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Page 1
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC. Lacombe D, et al. Among authors: taupiac e. J Med Genet. 2024 May 14:jmg-2023-109438. doi: 10.1136/jmg-2023-109438. Online ahead of print. J Med Genet. 2024. PMID: 38471765 Free article. Review.
Evaluation of Motor Skills in Children with Rubinstein-Taybi Syndrome.
Cazalets JR, Bestaven E, Doat E, Baudier MP, Gallot C, Amestoy A, Bouvard M, Guillaud E, Guillain I, Grech E, Van-Gils J, Fergelot P, Fraisse S, Taupiac E, Arveiler B, Lacombe D. Cazalets JR, et al. Among authors: taupiac e. J Autism Dev Disord. 2017 Nov;47(11):3321-3332. doi: 10.1007/s10803-017-3259-1. J Autism Dev Disord. 2017. PMID: 28748333
A comparative study of cognitive and socio-emotional development in children with Rubinstein-Taybi syndrome and children with Autism Spectrum Disorder associated with a severe intellectual disability, and in young typically developing children with matched developmental ages.
Adrien JL, Taupiac E, Thiébaut E, Paulais MA, Van-Gils J, Kaye K, Blanc R, Gattegno MP, Contejean Y, Michel G, Dean A, Barthélémy C, Lacombe D. Adrien JL, et al. Among authors: taupiac e. Res Dev Disabil. 2021 Sep;116:104029. doi: 10.1016/j.ridd.2021.104029. Epub 2021 Jul 13. Res Dev Disabil. 2021. PMID: 34271530
Behavioral and temperamental features of children with Costello syndrome.
Galéra C, Delrue MA, Goizet C, Etchegoyhen K, Taupiac E, Sigaudy S, Arveiler B, Philip N, Bouvard M, Lacombe D. Galéra C, et al. Among authors: taupiac e. Am J Med Genet A. 2006 May 1;140(9):968-74. doi: 10.1002/ajmg.a.31169. Am J Med Genet A. 2006. PMID: 16575889
Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome.
Galéra C, Taupiac E, Fraisse S, Naudion S, Toussaint E, Rooryck-Thambo C, Delrue MA, Arveiler B, Lacombe D, Bouvard MP. Galéra C, et al. Among authors: taupiac e. J Autism Dev Disord. 2009 Sep;39(9):1252-60. doi: 10.1007/s10803-009-0733-4. Epub 2009 Apr 7. J Autism Dev Disord. 2009. PMID: 19350377
Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study.
Roux-Levy PH, Sanlaville D, De Freminville B, Touraine R, Masurel A, Gueneau I, Cotinaud-Ricou A, Chancenotte S, Debomy F, Minot D, Bournez M, Rousseau I, Daniel S, Gautier E, Lacombe D, Taupiac E, Odent S, Mikaty M, Manouvrier S, Ghoumid J, Geneviève D, Lehman N, Busa T, Edery CP, Cornaton J, Gallard J, Héron D, Rastel C, Thauvin-Robinet C, Verloes A, Binquet C, Faivre L, Lejeune C. Roux-Levy PH, et al. Among authors: taupiac e. Eur J Med Genet. 2021 Oct;64(10):104290. doi: 10.1016/j.ejmg.2021.104290. Epub 2021 Jul 15. Eur J Med Genet. 2021. PMID: 34274527
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.
Lehman N, Mazery AC, Visier A, Baumann C, Lachesnais D, Capri Y, Toutain A, Odent S, Mikaty M, Goizet C, Taupiac E, Jacquemont ML, Sanchez E, Schaefer E, Gatinois V, Faivre L, Minot D, Kayirangwa H, Sang KLQ, Boddaert N, Bayard S, Lacombe D, Moutton S, Touitou I, Rio M, Amiel J, Lyonnet S, Sanlaville D, Picot MC, Geneviève D. Lehman N, et al. Among authors: taupiac e. Clin Genet. 2017 Sep;92(3):298-305. doi: 10.1111/cge.13010. Epub 2017 May 18. Clin Genet. 2017. PMID: 28295206 Free article.
Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome.
Laffargue F, Bourthoumieu S, Llanas B, Baudouin V, Lahoche A, Morin D, Bessenay L, De Parscau L, Cloarec S, Delrue MA, Taupiac E, Dizier E, Laroche C, Bahans C, Yardin C, Lacombe D, Guigonis V. Laffargue F, et al. Among authors: taupiac e. Arch Dis Child. 2015 Mar;100(3):259-64. doi: 10.1136/archdischild-2014-306810. Epub 2014 Oct 16. Arch Dis Child. 2015. PMID: 25324567
11 results