Joy Norris

Joy Norris

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Joy Norris

Joy Norris

Publications by authors named "Joy Norris"

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

Eur J Med Genet 2019 Sep 30:103777. Epub 2019 Sep 30.

APHP, UF de Génétique clinique, Centre de Référence Maladies Rares « Anomalies du développement et syndromes malformatifs », Hôpital Armand Trousseau, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2019.103777DOI Listing
September 2019

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

Int J Mol Sci 2016 Jan 8;17(1). Epub 2016 Jan 8.

Computational Biophysics and Bioinformatics, Clemson University, Clemson, SC 29634, USA.

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http://dx.doi.org/10.3390/ijms17010077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4730321PMC
January 2016

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

Hum Mol Genet 2013 Sep 21;22(18):3789-97. Epub 2013 May 21.

Computational Biophysics and Bioinformatics, Department of Physics, Clemson University, Clemson, SC 29634, USA.

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http://dx.doi.org/10.1093/hmg/ddt229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3749864PMC
September 2013

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

Am J Med Genet A 2013 Sep 29;161A(9):2316-20. Epub 2013 Jul 29.

Clinical Genetics Service, V. Buzzi Children's Hospital, ICP, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36116DOI Listing
September 2013

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

PLoS One 2011 27;6(5):e20373. Epub 2011 May 27.

Computational Biophysics and Bioinformatics, Department of Physics, Clemson University, Clemson, South Carolina, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0020373PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3103547PMC
September 2011

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

Clin Chim Acta 2011 Mar 8;412(7-8):655-60. Epub 2011 Jan 8.

South Carolina Center for the Treatment of Genetic Disorders, Biochemical Genetics Laboratory, Greenwood Genetic Center, Greenwood, SC, United States.

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http://dx.doi.org/10.1016/j.cca.2010.12.037DOI Listing
March 2011