Issue Date | Title | Author(s) | Relation | scopus | WOS | Fulltext/Archive link |
1997 | A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa | Shen, J.; Bao, Y.; Chen, Y. T. | Hum Mutat 9, 37-40 | | | |
1997 | A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients | Parvari, R.; Moses, S.; Shen, J.; Hershkovitz, E.; Lerner, A.; Chen, Y. T. | Eur J Hum Genet 5, 266-270 | | | |
2000 | Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease | Shaiu, W. L.; Kishnani, P. S.; Shen, J.; Liu, H. M.; Chen, Y. T. | Mol Genet Metab 69, 16-23 | | | |
1996 | Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle | Shen, J.; Bao, Y.; Liu, H. M.; Lee, P.; Leonard, J. V.; Chen, Y. T. | J Clin Invest 98, 352-357 | | | |
1999 | Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa | Hadjigeorgiou, G. M.; Comi, G. P.; Bordoni, A.; Shen, J.; Chen, Y. T.; Salani, S.; Toscano, A.; Fortunato, F.; Lucchiari, S.; Bresolin, N.; Rodolico, C.; Piscaglia, M. G.; Franceschina, L.; Papadimitriou, A.; Scarlato, G. | J Inherit Metab Dis 22, 762-763 | | | |
1997 | Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III | Shen, J.; Liu, H. M.; Bao, Y.; Chen, Y. T. | J Med Genet 34, 34-38 | | | |
2007 | Predicting hepatocellular carcinoma by detection of aberrant promoter methylation in serum DNA 13 | Zhang, Y. J.; Wu, H. C.; Shen, J.; Ahsan, H.; Tsai, W. Y.; Yang, H. I.; Wang, L. Y.; Chen, S. Y.; Chen, C. J.; Santella, R. M. | Clin Cancer Res 8, 2378-2384 | | | |
1998 | Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markers | Shen, J.; Liu, H. M.; McConkie-Rosell, A.; Chen, Y. T. | Prenat Diagn 18, 61-64 | | | |
1999 | Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis | Shen, J.; Liu, H. M.; McConkie-Rosell, A.; Chen, Y. T. | Prenat Diagn 19, 837-839 | | | |
1998 | Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient | Parvari, R.; Shen, J.; Hershkovitz, E.; Chen, Y. T.; Moses, S. W. | J Inherit Metab Dis 21, 141-148 | | | |