Publications by authors named "Margaret L McKinnon"

16Publications

A case of splenomegaly in CBL syndrome.

Eur J Med Genet 2017 Jul 13;60(7):374-379. Epub 2017 Apr 13.

British Columbia Children's Hospital Research Institute, Vancouver, Canada; Centre for Molecular Medicine & Therapeutics, University of British Columbia, Vancouver, Canada; Treatable Intellectual Disability Endeavour in British Columbia (TIDE-BC), Vancouver, Canada; Department of Pediatrics, University of British Columbia, Vancouver, Canada; Department of Pediatrics, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.04.009DOI Listing
July 2017

JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome.

J Allergy Clin Immunol 2017 06 19;139(6):2016-2020.e5. Epub 2017 Jan 19.

Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.12.957DOI Listing
June 2017

Successful clinical treatment and functional immunological normalization of human MALT1 deficiency following hematopoietic stem cell transplantation.

Clin Immunol 2016 07 22;168:1-5. Epub 2016 Apr 22.

Department of Pediatrics, BC Children's Hospital, Child & Family Research Institute, University of British Columbia, Vancouver, BC, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2016.04.011DOI Listing
July 2016

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Authors:
Przemyslaw Szafranski Tomasz Gambin Avinash V Dharmadhikari Kadir Caner Akdemir Shalini N Jhangiani Jennifer Schuette Nihal Godiwala Svetlana A Yatsenko Jessica Sebastian Suneeta Madan-Khetarpal Urvashi Surti Rosanna G Abellar David A Bateman Ashley L Wilson Melinda H Markham Jill Slamon Fernando Santos-Simarro María Palomares Julián Nevado Pablo Lapunzina Brian Hon-Yin Chung Wai-Lap Wong Yoyo Wing Yiu Chu Gary Tsz Kin Mok Eitan Kerem Joel Reiter Namasivayam Ambalavanan Scott A Anderson David R Kelly Joseph Shieh Taryn C Rosenthal Kristin Scheible Laurie Steiner M Anwar Iqbal Margaret L McKinnon Sara Jane Hamilton Kamilla Schlade-Bartusiak Dawn English Glenda Hendson Elizabeth R Roeder Thomas S DeNapoli Rebecca Okashah Littlejohn Daynna J Wolff Carol L Wagner Alison Yeung David Francis Elizabeth K Fiorino Morris Edelman Joyce Fox Denise A Hayes Sandra Janssens Elfride De Baere Björn Menten Anne Loccufier Lieve Vanwalleghem Philippe Moerman Yves Sznajer Amy S Lay Jennifer L Kussmann Jasneek Chawla Diane J Payton Gael E Phillips Erwin Brosens Dick Tibboel Annelies de Klein Isabelle Maystadt Richard Fisher Neil Sebire Alison Male Maya Chopra Jason Pinner Girvan Malcolm Gregory Peters Susan Arbuckle Melissa Lees Zoe Mead Oliver Quarrell Richard Sayers Martina Owens Charles Shaw-Smith Janet Lioy Eileen McKay Nicole de Leeuw Ilse Feenstra Liesbeth Spruijt Frances Elmslie Timothy Thiruchelvam Carlos A Bacino Claire Langston James R Lupski Partha Sen Edwina Popek Paweł Stankiewicz

Hum Genet 2016 May 12;135(5):569-586. Epub 2016 Apr 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s00439-016-1655-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518754PMC
May 2016

IRAK-4 deficiency as a cause for familial fatal invasive infection by Streptococcus pneumoniae.

Clin Immunol 2016 Feb 15;163:14-6. Epub 2015 Dec 15.

Division of Allergy and Clinical Immunology, Department of Pediatrics, British Columbia Children's Hospital and Child & Family Research Institute, University of British Columbia, Vancouver, BC, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2015.12.007DOI Listing
February 2016

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

Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.

Am J Med Genet A 2014 Sep 5;164A(9):2360-4. Epub 2014 Jun 5.

Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Child and Family Research Institute, British Columbia Children's Hospital, Vancouver, BC, Canada.

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http://dx.doi.org/10.1002/ajmg.a.36622DOI Listing
September 2014

Combined immunodeficiency associated with homozygous MALT1 mutations.

J Allergy Clin Immunol 2014 May 12;133(5):1458-62, 1462.e1-7. Epub 2013 Dec 12.

Department of Pediatrics, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2013.10.045DOI Listing
May 2014

Epistatic interactions between modifier genes confer strain-specific redundancy for Tgfb1 in developmental angiogenesis.

Genomics 2005 Jan;85(1):60-70

Mt. Zion Cancer Research Institute, University of California, San Francisco, Box 0875, 2340 Sutter Street, Room S231, San Francisco, CA 94143, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S088875430400256
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http://dx.doi.org/10.1016/j.ygeno.2004.09.003DOI Listing
January 2005

Genetic modifiers interact with maternal determinants in vascular development of Tgfb1(-/-) mice.

Hum Mol Genet 2003 Jul;12(13):1579-89

UCSF Mt Zion Cancer Research Institute, Box 0875, 2340 Sutter Street, San Francisco, CA 94143, USA.

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http://hmg.oxfordjournals.org/content/12/13/1579.full.pdf
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http://dx.doi.org/10.1093/hmg/ddg164DOI Listing
July 2003