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Page 1
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
Piard J, Aral B, Vabres P, Holder-Espinasse M, Mégarbané A, Gauthier S, Capra V, Pierquin G, Callier P, Baumann C, Pasquier L, Baujat G, Martorell L, Rodriguez A, Brady AF, Boralevi F, González-Enseñat MA, Rio M, Bodemer C, Philip N, Cordier MP, Goldenberg A, Demeer B, Wright M, Blair E, Puzenat E, Parent P, Sznajer Y, Francannet C, DiDonato N, Boute O, Barlogis V, Moldovan O, Bessis D, Coubes C, Tardieu M, Cormier-Daire V, Sousa AB, Franques J, Toutain A, Tajir M, Elalaoui SC, Geneviève D, Thevenon J, Courcet JB, Rivière JB, Collet C, Gigot N, Faivre L, Thauvin-Robinet C. Piard J, et al. Among authors: tardieu m. Clin Genet. 2015 Mar;87(3):244-51. doi: 10.1111/cge.12361. Epub 2014 Mar 26. Clin Genet. 2015. PMID: 24635570
Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.
Piard J, Holder-Espinasse M, Aral B, Gigot N, Rio M, Tardieu M, Puzenat E, Goldenberg A, Toutain A, Franques J, MacDermot K, Bessis D, Boute O, Callier P, Gueneau L, Huet F, Vabres P, Catteau B, Faivre L, Thauvin-Robinet C. Piard J, et al. Among authors: tardieu m. Eur J Med Genet. 2012 Jan;55(1):8-11. doi: 10.1016/j.ejmg.2011.07.004. Epub 2011 Aug 18. Eur J Med Genet. 2012. PMID: 21872685
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.
Bonnet C, Andrieux J, Béri-Dexheimer M, Leheup B, Boute O, Manouvrier S, Delobel B, Copin H, Receveur A, Mathieu M, Thiriez G, Le Caignec C, David A, de Blois MC, Malan V, Philippe A, Cormier-Daire V, Colleaux L, Flori E, Dollfus H, Pelletier V, Thauvin-Robinet C, Masurel-Paulet A, Faivre L, Tardieu M, Bahi-Buisson N, Callier P, Mugneret F, Edery P, Jonveaux P, Sanlaville D. Bonnet C, et al. Among authors: tardieu m. J Med Genet. 2010 Jun;47(6):377-84. doi: 10.1136/jmg.2009.071902. J Med Genet. 2010. PMID: 20522426
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.
de Pontual L, Mathieu Y, Golzio C, Rio M, Malan V, Boddaert N, Soufflet C, Picard C, Durandy A, Dobbie A, Heron D, Isidor B, Motte J, Newburry-Ecob R, Pasquier L, Tardieu M, Viot G, Jaubert F, Munnich A, Colleaux L, Vekemans M, Etchevers H, Lyonnet S, Amiel J. de Pontual L, et al. Among authors: tardieu m. Hum Mutat. 2009 Apr;30(4):669-76. doi: 10.1002/humu.20935. Hum Mutat. 2009. PMID: 19235238
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.
Héron B, Mikaeloff Y, Froissart R, Caridade G, Maire I, Caillaud C, Levade T, Chabrol B, Feillet F, Ogier H, Valayannopoulos V, Michelakakis H, Zafeiriou D, Lavery L, Wraith E, Danos O, Heard JM, Tardieu M. Héron B, et al. Among authors: tardieu m. Am J Med Genet A. 2011 Jan;155A(1):58-68. doi: 10.1002/ajmg.a.33779. Am J Med Genet A. 2011. PMID: 21204211
MECP2 mutations account for most cases of typical forms of Rett syndrome.
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. Bienvenu T, et al. Among authors: tardieu m. Hum Mol Genet. 2000 May 22;9(9):1377-84. doi: 10.1093/hmg/9.9.1377. Hum Mol Genet. 2000. PMID: 10814719
Parental origin of de novo MECP2 mutations in Rett syndrome.
Girard M, Couvert P, Carrié A, Tardieu M, Chelly J, Beldjord C, Bienvenu T. Girard M, et al. Among authors: tardieu m. Eur J Hum Genet. 2001 Mar;9(3):231-6. doi: 10.1038/sj.ejhg.5200618. Eur J Hum Genet. 2001. PMID: 11313764
417 results