Siu VM - Search Results

1

Amish microcephaly: Long-term survival and biochemical characterization.

Siu VM, Ratko S, Prasad AN, Prasad C, Rupar CA. Siu VM, et al. Am J Med Genet A. 2010 Jul;152A(7):1747-51. doi: 10.1002/ajmg.a.33373. Am J Med Genet A. 2010. PMID: 20583149

2

Molecular cytogenetic characterization of a derivative chromosome 8 with an inverted duplication of 8p21.3-->p23.3 and a rearranged duplication of 8q24.13-->qter.

Fan YS, Siu VM. Fan YS, et al. Among authors: siu vm. Am J Med Genet. 2001 Aug 15;102(3):266-71. doi: 10.1002/ajmg.1460. Am J Med Genet. 2001. PMID: 11484205

3

A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population.

Rupar CA, Matsell D, Surry S, Siu V. Rupar CA, et al. J Med Genet. 2001 Sep;38(9):615-6. doi: 10.1136/jmg.38.9.615. J Med Genet. 2001. PMID: 11565547 Free PMC article. No abstract available.

4

A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.

Lahiry P, Wang J, Robinson JF, Turowec JP, Litchfield DW, Lanktree MB, Gloor GB, Puffenberger EG, Strauss KA, Martens MB, Ramsay DA, Rupar CA, Siu V, Hegele RA. Lahiry P, et al. Am J Hum Genet. 2009 Feb;84(2):134-47. doi: 10.1016/j.ajhg.2008.12.017. Epub 2009 Jan 29. Am J Hum Genet. 2009. PMID: 19185282 Free PMC article.

5

Transcriptional profiling of endocrine cerebro-osteodysplasia using microarray and next-generation sequencing.

Lahiry P, Lee LJ, Frey BJ, Rupar CA, Siu VM, Blencowe BJ, Hegele RA. Lahiry P, et al. Among authors: siu vm. PLoS One. 2011;6(9):e25400. doi: 10.1371/journal.pone.0025400. Epub 2011 Sep 27. PLoS One. 2011. PMID: 21980446 Free PMC article.

6

Amish, mennonite, and hutterite genetic disorder database.

Payne M, Rupar CA, Siu GM, Siu VM. Payne M, et al. Among authors: siu vm, siu gm. Paediatr Child Health. 2011 Mar;16(3):e23-4. doi: 10.1093/pch/16.3.e23. Paediatr Child Health. 2011. PMID: 22379385 Free PMC article. No abstract available.

7

A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America.

Loucks C, Parboosingh JS, Chong JX, Ober C, Siu VM, Hegele RA, Rupar CA, McLeod DR, Pinto A, Chudley AE, Innes AM. Loucks C, et al. Among authors: siu vm. Am J Med Genet A. 2012 May;158A(5):1229-32. doi: 10.1002/ajmg.a.35302. Epub 2012 Apr 11. Am J Med Genet A. 2012. PMID: 22495976 Free PMC article. No abstract available.

8

Neurofibromatosis and velopharyngeal insufficiency: is there an association?

Zhang I, Husein M, Dworschak-Stokan A, Jung J, Matic DB, Siu V, Prasad C, Doyle PC. Zhang I, et al. J Otolaryngol Head Neck Surg. 2012 Feb;41(1):58-64. J Otolaryngol Head Neck Surg. 2012. PMID: 22498270

9

A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder.

Lahiry P, Racacho L, Wang J, Robinson JF, Gloor GB, Rupar CA, Siu VM, Bulman DE, Hegele RA. Lahiry P, et al. Among authors: siu vm. Orphanet J Rare Dis. 2013 Aug 17;8:126. doi: 10.1186/1750-1172-8-126. Orphanet J Rare Dis. 2013. PMID: 23957953 Free PMC article.

10

Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency.

Farhan SM, Wang J, Robinson JF, Lahiry P, Siu VM, Prasad C, Kronick JB, Ramsay DA, Rupar CA, Hegele RA. Farhan SM, et al. Among authors: siu vm. Mol Genet Genomic Med. 2014 Jan;2(1):73-80. doi: 10.1002/mgg3.46. Epub 2013 Nov 18. Mol Genet Genomic Med. 2014. PMID: 24498631 Free PMC article.

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