Publications

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2011
R. F. Sun, Zhu, Y. S., Feng, J. L., Tian, Z., Kuang, W. J., Liu, Y., Zhang, H. B., and Li, S. B., Polymorphisms of three new microsatellite sites of the dystrophin gene, vol. 10, pp. 744-751, 2011.
Ambrosio CE, Fadel L, Gaiad TP, Martins DS, et al. (2009). Identification of three distinguishable phenotypes in Golden Retriever muscular dystrophy. Genet. Mol. Res. 8: 389-396. doi:10.4238/vol8-2gmr581 Banks GB and Chamberlain JS (2008). The value of mammalian models for Duchenne muscular dystrophy in developing therapeutic strategies. Curr. Top. Dev. Biol. 84: 431-453. doi:10.1016/S0070-2153(08)00609-1 Basak J, Dasgupta UB, Banerjee TK, Senapati AK, et al. (2006). Analysis of dystrophin gene deletions by multiplex PCR in eastern India. Neurol. India 54: 310-311. doi:10.4103/0028-3886.27164 Davies KE (1997). Challenges in Duchenne muscular dystrophy. Neuromuscul. Disord. 7: 482-486. doi:10.1016/S0960-8966(97)00107-7 Den Dunnen JT, Grootscholten PM, Bakker E, Blonden LA, et al. (1989). Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am. J. Hum. Genet. 45: 835-847. Dubowitz V (2006). Enigmatic conflict of clinical and molecular diagnosis in Duchenne/Becker muscular dystrophy. Neuromuscul. Disord. 16: 865-866. doi:10.1016/j.nmd.2006.09.003 Gao Y and Li SB (2008). Effects of sample size on the observed number of allele of 9 STR loci with various genetic data. Yi Chuan 30: 313-320. doi:10.3724/SP.J.1005.2008.00313 Giliberto F, Ferreiro V, Dalamon V, Surace E, et al. (2003). Direct deletion analysis in two Duchenne muscular dystrophy symptomatic females using polymorphic dinucleotide (CA)n loci within the dystrophin gene. J. Biochem. Mol. Biol. 36: 179-184. doi:10.5483/BMBRep.2003.36.2.179 Kimmel M and Chakraborty R (1996). Measures of variation at DNA repeat loci under a general stepwise mutation model. Theor. Popul. Biol. 50: 345-367. doi:10.1006/tpbi.1996.0035 Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, et al. (1987). Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50: 509-517. doi:10.1016/0092-8674(87)90504-6 Lai KK, Lo IF, Tong TM, Cheng LY, et al. (2006). Detecting exon deletions and duplications of the DMD gene using multiplex ligation-dependent probe amplification (MLPA). Clin. Biochem. 39: 367-372. doi:10.1016/j.clinbiochem.2005.11.019 Lai PS, Takeshima Y, Adachi K, Van Tran K, et al. (2002). Comparative study on deletions of the dystrophin gene in three Asian populations. J. Hum. Genet. 47: 552-555. doi:10.1007/s100380200084 Li Q and Wan JM (2005). SSRHunter: development of a local searching software for SSR sites. Yi Chuan 27: 808-810. Melis MA, Cau M, Muntoni F, Mateddu A, et al. (1998). Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families. Eur. J. Paediatr. Neurol. 2: 255-261. doi:10.1016/S1090-3798(98)80039-1 Mendell JR, Buzin CH, Feng J, Yan J, et al. (2001). Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurology 57: 645-650. Ribeiro Rodrigues EM, Leite FP, Hutz MH, Palha TJ, et al. (2008). A multiplex PCR for 11 X chromosome STR markers and population data from a Brazilian Amazon Region. Forensic Sci. Int. Genet. 2: 154-158. doi:10.1016/j.fsigen.2007.10.179 Roberts RG, Gardner RJ and Bobrow M (1994). Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations. Hum. Mutat. 4: 1-11. doi:10.1002/humu.1380040102 Sewry CA (2010). Muscular dystrophies: an update on pathology and diagnosis. Acta Neuropathol. 120: 343-358. doi:10.1007/s00401-010-0727-5 Sifringer M, Uhlenberg B, Lammel S, Hanke R, et al. (2004). Identification of transcripts from a subtraction library which might be responsible for the mild phenotype in an intrafamilially variable course of Duchenne muscular dystrophy. Hum. Genet. 114: 149-156. doi:10.1007/s00439-003-1041-2 Suminaga R, Takeshima Y, Adachi K, Yagi M, et al. (2002). A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5. J. Hum. Genet. 47: 196-201. doi:10.1007/s100380200023 Walmsley GL, Arechavala-Gomeza V, Fernandez-Fuente M, Burke MM, et al. (2010). A Duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient Cavalier King Charles Spaniels is amenable to exon 51 skipping. PLoS One 5: e8647. doi:10.1371/journal.pone.0008647 Yan J and Hou YP (2004). Exploring Novel STR Loci on Human Chromosome 21 for Forensic and Medical Genetics. Doctoral thesis, Sichuan University, Chengdu.
