Identification and Characterization of an Xq26–q27 Duplication in a Family with Spina Bifida and Panhypopituitarism Suggests the Involvement of Two Distinct Genes

This publication has 26 references indexed in Scilit:

• A deletion encompassing Zic3 in bent tail, a mouse model for X-linked neural tube defects.
  Human Molecular Genetics, 2000
• Fibroblast growth factor homologous factor 2 ( FHF2 ): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient
  Human Genetics, 1999
• Genetic landmarks for defects in mouse neural tube closure
  Teratology, 1997
• A metric map of humans: 23,500 loci in 850 bands
  Proceedings of the National Academy of Sciences, 1996
• Familial X-linked mental retardation and isolated growth hormone deficiency: Clinical and molecular findings
  American Journal of Medical Genetics, 1996
• Direct selection: a method for the isolation of cDNAs encoded by large genomic regions.
  Proceedings of the National Academy of Sciences, 1991
• Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency
  The Journal of Pediatrics, 1991
• Yeast artificial chromosomes containing human Xq24–Xq28 DNA: Library construction and representation of probe sequences
  Genomics, 1990
• A family showing apparent X linked inheritance of both anencephaly and spina bifida.
  Journal of Medical Genetics, 1988
• Neural tube defects as an X-linked condition
  American Journal of Medical Genetics, 1984