Publications by authors named "Lysanne Patry"

20Publications

Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.

J Med Genet 2015 May 3;52(5):303-11. Epub 2015 Feb 3.

CHU Sainte-Justine Research Center, Université de Montréal, Montreal, Canada Department of Neurosciences, Université de Montréal, Montreal, Canada Department of Pediatrics, Université de Montréal, Montreal, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2014-102952DOI Listing
May 2015

Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation.

Clin Dysmorphol 2014 Jul;23(3):88-94

Departments of aGenetics bPediatrics cDepartment of Obstetrics and Gynecology, Division of Maternal Fetal Medicine dDepartment of Medicine, and UAB Osteoporosis Prevention and Treatment Clinic, Division of Clinical Immunology and Rheumatology, the University of Alabama at Birmingham, Birmingham, Alabama, USA eResearch Centre of Ste-Justine Hospital, Department of Medicine, University of Montreal fDepartment of Medicine, University of Montreal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1097/MCD.0000000000000034DOI Listing
July 2014

Bioinactive ACTH causing glucocorticoid deficiency.

J Clin Endocrinol Metab 2013 Feb 4;98(2):736-42. Epub 2013 Jan 4.

Endocrinology Service and Research Center, Centre Hospitalier Universitaire Sainte-Justine, Department of Pediatrics, University of Montreal, Montreal H3T 1C5, Canada.

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http://dx.doi.org/10.1210/jc.2012-3199DOI Listing
February 2013

Mutations in TMEM231 cause Joubert syndrome in French Canadians.

J Med Genet 2012 Oct 25;49(10):636-41. Epub 2012 Sep 25.

Centre of Excellence in Neurosciences of Université de Montréal and Sainte-Justine Hospital Research Center, Montreal, Quebec, Canada H3T 1C5.

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http://dx.doi.org/10.1136/jmedgenet-2012-101132DOI Listing
October 2012

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.

Hum Mutat 2011 Oct 9;32(10):1114-7. Epub 2011 Sep 9.

Department of Human Genetics, McGill University and Genome Quebec Innovation Centre, Canada.

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http://dx.doi.org/10.1002/humu.21546DOI Listing
October 2011

Absence of a differentiation defect in muscle satellite cells from DM2 patients.

Neurobiol Dis 2009 Oct 24;36(1):181-90. Epub 2009 Jul 24.

Human Genetics Research Unit, Laval University, CHUQ, Pavillon CHUL, Ste-Foy, Quebec, Canada, G1V 4G2.

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http://dx.doi.org/10.1016/j.nbd.2009.07.009DOI Listing
October 2009