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Page 1
A new cohort of MECP2 mutation screening in unexplained mental retardation: careful re-evaluation is the best indicator for molecular diagnosis.
Donzel-Javouhey A, Thauvin-Robinet C, Cusin V, Madinier N, Manceau E, Dipanda D, Dulieu V, Mugneret F, Huet F, Teyssier JR, Faivre L. Donzel-Javouhey A, et al. Among authors: dulieu v. Am J Med Genet A. 2006 Jul 15;140(14):1603-7. doi: 10.1002/ajmg.a.31314. Am J Med Genet A. 2006. PMID: 16763963 No abstract available.
De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome.
Faivre L, Khau Van Kien P, Callier P, Ruiz-Pallares N, Baudoin C, Plancke A, Wolf JE, Thauvin-Robinet C, Durand E, Minot D, Dulieu V, Metaizeau JD, Leheup B, Coron F, Bidot S, Huet F, Jondeau G, Boileau C, Claustres M, Mugneret F. Faivre L, et al. Among authors: dulieu v. Eur J Med Genet. 2010 Jul-Aug;53(4):208-12. doi: 10.1016/j.ejmg.2010.05.002. Epub 2010 May 15. Eur J Med Genet. 2010. PMID: 20478419
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping.
Nambot S, Masurel A, El Chehadeh S, Mosca-Boidron AL, Thauvin-Robinet C, Lefebvre M, Marle N, Thevenon J, Perez-Martin S, Dulieu V, Huet F, Plessis G, Andrieux J, Jouk PS, Billy-Lopez G, Coutton C, Morice-Picard F, Delrue MA, Heron D, Rooryck C, Goldenberg A, Saugier-Veber P, Joly-Hélas G, Calenda P, Kuentz P, Manouvrier-Hanu S, Dupuis-Girod S, Callier P, Faivre L. Nambot S, et al. Among authors: dulieu v. Eur J Hum Genet. 2016 Jun;24(6):830-7. doi: 10.1038/ejhg.2015.202. Epub 2015 Sep 23. Eur J Hum Genet. 2016. PMID: 26395556 Free PMC article.
Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb-girdle muscular dystrophy-18.
Hadouiri N, Thomas Q, Darmency V, Dulieu V, De Rougemont MM, Bruel AL, Duffourd Y, Lecoquierre F, Colomb B, Perez-Martin S, Ornetti P, Blanchard O, Sorlin A, Philippe C, Faivre L, Vitobello A, Thauvin-Robinet C. Hadouiri N, et al. Among authors: dulieu v. Clin Genet. 2021 Nov;100(5):643-644. doi: 10.1111/cge.14045. Epub 2021 Aug 25. Clin Genet. 2021. PMID: 34435357 No abstract available.
Expression of the multidrug resistance glycoprotein 170 in the peripheral blood lymphocytes of rheumatoid arthritis patients. The percentage of lymphocytes expressing glycoprotein 170 is increased in patients treated with prednisolone.
Maillefert JF, Maynadie M, Tebib JG, Aho S, Walker P, Chatard C, Dulieu V, Bouvier M, Carli PM, Tavernier C. Maillefert JF, et al. Among authors: dulieu v. Br J Rheumatol. 1996 May;35(5):430-5. doi: 10.1093/rheumatology/35.5.430. Br J Rheumatol. 1996. PMID: 8646432
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