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- Boot R. G., Hollak C. E., Verhoek M., Sloof P., Poorthuis B. J., Kleijer W. J., Wevers R. A., van Oers M. H., Mannens M. M., Aerts J. M. Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value. Hum Mutat. 1997;10(5):348–358. doi: 10.1002/(SICI)1098-1004(1997)10:5<348::AID-HUMU3>3.0.CO;2-B. [DOI] [PubMed] [Google Scholar]
- Pellegrino J. E., Lensch M. W., Muenke M., Chance P. F. Clinical and molecular analysis in Joubert syndrome. Am J Med Genet. 1997 Oct 3;72(1):59–62. doi: 10.1002/(sici)1096-8628(19971003)72:1<59::aid-ajmg12>3.0.co;2-t. [DOI] [PubMed] [Google Scholar]
- Saraiva J. M., Baraitser M. Joubert syndrome: a review. Am J Med Genet. 1992 Jul 1;43(4):726–731. doi: 10.1002/ajmg.1320430415. [DOI] [PubMed] [Google Scholar]
- Shahinfar M., Wenger D. A. Adult and infantile Gaucher disease in one family: mutational studies and clinical update. J Pediatr. 1994 Dec;125(6 Pt 1):919–921. doi: 10.1016/s0022-3476(05)82010-4. [DOI] [PubMed] [Google Scholar]
- Sidransky E., Sherer D. M., Ginns E. I. Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene. Pediatr Res. 1992 Oct;32(4):494–498. doi: 10.1203/00006450-199210000-00023. [DOI] [PubMed] [Google Scholar]
- Tayebi N., Cushner S. R., Kleijer W., Lau E. K., Damschroder-Williams P. J., Stubblefield B. K., Den Hollander J., Sidransky E. Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene. Am J Med Genet. 1997 Nov 28;73(1):41–47. doi: 10.1002/(sici)1096-8628(19971128)73:1<41::aid-ajmg9>3.0.co;2-s. [DOI] [PubMed] [Google Scholar]