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Year Citation  Score
2016 Rahman F, Bordignon B, Culerrier R, Peiretti F, Spicuglia S, Djabali M, Landrier JF, Fontes M. Ascorbic acid drives the differentiation of mesoderm-derived embryonic stem cells. Involvement of p38 MAPK/CREB and SVCT2 transporter. Molecular Nutrition & Food Research. PMID 27957816 DOI: 10.1002/Mnfr.201600506  0.758
2016 Bihel F, Gess B, Fontés M. CMTX Disorder and CamKinase. Frontiers in Cellular Neuroscience. 10: 49. PMID 26973463 DOI: 10.3389/Fncel.2016.00049  0.316
2016 Mones S, Gess B, Bordignon B, Altié A, Young P, Bihel F, Fraterno M, Peiretti F, Fontes M. Erratum to: CMTX1 patients' cells present genomic instability corrected by CamKII inhibitors. Orphanet Journal of Rare Diseases. 11: 6. PMID 26809434 DOI: 10.1186/S13023-015-0354-2  0.714
2014 Rahman F, Al Frouh F, Bordignon B, Fraterno M, Landrier JF, Peiretti F, Fontes M. Ascorbic acid is a dose-dependent inhibitor of adipocyte differentiation, probably by reducing cAMP pool. Frontiers in Cell and Developmental Biology. 2: 29. PMID 25364736 DOI: 10.3389/Fcell.2014.00029  0.783
2014 Mones S, Bordignon B, Peiretti F, Landrier JF, Gess B, Bourguignon JJ, Bihel F, Fontés M. CamKII inhibitors reduce mitotic instability, connexon anomalies and progression of the in vivo behavioral phenotype in transgenic animals expressing a mutated Gjb1 gene. Frontiers in Neuroscience. 8: 151. PMID 24982612 DOI: 10.3389/Fnins.2014.00151  0.755
2013 Sallée M, Fontès M, Louis L, Cérini C, Brunet P, Burtey S. Alternative splicing events is not a key event for gene expression regulation in uremia. Plos One. 8: e82702. PMID 24358217 DOI: 10.1371/Journal.Pone.0082702  0.506
2013 Bordignon B, Chiron J, Fontés M. Ascorbic acid derivatives as a new class of antiproliferative molecules. Cancer Letters. 338: 317-27. PMID 23791877 DOI: 10.1016/J.Canlet.2013.06.015  0.743
2013 Rahman F, Fontes M. Ascorbic acid, myelination and associated disorders Pharmanutrition. 1: 98-100. DOI: 10.1016/J.Phanu.2013.04.003  0.635
2012 Mones S, Bordignon B, Fontes M. Connexin 32 is involved in mitosis. Glia. 60: 457-64. PMID 22131286 DOI: 10.1002/Glia.22279  0.757
2011 Bataille S, Berland Y, Fontes M, Burtey S. High Resolution Melt analysis for mutation screening in PKD1 and PKD2. Bmc Nephrology. 12: 57. PMID 22008521 DOI: 10.1186/1471-2369-12-57  0.509
2011 Bataille S, Demoulin N, Devuyst O, Audrézet MP, Dahan K, Godin M, Fontès M, Pirson Y, Burtey S. Association of PKD2 (polycystin 2) mutations with left-right laterality defects. American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation. 58: 456-60. PMID 21719175 DOI: 10.1053/J.Ajkd.2011.05.015  0.547
2010 Belin S, Kaya F, Burtey S, Fontes M. Ascorbic Acid and gene expression: another example of regulation of gene expression by small molecules? Current Genomics. 11: 52-7. PMID 20808524 DOI: 10.2174/138920210790217936  0.772
2009 Micallef J, Attarian S, Dubourg O, Gonnaud PM, Hogrel JY, Stojkovic T, Bernard R, Jouve E, Pitel S, Vacherot F, Remec JF, Jomir L, Azabou E, Al-Moussawi M, Lefebvre MN, ... ... Fontes M, et al. Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial. The Lancet. Neurology. 8: 1103-10. PMID 19818690 DOI: 10.1016/S1474-4422(09)70260-1  0.342
