Identification of a 3.0-kb Major Recombination Hotspot in Patients with Sotos Syndrome Who Carry a Common 1.9-Mb Microdeletion

This publication has 46 references indexed in Scilit:

• Genotype-Phenotype Correlation in Patients Suspected of Having Sotos Syndrome
  Hormone Research in Paediatrics, 2004
• Uncommon Deletions of the Smith-Magenis Syndrome Region Can Be Recurrent When Alternate Low-Copy Repeats Act as Homologous Recombination Substrates
  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
• Intense and highly localized gene conversion activity in human meiotic crossover hot spots
  Nature Genetics, 2004
• Genetics of Sotos syndrome
  Current Opinion in Pediatrics, 2003
• Identification of eight novel NSD1 mutations in Sotos syndrome
  Journal of Medical Genetics, 2003
• Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes
  European Journal of Human Genetics, 2003
• Spectrum of NSD1 mutations in Sotos and Weaver syndromes
  Journal of Medical Genetics, 2003
• Segmental duplications and the evolution of the primate genome
  Nature Reviews Genetics, 2002
• Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot
  Human Molecular Genetics, 1996