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Page 1
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Fergelot P, Van Belzen M, Van Gils J, Afenjar A, Armour CM, Arveiler B, Beets L, Burglen L, Busa T, Collet M, Deforges J, de Vries BB, Dominguez Garrido E, Dorison N, Dupont J, Francannet C, Garciá-Minaúr S, Gabau Vila E, Gebre-Medhin S, Gener Querol B, Geneviève D, Gérard M, Gervasini CG, Goldenberg A, Josifova D, Lachlan K, Maas S, Maranda B, Moilanen JS, Nordgren A, Parent P, Rankin J, Reardon W, Rio M, Roume J, Shaw A, Smigiel R, Sojo A, Solomon B, Stembalska A, Stumpel C, Suarez F, Terhal P, Thomas S, Touraine R, Verloes A, Vincent-Delorme C, Wincent J, Peters DJ, Bartsch O, Larizza L, Lacombe D, Hennekam RC. Fergelot P, et al. Am J Med Genet A. 2016 Dec;170(12):3069-3082. doi: 10.1002/ajmg.a.37940. Epub 2016 Sep 20. Am J Med Genet A. 2016. PMID: 27648933
Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.
Nurden P, Debili N, Coupry I, Bryckaert M, Youlyouz-Marfak I, Solé G, Pons AC, Berrou E, Adam F, Kauskot A, Lamazière JM, Rameau P, Fergelot P, Rooryck C, Cailley D, Arveiler B, Lacombe D, Vainchenker W, Nurden A, Goizet C. Nurden P, et al. Among authors: fergelot p. Blood. 2011 Nov 24;118(22):5928-37. doi: 10.1182/blood-2011-07-365601. Epub 2011 Sep 29. Blood. 2011. PMID: 21960593 Free article.
[Costello syndrome: report of a case].
Tajir M, Fergelot P, Lancelot G, Arveiler B, Elalaoui SC, Lacombe D, Sefiani A. Tajir M, et al. Among authors: fergelot p. Pan Afr Med J. 2012;12:64. Epub 2012 Jul 4. Pan Afr Med J. 2012. PMID: 23024823 Free PMC article. French.
Germline mosaicism in Rubinstein-Taybi syndrome.
Tajir M, Fergelot P, Lancelot G, Elalaoui SC, Arveiler B, Lacombe D, Sefiani A. Tajir M, et al. Among authors: fergelot p. Gene. 2013 Apr 15;518(2):476-8. doi: 10.1016/j.gene.2012.12.105. Epub 2013 Jan 23. Gene. 2013. PMID: 23352794
A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies.
Moutton S, Fergelot P, Trocello JM, Plante-Bordeneuve V, Houcinat N, Wenisch E, Larue V, Brugières P, Clot F, Lacombe D, Arveiler B, Goizet C. Moutton S, et al. Among authors: fergelot p. Parkinsonism Relat Disord. 2014 Aug;20(8):935-7. doi: 10.1016/j.parkreldis.2014.04.026. Epub 2014 May 9. Parkinsonism Relat Disord. 2014. PMID: 24907184 No abstract available.
Fetal phenotypes in otopalatodigital spectrum disorders.
Naudion S, Moutton S, Coupry I, Sole G, Deforges J, Guerineau E, Hubert C, Deves S, Pilliod J, Rooryck C, Abel C, Le Breton F, Collardeau-Frachon S, Cordier MP, Delezoide AL, Goldenberg A, Loget P, Melki J, Odent S, Patrier S, Verloes A, Viot G, Blesson S, Bessières B, Lacombe D, Arveiler B, Goizet C, Fergelot P. Naudion S, et al. Among authors: fergelot p. Clin Genet. 2016 Mar;89(3):371-7. doi: 10.1111/cge.12679. Epub 2015 Oct 29. Clin Genet. 2016. PMID: 26404489
89 results