Wnt glycoproteins regulate the expression of FoxN1, the gene defective in nude mice G Balciunaite, MP Keller, E Balciunaite, L Piali, S Zuklys, YD Mathieu, ... Nature immunology 3 (11), 1102-1108, 2002 | 327 | 2002 |
Mutational, functional, and expression studies of the TCF4 gene in Pitt‐Hopkins syndrome L de Pontual, Y Mathieu, C Golzio, M Rio, V Malan, N Boddaert, C Soufflet, ... Human mutation 30 (4), 669-676, 2009 | 166 | 2009 |
Regulation of human telomerase activity: repression by normal chromosome 3 abolishes nuclear telomerase reverse transcriptase transcripts but does not affect c-Myc activity AL Ducrest, M Amacker, YD Mathieu, AP Cuthbert, DA Trott, RF Newbold, ... Cancer Research 61 (20), 7594-7602, 2001 | 113 | 2001 |
Defective prolactin signaling impairs pancreatic β-cell development during the perinatal period J Auffret, M Freemark, N Carré, Y Mathieu, C Tourrel-Cuzin, M Lombès, ... American Journal of Physiology-Endocrinology and Metabolism 305 (10), E1309 …, 2013 | 58 | 2013 |
Motion of both mitral valve leaflets: a cineroentgenographic study in intact dogs AG Tsakiris, DA Gordon, Y Mathieu, L Irving Journal of applied physiology 39 (3), 359-366, 1975 | 39 | 1975 |
Exon 32 skipping of dysferlin rescues membrane repair in patients’ cells F Barthélémy, C Blouin, N Wein, V Mouly, S Courrier, E Dionnet, ... Journal of neuromuscular diseases 2 (3), 281-290, 2015 | 36 | 2015 |
In Vitro studies of non poly alanine PHOX2B mutations argue against a loss‐of‐function mechanism for congenital central hypoventilation D Trochet, Y Mathieu, L Pontual, R Savarirayan, A Munnich, JF Brunet, ... Human mutation 30 (2), E421-E431, 2009 | 36 | 2009 |
Contributions of PHOX2B in the Pathogenesis of Hirschsprung Disease RM Fernández, Y Mathieu, B Luzon-Toro, R Núñez-Torres, ... PloS one 8 (1), e54043, 2013 | 35 | 2013 |
Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse) D Trochet, L de Pontual, MH Estêvao, Y Mathieu, A Munnich, J Feingold, ... Human mutation 29 (5), 770-770, 2008 | 33 | 2008 |
Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing A Sevy, M Cerino, S Gorokhova, E Dionnet, Y Mathieu, A Verschueren, ... Journal of Neurology, Neurosurgery & Psychiatry 87 (3), 340-342, 2016 | 25 | 2016 |
Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders S Gorokhova, M Cerino, Y Mathieu, S Courrier, JP Desvignes, D Salgado, ... Applied & Translational Genomics 7, 26-31, 2015 | 22 | 2015 |
Sudden interruption of leaflet opening by ventricular contractions: a mechanism of mitral regurgitation AG Tsakiris, DA Gordon, Y Mathieu, R Padiyar, C Labrosse Journal of Applied Physiology 40 (2), 132-137, 1976 | 7 | 1976 |
Time-motion of both mitral leaflets early in diastole AG Tsakiris, DA Gordon, Y Mathieu, I Lipton The Mitral Valve: A Pluridisciplinary Approach, 27-32, 1976 | 7 | 1976 |
Calpainopathy in Chile, first cases reported J Bevilacqua, Y Mathieu, M Krahn, M Bartoli, C Castiglioni, K Kleinsteuber, ... Neuromuscular Disorders 26, S91, 2016 | 4 | 2016 |
19th International Congress of The World Muscle Society S Gorokhova, M Cerino, Y Mathieu, S Courrier, JP Desvignes, D Salgado, ... Neuromuscular Disorders 24 (9-10), 749, 2014 | | 2014 |
Articles in PresS. Am J Physiol Endocrinol Metab (September 24, 2013). doi: 10.1152/ajpendo. 00636.2012 J Auffret, M Freemark, N Carré, Y Mathieu, C Tourrel, ML Cuzin, ... | | 2013 |