Wang H - Search Results

1

A nonsense mutation of PEPD in four Amish children with prolidase deficiency.

Wang H, Kurien BT, Lundgren D, Patel NC, Kaufman KM, Miller DL, Porter AC, D'Souza A, Nye L, Tumbush J, Hupertz V, Kerr DS, Kurono S, Matsumoto H, Scofield RH. Wang H, et al. Am J Med Genet A. 2006 Mar 15;140(6):580-5. doi: 10.1002/ajmg.a.31134. Am J Med Genet A. 2006. PMID: 16470701

2

Determination of prolidase activity using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.

Kurien BT, Patel NC, Porter AC, Kurono S, Matsumoto H, Wang H, Scofield RH. Kurien BT, et al. Among authors: wang h. Anal Biochem. 2004 Aug 15;331(2):224-9. doi: 10.1016/j.ab.2004.04.043. Anal Biochem. 2004. PMID: 15265726

3

Prolidase deficiency and the biochemical assays used in its diagnosis.

Kurien BT, Patel NC, Porter AC, D'Souza A, Miller D, Matsumoto H, Wang H, Scofield RH. Kurien BT, et al. Among authors: wang h. Anal Biochem. 2006 Feb 15;349(2):165-75. doi: 10.1016/j.ab.2005.10.018. Epub 2005 Oct 27. Anal Biochem. 2006. PMID: 16298326 Review. No abstract available.

4

Phenylalanine hydroxylase deficiency exhibits mutation heterogeneity in two large old order Amish settlements.

Wang H, Nye L, Puffenberger E, Morton H. Wang H, et al. Am J Med Genet A. 2007 Aug 15;143A(16):1938-40. doi: 10.1002/ajmg.a.31852. Am J Med Genet A. 2007. PMID: 17630668 No abstract available.

5

Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy.

Xin B, Puffenberger E, Tumbush J, Bockoven JR, Wang H. Xin B, et al. Among authors: wang h. Am J Med Genet A. 2007 Nov 15;143A(22):2662-7. doi: 10.1002/ajmg.a.31981. Am J Med Genet A. 2007. PMID: 17937428

6

A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family.

Xin B, Puffenberger E, Nye L, Wiznitzer M, Wang H. Xin B, et al. Among authors: wang h. Clin Genet. 2008 Sep;74(3):274-8. doi: 10.1111/j.1399-0004.2008.01018.x. Epub 2008 May 19. Clin Genet. 2008. PMID: 18492089

7

Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.

Xin B, Puffenberger EG, Turben S, Tan H, Zhou A, Wang H. Xin B, et al. Among authors: wang h. Proc Natl Acad Sci U S A. 2010 Jan 5;107(1):258-63. doi: 10.1073/pnas.0908457107. Epub 2009 Dec 14. Proc Natl Acad Sci U S A. 2010. PMID: 20018682 Free PMC article.

8

Multiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order Amish.

Xin B, Wang H. Xin B, et al. Among authors: wang h. Clin Genet. 2011 Jan;79(1):86-91. doi: 10.1111/j.1399-0004.2010.01440.x. Clin Genet. 2011. PMID: 20486940

9

Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency.

Wang H, Bright A, Xin B, Bockoven JR, Paller AS. Wang H, et al. Am J Med Genet A. 2013 Apr;161A(4):875-9. doi: 10.1002/ajmg.a.35826. Epub 2013 Feb 22. Am J Med Genet A. 2013. PMID: 23436467

10

Prolidase deficiency breaks tolerance to lupus-associated antigens.

Kurien BT, D'Sousa A, Bruner BF, Gross T, James JA, Targoff IN, Maier-Moore JS, Harley IT, Wang H, Scofield RH. Kurien BT, et al. Among authors: wang h. Int J Rheum Dis. 2013 Dec;16(6):674-80. doi: 10.1111/1756-185X.12254. Epub 2013 Dec 14. Int J Rheum Dis. 2013. PMID: 24330273 Free PMC article.

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