Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Jean‐François Soucy"'
Autor:
Marjolaine Champagne, Gabriella A. Horvath, Sébastien Perreault, Julie Gauthier, Keith Hyland, Jean‐François Soucy, Grant A. Mitchell
Publikováno v:
JIMD Reports, Vol 63, Iss 5, Pp 400-406 (2022)
Abstract Tyrosine hydroxylase deficiency (THD) is a treatable inborn error of dopamine biosynthesis caused by mutations in TH. Two presentations are described. Type A, milder, presents after 12 months of age with progressive hypokinesis and rigidity.
Externí odkaz:
https://doaj.org/article/70fa26e26ecf46a1ad40d7b3663f4916
Autor:
Hao Yang, Francis Rossignol, Denis Cyr, Rachel Laframboise, Shu Pei Wang, Jean-François Soucy, Marie-Thérèse Berthier, Yves Giguère, Paula J. Waters, Grant A. Mitchell
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 14, Iss C, Pp 55-58 (2018)
Background: A high level of succinylacetone (SA) in blood is a sensitive, specific marker for the screening and diagnosis of hepatorenal tyrosinemia (HT1, MIM 276700). HT1 is caused by mutations in the FAH gene, resulting in deficiency of fumarylacet
Externí odkaz:
https://doaj.org/article/95486fd6a0e04bf1be78ba0866a34b6f
Publikováno v:
Canadian Journal of Ophthalmology.
Autor:
Hans-Jürgen Kreienkamp, Matias Wagner, Heike Weigand, Allyn McConkie-Rossell, Marie McDonald, Boris Keren, Cyril Mignot, Julie Gauthier, Jean-François Soucy, Jacques L. Michaud, Meghan Dumas, Rosemarie Smith, Ulrike Löbel, Maja Hempel, Christian Kubisch, Jonas Denecke, Philippe M. Campeau, Jennifer M. Bain, Davor Lessel
Publikováno v:
Human Genetics. 141:257-272
Bain type of X-linked syndromic intellectual developmental disorder, caused by pathogenic missense variants in HRNRPH2, was initially described in six female individuals affected by moderate-to-severe neurodevelopmental delay. Although it was initial
Autor:
Sophie Ehresmann, Hyunyun Kim, Virginie Saillour, Smrithi Salian, Guylaine DʹAmours, Philippe M. Campeau, Julie Gauthier, Jean-François Soucy, Grant A. Mitchell, Eliane Beauregard-Lacroix, Geneviève Bernard, Jacques L. Michaud
Publikováno v:
Eur J Hum Genet
Neonatal progeroid syndrome, also known as Wiedemann–Rautenstrauch syndrome, is a rare condition characterized by severe growth retardation, apparent macrocephaly with prominent scalp veins, and lipodystrophy. It is caused by biallelic variants in
Autor:
Grant A. Mitchell, Pat Scott, Georges-Etienne Rivard, Somayyeh Fahiminiya, Jean-François Soucy, Francois Bacot, William D. Foulkes, Jean St-Louis, Julie Gauthier, Alexandre Montpetit
Publikováno v:
Haemophilia : the official journal of the World Federation of Hemophilia. 27(5)
Autor:
Mona Harissi-Dagher, Jean-François Soucy, Benjamin Ellezam, Patrick Hamel, Grant A. Mitchell, Cristina Bostan
Publikováno v:
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie. 56(4)
Prenatal pleural effusions and chylothorax: An unusual presentation for CM-AVM syndrome due to RASA1
Autor:
Sophie Laberge, Jean-François Soucy, Josée Dubois, M. Delrue, Guylaine D’Amours, Catherine Brunel-Guitton
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 182(10)
Autor:
Marie-Thérèse Berthier, Yves Giguère, Paula J. Waters, Rachel Laframboise, Jean-François Soucy, Denis Cyr, Grant A. Mitchell, Hao Yang, Francis Rossignol, Shu Pei Wang
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 14, Iss C, Pp 55-58 (2018)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Background A high level of succinylacetone (SA) in blood is a sensitive, specific marker for the screening and diagnosis of hepatorenal tyrosinemia (HT1, MIM 276700 ). HT1 is caused by mutations in the FAH gene, resulting in deficiency of fumarylacet
Autor:
Georges-Etienne Rivard, William D. Foulkes, Pat Scott, Alexandre Montpetit, Grant A. Mitchell, Jean-François Soucy, Somayyeh Fahiminiya, Francois Bacot, Julie Gauthier, Jean St-Louis
Publikováno v:
Molecular Genetics and Metabolism. 132:S285-S286