2009 Burtey S, Fontès M, Berland Y. Haemodialysis access via tissue-engineered vascular graft. Lancet (London, England). 374: 199-200; author repl. PMID 19616713 DOI: 10.1016/S0140-6736(09)61326-X  0.384
2009 Belin S, Kaya F, Duisit G, Giacometti S, Ciccolini J, Fontés M. Antiproliferative effect of ascorbic acid is associated with the inhibition of genes necessary to cell cycle progression. Plos One. 4: e4409. PMID 19197388 DOI: 10.1371/Journal.Pone.0004409  0.786
2008 Kaya F, Belin S, Diamantidis G, Fontes M. Ascorbic acid is a regulator of the intracellular cAMP concentration: Old molecule, new functions? Febs Letters. 582: 3614-3618. PMID 18835269 DOI: 10.1016/J.Febslet.2008.09.040  0.776
2008 Burtey S, Riera M, Ribe E, Pennenkamp P, Rance R, Luciani J, Dworniczak B, Mattei MG, Fontés M. Centrosome overduplication and mitotic instability in PKD2 transgenic lines. Cell Biology International. 32: 1193-8. PMID 18725310 DOI: 10.1016/J.Cellbi.2008.07.021  0.574
2008 Kaya F, Belin S, Micallef J, Blin O, Fontés M. Analysis of the benefits of vitamin cocktails in treating Charcot-Marie-Tooth disease type 1A. Muscle & Nerve. 38: 1052-4. PMID 18663735 DOI: 10.1002/Mus.21071  0.761
2008 Burtey SJ, Riera M, Fontés M. Overexpression of complement-component genes in Han:SPRD rats a model of polycystic kidney disease. Kidney International. 73: 1324-5; author reply. PMID 18480855 DOI: 10.1038/Ki.2008.50  0.557
2008 Burtey S, Riera M, Ribe E, Pennekamp P, Passage E, Rance R, Dworniczak B, Fontés M. Overexpression of PKD2 in the mouse is associated with renal tubulopathy. Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association. 23: 1157-65. PMID 18048422 DOI: 10.1093/Ndt/Gfm763  0.576
2007 Gout AM, Ravine D, Harris PC, Rossetti S, Peters D, Breuning M, Henske EP, Koizumi A, Inoue S, Shimizu Y, Thongnoppakhun W, Yenchitsomanus PT, Deltas C, Sandford R, ... ... Fontes M, et al. Analysis of published PKD1 gene sequence variants. Nature Genetics. 39: 427-8. PMID 17392796 DOI: 10.1038/ng0407-427  0.491
2007 Kaya F, Belin S, Bourgeois P, Micaleff J, Blin O, Fontés M. Ascorbic acid inhibits PMP22 expression by reducing cAMP levels. Neuromuscular Disorders : Nmd. 17: 248-53. PMID 17303424 DOI: 10.1016/J.Nmd.2006.12.008  0.779
2006 Riera M, Burtey S, Fontés M. Transcriptome analysis of a rat PKD model: Importance of genes involved in extracellular matrix metabolism. Kidney International. 69: 1558-63. PMID 16541020 DOI: 10.1038/Sj.Ki.5000309  0.569
2005 Cardoso C, Couillault C, Mignon-Ravix C, Millet A, Ewbank JJ, Fontés M, Pujol N. XNP-1/ATR-X acts with RB, HP1 and the NuRD complex during larval development in C. elegans. Developmental Biology. 278: 49-59. PMID 15649460 DOI: 10.1016/J.Ydbio.2004.10.014  0.363
2005 Abidi FE, Cardoso C, Lossi AM, Lowry RB, Depetris D, Mattéi MG, Lubs HA, Stevenson RE, Fontes M, Chudley AE, Schwartz CE. Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome. European Journal of Human Genetics : Ejhg. 13: 176-83. PMID 15508018 DOI: 10.1038/Sj.Ejhg.5201303  0.348
