Barbara McGillivray

Barbara McGillivray

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Barbara McGillivray

Barbara McGillivray

Publications by authors named "Barbara McGillivray"

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36Publications

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Emo, love and god: making sense of Urban Dictionary, a crowd-sourced online dictionary.

R Soc Open Sci 2018 May 2;5(5):172320. Epub 2018 May 2.

The Alan Turing Institute, London, UK.

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http://dx.doi.org/10.1098/rsos.172320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5990761PMC
May 2018

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.

Hum Mutat 2016 Mar 8;37(3):269-79. Epub 2016 Jan 8.

Department of Cardiac Sciences, Libin Cardiovascular Institute of Alberta, University of Calgary, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1002/humu.22942DOI Listing
March 2016

A Clinical Classification Scheme for Tracheobronchomegaly (Mounier-Kuhn Syndrome).

Lung 2015 Oct 19;193(5):815-22. Epub 2015 Jul 19.

Department of Medical Genetics, University of British Columbia, C234-4500 Oak Street, Vancouver, BC, V6H 3N1, Canada.

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http://dx.doi.org/10.1007/s00408-015-9757-zDOI Listing
October 2015

Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID).

BMC Med Genet 2014 Jul 16;15:82. Epub 2014 Jul 16.

Department of Pathology (Cytogenetics), BC Child and Family Research Institute, University of British Columbia (UBC), 950 West 28th, Room 3060, Vancouver, BC V5Z 4H4, Canada.

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http://dx.doi.org/10.1186/1471-2350-15-82DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4107469PMC
July 2014

A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin.

Clin Kidney J 2014 Jun 4;7(3):306-10. Epub 2014 Apr 4.

Division of Nephrology, Department of Pediatrics , University of British Columbia , Vancouver , Canada.

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http://dx.doi.org/10.1093/ckj/sfu029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4377751PMC
June 2014

Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases.

Genes Chromosomes Cancer 2014 Feb 15;53(2):177-82. Epub 2013 Nov 15.

Division of Human Genetics, Department of Internal Medicine and Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio.

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http://dx.doi.org/10.1002/gcc.22129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4041196PMC
February 2014

Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome.

Am J Med Genet A 2012 Oct 17;158A(10):2606-9. Epub 2012 Aug 17.

Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35568DOI Listing
October 2012

BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1).

Am J Med Genet A 2012 Sep 6;158A(9):2322-7. Epub 2012 Aug 6.

Department of Pathology and Laboratory Medicine, University of British Columbia, Children's & Women's Hospital, Vancouver, BC, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35516DOI Listing
September 2012

Methylation profiling in individuals with Russell-Silver syndrome.

Am J Med Genet A 2010 Feb;152A(2):347-55

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.33204DOI Listing
February 2010

Evaluation of group genetic counseling for hereditary breast and ovarian cancer.

J Genet Couns 2009 Feb 6;18(1):87-100. Epub 2009 Jan 6.

Hereditary Cancer Program, BC Cancer Agency, Mail Box #614, 750 West Broadway, Vancouver, British Columbia, V5Z 1H5, Canada.

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http://link.springer.com/content/pdf/10.1007%2Fs10897-008-91
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http://link.springer.com/10.1007/s10897-008-9189-5
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http://dx.doi.org/10.1007/s10897-008-9189-5DOI Listing
February 2009

Pregnancy with uterine vascular malformations associated with hemorrhagic hereditary telangiectasia: a case report.

J Obstet Gynaecol Can 2006 Aug;28(8):720-723

Department of Radiology and Ultrasound, University of British Columbia, Children's and Women's Hospital of British Columbia, Vancouver BC.

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https://linkinghub.elsevier.com/retrieve/pii/S17012163163222
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http://dx.doi.org/10.1016/S1701-2163(16)32224-1DOI Listing
August 2006

Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy.

Am J Med Genet A 2006 Feb;140(4):322-30

Division of Genetics and Metabolism, Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.

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http://doi.wiley.com/10.1002/ajmg.a.31008
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http://dx.doi.org/10.1002/ajmg.a.31008DOI Listing
February 2006

Deletion of chromosome 21 disturbs human brain morphogenesis.

Genet Med 2006 Jan;8(1):1-7

Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Health System and Department of Human Genetics, University of California at Los Angeles, CA, USA.

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http://dx.doi.org/10.1097/01.gim.0000195892.60506.3fDOI Listing
January 2006

Unusual segregation products in sperm from a pericentric inversion 17 heterozygote.

Hum Genet 2005 Aug 28;117(4):357-65. Epub 2005 May 28.

Department of Genetics, Alberta Children's Hospital, 1820 Richmond Road, SW, Calgary, AB, T2T 5C7, Canada.

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http://dx.doi.org/10.1007/s00439-004-1245-0DOI Listing
August 2005

Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH.

Am J Med Genet A 2004 Sep;129A(3):254-60

Department of Pathology, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.30245DOI Listing
September 2004

The wing 2 region of the FOXC1 forkhead domain is necessary for normal DNA-binding and transactivation functions.

Invest Ophthalmol Vis Sci 2004 Aug;45(8):2531-8

Department of Ophthalmology, University of Alberta, Edmonton, Canada.

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http://dx.doi.org/10.1167/iovs.04-0167DOI Listing
August 2004

Fatal familial insomnia: the first account in a family of Chinese descent.

Arch Neurol 2004 Jan;61(1):122-5

Division of Neurology, Department of Medicine, The University of British Columbia, S192-2211 Wesbrook Mall, Vancouver, BC, Canada V6L 1P8.

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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/arc
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http://dx.doi.org/10.1001/archneur.61.1.122DOI Listing
January 2004