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Items: 1 to 50 of 92

1.

Phlebotomy as an efficient long-term treatment of congenital erythropoietic porphyria.

Mirmiran A, Poli A, Ged C, Schmitt C, Lefebvre T, Manceau H, Daher R, Moulouel B, Peoc'h K, Simonin S, Blouin JM, Deybach JC, Nicolas G, Puy H, Richard E, Gouya L.

Haematologica. 2020 Jan 9. pii: haematol.2019.228270. doi: 10.3324/haematol.2019.228270. [Epub ahead of print] No abstract available.

2.

Bone Marrow Transplantation in Congenital Erythropoietic Porphyria: Sustained Efficacy but Unexpected Liver Dysfunction.

Besnard C, Schmitt C, Galmiche-Rolland L, Debray D, Fabre M, Molina T, Gouya L, Ged C, Castelle M, Cavazzana M, Magrin E, Neven B, Moshous D, Blanche S, Frémond ML.

Biol Blood Marrow Transplant. 2019 Dec 14. pii: S1083-8791(19)30867-5. doi: 10.1016/j.bbmt.2019.12.005. [Epub ahead of print]

PMID:
31843562
3.

Genetic background influences hepcidin response to iron imbalance in a mouse model of hemolytic anemia (Congenital erythropoietic porphyria).

Lefebvre T, Millot S, Richard E, Blouin JM, Lalanne M, Lamrissi-Garcia I, Costet P, Lyoumi S, Gouya L, Puy H, Moreau-Gaudry F, de Verneuil H, Karim Z, Ged C.

Biochem Biophys Res Commun. 2019 Dec 3;520(2):297-303. doi: 10.1016/j.bbrc.2019.09.141. Epub 2019 Oct 7.

PMID:
31601421
4.

Compound heterozygosity for novel KRT85 variants associated with pure hair and nail ectodermal dysplasia.

Amico S, Ged C, Taïeb A, Morice-Picard F.

J Eur Acad Dermatol Venereol. 2019 Dec;33(12):e458-e459. doi: 10.1111/jdv.15777. Epub 2019 Jul 19. No abstract available.

PMID:
31273852
5.

Recurrent posterior reversible encephalopathy syndrome in a patient with acute intermittent porphyria.

Fourgeaud M, Vidal T, Schmitt C, Blouin JM, Ged C, Richard E.

Rev Neurol (Paris). 2020 Jan - Feb;176(1-2):118-120. doi: 10.1016/j.neurol.2019.02.003. Epub 2019 May 29. No abstract available.

PMID:
31153599
6.

Xeroderma pigmentosum in South Africa: Evidence for a prevalent founder effect.

Kgokolo M, Morice-Picard F, Rezvani HR, Austerlitz F, Cartault F, Sarasin A, Sathekge M, Taieb A, Ged C.

Br J Dermatol. 2019 Nov;181(5):1070-1072. doi: 10.1111/bjd.18030. Epub 2019 Jul 24. No abstract available.

PMID:
31017654
7.

CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations.

Cullot G, Boutin J, Toutain J, Prat F, Pennamen P, Rooryck C, Teichmann M, Rousseau E, Lamrissi-Garcia I, Guyonnet-Duperat V, Bibeyran A, Lalanne M, Prouzet-Mauléon V, Turcq B, Ged C, Blouin JM, Richard E, Dabernat S, Moreau-Gaudry F, Bedel A.

Nat Commun. 2019 Mar 8;10(1):1136. doi: 10.1038/s41467-019-09006-2.

8.

The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism.

Ka C, Guellec J, Pepermans X, Kannengiesser C, Ged C, Wuyts W, Cassiman D, de Ledinghen V, Varet B, de Kerguenec C, Oudin C, Gourlaouen I, Lefebvre T, Férec C, Callebaut I, Le Gac G.

Haematologica. 2018 Nov;103(11):1796-1805. doi: 10.3324/haematol.2018.189845. Epub 2018 Jul 12.

9.

Pigmentation abnormalities in nucleotide excision repair disorders: Evidence and hypotheses.

Kasraian Z, Trompezinski S, Cario-André M, Morice-Picard F, Ged C, Jullie ML, Taieb A, Rezvani HR.

Pigment Cell Melanoma Res. 2019 Jan;32(1):25-40. doi: 10.1111/pcmr.12720. Epub 2018 Jul 13. Review.

PMID:
29938913
10.

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 Jul;32(7):e282-e284. doi: 10.1111/jdv.14818. Epub 2018 Feb 23. No abstract available.

PMID:
29377344
11.

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.

PMID:
28833649
12.

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.

PMID:
28688171
13.

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.

PMID:
28334762
14.

