Zobrazeno 1 - 10
of 102
pro vyhledávání: '"Julie, Gauthier"'
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:
Camille Tremblay-Laganière, Sophie Ehresmann, Alina Levtova, Julie Gauthier, He Fu, Robert McEvilly, Michael Rosenfeld, Elisabeth Simard-Tremblay, Isabelle DeBie, Jean-Francois Soucy, Jacques Michaud, Emmanuelle Lemyre, Philippe Campeau
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100360- (2023)
Externí odkaz:
https://doaj.org/article/dc8772d77727464f9b1b970faad75df1
Autor:
François Marceau, Georges-Etienne Rivard, Jacques Hébert, Julie Gauthier, Hélène Bachelard, Tanja Gangnus, Bjoern B. Burckhardt
Publikováno v:
Frontiers in Allergy, Vol 3 (2022)
BackgroundHereditary angioedema (HAE) is a rare autosomal dominant disease; the most well understood forms concern the haplodeficiency of C1 esterase inhibitor (C1INH) and a gain of function mutation of factor XII (FXII). The acute forms of these con
Externí odkaz:
https://doaj.org/article/d6d6984eeddc4df18e7c64ca05824963
Autor:
Somayyeh Fahiminiya, Spyros Oikonomopoulos, Georges‐Etienne Rivard, Mira Gandhi, Patrick Scott, Alexandre Montpetit, Shu‐Huang Chen, KyungHee Park, Catherine Vezina, Jiannis Ragoussis, Claudia M. B. Carvalho, Grant A. Mitchell, Jean‐Francois Soucy, Julie Gauthier
Publikováno v:
Haemophilia. 29:921-924
Autor:
Evemie Dubé, Clémence Merlen, Arnaud Bonnefoy, Josie Pilon, Nichan Zourikian, Julie Gauthier, Jean St‐Louis, Georges‐Étienne Rivard
Publikováno v:
Haemophilia. 29:348-351
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:
Julie Gauthier
Publikováno v:
Cahiers internationaux de sociolinguistique. :75-85
Autor:
Georges-Etienne Rivard, Christophe Zawadzki, Laura L. Swystun, Yohann Jourdy, Loubna Jouan, Sophie Susen, Fanny Lassalle, Jenny Goudemand, Julie Gauthier, David Lillicrap
Publikováno v:
Haemophilia. 26:1056-1063
Background The causative variant remains unidentified in 2%-5% of haemophilia A (HA) patients despite an exhaustive sequencing of the full F8 coding sequence, splice consensus sequences, 5'/3' untranslated regions and copy number variant (CNV) analys
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:
Ali Amid, Heather Perkins, Georges-Etienne Rivard, Manuel Carcao, Robert J. Klaassen, Julie Gauthier, Arnaud Bonnefoy
Publikováno v:
Haemophilia. 27