Xin B - Search Results

1

Quantification of monosialogangliosides in human plasma through chemical derivatization for signal enhancement in LC-ESI-MS.

Huang Q, Liu D, Xin B, Cechner K, Zhou X, Wang H, Zhou A. Huang Q, et al. Among authors: xin b. Anal Chim Acta. 2016 Jul 27;929:31-38. doi: 10.1016/j.aca.2016.04.043. Epub 2016 Apr 28. Anal Chim Acta. 2016. PMID: 27251946

2

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. 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

3

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. 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

4

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. 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.

5

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. Clin Genet. 2011 Jan;79(1):86-91. doi: 10.1111/j.1399-0004.2010.01440.x. Clin Genet. 2011. PMID: 20486940

6

Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke.

Xin B, Jones S, Puffenberger EG, Hinze C, Bright A, Tan H, Zhou A, Wu G, Vargus-Adams J, Agamanolis D, Wang H. Xin B, et al. Proc Natl Acad Sci U S A. 2011 Mar 29;108(13):5372-7. doi: 10.1073/pnas.1014265108. Epub 2011 Mar 14. Proc Natl Acad Sci U S A. 2011. PMID: 21402907 Free PMC article.

7

Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency.

Wang H, Bright A, Xin B, Bockoven JR, Paller AS. Wang H, et al. Among authors: xin b. 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

8

Identification of Two Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome.

Xin B, Wang H. Xin B, et al. Mol Syndromol. 2013 Jan;3(6):288-90. doi: 10.1159/000345924. Epub 2012 Dec 21. Mol Syndromol. 2013. PMID: 23599700 Free PMC article.

9

A new liquid chromatography/tandem mass spectrometry method for quantification of gangliosides in human plasma.

Huang Q, Zhou X, Liu D, Xin B, Cechner K, Wang H, Zhou A. Huang Q, et al. Among authors: xin b. Anal Biochem. 2014 Jun 15;455:26-34. doi: 10.1016/j.ab.2014.03.014. Epub 2014 Mar 27. Anal Biochem. 2014. PMID: 24680754

10

SAMHD1 Gene Mutations Are Associated with Cerebral Large-Artery Atherosclerosis.

Li W, Xin B, Yan J, Wu Y, Hu B, Liu L, Wang Y, Ahn J, Skowronski J, Zhang Z, Wang Y, Wang H. Li W, et al. Among authors: xin b. Biomed Res Int. 2015;2015:739586. doi: 10.1155/2015/739586. Epub 2015 Oct 4. Biomed Res Int. 2015. PMID: 26504826 Free PMC article.

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