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Guides
  • 2017
    Guet-Revillet H, Jais JP, Ungeheuer MN, Coignard-Biehler H, Duchatelet S, Delage M, Lam T, Hovnanian A, Lortholary O, Nassif X, Nassif A, Join-Lambert O, The Microbiological Landscape of Anaerobic Infections in Hidradenitis Suppurativa: A Prospective Metagenomic Study, Clin. Infect. Dis. 2017 Jul;65(2):282-291.
  • 2015
    Delage M, Guet-Revillet H, Duchatelet S, Hovnanian A, Nassif X, Nassif A, Join-Lambert O, Deciphering the microbiology of hidradenitis suppurativa: a step forward towards understanding an enigmatic inflammatory skin disease, Exp. Dermatol. 2015 Oct;24(10):736-7.
  • 2015
    Duchatelet S, Miskinyte S, Nassif A, Join-Lambert O, Ungeheuer MN, Hovnanian A., A. First Nicastrin mutation in PASH syndrome Br, J Dermatol 15 Aug;173(2):610-2..
  • 2015
    Duchatelet S, Hovnanian A, Erythrokeratodermia variabilis et progressiva allelic to oculo-dento-digital dysplasia, J. Invest. Dermatol. 2015 Jun;135(6):1475-8.
  • 2015
    Duchatelet S, Hovnanian A, Olmsted syndrome: clinical, molecular and therapeutic aspects, Orphanet J Rare Dis 2015;10:33.
  • 2014
    Ofaiche J, Duchatelet S, Fraitag S, Nassif A, Nougué J, Hovnanian A, Familial pachyonychia congenita with steatocystoma multiplex and multiple abscesses of the scalp due to the p.Asn92Ser mutation in keratin 17, Br. J. Dermatol. 2014 Dec;171(6):1565-7.
  • 2014
    Duchatelet S, Guibbal L, de Veer S, Fraitag S, Nitschké P, Zarhrate M, Bodemer C, Hovnanian A, Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations, Br. J. Dermatol. 2014 Sep;171(3):675-8.
  • 2014
    Duchatelet S, Pruvost S, de Veer S, Fraitag S, Nitschké P, Bole-Feysot C, Bodemer C, Hovnanian A, A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia, JAMA Dermatol 2014 Mar;150(3):303-6.
  • 2014
    Duchatelet S, Hovnanian A, Genetics of atopic dermatitis: beyond filaggrin-the role of thymic stromal lymphopoietin in disease persistence, JAMA Dermatol 2014 Mar;150(3):248-50.
  • 2014
    Ziyadeh-Isleem A, Clatot J, Duchatelet S, Gandjbakhch E, Denjoy I, Hidden-Lucet F, Hatem S, Deschênes I, Coulombe A, Neyroud N, Guicheney P, A truncating SCN5A mutation combined with genetic variability causes sick sinus syndrome and early atrial fibrillation, Heart Rhythm 2014 Jun;11(6):1015-23.
  • 2013
    Duchatelet S, Crotti L, Peat RA, Denjoy I, Itoh H, Berthet M, Ohno S, Fressart V, Monti MC, Crocamo C, Pedrazzini M, Dagradi F, Vicentini A, Klug D, Brink PA, Goosen A, Swan H, Toivonen L, Lahtinen AM, Kontula K, Shimizu W, Horie M, George AL, Trégouët DA, Guicheney P, Schwartz PJ, Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome, Circ Cardiovasc Genet 2013 Aug;6(4):354-61.
  • 2011
    Aliferis K, Hellé S, Gyapay G, Duchatelet S, Stoetzel C, Mandel JL, Dollfus H, Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing, Ophthalmic Genet. 2012 Mar;33(1):18-22.
  • 2010
    Bartos DC, Duchatelet S, Burgess DE, Klug D, Denjoy I, Peat R, Lupoglazoff JM, Fressart V, Berthet M, Ackerman MJ, January CT, Guicheney P, Delisle BP, R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation, Heart Rhythm 2011 Jan;8(1):48-55.
  • 2007
    Duchatelet S, Caillat-Zucman S, Dubois-Laforgue D, Blanc H, Timsit J, Julier C, FCRL3 -169CT functional polymorphism in type 1 diabetes and autoimmunity traits, Biomed. Pharmacother. 2008 Mar;62(3):153-7.
  • 2007
    Chelala C, Duchatelet S, Joffret ML, Bergholdt R, Dubois-Laforgue D, Ghandil P, Pociot F, Caillat-Zucman S, Timsit J, Julier C, PTPN22 R620W functional variant in type 1 diabetes and autoimmunity related traits, Diabetes 2007 Feb;56(2):522-6.
  • 2006
    Senée V, Chelala C, Duchatelet S, Feng D, Blanc H, Cossec JC, Charon C, Nicolino M, Boileau P, Cavener DR, Bougnères P, Taha D, Julier C, Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism, Nat. Genet. 2006 Jun;38(6):682-7.
  • 2004
    Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C, Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes, Hum. Mol. Genet. 2005 Jan;14(1):1-5.
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