Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation

This publication has 34 references indexed in Scilit:

• Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay
  Human Mutation, 2005
• Use of targeted array‐based CGH for the clinical diagnosis of chromosomal imbalance: Is less more?
  American Journal of Medical Genetics Part A, 2005
• Detection of large-scale variation in the human genome
  Nature Genetics, 2004
• Genomic imbalances in mental retardation
  Journal of Medical Genetics, 2004
• Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
  Journal of Medical Genetics, 2004
• Genetic and clinical characterization of patients with an interstitial duplication 15q11‐q13, emphasizing behavioral phenotype and response to treatment
  American Journal of Medical Genetics Part A, 2003
• Rapid detection of novelBRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments
  Human Mutation, 2002
• Estimate of prevalence of proximal 15q duplication syndrome
  American Journal of Medical Genetics, 2002
• Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
  Nature Genetics, 1997
• A population‐based study on the causes of mild and severe mental retardation
  Acta Paediatrica, 1995