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Reversed actinic damage in two children with xeroderma pigmentosum treated with topical imiquimod.

Latour I, Hernández-Martín A, Ged C, Knöpfel N, Taïeb A, Torrelo A.

J Eur Acad Dermatol Venereol. 2018 Jan 29. doi: 10.1111/jdv.14818. [Epub ahead of print] No abstract available.


ADAR1 splicing mutation leading to dyschromatosis hereditaria in a Caucasian patient.

Petre J, Lasseaux E, Ged C, Arveiler B, Taïeb A, Morice-Picard F.

J Eur Acad Dermatol Venereol. 2018 Feb;32(2):e79-e80. doi: 10.1111/jdv.14530. Epub 2017 Oct 5. No abstract available.


Diagnosis of Xeroderma pigmentosum variant in a young patient with two novel mutations in the POLH gene.

De Palma A, Morren MA, Ged C, Pouvelle C, Taïeb A, Aoufouchi S, Sarasin A.

Am J Med Genet A. 2017 Sep;173(9):2511-2516. doi: 10.1002/ajmg.a.38340. Epub 2017 Jul 8.


Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.

Blouin JM, Bernardo-Seisdedos G, Sasso E, Esteve J, Ged C, Lalanne M, Sanz-Parra A, Urquiza P, de Verneuil H, Millet O, Richard E.

Hum Mol Genet. 2017 Apr 15;26(8):1565-1576. doi: 10.1093/hmg/ddx067.


Hemolytic anemia repressed hepcidin level without hepatocyte iron overload: lesson from Günther disease model.

Millot S, Delaby C, Moulouel B, Lefebvre T, Pilard N, Ducrot N, Ged C, Lettéron P, de Franceschi L, Deybach JC, Beaumont C, Gouya L, De Verneuil H, Lyoumi S, Puy H, Karim Z.

Haematologica. 2017 Feb;102(2):260-270. doi: 10.3324/haematol.2016.151621. Epub 2016 Nov 10.


Identification of a novel alpha1-antitrypsin variant.

de Seynes C, Ged C, de Verneuil H, Chollet N, Balduyck M, Raherison C.

Respir Med Case Rep. 2016 Nov 18;20:64-67. doi: 10.1016/j.rmcr.2016.11.008. eCollection 2017.


UGT1A1 genotype and irinotecan therapy: general review and implementation in routine practice.

Etienne-Grimaldi MC, Boyer JC, Thomas F, Quaranta S, Picard N, Loriot MA, Narjoz C, Poncet D, Gagnieu MC, Ged C, Broly F, Le Morvan V, Bouquié R, Gaub MP, Philibert L, Ghiringhelli F, Le Guellec C; Collective work by Groupe de Pharmacologie Clinique Oncologique (GPCO-Unicancer); French Réseau National de Pharmacogénétique Hospitalière (RNPGx).

Fundam Clin Pharmacol. 2015 Jun;29(3):219-37. doi: 10.1111/fcp.12117. Epub 2015 May 4.


Manipulation of flavour and aroma compound sequestration and release using a glycosyltransferase with specificity for terpene alcohols.

Yauk YK, Ged C, Wang MY, Matich AJ, Tessarotto L, Cooney JM, Chervin C, Atkinson RG.

Plant J. 2014 Oct;80(2):317-30. doi: 10.1111/tpj.12634. Epub 2014 Sep 8.


[Interest of UGT1A1 genotyping within digestive cancers treatment by irinotecan].

Boyer JC, Etienne-Grimaldi MC, Thomas F, Quaranta S, Picard N, Loriot MA, Poncet D, Gagnieu MC, Ged C, Broly F, Le Morvan V, Bouquié R, Gaub MP, Philibert L, Ghiringhelli F, Le Guellec C.

Bull Cancer. 2014 Jun;101(6):533-53. doi: 10.1684/bdc.2014.1933. Review. French.


Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.

Callebaut I, Joubrel R, Pissard S, Kannengiesser C, Gérolami V, Ged C, Cadet E, Cartault F, Ka C, Gourlaouen I, Gourhant L, Oudin C, Goossens M, Grandchamp B, De Verneuil H, Rochette J, Férec C, Le Gac G.

