Niu DM - Search Results

1

A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect.

Niu DM, Hwang B, Hwang HW, Wang NH, Wu JY, Lee PC, Chien JC, Shieh RC, Chen YT. Niu DM, et al. J Med Genet. 2006 Oct;43(10):817-21. doi: 10.1136/jmg.2006.042192. Epub 2006 May 17. J Med Genet. 2006. PMID: 16707561 Free PMC article.

2

A pilot study of neonatal screening by electrospray ionization tandem mass spectrometry in Taiwan.

Lin WD, Wu JY, Lai CC, Tsai FJ, Tsai CH, Lin SP, Niu DM. Lin WD, et al. Among authors: niu dm. Acta Paediatr Taiwan. 2001 Jul-Aug;42(4):224-30. Acta Paediatr Taiwan. 2001. PMID: 11550411

3

Mosaic or chimera? Revisiting an old hypothesis about the cause of the 46,XX/46,XY hermaphrodite.

Niu DM, Pan CC, Lin CY, Hwang B, Chung MY. Niu DM, et al. J Pediatr. 2002 Jun;140(6):732-5. doi: 10.1067/mpd.2002.124321. J Pediatr. 2002. PMID: 12072878

4

High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect.

Niu DM, Hwang B, Chu YK, Liao CJ, Wang PL, Lin CY. Niu DM, et al. J Clin Endocrinol Metab. 2002 Sep;87(9):4208-12. doi: 10.1210/jc.2002-020153. J Clin Endocrinol Metab. 2002. PMID: 12213873

5

Is urorectal septum malformation sequence a variant of the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association? Report of a case and a review of the literature.

Chien JC, Chen SJ, Tiu CM, Chen YJ, Hwang B, Niu DM. Chien JC, et al. Among authors: niu dm. Eur J Pediatr. 2005 Jun;164(6):350-4. doi: 10.1007/s00431-005-1630-2. Epub 2005 Feb 24. Eur J Pediatr. 2005. PMID: 15729561 Review.

6

Intrafamilial phenotype variation in Marfan syndrome ascertained by intragenic linkage analysis.

Lee NC, Hwang B, Chen CH, Niu DM. Lee NC, et al. Among authors: niu dm. J Formos Med Assoc. 2005 Dec;104(12):964-7. J Formos Med Assoc. 2005. PMID: 16607458

7

Dysregulation of C/EBPalpha by mutant Huntingtin causes the urea cycle deficiency in Huntington's disease.

Chiang MC, Chen HM, Lee YH, Chang HH, Wu YC, Soong BW, Chen CM, Wu YR, Liu CS, Niu DM, Wu JY, Chen YT, Chern Y. Chiang MC, et al. Among authors: niu dm. Hum Mol Genet. 2007 Mar 1;16(5):483-98. doi: 10.1093/hmg/ddl481. Epub 2007 Jan 9. Hum Mol Genet. 2007. PMID: 17213233

8

High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population.

Lin HY, Chong KW, Hsu JH, Yu HC, Shih CC, Huang CH, Lin SJ, Chen CH, Chiang CC, Ho HJ, Lee PC, Kao CH, Cheng KH, Hsueh C, Niu DM. Lin HY, et al. Among authors: niu dm. Circ Cardiovasc Genet. 2009 Oct;2(5):450-6. doi: 10.1161/CIRCGENETICS.109.862920. Epub 2009 Jul 24. Circ Cardiovasc Genet. 2009. PMID: 20031620

9

Giant congenital melanocytic nevi in neonates: report of two cases.

Chien JC, Niu DM, Wang MS, Liu MT, Lirng JF, Chen SJ, Hwang B. Chien JC, et al. Among authors: niu dm. Pediatr Neonatol. 2010 Feb;51(1):61-4. doi: 10.1016/S1875-9572(10)60012-5. Pediatr Neonatol. 2010. PMID: 20225541 Free article.

10

Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A).

Lin HY, Huang CH, Yu HC, Chong KW, Hsu JH, Lee PC, Cheng KH, Chiang CC, Ho HJ, Lin SP, Chen SJ, Lin PK, Niu DM. Lin HY, et al. Among authors: niu dm. J Inherit Metab Dis. 2010 Oct;33(5):619-24. doi: 10.1007/s10545-010-9166-7. Epub 2010 Sep 7. J Inherit Metab Dis. 2010. PMID: 20821055

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