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Page 1
Vertebral defects as an unusual mode of presentation of 22q11.2 deletion.
Faivre L, Masurel-Paulet A, Callier P, Mejean N, Gay S, Grimaldi M, Mugneret F, Huet F, Thauvin-Robinet C. Faivre L, et al. Among authors: mejean n. Am J Med Genet A. 2009 Dec;149A(12):2865-6. doi: 10.1002/ajmg.a.32974. Am J Med Genet A. 2009. PMID: 19921642 No abstract available.
Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication.
Mosca AL, Callier P, Faivre L, Marle N, Mejean N, Thauvin-Robinet C, Masurel-Paulet A, Madinier N, Durand C, Couillaud G, Ragot S, Huet F, Teyssier JR, Mugneret F. Mosca AL, et al. Among authors: mejean n. Am J Med Genet A. 2009 Mar;149A(3):475-81. doi: 10.1002/ajmg.a.32665. Am J Med Genet A. 2009. PMID: 19213026
Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH.
Masurel-Paulet A, Callier P, Thauvin-Robinet C, Chouchane M, Mejean N, Marle N, Mosca AL, Ben Salem D, Giroud M, Guibaud L, Huet F, Mugneret F, Faivre L. Masurel-Paulet A, et al. Among authors: mejean n. Am J Med Genet A. 2009 Jul;149A(7):1504-10. doi: 10.1002/ajmg.a.32904. Am J Med Genet A. 2009. PMID: 19533778
17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome.
El Chehadeh-Djebbar S, Callier P, Masurel-Paulet A, Bensignor C, Méjean N, Payet M, Ragon C, Durand C, Marle N, Mosca-Boidron AL, Huet F, Mugneret F, Faivre L, Thauvin-Robinet C. El Chehadeh-Djebbar S, et al. Among authors: mejean n. Eur J Med Genet. 2011 May-Jun;54(3):369-73. doi: 10.1016/j.ejmg.2011.03.001. Epub 2011 Mar 30. Eur J Med Genet. 2011. PMID: 21397059
De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection.
Thevenon J, Callier P, Thauvin-Robinet C, Mejean N, Falcon-Eicher S, Maynadie M, de Maistre E, Bidot S, Huet F, Beri-Dexheimer M, Jonveaux P, Mugneret F, Faivre L. Thevenon J, et al. Among authors: mejean n. Am J Med Genet A. 2011 Jan;155A(1):126-9. doi: 10.1002/ajmg.a.33809. Am J Med Genet A. 2011. PMID: 21204219 No abstract available.
Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.
Darmency-Stamboul V, Burglen L, Lopez E, Mejean N, Dean J, Franco B, Rodriguez D, Lacombe D, Desguerres I, Cormier-Daire V, Doray B, Pasquier L, Gonzales M, Pastore M, Crenshaw ML, Huet F, Gigot N, Aral B, Callier P, Faivre L, Attié-Bitach T, Thauvin-Robinet C. Darmency-Stamboul V, et al. Among authors: mejean n. Eur J Med Genet. 2013 Jun;56(6):301-8. doi: 10.1016/j.ejmg.2013.03.004. Epub 2013 Mar 21. Eur J Med Genet. 2013. PMID: 23523602
Lipoleiomyoma of the uterus: imaging features.
Loffroy R, Nezzal N, Mejean N, Sagot P, Krausé D. Loffroy R, et al. Among authors: mejean n. Gynecol Obstet Invest. 2008;66(2):73-5. doi: 10.1159/000127409. Epub 2008 Apr 22. Gynecol Obstet Invest. 2008. PMID: 18431071
22 results