Thi Tuyet Mai Nguyen

Thi Tuyet Mai Nguyen

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Thi Tuyet Mai Nguyen

Thi Tuyet Mai Nguyen

Publications by authors named "Thi Tuyet Mai Nguyen"

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17Publications

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Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.

Am J Hum Genet 2019 Sep 11;105(3):625-630. Epub 2019 Jul 11.

Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731352PMC
September 2019

Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants.

Mol Genet Genomic Med 2019 Jul 24;7(7):e00743. Epub 2019 May 24.

CHU Sainte-Justine Research Center, University of Montreal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/mgg3.743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625143PMC
July 2019

Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders.

Clin Genet 2019 01 16;95(1):112-121. Epub 2018 Aug 16.

Department of Pediatrics, University of Montreal, Montreal QC, Canada.

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http://dx.doi.org/10.1111/cge.13425DOI Listing
January 2019

A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism.

Hum Mutat 2018 06 26;39(6):827-829. Epub 2018 Apr 26.

CHU Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada.

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http://dx.doi.org/10.1002/humu.23426DOI Listing
June 2018

Four New Lignans and IL-2 Inhibitors from Magnoliae Flos.

Chem Pharm Bull (Tokyo) 2017 ;65(9):840-847

College of Pharmacy, Research Institute of Pharmaceutical Sciences, Kyungpook National University.

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https://www.jstage.jst.go.jp/article/cpb/65/9/65_c17-00314/_
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http://dx.doi.org/10.1248/cpb.c17-00314DOI Listing
October 2017

Mutations in the phosphatidylinositol glycan C () gene are associated with epilepsy and intellectual disability.

J Med Genet 2017 03 30;54(3):196-201. Epub 2016 Sep 30.

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1136/jmedgenet-2016-104202DOI Listing
March 2017

Presence of urotensin-II receptors at the cell nucleus: specific tissue distribution and hypoxia-induced modulation.

Int J Biochem Cell Biol 2012 Apr 9;44(4):639-47. Epub 2012 Jan 9.

Laboratoire d'études moléculaires et pharmacologiques des peptides, Université du Québec, INRS-Institut Armand-Frappier, Ville de Laval, Qc, Canada.

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http://dx.doi.org/10.1016/j.biocel.2011.12.022DOI Listing
April 2012