牛道明醫師介紹
●論文
Niu DM, Huang JY, Li HY, Liu KM, Wang ST, Chen YJ, Udaka T, Izumi K, Kosaki K.Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome.Prenat Diagn. 2006 Sep 7; [Epub ahead of print]
Tsai CP, Lin PY, Lee NC, Niu DM, Lee SM, Hsu WM. Corneal lesion as the initial manifestation of tyrosinemia type II.J Chin Med Assoc. 2006 Jun;69(6):286-8.
Yen JL, Lin SP, Chen MR, Niu DM. Clinical features of Ehlers-Danlos syndrome. J Formos Med Assoc. 2006 Jun;105(6):475-80.
Niu DM, Hwang B, Hwang HW, Wang NH, Wu JY, Lee PC,
Chien JC, Shieh RC, Chen YT.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.
J Med Genet. 2006 May 17; [Epub ahead of print]
Lee NC, Hwang B, Chen CH, Niu DM.
ntrafamilial phenotype variation in Marfan syndrome ascertained by
intragenic linkage analysis.
J Formos Med Assoc. 2005 Dec;104(12):964-7.
Long-term follow-up of Chinese
patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin
synthase deficiency.
Mol Genet Metab. 2006
Feb;87(2):128-34. Epub 2005 Dec 20.
Lee NC, Niu DM, Lin CY, Hsiao KJ, Yang AH, Ng YY.
Alpha-galactosidase activity should be examined in
patients with proteinuria: what have we learned from a family affected with
Fabry disease?
Nephrol Dial Transplant.
2006 Feb;21(2):549-50. Epub 2005 Oct 12. No abstract available.
Lu CK, Chen SJ, Niu DM, Tsai CC, Lee FL, Hsu WM.
Electrophysiological changes in lipaemia retinalis.
Am J Ophthalmol. 2005
Jun;139(6):1142-5.
Chien JC, Chen SJ, Tiu CM, Chen YJ, Hwang B, Niu DM.
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.
Eur J Pediatr. 2005
Jun;164(6):350-4. Epub 2005 Feb 24. Review.
Hwang HW, Chen JJ, Lin YJ, Shieh RC, Lee MT, Hung SI, Wu JY, Chen YT, Niu
DM, Hwang BT. R1193Q of SCN5A, a Brugada and
long QT mutation, is a common polymorphism in Han Chinese.
J Med Genet. 2005
Feb;42(2):e7; author reply e8. No abstract available.
Niu DM, Lin CY, Hwang B, Jap TS, Liao CJ, Wu JY.
Contribution of genetic factors to neonatal transient
hypothyroidism.
Arch Dis Child Fetal
Neonatal Ed. 2005 Jan;90(1):F69-72.
16. NC Lee, LY Cheng, KJ Hsiao, TT Liu,PC Chiu, DM Niu Long-term
follow-up ofChinese patients who received delayed treatment for 6-pyruvoyl-
tetrahydropterin synthase deficiency (
accept by Molecular Genetics and Metabolism, correspond author)
17. Lee NC, Niu DM, Lin CY, Hsiao KJ, Yang AH, Ng YY.{alpha}-Galactosidase
activity should be examined in patients with proteinuria: what have we
learned from a family affected with Fabry
disease? Nephrol Dial Transplant. 2005 Oct 12;
18. Lu CK, Chen SJ, Niu DM, Tsai CC, Lee FL, Hsu WM.,
Electrophysiological changes in lipaemia retinalis. Am J Ophthalmol. 2005,
139(6):1142-5.
19. J.C. Chien, S.J. Chen, C.M. Tiu, Y.J. Chen, B. Hwang, and D.M.
Niu. 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. Eur J Pediatr. 2005, 164(6):350-4. (Full paper; correspond
author)
20. Hwang HW, Chen JJ, Lin YJ, Shieh RC, Lee MT, Hung SI, Wu JY,
Chen YT, Niu DM, Hwang BT. R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese. J Med
Genet. 2005;42 (2):7-8
21. D.M. Niu, B. Hwang, C.M. Tiu, et al. Contributions of bone
maturation measurements to the differential diagnosis between neonatal transient
hypothyroidism and dyshormonogenetic
congenital hypothyroidism. Arch Dis Child Fetal Neonatal Ed. 2005;90(1):F69-72.
22. D.M Niu, C.Y Lin, B. Hwang, et al. Contribution of Genetic Factors in
Neonatal Transient Hypothyroidism. Acta Paediatr. 2004; 93(10):1301-6. 9. Guo YC, Liao KK, Soong BW, Tsai CP, Niu DM, Lee HY, Lin
KP. 2004 .Congenital insensitivity to pain with anhidrosis in Taiwan: a
morphometric and genetic study. Eur Neurol. 51(4):206-14.
23. Kao C.D., Niu D.M., Chen J.T., Shan D.E., Lin Y.Y., Wu Z.A., Liao K.K. 2004
. Subtle Brain Dysfunction in treated 6-pyruvoyl-tetrahydropterin synthase deficiency: relationship to motor tasks and neurophysiological tests. Brain Dev. 26(2):93-8.
24. Niu DM, Hwang B, Chu YK, Liao CJ, Wang PL, Lin CY. 2002. 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. J. Clin. Endocrinol.
Metab. 87(9):4208-4212.
25. Niu DM, Pan CC, Lin CY, Hwang B, Chung MY. Mosaic or chimera? Revisiting an
old hypothesis about the cause of the 46,XX/46,XY hermaphrodite.J Pediatr. 2002 Jun;140(6):732-5.
26. Niu DM. Guo WY. Pan HC. Wong TT. 2002. Rapid enlargement of a residual
craniopharyngioma during short-term growth hormone replacement. Childs Nervous System. 18(3-4):164-5.
27. Lee, H.H., Niu D.M, R. W. Lin, Peter Chan. & C.Y. Lin. 2002. Structural
analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase
deficiency. J. Hum Genet. 47:517-522
28. Lin SY. Niu DM. Tu CP. Lin HL. Li MJ. Cheng YD. 2001. Diagnosis of
congenital hypothyroidism from human anagen scalp hair by infrared
microspectroscopy. Ultrastructural Pathology.
25(5):357-60.
29. Chung WT. Niu DM. Lin CY. 2002 .Clinical aspects of X-linked
hypophosphatemic rickets. Acta Paediatrica Taiwanica. 43(1):26-34.
30. Lin SY. Niu DM. Li MJ. Tu CP. Lin HL. 2000 .Differentiation of hair growth
cycle from scalp hair roots for the diagnosis of glucose-6-phosphate
dehydrogenase deficiency in neonates. Journal of
Inherited Metabolic Disease. 23(7):693-704,
31. Chen CH. Tiu CM. Chou YH. Chen WY. Hwang B. Niu DM. 1999 . Congenital
hypothyroidism with multiple ovarian cysts. European Journal of Pediatrics. 158(10):851-2, (correspond author)
32. Niu DM. Hsiao KJ. Wang NH. Chin LS. Chen CH. 1996. Chinese achondroplasia is
also defined by recurrent G380R mutations of the fibroblast growth factor receptor-3 gene. Human Genetics.
98(1):65-7,