2004 Passage E, Norreel JC, Noack-Fraissignes P, Sanguedolce V, Pizant J, Thirion X, Robaglia-Schlupp A, Pellissier JF, Fontés M. Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Nature Medicine. 10: 396-401. PMID 15034573 DOI: 10.1038/Nm1023  0.776
2003 Norreel JC, Vinay L, Fontes M, Clarac F. Close relationship between motor impairments and loss of functional motoneurons in a Charcot-Marie-Tooth type 1A model. Neuroscience. 116: 695-703. PMID 12573712 DOI: 10.1016/S0306-4522(02)00741-8  0.753
2002 Bienvenu T, Villard L, De Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J. Spectrum of MECP2 mutations in Rett syndrome. Genetic Testing. 6: 1-6. PMID 12180070 DOI: 10.1089/109065702760093843  0.537
2002 Villard L, Fontes M. Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032). European Journal of Human Genetics : Ejhg. 10: 223-5. PMID 12032728 DOI: 10.1038/Sj.Ejhg.5200800  0.499
2001 Norreel JC, Jamon M, Riviere G, Passage E, Fontes M, Clarac F. Behavioural profiling of a murine Charcot-Marie-Tooth disease type 1A model. The European Journal of Neuroscience. 13: 1625-34. PMID 11328356 DOI: 10.1046/J.0953-816X.2001.01535.X  0.769
2000 Briault S, Villard L, Rogner U, Coy J, Odent S, Lucas J, Passage E, Zhu D, Shrimpton A, Pembrey M, Till M, Guichet A, Dessay S, Fontes M, Poustka A, et al. Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]? American Journal of Medical Genetics. 95: 178-81. PMID 11078572 DOI: 10.1002/1096-8628(20001113)95:2<178::Aid-Ajmg17>3.0.Co;2-V  0.533
2000 Villard L, Kpebe A, Cardoso C, Chelly PJ, Tardieu PM, Fontes M. Two affected boys in a Rett syndrome family: clinical and molecular findings. Neurology. 55: 1188-93. PMID 11071498 DOI: 10.1212/Wnl.55.8.1188  0.419
2000 Lossi AM, Colleaux L, Chiaroni P, Fontes M, Villard L, Abidi F, Schwartz C, Briault S, Moraine C. Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families. American Journal of Medical Genetics. 94: 386-8. PMID 11050623 DOI: 10.1002/1096-8628(20001023)94:5<386::Aid-Ajmg8>3.0.Co;2-1  0.527
2000 Cardoso C, Lutz Y, Mignon C, Compe E, Depetris D, Mattei M, Fontes M, Colleaux L. ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein Journal of Medical Genetics. 37: 746-751. PMID 11015451 DOI: 10.1136/Jmg.37.10.746  0.326
2000 Langnaese K, Colleaux L, Kloos DU, Fontes M, Wieacker P. Cloning of Z39Ig, a novel gene with immunoglobulin-like domains located on human chromosome X. Biochimica Et Biophysica Acta. 1492: 522-5. PMID 11004523 DOI: 10.1016/S0167-4781(00)00131-7  0.367
2000 Bienvenu T, Carrié A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J. MECP2 mutations account for most cases of typical forms of Rett syndrome. Human Molecular Genetics. 9: 1377-84. PMID 10814719 DOI: 10.1093/Hmg/9.9.1377  0.545
2000 Sabéran-Djoneidi D, Sanguedolce V, Assouline Z, Lévy N, Passage E, Fontés M. Molecular dissection of the Schwann cell specific promoter of the PMP22 gene. Gene. 248: 223-31. PMID 10806367 DOI: 10.1016/S0378-1119(00)00116-5  0.346