Y. S. Zhu, Wei, S. G., Sun, R. F., Feng, J. L., Kuang, W. J., Lai, J. H., and Li, S. B., A study on the relationship between TCTA tetranucleotide polymorphism of the HPRT gene and primary hyperuricemia, vol. 10, pp. 3121-3126, 2011.
Fujimori S (1996). PRPP synthetase superactivity. Nihon Rinsho 54: 3309-3314. PMid:8976111 Hong YS, Lee MJ, Kim KH, Lee SH, et al. (2004). The C677 mutation in methylene tetrahydrofolate reductase gene: correlation with uric acid and cardiovascular risk factors in elderly Korean men. J. Korean Med. Sci. 19: 209-213. http://dx.doi.org/10.3346/jkms.2004.19.2.209 PMid:15082892    PMCid:2822300 Li YC, Korol AB, Fahima T and Nevo E (2004). Microsatellites within genes: structure, function, and evolution. Mol. Biol. Evol. 21: 991-1007. http://dx.doi.org/10.1093/molbev/msh073 PMid:14963101 Mygind T, Birkelund S, Birkebaek NH, Ostergaard L, et al. (2002). Determination of PCR efficiency in chelex-100 purified clinical samples and comparison of real-time quantitative PCR and conventional PCR for detection of Chlamydia pneumoniae. BMC Microbiol. 2: 17. http://dx.doi.org/10.1186/1471-2180-2-17 PMid:12106506    PMCid:117782 Nyhan WL (2005). Inherited hyperuricemic disorders. Contrib. Nephrol. 147: 22-34. PMid:15604603 Reginato AM and Olsen BR (2007). Genetics and experimental models of crystal-induced arthritis. Lessons learned from mice and men: is it crystal clear? Curr. Opin. Rheumatol. 19: 134-145. http://dx.doi.org/10.1097/BOR.0b013e328040c00b PMid:17278928 Srivastava T, O’Neill JP, Dasouki M and Simckes AM (2002). Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene. Am. J. Med. Genet. 108: 219-222. http://dx.doi.org/10.1002/ajmg.10217 PMid:11891689 Valdes AM, Slatkin M and Freimer NB (1993). Allele frequencies at microsatellite loci: the stepwise mutation model revisited. Genetics 133: 737-749. PMid:8454213    PMCid:1205356 Yamada Y, Nomura N, Yamada K and Wakamatsu N (2007). Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations. Mol. Genet. Metab. 90: 70-76. http://dx.doi.org/10.1016/j.ymgme.2006.08.013 PMid:17027311 Yamamoto T, Moriwaki Y and Takahashi S (2005). Effect of ethanol on metabolism of purine bases (hypoxanthine, xanthine, and uric acid). Clin. Chim. Acta 356: 35-57. http://dx.doi.org/10.1016/j.cccn.2005.01.024 PMid:15936302