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Delineation of 15q13.3 microdeletions.
Masurel-Paulet A, Andrieux J, Callier P, Cuisset JM, Le Caignec C, Holder M, Thauvin-Robinet C, Doray B, Flori E, Alex-Cordier MP, Beri M, Boute O, Delobel B, Dieux A, Vallee L, Jaillard S, Odent S, Isidor B, Beneteau C, Vigneron J, Bilan F, Gilbert-Dussardier B, Dubourg C, Labalme A, Bidon C, Gautier A, Pernes P, Pinoit JM, Huet F, Mugneret F, Aral B, Jonveaux P, Sanlaville D, Faivre L. Masurel-Paulet A, et al. Among authors: pernes p. Clin Genet. 2010 Aug;78(2):149-61. doi: 10.1111/j.1399-0004.2010.01374.x. Epub 2010 Feb 9. Clin Genet. 2010. PMID: 20236110
Helicobacter pylori infection in cohabiting children.
Vincent P, Gottrand F, Pernes P, Husson MA, Beju A, Leclerc H, Farriaux JP. Vincent P, et al. Among authors: pernes p. Lancet. 1991 Apr 6;337(8745):848. doi: 10.1016/0140-6736(91)92550-l. Lancet. 1991. PMID: 1672930 No abstract available.
Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis.
Masurel-Paulet A, Drumare I, Holder M, Cuisset JM, Vallée L, Defoort S, Bourgois B, Pernes P, Cuvellier JC, Huet F, Chehadeh SE, Thevenon J, Callier P, Thauvin C, Faivre L, Andrieux J. Masurel-Paulet A, et al. Among authors: pernes p. Am J Med Genet A. 2014 Jun;164A(6):1537-44. doi: 10.1002/ajmg.a.36471. Epub 2014 Mar 25. Am J Med Genet A. 2014. PMID: 24668847