Ray PN - Search Results

1

Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation.

Lines MA, Rupar CA, Rip JW, Baskin B, Ray PN, Hegele RA, Grynspan D, Michaud J, Geraghty MT. Lines MA, et al. Among authors: ray pn. JIMD Rep. 2014;12:79-84. doi: 10.1007/8904_2013_247. Epub 2013 Jul 31. JIMD Rep. 2014. PMID: 23900835 Free PMC article.

2

Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.

Baskin B, Geraghty M, Ray PN. Baskin B, et al. Among authors: ray pn. Am J Med Genet A. 2010 Jul;152A(7):1808-11. doi: 10.1002/ajmg.a.33462. Am J Med Genet A. 2010. PMID: 20583174

3

Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation.

Al-Zaidy SA, Baskin B, Hawkins C, Yoon G, Ray PN, Vajsar J. Al-Zaidy SA, et al. Among authors: ray pn. Muscle Nerve. 2012 May;45(5):752-5. doi: 10.1002/mus.23274. Muscle Nerve. 2012. PMID: 22499106

4

Duchenne muscular dystrophy caused by a complex rearrangement between intron 43 of the DMD gene and chromosome 4.

Baskin B, Gibson WT, Ray PN. Baskin B, et al. Among authors: ray pn. Neuromuscul Disord. 2011 Mar;21(3):178-82. doi: 10.1016/j.nmd.2010.11.008. Epub 2010 Dec 4. Neuromuscul Disord. 2011. PMID: 21134752

5

TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.

Baskin B, Skinner JR, Sanatani S, Terespolsky D, Krahn AD, Ray PN, Scherer SW, Hamilton RM. Baskin B, et al. Among authors: ray pn. Hum Genet. 2013 Nov;132(11):1245-52. doi: 10.1007/s00439-013-1323-2. Epub 2013 Jun 29. Hum Genet. 2013. PMID: 23812740

6

Genetic, cell biological, and clinical interrogation of the CFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention.

Molinski SV, Gonska T, Huan LJ, Baskin B, Janahi IA, Ray PN, Bear CE. Molinski SV, et al. Among authors: ray pn. Genet Med. 2014 Aug;16(8):625-32. doi: 10.1038/gim.2014.4. Epub 2014 Feb 20. Genet Med. 2014. PMID: 24556927 Free article.

7

A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes.

Shlien A, Baskin B, Achatz MI, Stavropoulos DJ, Nichols KE, Hudgins L, Morel CF, Adam MP, Zhukova N, Rotin L, Novokmet A, Druker H, Shago M, Ray PN, Hainaut P, Malkin D. Shlien A, et al. Among authors: ray pn. Am J Hum Genet. 2010 Nov 12;87(5):631-42. doi: 10.1016/j.ajhg.2010.10.007. Am J Hum Genet. 2010. PMID: 21056402 Free PMC article.

8

Complex genomic rearrangement in SPG11 due to a DNA replication-based mechanism.

Baskin B, Kalia LV, Banwell BL, Ray PN, Yoon G. Baskin B, et al. Among authors: ray pn. Mov Disord. 2017 Dec;32(12):1792-1794. doi: 10.1002/mds.27188. Epub 2017 Oct 30. Mov Disord. 2017. PMID: 29082553 No abstract available.

9

Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin gene.

Baskin B, Banwell B, Khater RA, Hawkins C, Ray PN. Baskin B, et al. Among authors: ray pn. Neuromuscul Disord. 2009 Mar;19(3):189-92. doi: 10.1016/j.nmd.2008.11.003. Epub 2009 Feb 18. Neuromuscul Disord. 2009. PMID: 19230662

10

Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms.

Baskin B, Stavropoulos DJ, Rebeiro PA, Orr J, Li M, Steele L, Marshall CR, Lemire EG, Boycott KM, Gibson W, Ray PN. Baskin B, et al. Among authors: ray pn. Mol Genet Genomic Med. 2014 Nov;2(6):539-47. doi: 10.1002/mgg3.108. Epub 2014 Sep 15. Mol Genet Genomic Med. 2014. PMID: 25614876 Free PMC article.

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