Arrayed primer extension technology simplifies mutation detection in Bardet–Biedl and Alström syndrome

This publication has 12 references indexed in Scilit:

• Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease
  Human Genetics, 2010
• Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy
  Journal of Clinical Investigation, 2009
• Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
  Nature Genetics, 2008
• Spectrum ofALMS1variants and evaluation of genotype-phenotype correlations in Alström syndrome
  Human Mutation, 2007
• New Alström Syndrome Phenotypes Based on the Evaluation of 182 Cases
  Archives of internal medicine (1960), 2005
• Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus
  Human Molecular Genetics, 2003
• Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome
  Nature Genetics, 2002
• Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome
  Nature Genetics, 2002
• Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
  Science, 2001
• New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey
  Journal of Medical Genetics, 1999