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[Contribution and limits of lean management in the organization and working of a pathology department].
Ramla S, Funes de la Vega M, Tarris G, Pap V, Aubignat D, Dubois LM, Andrianiaina H, Bretagne CH, Millière A, Tournier B, Harizay F, Douchet C, Callanan M, Falatin C, Chapusot C, Aubriot-Lorton MH, Martin L. Ramla S, et al. Ann Pathol. 2021 Apr;41(2):176-185. doi: 10.1016/j.annpat.2020.06.012. Epub 2020 Jul 6. Ann Pathol. 2021. PMID: 32646777 French.
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.
Courcet JB, Elalaoui SC, Duplomb L, Tajir M, Rivière JB, Thevenon J, Gigot N, Marle N, Aral B, Duffourd Y, Sarasin A, Naim V, Courcet-Degrolard E, Aubriot-Lorton MH, Martin L, Abrid JE, Thauvin C, Sefiani A, Vabres P, Faivre L. Courcet JB, et al. Eur J Hum Genet. 2015 Jul;23(7):957-62. doi: 10.1038/ejhg.2014.213. Epub 2014 Oct 15. Eur J Hum Genet. 2015. PMID: 25315659 Free PMC article.
Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis.
Sorlin A, Maruani A, Aubriot-Lorton MH, Kuentz P, Duffourd Y, Teysseire S, Carmignac V, St-Onge J, Chevarin M, Jouan T, Thauvin-Robinet C, Thevenon J, Faivre L, Rivière JB, Vabres P. Sorlin A, et al. J Invest Dermatol. 2017 Jul;137(7):1575-1578. doi: 10.1016/j.jid.2017.01.035. Epub 2017 Feb 28. J Invest Dermatol. 2017. PMID: 28257793 Free article. No abstract available.
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Carmignac V, Mignot C, Blanchard E, Kuentz P, Aubriot-Lorton MH, Parker VER, Sorlin A, Fraitag S, Courcet JB, Duffourd Y, Rodriguez D, Knox RG, Polubothu S, Boland A, Olaso R, Delepine M, Darmency V, Riachi M, Quelin C, Rollier P, Goujon L, Grotto S, Capri Y, Jacquemont ML, Odent S, Amram D, Chevarin M, Vincent-Delorme C, Catteau B, Guibaud L, Arzimanoglou A, Keddar M, Sarret C, Callier P, Bessis D, Geneviève D, Deleuze JF, Thauvin C, Semple RK, Philippe C, Rivière JB, Kinsler VA, Faivre L, Vabres P. Carmignac V, et al. Genet Med. 2021 Aug;23(8):1484-1491. doi: 10.1038/s41436-021-01161-6. Epub 2021 Apr 8. Genet Med. 2021. PMID: 33833411 Free PMC article.
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Carmignac V, Mignot C, Blanchard E, Kuentz P, Aubriot-Lorton MH, Parker VER, Sorlin A, Fraitag S, Courcet JB, Duffourd Y, Rodriguez D, Knox RG, Polubothu S, Boland A, Olaso R, Delepine M, Darmency V, Riachi M, Quelin C, Rollier P, Goujon L, Grotto S, Capri Y, Jacquemont ML, Odent S, Amram D, Chevarin M, Vincent-Delorme C, Catteau B, Guibaud L, Arzimanoglou A, Keddar M, Sarret C, Callier P, Bessis D, Geneviève D, Deleuze JF, Thauvin C, Semple RK, Philippe C, Rivière JB, Kinsler VA, Faivre L, Vabres P. Carmignac V, et al. Genet Med. 2021 Aug;23(8):1585. doi: 10.1038/s41436-021-01217-7. Genet Med. 2021. PMID: 34257424 Free PMC article. No abstract available.
Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.
Thevenon J, Monnier N, Callier P, Dieterich K, Francoise M, Montgomery T, Kjaergaard S, Neas K, Dixon J, Dahm TL, Huet F, Ragon C, Mosca-Boidron AL, Marle N, Duplomb L, Aubriot-Lorton MH, Mugneret F, Vokes SA, Tucker HW, Lunardi J, Faivre L, Jouk PS, Thauvin-Robinet C. Thevenon J, et al. Am J Med Genet A. 2014 Dec;164A(12):3027-34. doi: 10.1002/ajmg.a.36751. Epub 2014 Sep 24. Am J Med Genet A. 2014. PMID: 25258245
Cutaneous B-cell lymphoblastic lymphoma in children: a rare diagnosis.
Boccara O, Laloum-Grynberg E, Jeudy G, Aubriot-Lorton MH, Vabres P, de Prost Y, Pacquement H, Brousse N, Fraitag S, Bodemer C. Boccara O, et al. J Am Acad Dermatol. 2012 Jan;66(1):51-7. doi: 10.1016/j.jaad.2010.10.040. Epub 2011 Jul 13. J Am Acad Dermatol. 2012. PMID: 21745698
55 results