Victoria M Siu

Victoria M Siu

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Victoria M Siu

Victoria M Siu

Publications by authors named "Victoria M Siu"

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The Usher Syndrome Type IIIB Histidyl-tRNA Synthetase Mutation Confers Temperature Sensitivity.

Biochemistry 2017 07 7;56(28):3619-3631. Epub 2017 Jul 7.

Department of Biochemistry, University of Vermont , Burlington, Vermont 05405, United States.

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http://dx.doi.org/10.1021/acs.biochem.7b00114DOI Listing
July 2017

Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses.

J Med Genet 2015 Oct 5;52(10):666-75. Epub 2015 Aug 5.

Robarts Research Institute, London, Ontario, Canada Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2015-103279DOI Listing
October 2015

Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.

Epilepsia 2014 Sep 24;55(9):e106-11. Epub 2014 Jul 24.

Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

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http://dx.doi.org/10.1111/epi.12730DOI Listing
September 2014

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

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

Mol Genet Genomic Med 2014 Jan 18;2(1):73-80. Epub 2013 Nov 18.

Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University London, Ontario, N6A 5K8, Canada ; Department of Biochemistry Schulich School of Medicine and Dentistry, Western University London, Ontario, N6A 5C1, Canada.

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http://dx.doi.org/10.1002/mgg3.46DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3907916PMC
January 2014

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

Am J Med Genet A 2012 May 11;158A(5):1229-32. Epub 2012 Apr 11.

Department of Medical Genetics, Alberta Children's Hospital and Alberta Children's Hospital Research Institute for Child and Maternal Health, University of Calgary, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4247856PMC
May 2012

Phenotype of combined Duchenne and facioscapulohumeral muscular dystrophy.

Neuromuscul Disord 2008 Jul 30;18(7):579-82. Epub 2008 Jun 30.

Department of Clinical Neurosciences, Foothills Medical Centre, Heritage Medical Research Building, 182A-3330 Hospital Drive NW, Calgary, Alta., Canada T2N 4N1.

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http://dx.doi.org/10.1016/j.nmd.2008.03.011DOI Listing
July 2008