Prenatal diagnosis of Pelizaeus‐Merzbacher disease

This publication has 13 references indexed in Scilit:

• Molecular Diagnostics in Preimplantation Genetic Diagnosis
  The Journal of Molecular Diagnostics, 2002
• Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus–Merzbacher disease
  Prenatal Diagnosis, 2001
• Prenatal diagnosis of Pelizaeus‐Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR
  Prenatal Diagnosis, 2001
• A new polymorphism in the proteolipid protein (PLP1) gene and its use for carrier detection ofPLP1 gene duplication in Pelizaeus-Merzbacher disease
  Human Mutation, 2001
• Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus–Merzbacher disease
  Neurology, 2000
• Additional Copies of the Proteolipid Protein Gene Causing Pelizaeus-Merzbacher Disease Arise by Separate Integration into the X Chromosome
  American Journal of Human Genetics, 2000
• Proteolipoprotein Gene Analysis in 82 Patients with Sporadic Pelizaeus-Merzbacher Disease: Duplications, the Major Cause of the Disease, Originate More Frequently in Male Germ Cells, but Point Mutations Do Not
  American Journal of Human Genetics, 1999
• Pelizaeus-Merzbacher Disease: Identification of Xq22 Proteolipid-Protein Duplications and Characterization of Breakpoints by Interphase FISH
  American Journal of Human Genetics, 1998
• New variant in exon 3 of the proteolipid protein (PLP) gene in a family with pelizaeus‐merzbacher disease
  American Journal of Medical Genetics, 1992
• Prenatal diagnosis in Pelizaeus‐Merzbacher disease using RFLP analysis
  Clinical Genetics, 1990