2000 Cardoso C, Mignon C, Hetet G, Grandchamps B, Fontes M, Colleaux L. The human EZH2 gene: genomic organisation and revised mapping in 7q35 within the critical region for malignant myeloid disorders. European Journal of Human Genetics : Ejhg. 8: 174-80. PMID 10780782 DOI: 10.1038/Sj.Ejhg.5200439  0.382
2000 Villard L, des Portes V, Levy N, Louboutin JP, Recan D, Coquet M, Chabrol B, Figarella-Branger D, Chelly J, Pellissier JF, Fontes M. Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28. European Journal of Human Genetics : Ejhg. 8: 125-9. PMID 10757644 DOI: 10.1038/Sj.Ejhg.5200432  0.527
1997 Latour P, Lévy N, Paret M, Chapon F, Chazot G, Clavelou P, Couratier P, Dumas R, Ollagnon E, Pouget J, Setiey A, Vallat JM, Boucherat M, Fontes M, Vandenberghe A. Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population Neurogenetics. 1: 117-123. PMID 10732813 DOI: 10.1007/S100480050017  0.324
1997 Briault S, Hill R, Shrimpton A, Zhu D, Till M, Ronce N, Margaritte-Jeannin P, Baraitser M, Middleton-Price H, Malcolm S, Thompson E, Hoo J, Wilson G, Romano C, Guichet A, ... ... Fontes M, et al. A gene for FG syndrome maps in the Xq12-q21.31 region. American Journal of Medical Genetics. 73: 87-90. PMID 9375929 DOI: 10.1002/(Sici)1096-8628(19971128)73:1<87::Aid-Ajmg17>3.0.Co;2-N  0.307
1997 Hugnot JP, Pedeutour F, Le Calvez C, Grosgeorge J, Passage E, Fontes M, Lazdunski M. The human inward rectifying K+ channel Kir 2.2 (KCNJ12) gene: gene structure, assignment to chromosome 17p11.1, and identification of a simple tandem repeat polymorphism. Genomics. 39: 113-6. PMID 9027495 DOI: 10.1006/Geno.1996.4450  0.332
1997 Jay P, Diriong S, Taviaux S, Roeckel N, Mattéi MG, Audit M, Bergé-Lefranc JL, Fontès M, Berta P. Isolation and regional mapping of cDNAs expressed during early human development. Genomics. 39: 104-8. PMID 9027493 DOI: 10.1006/Geno.1996.4470  0.34
1996 Bergé-Lefranc JL, Jay P, Massacrier A, Cau P, Mattei MG, Bauer S, Marsollier C, Berta P, Fontes M. Characterization of the human jumonji gene. Human Molecular Genetics. 5: 1637-41. PMID 8894700 DOI: 10.1093/Hmg/5.10.1637  0.361
1996 Huxley C, Passage E, Manson A, Putzu G, Figarella-Branger D, Pellissier JF, Fontés M. Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA Human Molecular Genetics. 5: 563-569. PMID 8733121 DOI: 10.1093/Hmg/5.5.563  0.401
1996 Colleaux L, May M, Belougne J, Lepaslier D, Schwartz C, Fontes M. Localisation of two candidate genes for mental retardation using a YAC physical map of the Xq21.1-21.2 subbands. Journal of Medical Genetics. 33: 353-357. PMID 8733041 DOI: 10.1136/Jmg.33.5.353  0.363
1996 Lacombe D, Villard L, Fontès M. Retard mental syndromique et mutations dans le gene XNP Archives De PéDiatrie. 3: S377. DOI: 10.1016/0929-693X(96)86155-0  0.452
1995 Bartoli C, Dagorn JC, Fontes M, Bergé-Lefranc JL. A limited genomic region contains the human REG and REG-related genes. European Journal of Human Genetics. 3: 344-350. PMID 8825576 DOI: 10.1159/000472323  0.336
1995 Villard L, Passage E, Colleaux L, Fontes M. Use of interspersed repetitive sequences-PCR products for cDNA selection. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 6: 617-22. PMID 8535069 DOI: 10.1007/Bf00352368  0.534