Hum Mol Genet. 2014 Sep 1;23(17):4479-90. doi: 10.1093/hmg/ddu160. Epub 2014 Apr 8.


Inaugural cerebral sinovenous thrombosis revealing homocystinuria in a 2-year-old boy.

Saboul C, Darteyre S, Ged C, Fichtner C, Gay C, Stephan JL.

J Child Neurol. 2015 Jan;30(1):107-12. doi: 10.1177/0883073813520502. Epub 2014 Mar 5.


Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria.

Blouin JM, Duchartre Y, Costet P, Lalanne M, Ged C, Lain A, Millet O, de Verneuil H, Richard E.

Proc Natl Acad Sci U S A. 2013 Nov 5;110(45):18238-43. doi: 10.1073/pnas.1314177110. Epub 2013 Oct 21.


Report of a novel Indian case of congenital erythropoietic porphyria and overview of therapeutic options.

Pandey M, Mukherjee SB, Patra B, Kapoor S, Ged C, Aneja S, Seth A.

J Pediatr Hematol Oncol. 2013 May;35(4):e167-70. doi: 10.1097/MPH.0b013e3182707218.


Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases.

Katugampola RP, Badminton MN, Finlay AY, Whatley S, Woolf J, Mason N, Deybach JC, Puy H, Ged C, de Verneuil H, Hanneken S, Minder E, Schneider-Yin X, Anstey AV.

Br J Dermatol. 2012 Oct;167(4):901-13. doi: 10.1111/j.1365-2133.2012.11160.x. Epub 2012 Sep 18.


A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases.

Katugampola RP, Anstey AV, Finlay AY, Whatley S, Woolf J, Mason N, Deybach JC, Puy H, Ged C, de Verneuil H, Hanneken S, Minder E, Schneider-Yin X, Badminton MN.

Br J Dermatol. 2012 Oct;167(4):888-900. doi: 10.1111/j.1365-2133.2012.11154.x. Epub 2012 Sep 18.


Metabolic correction of congenital erythropoietic porphyria with iPSCs free of reprogramming factors.

Bedel A, Taillepierre M, Guyonnet-Duperat V, Lippert E, Dubus P, Dabernat S, Mautuit T, Cardinaud B, Pain C, Rousseau B, Lalanne M, Ged C, Duchartre Y, Richard E, de Verneuil H, Moreau-Gaudry F.

Am J Hum Genet. 2012 Jul 13;91(1):109-21. doi: 10.1016/j.ajhg.2012.05.026.


Usefulness of a global clinical ichthyosis vulgaris scoring system for predicting common FLG null mutations in an adult caucasian population.

Ezzedine K, Droitcourt C, Ged C, Diallo A, Hubiche T, de Verneuil H, Boralevi F, Taïeb A.

Br J Dermatol. 2012 Nov;167(5):1165-9. doi: 10.1111/j.1365-2133.2012.11062.x. Epub 2012 Sep 7.


[Molecular diagnosis of HFE mutations in routine laboratories. Results of a survey from reference laboratories in France].

Jouanolle AM, Gérolami V, Ged C, Grandchamp B, Le Gac G, Pissard S, Rochette J, Aguilar-Martinez P.

Ann Biol Clin (Paris). 2012 May-Jun;70(3):305-13. doi: 10.1684/abc.2012.0704. French.


Loss of epidermal hypoxia-inducible factor-1α accelerates epidermal aging and affects re-epithelialization in human and mouse.

Rezvani HR, Ali N, Serrano-Sanchez M, Dubus P, Varon C, Ged C, Pain C, Cario-André M, Seneschal J, Taïeb A, de Verneuil H, Mazurier F.

J Cell Sci. 2011 Dec 15;124(Pt 24):4172-83. doi: 10.1242/jcs.082370. Epub 2011 Dec 22.


A prospective study of filaggrin null mutations in keratoconus patients with or without atopic disorders.

Droitcourt C, Touboul D, Ged C, Ezzedine K, Cario-André M, de Verneuil H, Colin J, Taïeb A.

Dermatology. 2011;222(4):336-41. doi: 10.1159/000328408. Epub 2011 Jun 23.


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