Liesbeth Spruijt

Summary

Affiliation: University Hospital
Country: The Netherlands

Publications

  1. ncbi request reprint A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP)
    Liesbeth Spruijt
    Department of Clinical Genetics, University Hospital Maastricht, PO Box 5800, 6202 AZ Maastricht, The Netherlands
    Am J Med Genet A 139:45-7. 2005
  2. ncbi request reprint Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum
    L Spruijt
    Department of Genetics and Cell Biology, University Maastricht, Maastricht, The Netherlands
    Am J Med Genet A 140:1343-5. 2006
  3. ncbi request reprint VATER--tibia aplasia association: report on two patients
    Liesbeth Spruijt
    Departments of Clinical Genetics, University Hospital Leuven, Leuven, Belgium
    Clin Dysmorphol 11:283-7. 2002
  4. pmc Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy
    Neil Howell
    MitoKor, San Diego, CA 92121, USA
    Am J Hum Genet 72:1460-9. 2003
  5. ncbi request reprint Influence of mutation type on clinical expression of Leber hereditary optic neuropathy
    Liesbeth Spruijt
    Department of Genetics and Cell Biology, Maastricht University, Maastricht, The Netherlands
    Am J Ophthalmol 141:676-82. 2006

Collaborators

  • W Wuyts
  • Neil Howell
  • Corinna Herrnstadt
  • Roelof Jan Oostra
  • Lorne A Clarke
  • Piet A Bolhuis
  • David A Mackey
  • Gwen Preston

Detail Information

Publications5

  1. ncbi request reprint A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP)
    Liesbeth Spruijt
    Department of Clinical Genetics, University Hospital Maastricht, PO Box 5800, 6202 AZ Maastricht, The Netherlands
    Am J Med Genet A 139:45-7. 2005
  2. ncbi request reprint Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum
    L Spruijt
    Department of Genetics and Cell Biology, University Maastricht, Maastricht, The Netherlands
    Am J Med Genet A 140:1343-5. 2006
  3. ncbi request reprint VATER--tibia aplasia association: report on two patients
    Liesbeth Spruijt
    Departments of Clinical Genetics, University Hospital Leuven, Leuven, Belgium
    Clin Dysmorphol 11:283-7. 2002
    ..The congenital defects of the children can be regarded as an uncommon variant of VA(C)TER(L) association. Recently Basel and Goldblatt [(2000) Clin Dysmorphol 9:205-208] reported a similar patient with a VATER-tibia aplasia association...
  4. pmc Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy
    Neil Howell
    MitoKor, San Diego, CA 92121, USA
    Am J Hum Genet 72:1460-9. 2003
    ..Finally, analysis of the mtDNA sequences from those pedigrees that did not carry classic LHON mutations suggested candidate pathogenic mutations at nts 9804, 13051, and 14325...
  5. ncbi request reprint Influence of mutation type on clinical expression of Leber hereditary optic neuropathy
    Liesbeth Spruijt
    Department of Genetics and Cell Biology, Maastricht University, Maastricht, The Netherlands
    Am J Ophthalmol 141:676-82. 2006
    ..The prevalence of LHON in the Dutch population was determined...