Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Lysanne Patry"'
Autor:
Richard Pelletier, Frederic Hamel, Daniel Beaulieu, Lysanne Patry, Caroline Haineault, Mark Tarnopolsky, Benedikt Schoser, Jack Puymirat
Publikováno v:
Neurobiology of Disease, Vol 36, Iss 1, Pp 181-190 (2009)
Myotonic dystrophy type 1 (DM1) and type II (DM2) are dominantly inherited multisystemic disorders. DM1 is triggered by the pathological expansion of a (CTG)n triplet repeat in the DMPK gene, whereas a (CCTG)n tetranucleotide repeat expansion in the
Externí odkaz:
https://doaj.org/article/ccab7083635f4ddcb63b3361a863e3ff
Autor:
Fadi F Hamdan, Myriam Srour, Jose-Mario Capo-Chichi, Hussein Daoud, Christina Nassif, Lysanne Patry, Christine Massicotte, Amirthagowri Ambalavanan, Dan Spiegelman, Ousmane Diallo, Edouard Henrion, Alexandre Dionne-Laporte, Anne Fougerat, Alexey V Pshezhetsky, Sunita Venkateswaran, Guy A Rouleau, Jacques L Michaud
Publikováno v:
PLoS Genetics, Vol 10, Iss 10, p e1004772 (2014)
Genetics is believed to have an important role in intellectual disability (ID). Recent studies have emphasized the involvement of de novo mutations (DNMs) in ID but the extent to which they contribute to its pathogenesis and the identity of the corre
Externí odkaz:
https://doaj.org/article/8c1a2d50896c473a8cc5a6e4147f3ac6
Autor:
Nicholas Katsanis, Rachel Laframboise, Myriam Srour, Catherine Fallet-Bianco, Erica E. Davis, Alexandre Dionne-Laporte, Anne-Marie Laberge, Guy A. Rouleau, Emmanuelle Lemyre, Luis H. Ospina, Brissa Martin, Mary K. Kukolich, Lysanne Patry, Bruno Maranda, Kym M. Boycott, Dorith Goldsher, Christine Massicotte, F. Rypens, Stavit A. Shalev, Jeremy Schwartzentruber, Fadi F. Hamdan, Orly Elpeleg, Renee-Myriam Boucher, Dianalee McKnight, Damian Labuda, Jacek Majewski, Jean-François Soucy, Hanna Mandel, Jean-Claude Décarie, Catalina Maftei, Christina Nassif, Jacques L. Michaud, Bernard Brais
Publikováno v:
The American Journal of Human Genetics. 97:744-753
Joubert syndrome (JBTS) is a primarily autosomal-recessive disorder characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. JBTS is a genetically heterogeneou
Autor:
Jacques L. Michaud, Guy A. Rouleau, Pierre Drapeau, Edna Brustein, Christina Nassif, Sarah Pickles, Meijiang Liao, Lysanne Patry, Sarah Boissel, Catherine Fallet-Bianco, Jose-Mario Capo-Chichi, Mark E. Samuels, Christine Vande Velde, Damian Labuda, Fadi F. Hamdan, Sylvia Dobrzeniecka
Publikováno v:
Journal of Medical Genetics. 52:303-311
Background The heterogeneous group of 3-methylglutaconic aciduria disorders includes several inborn errors of metabolism that affect mitochondrial function through poorly understood mechanisms. We describe four newborn siblings, from a consanguineous
Autor:
Anna Corradi, Pia Irene Anna Rossi, Amélie Piton, Guy A. Rouleau, Lysanne Patry, Manuela Fadda, Flavia Valtorta, Patrick Cossette, Antonella Marte, Maxime Cadieux-Dion, Line Lapointe, Laurent Mottron, Fabio Benfenati, Anna Fassio, Julie Gauthier
Publikováno v:
Human Molecular Genetics
An increasing number of genes predisposing to autism spectrum disorders (ASD) has been identified, many of which are implicated in synaptic function. This “synaptic autism pathway” notably includes disruption of SYN1 that is associated with epile
Autor:
Johnny Deladoëy, Mark E. Samuels, Guy Van Vliet, Jacek Majewski, Lysanne Patry, Caroline Hasselmann, Cheri Deal, Jean-Marc Vuissoz, Jeremy Schwartzentruber, Najmeh Alirezaie
Publikováno v:
Journal of Genomes and Exomes. 2:19-30
Mutations in the NNT gene (nicotinamide nucleotide transhydrogenase), which is involved in NADPH generation in mitochondria, have recently been described in familial glucocorticoid deficiency. We report two patients, one with isolated glucocorticoid
Autor:
Myriam Srour, Fadi F Hamdan, Jeremy A Schwartzentruber, Lysanne Patry, Luis H Ospina, Michael I Shevell, Valérie Désilets, Sylvia Dobrzeniecka, Géraldine Mathonnet, Emmanuelle Lemyre, Christine Massicotte, Damian Labuda, Dina Amrom, Eva Andermann, Guillaume Sébire, Bruno Maranda, FORGE Canada Consortium, Guy A Rouleau, Jacek Majewski, Jacques L Michaud
Publikováno v:
Journal of Medical Genetics. 49:636-641
Background Joubert syndrome (JBTS) is a predominantly autosomal recessive disorder characterised by a distinctive midhindbrain malformation, oculomotor apraxia, breathing abnormalities and developmental delay. JBTS is genetically heterogeneous, invol
Autor:
Louis-Georges Ste-Marie, Jeremy Schwartzentruber, Kym M. Boycott, Aurore Caqueret, Jean-Pierre Fryns, Jacques L. Michaud, Jacek Majewski, Lysanne Patry, Mark E. Samuels, Hilde Van Esch, Fergus McKiernan, Janet Marcadier, Ivo Marik
Publikováno v:
Human Mutation. 32:1114-1117
Hajdu-Cheney syndrome (HCS) is a rare genetic disorder whose hallmark is acro-osteolysis, shortening of terminal phalanges, and generalized osteoporosis. We assembled a cohort of seven families with the condition and performed whole exome resequencin
Autor:
Christopher R. McMaster, Makoto Matsuoka, Lysanne Patry, Cheri Deal, Jean Paquette, Sandhya Parkash, Christine Macgillivray, Jacques L. Michaud, Mark Ludman, Mathew Nightingale, Susan C. Evans, Haiyan Jiang, Duane L. Guernsey, Marissa A. LeBlanc, Duane W Superneau, David Skidmore, Mark E. Samuels, Aidan Thomas, Sylvie Langlois, Andrew C. Orr, Scott Perry, Andrea L. Rideout, Meghan Ferguson
Publikováno v:
Nature Genetics. 43:360-364
Meier-Gorlin syndrome is a rare autosomal recessive genetic condition whose primary clinical hallmarks include small stature, small external ears and small or absent patellae. Using marker-assisted mapping in multiple families from a founder populati
Autor:
Caroline Haineault, Mark A. Tarnopolsky, Daniel Beaulieu, Frédéric Hamel, Lysanne Patry, Richard Pelletier, Benedikt Schoser, Jack Puymirat
Publikováno v:
Neurobiology of Disease, Vol 36, Iss 1, Pp 181-190 (2009)
Myotonic dystrophy type 1 (DM1) and type II (DM2) are dominantly inherited multisystemic disorders. DM1 is triggered by the pathological expansion of a (CTG)n triplet repeat in the DMPK gene, whereas a (CCTG)n tetranucleotide repeat expansion in the