MOLECULAR GENETICS OF INTESTINAL AGANGLIONOSIS AND DYSGANGLIONOSIS

Pubblicazioni Scientifiche

• 2001 CYTOGENETICS AND CELL GENETICS

  Assignment of the HOX11L2 gene to human chromosome band 5q35.1 and of its murine homolog to mouse chromosome bands 11A4-A5 by in situ hybridization

• 2003 JOURNAL OF MEDICAL GENETICS

  Single nucleotide polymorphic alleles in the 5 ' region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease

• 1999 AMERICAN JOURNAL OF HUMAN GENETICS

  Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease

• 2002 FEBS LETTERS

  Cell-line specific chromatin acetylation at the Sox10-Pax3 enhancer site modulates the RET proto-oncogene expression

• 2000 EUROPEAN JOURNAL OF HUMAN GENETICS

  A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease

• 2000 BIOTECHNIQUES

  Nuclear run-on assay using biotin labeling, magnetic bead capture and analysis by fluorescence-based RT-PCR

• 2000 DNA SEQUENCE

  cDNA sequence and genomic structure of the rat RET proto-oncogene

• 2002 INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE

  HOX11L1: A promoter study to evaluate possible expression defects in intestinal motility disorders

• 2002 AMERICAN JOURNAL OF HUMAN GENETICS

  A rare haplotype of the RET proto-oncogene is a risk-modifying allele in Hirschsprung disease

• 2002 AMERICAN JOURNAL OF MEDICAL GENETICS

  Mutational analysis of the RNX gene in congenital central hypoventilation syndrome

• 2004 JOURNAL OF MEDICAL GENETICS

  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

• 2003 GUT

  Rescue of human RET gene expression by sodium butyrate: a novel powerful tool for molecular studies in Hirschsprung disease

• 1999 CYTOGENETICS AND CELL GENETICS

  HOX11L1, a gene involved in peripheral nervous system development, maps to human chromosome 2p13.1 -> p12 and mouse chromosome 6C3-D1

• 2002 EUROPEAN JOURNAL OF HUMAN GENETICS

  Hirschsprung associated GDNF mutations do not prevent RET activation