Norris J - Search Results

1

A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.

Zhang Z, Norris J, Kalscheuer V, Wood T, Wang L, Schwartz C, Alexov E, Van Esch H. Zhang Z, et al. Among authors: norris j. Hum Mol Genet. 2013 Sep 15;22(18):3789-97. doi: 10.1093/hmg/ddt229. Epub 2013 May 21. Hum Mol Genet. 2013. PMID: 23696453 Free PMC article.

2

In silico and in vitro investigations of the mutability of disease-causing missense mutation sites in spermine synthase.

Zhang Z, Norris J, Schwartz C, Alexov E. Zhang Z, et al. Among authors: norris j. PLoS One. 2011;6(5):e20373. doi: 10.1371/journal.pone.0020373. Epub 2011 May 27. PLoS One. 2011. PMID: 21647366 Free PMC article.

3

Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase.

Peng Y, Norris J, Schwartz C, Alexov E. Peng Y, et al. Among authors: norris j. Int J Mol Sci. 2016 Jan 8;17(1):77. doi: 10.3390/ijms17010077. Int J Mol Sci. 2016. PMID: 26761001 Free PMC article.

4

The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome.

Larcher L, Norris JW, Lejeune E, Buratti J, Mignot C, Garel C, Keren B, Schwartz CE, Whalen S. Larcher L, et al. Among authors: norris jw. Eur J Med Genet. 2020 Apr;63(4):103777. doi: 10.1016/j.ejmg.2019.103777. Epub 2019 Sep 30. Eur J Med Genet. 2020. PMID: 31580924

5

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.

Lee YR, Khan K, Armfield-Uhas K, Srikanth S, Thompson NA, Pardo M, Yu L, Norris JW, Peng Y, Gripp KW, Aleck KA, Li C, Spence E, Choi TI, Kwon SJ, Park HM, Yu D, Heo WD, Mooney MR, Baig SM, Wentzensen IM, Telegrafi A, McWalter K, Moreland T, Roadhouse C, Ramsey K, Lyons MJ, Skinner C, Alexov E, Katsanis N, Stevenson RE, Choudhary JS, Adams DJ, Kim CH, Davis EE, Schwartz CE. Lee YR, et al. Among authors: norris jw. Nat Commun. 2020 Jul 23;11(1):3698. doi: 10.1038/s41467-020-17452-6. Nat Commun. 2020. PMID: 32703943 Free PMC article.

6

Diagnostic screening for spermine synthase deficiency by liquid chromatography tandem mass spectrometry.

Sowell J, Norris J, Jones K, Schwartz C, Wood T. Sowell J, et al. Among authors: norris j. Clin Chim Acta. 2011 Mar 18;412(7-8):655-60. doi: 10.1016/j.cca.2010.12.037. Epub 2011 Jan 8. Clin Chim Acta. 2011. PMID: 21219895

7

Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype.

Peron A, Spaccini L, Norris J, Bova SM, Selicorni A, Weber G, Wood T, Schwartz CE, Mastrangelo M. Peron A, et al. Among authors: norris j. Am J Med Genet A. 2013 Sep;161A(9):2316-20. doi: 10.1002/ajmg.a.36116. Epub 2013 Jul 29. Am J Med Genet A. 2013. PMID: 23897707

8

Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.

Albert JS, Bhattacharyya N, Wolfe LA, Bone WP, Maduro V, Accardi J, Adams DR, Schwartz CE, Norris J, Wood T, Gafni RI, Collins MT, Tosi LL, Markello TC, Gahl WA, Boerkoel CF. Albert JS, et al. Among authors: norris j. Orphanet J Rare Dis. 2015 Mar 7;10:27. doi: 10.1186/s13023-015-0235-8. Orphanet J Rare Dis. 2015. PMID: 25888122 Free PMC article.

9

Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects.

Spellicy CJ, Norris J, Bend R, Bupp C, Mester P, Reynolds T, Dean J, Peng Y, Alexov E, Schwartz CE, Stevenson RS, J Friez M. Spellicy CJ, et al. Among authors: norris j, j friez m. Eur J Hum Genet. 2018 Mar;26(3):420-427. doi: 10.1038/s41431-017-0025-y. Epub 2018 Jan 22. Eur J Hum Genet. 2018. PMID: 29358613 Free PMC article.

10

A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition.

Garbern JY, Neumann M, Trojanowski JQ, Lee VM, Feldman G, Norris JW, Friez MJ, Schwartz CE, Stevenson R, Sima AA. Garbern JY, et al. Among authors: norris jw. Brain. 2010 May;133(Pt 5):1391-402. doi: 10.1093/brain/awq071. Epub 2010 Apr 15. Brain. 2010. PMID: 20395263 Free PMC article.

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