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yves mathieu
yves mathieu
Consultant at World Health Organization
Verified email at lecnam.net
Title
Cited by
Cited by
Year
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
3272002
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
1662009
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
1132001
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
582013
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
391975
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
362015
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
362009
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
352013
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
332008
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
252016
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
222015
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
71976
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
71976
Calpainopathy in Chile, first cases reported
J Bevilacqua, Y Mathieu, M Krahn, M Bartoli, C Castiglioni, K Kleinsteuber, ...
Neuromuscular Disorders 26, S91, 2016
42016
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
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Articles 1–16