization of inv dup del(8p): Analysis of five cases
  American Journal of Medical Genetics Part A, 2004
• Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3
  The American Journal of Human Genetics, 2003
• Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype
  American Journal of Medical Genetics, 2000
• Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to theLIS1 and the D17S379 loci
  American Journal of Medical Genetics, 1999
• Point Mutations and an Intragenic Deletion in LIS1, the Lissencephaly Causative Gene in Isolated Lissencephaly Sequence and Miller-Dieker Syndrome
  Human Molecular Genetics, 1997
• Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)
  American Journal of Medical Genetics, 1996
• Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats
  Nature, 1993