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Page 1
Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.
Corsini C, Gencik M, Willems M, Decker E, Sanchez E, Puechberty J, Schneider A, Girard M, Edery P, Bretonnes P, Cottalorda J, Lefort G, Jeandel C, Sarda P, Genevieve D. Corsini C, et al. Among authors: girard m. Eur J Hum Genet. 2014 Jan;22(1):136-9. doi: 10.1038/ejhg.2013.56. Epub 2013 Apr 10. Eur J Hum Genet. 2014. PMID: 23572024 Free PMC article.
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.
Tran Mau-Them F, Willems M, Albrecht B, Sanchez E, Puechberty J, Endele S, Schneider A, Ruiz Pallares N, Missirian C, Rivier F, Girard M, Holder M, Manouvrier S, Touitou I, Lefort G, Sarda P, Moncla A, Drunat S, Wieczorek D, Genevieve D. Tran Mau-Them F, et al. Among authors: girard m. Eur J Hum Genet. 2014 Feb;22(2):289-92. doi: 10.1038/ejhg.2013.113. Epub 2013 May 15. Eur J Hum Genet. 2014. PMID: 23674175 Free PMC article.
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.
Doco-Fenzy M, Leroy C, Schneider A, Petit F, Delrue MA, Andrieux J, Perrin-Sabourin L, Landais E, Aboura A, Puechberty J, Girard M, Tournaire M, Sanchez E, Rooryck C, Ameil A, Goossens M, Jonveaux P, Lefort G, Taine L, Cailley D, Gaillard D, Leheup B, Sarda P, Geneviève D. Doco-Fenzy M, et al. Among authors: girard m. Eur J Hum Genet. 2014 Apr;22(4):471-9. doi: 10.1038/ejhg.2013.189. Epub 2013 Oct 16. Eur J Hum Genet. 2014. PMID: 24129437 Free PMC article.
Identification of disrupted AUTS2 and EPHA6 genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder.
Schneider A, Puechberty J, Ng BL, Coubes C, Gatinois V, Tournaire M, Girard M, Dumont B, Bouret P, Magnetto J, Baghdadli A, Pellestor F, Geneviève D. Schneider A, et al. Among authors: girard m. Am J Med Genet A. 2015 Dec;167A(12):3031-7. doi: 10.1002/ajmg.a.37350. Epub 2015 Sep 3. Am J Med Genet A. 2015. PMID: 26333717
A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis).
Grandemange S, Sanchez E, Louis-Plence P, Tran Mau-Them F, Bessis D, Coubes C, Frouin E, Seyger M, Girard M, Puechberty J, Costes V, Rodière M, Carbasse A, Jeziorski E, Portales P, Sarrabay G, Mondain M, Jorgensen C, Apparailly F, Hoppenreijs E, Touitou I, Geneviève D. Grandemange S, et al. Among authors: girard m. Ann Rheum Dis. 2017 Jul;76(7):1191-1198. doi: 10.1136/annrheumdis-2016-210021. Epub 2016 Dec 13. Ann Rheum Dis. 2017. PMID: 27965258
Disease Activity in Pregnant and Postpartum Women With Multiple Sclerosis Receiving Ocrelizumab or Other Disease-Modifying Therapies.
Yeh WZ, Van Der Walt A, Skibina OG, Kalincik T, Alroughani R, Kermode AG, Fabis-Pedrini MJ, Carroll WM, Lechner-Scott J, Boz C, Ozakbas S, Buzzard K, Habek M, John NA, Prat A, Girard M, Duquette P, Baghbanian SM, Hodgkinson S, Van Pesch V, Laureys G, Willekens B, Prevost J, Foschi M, De Gans K, Horakova D, Havrdova EK, Karabudak R, Patti F, Mccombe PA, Maimone D, Altintas A, Ampapa R, Spitaleri D, Gerlach OHH, Sa MJ, Hughes S, Gouider R, Mrabet S, Macdonell RA, Turkoglu R, Cartechini E, Al-Asmi A, Soysal A, Oh J, Muros-Le Rouzic E, Guye S, Pasquarelli N, Butzkueven H, Jokubaitis VG; MSBase Study Group. Yeh WZ, et al. Among authors: girard m. Neurol Neuroimmunol Neuroinflamm. 2024 Nov;11(6):e200328. doi: 10.1212/NXI.0000000000200328. Epub 2024 Oct 23. Neurol Neuroimmunol Neuroinflamm. 2024. PMID: 39442037 Free PMC article.
1,815 results