The other trinucleotide repeat: polyalanine expansion disorders

This publication has 50 references indexed in Scilit:

• PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome
  Journal of Medical Genetics, 2004
• Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
  Nature Genetics, 2003
• FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation
  American Journal of Human Genetics, 2003
• Dominantly inherited, non-coding microsatellite expansion disorders
  Current Opinion in Genetics & Development, 2002
• Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination
  Human Molecular Genetics, 2001
• The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
  Nature Genetics, 2001
• Fourteen and counting: unraveling trinucleotide repeat diseases
  Human Molecular Genetics, 2000
• Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired
  Nature Genetics, 1998
• Polyalanine Expansion in Synpolydactyly Might Result from Unequal Crossing-Over of HOXD13
  Science, 1997
• Trinucleotide repeats and long homopeptides in genes and proteins associated with nervous system disease and development.
  Proceedings of the National Academy of Sciences, 1996