Publications by authors named "Julien L Marcadier"

11Publications

Tatton-Brown-Rahman syndrome: Six individuals with novel features.

Am J Med Genet A 2020 04 21;182(4):673-680. Epub 2020 Jan 21.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.61475DOI Listing
April 2020

Vitamin D-Binding Protein Deficiency and Homozygous Deletion of the GC Gene. Reply.

N Engl J Med 2019 06;380(26):2586-2587

Alberta Children's Hospital, Calgary, AB, Canada

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http://dx.doi.org/10.1056/NEJMc1905282DOI Listing
June 2019

Vitamin D-Binding Protein Deficiency and Homozygous Deletion of the Gene.

N Engl J Med 2019 03;380(12):1150-1157

From the Departments of Laboratory Medicine (C.M.H., S.L.F., T.J.L., K.J.J., A.N.H.) and Medicine (A.N.H.) and the Kidney Research Institute (A.N.H.), University of Washington, Seattle; and the Department of Endocrinology and Metabolism (H.B.) and the Alberta Children's Hospital Research Institute (B.A.), University of Calgary, and the Division of Medical Genetics, Alberta Children's Hospital (R.L., P.F., J.L.M.), Calgary, and the Department of Pathology, Children's & Women's Health Centre of British Columbia, Vancouver (L.B.) - all in Canada.

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http://dx.doi.org/10.1056/NEJMoa1807841DOI Listing
March 2019

Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation.

CMAJ 2015 Feb 1;187(2):102-107. Epub 2014 Dec 1.

Department of Genetics (Marcadier), Children's Hospital of Eastern Ontario; Division of Gastroenterology, Hepatology and Nutrition (Boland), Children's Hospital of Eastern Ontario; Department of Pediatrics (Boland, Issa, Geraghty, Lines), University of Ottawa and Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ont.; Department of Pediatrics (Scott, Wu), University of Washington, Seattle, Wash.; Robarts Research Institute (McIntyre, Hegele), Schulich School of Medicine and Dentistry, Western University, London, Ont.; Metabolics (Geraghty, Lines), Children's Hospital of Eastern Ontario, Ottawa, Ont.

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http://dx.doi.org/10.1503/cmaj.140657DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312148PMC
February 2015

Replication inhibitors modulate instability of an expanded trinucleotide repeat at the myotonic dystrophy type 1 disease locus in human cells.

Am J Hum Genet 2003 Nov 21;73(5):1092-105. Epub 2003 Oct 21.

Program of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180489PMC
http://dx.doi.org/10.1086/379523DOI Listing
November 2003

Fidelity of primate cell repair of a double-strand break within a (CTG).(CAG) tract. Effect of slipped DNA structures.

J Biol Chem 2003 Sep 14;278(36):33848-56. Epub 2003 Jun 14.

Department of Molecular & Medical Genetics, University of Toronto, Ontario M5A 1X8, Canada.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M304284200
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http://dx.doi.org/10.1074/jbc.M304284200DOI Listing
September 2003