Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Virginie Saillour"'
Autor:
Ferran Casals, Alan Hodgkinson, Julie Hussin, Youssef Idaghdour, Vanessa Bruat, Thibault de Maillard, Jean-Christophe Grenier, Elias Gbeha, Fadi F Hamdan, Simon Girard, Jean-François Spinella, Mathieu Larivière, Virginie Saillour, Jasmine Healy, Isabel Fernández, Daniel Sinnett, Jacques L Michaud, Guy A Rouleau, Elie Haddad, Françoise Le Deist, Philip Awadalla
Publikováno v:
PLoS Genetics, Vol 9, Iss 9, p e1003815 (2013)
Whole-exome or gene targeted resequencing in hundreds to thousands of individuals has shown that the majority of genetic variants are at low frequency in human populations. Rare variants are enriched for functional mutations and are expected to expla
Externí odkaz:
https://doaj.org/article/9cc47deb1ace4078a7e93a220fcc9d66
Autor:
Tomi Pastinen, Daniel Sinnett, Arnaud Droit, Shu-Huang Chen, Jasmine Healy, Chantal Richer, Virginie Saillour, Jean-François Spinella, Ramon Vidal, Bing Ge, Stephan Busche
PDF - 2252K, Hierarchical clustering of pre-B ALL sample-derived methylation levels in defined CpG-site regions
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f2f0be28ebf4951743ffff60b131a42
https://doi.org/10.1158/0008-5472.22397771
https://doi.org/10.1158/0008-5472.22397771
Autor:
Tomi Pastinen, Daniel Sinnett, Arnaud Droit, Shu-Huang Chen, Jasmine Healy, Chantal Richer, Virginie Saillour, Jean-François Spinella, Ramon Vidal, Bing Ge, Stephan Busche
PDF - 30K, Legend for Supplementary Figures S1-S5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18fb739e93255bd5e96936fdd3ff2d25
https://doi.org/10.1158/0008-5472.22397780.v1
https://doi.org/10.1158/0008-5472.22397780.v1
Autor:
Tomi Pastinen, Daniel Sinnett, Arnaud Droit, Shu-Huang Chen, Jasmine Healy, Chantal Richer, Virginie Saillour, Jean-François Spinella, Ramon Vidal, Bing Ge, Stephan Busche
XLSX file - 370K, Annotation of CpG-site interrogating probes (S1); Summary of RNA-sequencing generated for each patient sample on the SOLiD 4 system (S2); Percentage of probes within a given cross-sample standard deviation (SD)-range for normal (N)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9403522c795baac42998ae6289d11545
https://doi.org/10.1158/0008-5472.22397756.v1
https://doi.org/10.1158/0008-5472.22397756.v1
Autor:
Tomi Pastinen, Daniel Sinnett, Arnaud Droit, Shu-Huang Chen, Jasmine Healy, Chantal Richer, Virginie Saillour, Jean-François Spinella, Ramon Vidal, Bing Ge, Stephan Busche
PDF - 47K, Additional experimental data including clinical sample analysis, principal component analysis, RNA sequencing/expression analysis profile, ingenuity pathway analysis, and RNA expression validation through quantitative real-time RT-PCR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c179036e3f0c237a1c1260a1af4601b0
https://doi.org/10.1158/0008-5472.22397759
https://doi.org/10.1158/0008-5472.22397759
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:
Virginie Saillour, Jean-Madeleine de Sainte Agathe, Valérie Touitou, Pauline Gaignard, Claire Ewenczyk, Anne-Laure Fauret, Benoit Rucheton, Fanny Mochel, Sarah Leonard-Louis
Publikováno v:
Neurology Genetics
Neurology Genetics, American Academy of Neurology, 2021, 7 (6), pp.e630. ⟨10.1212/nxg.0000000000000630⟩
Neurology: Genetics
article-version (Version of Record) 3
Neurology Genetics, 2021, 7 (6), pp.e630. ⟨10.1212/nxg.0000000000000630⟩
Neurology Genetics, American Academy of Neurology, 2021, 7 (6), pp.e630. ⟨10.1212/nxg.0000000000000630⟩
Neurology: Genetics
article-version (Version of Record) 3
Neurology Genetics, 2021, 7 (6), pp.e630. ⟨10.1212/nxg.0000000000000630⟩
SCO2 encodes a 266-amino-acid metallochaperone involved in copper supply for the assembly of cytochrome c oxidase or complex IV (CIV). CIV is the terminal enzyme of the energy-transducing respiratory chain that transfers electrons from reduced cytoch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa6262496d02dcfd6c04a3b216de2b0f
https://hal.sorbonne-universite.fr/hal-03426463/file/e630.full.pdf
https://hal.sorbonne-universite.fr/hal-03426463/file/e630.full.pdf
Autor:
Frédéric Galactéros, Catherine Garel, Arnaud Petit, Pablo Bartolucci, Benoît Funalot, Lydie Burglen, Virginie Saillour, Lamisse Mansour-Hendili, Abdelrazak Aissat, Leila Qebibo, Ariane Lunati, Christine Gameiro, Diane Doummar, Pascale Fanen, Hélène Lapillonne
Publikováno v:
American Journal of Hematology. 96
Autor:
Thomas Sontag, Mark D. Minden, Sylvie Langlois, Pascal St-Onge, Daniel Sinnett, Manon Ouimet, Jean-François Spinella, Jasmine Healy, Virginie Saillour, Chantal Richer, Pauline Cassart
Publikováno v:
Oncotarget
// Jean-Francois Spinella 1 , Pauline Cassart 1 , Chantal Richer 1 , Virginie Saillour 1 , Manon Ouimet 1 , Sylvie Langlois 1 , Pascal St-Onge 1 , Thomas Sontag 1 , Jasmine Healy 1 , Mark D. Minden 2 , Daniel Sinnett 1, 3 1 CHU Sainte-Justine Researc
Autor:
Nathalie Alos, T. Leblanc, Sonia Nizard, V-A Pelletier, Y. Capri, Fátima Lopes, Virginie Saillour, Christina Nassif, Emmanuelle Lemyre, J-F Soucy, Guylaine D’Amours, Julie Gauthier, Jacques L. Michaud, Yves D. Pastore, R. Wynn
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Accepted manuscript
Inherited bone marrow failure syndromes (IBMFS) are caused by mutations in genes involved in genomic stability. Although they may be recognized by the association of typical clinical features, variable penetrance and expressi
Inherited bone marrow failure syndromes (IBMFS) are caused by mutations in genes involved in genomic stability. Although they may be recognized by the association of typical clinical features, variable penetrance and expressi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8eb6a75fd5cf5d7513401cda966b3f67