Stormorken syndrome or York platelet syndrome: A clinician's dilemma

Por Singh, Amrathlal Rabbind, Morin, Gilles, Rochette, Jacques
Publicado no Mol Genet Metab Rep (2015)

TRIMming down to TRIM37: Relevance to Inflammation, Cardiovascular Disorders, and Cancer in MULIBREY Nanism

Por Brigant, Benjamin, Metzinger-Le Meuth, Valérie, Rochette, Jacques, Metzinger, Laurent
Publicado no Int J Mol Sci (2018)

VEGFA Promoter Polymorphisms rs699947 and rs35569394 Are Associated With the Risk of Anterior Cruciate Ligament Ruptures Among Indian Athletes: A Cross-sectional Study

Por Shukla, Manish, Gupta, Rahul, Pandey, Vivek, Rochette, Jacques, Dhandapany, Perundurai S., Tiwari, Pramod Kumar, Amrathlal, Rabbind Singh
Publicado no Orthop J Sports Med (2020)

Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants

Por Aguilar-Martinez, Patricia, Grandchamp, Bernard, Cunat, Séverine, Cadet, Estelle, Blanc, François, Nourrit, Marlène, Lassoued, Kaiss, Schved, Jean-François, Rochette, Jacques
Publicado em 2011

Human pre-B cell receptor signal transduction: evidence for distinct roles of PI3kinase and MAP-kinase signalling pathways

Por Anbazhagan, Kolandaswamy, Rabbind Singh, Amrathlal, Isabelle, Piec, Stella, Ibata, Céline, Alleaume-De Martel, Bissac, Eliane, Bertrand, Brassart, Rémy, Nyga, Naomi, Taylor, Vincent, Fuentes, Rochette, Jacques, Lassoued, Kaïss
Publicado em 2013

PPARα inhibits vascular smooth muscle cell proliferation underlying intimal hyperplasia by inducing the tumor suppressor p16(INK4a)

Por Gizard, Florence, Amant, Carole, Barbier, Olivier, Bellosta, Stefano, Robillard, Romain, Percevault, Frédéric, Sevestre, Henry, Krimpenfort, Paul, Corsini, Alberto, Rochette, Jacques, Glineur, Corine, Fruchart, Jean-Charles, Torpier, Gérard, Staels, Bart
Publicado em 2005

Linkage of Benign Familial Infantile Convulsions to Chromosome 16p12-q12 Suggests Allelism to the Infantile Convulsions and Choreoathetosis Syndrome

Por Caraballo, Roberto, Pavek, Sylvana, Lemainque, Arnaud, Gastaldi, Marguerite, Echenne, Bernard, Motte, Jacques, Genton, Pierre, Cersósimo, Ricardo, Humbertclaude, Véronique, Fejerman, Natalio, Monaco, Anthony P., Lathrop, Mark G., Rochette, Jacques, Szepetowski, Pierre
Publicado em 2001

Infantile Convulsions with Paroxysmal Dyskinesia (ICCA Syndrome) and Copy Number Variation at Human Chromosome 16p11

Por Roll, Patrice, Sanlaville, Damien, Cillario, Jennifer, Labalme, Audrey, Bruneau, Nadine, Massacrier, Annick, Délepine, Marc, Dessen, Philippe, Lazar, Vladimir, Robaglia-Schlupp, Andrée, Lesca, Gaëtan, Jouve, Elisabeth, Rudolf, Gabrielle, Rochette, Jacques, Lathrop, G. Mark, Szepetowski, Pierre
Publicado em 2010

A new role of glutathione peroxidase 4 during human erythroblast enucleation

Por Ouled-Haddou, Hakim, Messaoudi, Kahia, Demont, Yohann, Lopes dos Santos, Rogiéro, Carola, Candice, Caulier, Alexis, Vong, Pascal, Jankovsky, Nicolas, Lebon, Delphine, Willaume, Alexandre, Demagny, Julien, Boyer, Thomas, Marolleau, Jean-Pierre, Rochette, Jacques, Garçon, Loïc
Publicado no Blood Adv (2020)

PIEZO1 activation delays erythroid differentiation of normal and hereditary xerocytosis-derived human progenitor cells

Por Caulier, Alexis, Jankovsky, Nicolas, Demont, Yohann, Ouled-Haddou, Hakim, Demagny, Julien, Guitton, Corinne, Merlusca, Lavinia, Lebon, Delphine, Vong, Pascal, Aubry, Aurélien, Lahary, Agnès, Rose, Christian, Gréaume, Sandrine, Cardon, Emilie, Platon, Jessica, Ouadid-Ahidouch, Halima, Rochette, Jacques, Marolleau, Jean-Pierre, Picard, Véronique, Garçon, Loïc
Publicado no Haematologica (2020)

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

Por Cloarec, Robin, Bruneau, Nadine, Rudolf, Gabrielle, Massacrier, Annick, Salmi, Manal, Bataillard, Marc, Boulay, Clotilde, Caraballo, Roberto, Fejerman, Natalio, Genton, Pierre, Hirsch, Edouard, Hunter, Alasdair, Lesca, Gaetan, Motte, Jacques, Roubertie, Agathe, Sanlaville, Damien, Wong, Sau-Wei, Fu, Ying-Hui, Rochette, Jacques, Ptáček, Louis J., Szepetowski, Pierre
Publicado em 2012

Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions

Por Lee, Hsien-Yang, Huang, Yong, Bruneau, Nadine, Roll, Patrice, Roberson, Elisha D.O., Hermann, Mark, Quinn, Emily, Maas, James, Edwards, Robert, Ashizawa, Tetsuo, Baykan, Betul, Bhatia, Kailash, Bressman, Susan, Bruno, Michiko K., Brunt, Ewout R., Caraballo, Roberto, Echenne, Bernard, Fejerman, Natalio, Frucht, Steve, Gurnett, Christina A., Hirsch, Edouard, Houlden, Henry, Jankovic, Joseph, Lee, Wei-Ling, Lynch, David R., Mohamed, Shehla, Müller, Ulrich, Nespeca, Mark P., Renner, David, Rochette, Jacques, Rudolf, Gabrielle, Saiki, Shinji, Soong, Bing-Wen, Swoboda, Kathryn J., Tucker, Sam, Wood, Nicholas, Hanna, Michael, Bowcock, Anne, Szepetowski, Pierre, Fu, Ying-Hui, Ptáček, Louis J.
Publicado em 2011