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19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.
Trimouille A, Houcinat N, Vuillaume ML, Fergelot P, Boucher C, Toutain J, Caignec CL, Vincent M, Nizon M, Andrieux J, Vanlerberghe C, Delobel B, Duban B, Mansour S, Baple E, McKeown C, Poke G, Robertshaw K, Fifield E, Fabretto A, Pecile V, Gasparini P, Carrozzi M, Lacombe D, Arveiler B, Rooryck C, Moutton S. Trimouille A, et al. Among authors: boucher c. Eur J Hum Genet. 2018 Jan;26(1):85-93. doi: 10.1038/s41431-017-0037-7. Epub 2017 Nov 28. Eur J Hum Genet. 2018. PMID: 29184170 Free PMC article.
First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2.
Vuillaume ML, Valard AG, Houcinat N, Bouron J, Boucher C, Deves S, Toutain J, Schaub B, Adenet C, Lacombe D, Gueneret M, Rooryck C. Vuillaume ML, et al. Among authors: boucher c. Clin Dysmorphol. 2017 Oct;26(4):231-234. doi: 10.1097/MCD.0000000000000192. Clin Dysmorphol. 2017. PMID: 28799946 No abstract available.
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.
Le Meur N, Holder-Espinasse M, Jaillard S, Goldenberg A, Joriot S, Amati-Bonneau P, Guichet A, Barth M, Charollais A, Journel H, Auvin S, Boucher C, Kerckaert JP, David V, Manouvrier-Hanu S, Saugier-Veber P, Frébourg T, Dubourg C, Andrieux J, Bonneau D. Le Meur N, et al. Among authors: boucher c. J Med Genet. 2010 Jan;47(1):22-9. doi: 10.1136/jmg.2009.069732. Epub 2009 Jul 9. J Med Genet. 2010. PMID: 19592390 Free PMC article.
Molecular alterations and tumor suppressive function of the DUSP22 (Dual Specificity Phosphatase 22) gene in peripheral T-cell lymphoma subtypes.
Mélard P, Idrissi Y, Andrique L, Poglio S, Prochazkova-Carlotti M, Berhouet S, Boucher C, Laharanne E, Chevret E, Pham-Ledard A, De Souza Góes AC, Guyonnet-Duperat V, Bibeyran A, Moreau-Gaudry F, Vergier B, Beylot-Barry M, Merlio JP, Cappellen D. Mélard P, et al. Among authors: boucher c. Oncotarget. 2016 Oct 18;7(42):68734-68748. doi: 10.18632/oncotarget.11930. Oncotarget. 2016. PMID: 27626696 Free PMC article.
PLCG1 Gene Mutations Are Uncommon in Cutaneous T-Cell Lymphomas.
Caumont C, Gros A, Boucher C, Mélard P, Prochazkova-Carlotti M, Laharanne E, Pham-Ledard A, Vergier B, Chevret E, Beylot-Barry M, Merlio JP, Cappellen D. Caumont C, et al. Among authors: boucher c. J Invest Dermatol. 2015 Sep;135(9):2334-2337. doi: 10.1038/jid.2015.161. Epub 2015 Apr 24. J Invest Dermatol. 2015. PMID: 25910029 Free article. No abstract available.
860 results