1 - 25 of
33
results
for author:"Lin S.P."
in Literature Citations
| Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis. Hung C.C., Lin S.Y., Lee C.N., Cheng H.Y., Lin C.Y., Chang C.H., Chiu H.H., Yu C.C., Lin S.P., Cheng W.F. et al. Anal. Biochem. 389:102-106(2009) · Mapped (6) |
| Gene dosage effects of the imprinted delta-like homologue 1 (dlk1/pref1) in development: implications for the evolution of imprinting. da Rocha S.T., Charalambous M., Lin S.P., Gutteridge I., Ito Y., Gray D., Dean W., Ferguson-Smith A.C. PLoS Genet. 5:e1000392-e1000392(2009) · Mapped (14) |
| Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome. Dietrich A., Matejas V., Bitzan M., Hashmi S., Kiraly-Borri C., Lin S.P., Mildenberger E., Hoppe B., Palm L., Shiihara T. et al. Pediatr. Nephrol. 23:1779-1786(2008) · Mapped (3) |
| Non-ketotic hyperglycinemia with a novel GLDC mutation in a Taiwanese child. Chang C.Y., Lin S.P., Lin H.Y., Chuang C.K., Ho C.S., Hsu C.H. Acta Paediatr Taiwan 49:35-37(2008) · Mapped (2) |
| Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients. Lin W.D., Lin S.P., Wang C.H., Hwu W.L., Chuang C.K., Lin S.J., Tsai Y., Chen C.P., Tsai F.J. Clin. Chim. Acta 394:89-93(2008) · Mapped (3) |
| Genetic polymorphisms in the CD40 ligand gene and Kawasaki disease. Huang F.Y., Chang T.Y., Chen M.R., Chiu N.C., Chi H., Lee H.C., Lin S.P., Chen C.K., Chan H.W., Chen W.F. et al. J. Clin. Immunol. 28:405-410(2008) · Mapped (5) |
| Lack of association of the vascular endothelial growth factor gene polymorphisms with Kawasaki disease in Taiwanese children. Huang F.Y., Chang T.Y., Chen M.R., Lee H.C., Chi H., Chiu N.C., Hsu C.H., Lin S.P., Kao H.A., Chen W.F. et al. J. Clin. Immunol. 28:322-328(2008) · Mapped (7) |
| The -590 C/T and 8375 A/G interleukin-4 polymorphisms are not associated with Kawasaki disease in Taiwanese children. Huang F.Y., Chang T.Y., Chen M.R., Lee H.C., Chiu N.C., Chi H., Hsu C.H., Lin S.P., Liu H.F., Chen W.F. et al. Hum. Immunol. 69:52-57(2008) · Mapped (6) |
| DNMT3L connects unmethylated lysine 4 of histone H3 to de novo methylation of DNA. Ooi S.K., Qiu C., Bernstein E., Li K., Jia D., Yang Z., Erdjument-Bromage H., Tempst P., Lin S.-P., Allis C.D. et al. |
| Characterization of a novel p.S305P and a known c.1006+5G>C splice site mutation in human iduronate-2-sulfatase associated with mucopolysaccharidosis type II. Chang J.H., Lee-Chen G.J., Lin S.P., Chuang C.K. Clin. Chim. Acta 384:167-170(2007) · Mapped (7) |
| Netherton syndrome: mutation analysis of two Taiwanese families. Lin S.P., Huang S.Y., Tu M.E., Wu Y.H., Lin C.Y., Lin H.Y., Lee-Chen G.J. Arch. Dermatol. Res. 299:145-150(2007) · Mapped (6) |
| Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome. Hung C.S., Lin J.L., Lee Y.J., Lin S.P., Chao M.C., Lo F.S. J. Formos. Med. Assoc. 106:169-172(2007) · Mapped (6) |
| Genetic variations of HLA-DRB1 and susceptibility to Kawasaki disease in Taiwanese children. Huang F.Y., Chang T.Y., Chen M.R., Hsu C.H., Lee H.C., Lin S.P., Kao H.A., Chiu N.C., Chi H., Liu T.Y. et al. Hum. Immunol. 68:69-74(2007) · Mapped (458) |
| Detection of Hunter syndrome (mucopolysaccharidosis type II) in Taiwanese: biochemical and linkage studies of the iduronate-2-sulfatase gene defects in MPS II patients and carriers. Lin S.P., Chang J.H., Lee-Chen G.J., Lin D.S., Lin H.Y., Chuang C.K. Clin. Chim. Acta 369:29-34(2006) · Mapped (7) |
| Generalized arterial calcification of infancy: different clinical courses in two affected siblings. Cheng K.-S., Chen M.-R., Ruf N., Lin S.-P., Rutsch F. Am. J. Med. Genet. A 136:210-213(2005) · UniProtKB (1) |
| Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II). Chang J.H., Lin S.P., Lin S.C., Tseng K.L., Li C.L., Chuang C.K., Lee-Chen G.J. Hum. Genet. 116:160-166(2005) · Mapped (7) |
| Asymmetric regulation of imprinting on the maternal and paternal chromosomes at the Dlk1-Gtl2 imprinted cluster on mouse chromosome 12. Lin S.-P., Youngson N., Takada S., Seitz H., Reik W., Paulsen M., Cavaille J., Ferguson-Smith A.C. |
| Imprinted microRNA genes transcribed antisense to a reciprocally imprinted retrotransposon-like gene. Seitz H., Youngson N., Lin S.-P., Dalbert S., Paulsen M., Bachellerie J.-P., Ferguson-Smith A.C., Cavaille J. |
| Genome sequence of Streptococcus mutans UA159, a cariogenic dental pathogen. Ajdic D.J., McShan W.M., McLaughlin R.E., Savic G., Chang J., Carson M.B., Primeaux C., Tian R., Kenton S., Jia H.G. et al. Proc. Natl. Acad. Sci. U.S.A. 99:14434-14439(2002) · UniProtKB (1,951) |
| Genomic imprinting contributes to thyroid hormone metabolism in the mouse embryo. Tsai C.E., Lin S.P., Ito M., Takagi N., Takada S., Ferguson-Smith A.C. Curr. Biol. 12:1221-1226(2002) · Mapped (1) |
| Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA). Lee-Chen G.J., Lin S.P., Ko M.H., Chuang C.K., Chen C.P., Lee H.H., Cheng S.C., Shen C.H., Tseng K.L., Li C.L. Clin. Genet. 61:192-197(2002) · UniProtKB (1) |
| Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). Lee-Chen G.J., Lin S.P., Lin S.Z., Chuang C.K., Hsiao K.T., Huang C.F., Lien W.C. J. Med. Genet. 39:E3-E3(2002) · UniProtKB (1) |
| Mucopolysaccharidosis type VI: report of two Taiwanese patients and identification of one novel mutation. Yang C.-F., Wu J.-Y., Lin S.-P., Tsai F.-J. J. Formos. Med. Assoc. 100:820-823(2001) · UniProtKB (1) |
| A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis. Yang C.F., Tsai F.J., Lin S.P., Lee C.C., Wu J.Y. Hum. Mutat. 18:254-254(2001) · Mapped (8) |
| Complete genome sequence of an M1 strain of Streptococcus pyogenes. Ferretti J.J., McShan W.M., Ajdic D.J., Savic D.J., Savic G., Lyon K., Primeaux C., Sezate S., Suvorov A.N., Kenton S. et al. Proc. Natl. Acad. Sci. U.S.A. 98:4658-4663(2001) · UniProtKB (1,693) |
