Publications by authors named "Thi Tuyet Mai Nguyen"

23Publications

PIGF deficiency causes a phenotype overlapping with DOORS syndrome.

Hum Genet 2021 Jan 2. Epub 2021 Jan 2.

Department of Pediatrics, CHU Sainte-Justine Research Center, University of Montreal, 3175, Côte-Sainte-Catherine, Montreal, QC, H3T 1C5, Canada.

View Article and Find Full Text PDF
January 2021

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

Am J Hum Genet 2019 09 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:

View Article and Find Full Text PDF
September 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.

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
October 2017