1995 Cudrey C, Chevillard C, Paslier DL, Vignal A, Passage E, Fontes M. Assignment of microsatellite sequences to the region duplicated in CMT1A (17p12): a useful tool for diagnosis. Journal of Medical Genetics. 32: 231-233. PMID 7783177 DOI: 10.1136/Jmg.32.3.231  0.646
1995 Gecz J, Gaunt SJ, Passage E, Burton RD, Cudrey C, Pearce JJH, Fontes M. Assignment of a Polycomb-like chromobox gene (CBX2) to human chromosome 17q25. Genomics. 26: 130-133. PMID 7782071 DOI: 10.1016/0888-7543(95)80091-Y  0.35
1995 Villard L, Gecz J, Colleaux L, Lossi AM, Chelly J, Ishikawa-Brush Y, Monaco AP, Fontes M. Construction of a YAC contig spanning the Xq13.3 subband. Genomics. 26: 115-22. PMID 7782069 DOI: 10.1016/0888-7543(95)80089-5  0.526
1993 Moncla A, Piras L, Arbex OF, Muscatelli F, Mattei MG, Mattei JF, Fontes M. Physical mapping of microdeletions of the chromosome 17 short arm associated with Smith-Magenis syndrome. Human Genetics. 90: 657-60. PMID 8444473 DOI: 10.1007/Bf00202487  0.654
1993 Chevillard C, Attali B, Lesage F, Fontes M, Barhanin J, Lazdunski M, Mattei MG. Localization of a potassium channel gene (KCNE1) to 21q22.1-q22.2 by in situ hybridization and somatic cell hybridization. Genomics. 15: 243-5. PMID 8432548 DOI: 10.1006/Geno.1993.1051  0.65
1993 Chevillard C, Reik W, Dermott MM, Fontes M, Mattei MG, Singh PB. Chromosomal localization of human homologs of the Drosophila heterochromatin protein 1 (HP1) gene Mammalian Genome. 4: 124-126. PMID 8431637 DOI: 10.1007/Bf00290438  0.658
1993 Piarroux R, Azaiez R, Lossi AM, Reynier P, Muscatelli F, Gambarelli F, Fontes M, Dumon H, Quilici M. Isolation and characterization of a repetitive DNA sequence from Leishmania infantum: development of a visceral leishmaniasis polymerase chain reaction. The American Journal of Tropical Medicine and Hygiene. 49: 364-9. PMID 8372958 DOI: 10.4269/ajtmh.1993.49.364  0.591
1992 Muscatelli F, Verna JM, Philip N, Moncla A, Mattei MG, Mattei JF, Fontes M. Physical mapping of an Xq-proximal interstitial duplication in a male. Human Genetics. 88: 691-4. PMID 1551675 DOI: 10.1007/Bf02265299  0.633
1992 Muscatelli F, Monaco AP, Goodfellow PN, Hors-Cayla MC, Lehrach H, Fontes M. Isolation of new probes from Xq12-->q13: an example of the screening of reference libraries with Alu-PCR products from radiation hybrids. Cytogenetics and Cell Genetics. 61: 109-13. PMID 1395715 DOI: 10.1159/000133383  0.628
1992 Muscatelli F, Lena D, Mettei MG, Fontes M. A male with two contiguous inactivation centers on a single X chromosome: study of X inactivation and XIST expression Human Molecular Genetics. 1: 115-119. PMID 1301147 DOI: 10.1093/Hmg/1.2.115  0.658
1990 Bakalara N, Collet J, Planells R, Thouveny Y, Fontes M. Presence in invertebrate genomes of sequences characterized by the repetition of the triplet CCPurine. Biochemical and Biophysical Research Communications. 166: 66-73. PMID 2105723 DOI: 10.1016/0006-291X(90)91912-C  0.696
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