Affiliation: University Hospital
Country: The Netherlands
- 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
- Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatumL Spruijt
Department of Genetics and Cell Biology, University Maastricht, Maastricht, The Netherlands
Am J Med Genet A 140:1343-5. 2006
- VATER--tibia aplasia association: report on two patientsLiesbeth 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...
- Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathyNeil 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...
- Influence of mutation type on clinical expression of Leber hereditary optic neuropathyLiesbeth 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...