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.

15.

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.

16.

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.

PMID:
25817555
17.

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.

18.

[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.

PMID:
24977443
19.

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.

PMID:
24714983
20.

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.

PMID:
24598125
21.

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.

22.

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.

PMID:
23612387
23.

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.

PMID:
22816431
24.

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.

PMID:
22804244
25.

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.

26.

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.

PMID:
22612618
27.

[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.

28.

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.

29.

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.

PMID:
21701148
30.

ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.

To-Figueras J, Ducamp S, Clayton J, Badenas C, Delaby C, Ged C, Lyoumi S, Gouya L, de Verneuil H, Beaumont C, Ferreira GC, Deybach JC, Herrero C, Puy H.

Blood. 2011 Aug 11;118(6):1443-51. doi: 10.1182/blood-2011-03-342873. Epub 2011 Jun 7.

PMID:
21653323
31.

[Congenital erythropoeietic porphyria treated by haematopoietic stem cell allograft].

Lebreuilly-Sohyer I, Morice A, Acher A, Dompmartin A, Clement C, de Verneuil H, Ged C, Leroy D, Verneuil L.

Ann Dermatol Venereol. 2010 Oct;137(10):635-9. doi: 10.1016/j.annder.2010.06.018. Epub 2010 Aug 13. French.

PMID:
20932444
32.

Modeling of congenital erythropoietic porphyria by RNA interference: a new tool for preclinical gene therapy evaluation.

Robert-Richard E, Lalanne M, Lamrissi-Garcia I, Guyonnet-Duperat V, Richard E, Pitard V, Mazurier F, Moreau-Gaudry F, Ged C, de Verneuil H.

J Gene Med. 2010 Aug;12(8):637-46. doi: 10.1002/jgm.1478.

PMID:
20586119
33.

A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.

Soufir N, Ged C, Bourillon A, Austerlitz F, Chemin C, Stary A, Armier J, Pham D, Khadir K, Roume J, Hadj-Rabia S, Bouadjar B, Taieb A, de Verneuil H, Benchiki H, Grandchamp B, Sarasin A.

J Invest Dermatol. 2010 Jun;130(6):1537-42. doi: 10.1038/jid.2009.409. Epub 2010 Jan 7.

34.

Hypoxia-inducible factor-1alpha regulates the expression of nucleotide excision repair proteins in keratinocytes.

Rezvani HR, Mahfouf W, Ali N, Chemin C, Ged C, Kim AL, de Verneuil H, Taïeb A, Bickers DR, Mazurier F.

Nucleic Acids Res. 2010 Jan;38(3):797-809. doi: 10.1093/nar/gkp1072. Epub 2009 Nov 24.

35.

Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype.

Ged C, Moreau-Gaudry F, Richard E, Robert-Richard E, de Verneuil H.

Cell Mol Biol (Noisy-le-grand). 2009 Feb 16;55(1):53-60. Review.

PMID:
19268002
36.

[Successful gene therapy of mice with congenital erythropoietic porphyria].

de Verneuil H, Robert-Richard E, Ged C, Mazurier F, Richard E, Moreau-Gaudry F.

Med Sci (Paris). 2008 Jun-Jul;24(6-7):615-20. doi: 10.1051/medsci/20082467615. French.

37.

Erythropoietic porphyrias: animal models and update in gene-based therapies.

Richard E, Robert-Richard E, Ged C, Moreau-Gaudry F, de Verneuil H.

Curr Gene Ther. 2008 Jun;8(3):176-86. Review.

PMID:
18537592
38.

Catalase overexpression reduces UVB-induced apoptosis in a human xeroderma pigmentosum reconstructed epidermis.

Rezvani HR, Ged C, Bouadjar B, de Verneuil H, Taïeb A.

Cancer Gene Ther. 2008 Apr;15(4):241-51. doi: 10.1038/sj.cgt.7701102. Epub 2008 Jan 18.

PMID:
18202716
39.

Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cells.

Robert-Richard E, Moreau-Gaudry F, Lalanne M, Lamrissi-Garcia I, Cario-André M, Guyonnet-Dupérat V, Taine L, Ged C, de Verneuil H.

Am J Hum Genet. 2008 Jan;82(1):113-24. doi: 10.1016/j.ajhg.2007.09.007.

40.

Analysis of SPINK 5, KLK 7 and FLG genotypes in a French atopic dermatitis cohort.

Hubiche T, Ged C, Benard A, Léauté-Labrèze C, McElreavey K, de Verneuil H, Taïeb A, Boralevi F.

Acta Derm Venereol. 2007;87(6):499-505.

41.

Murine retroviral but not human cellular promoters induce in vivo erythroid-specific deregulation that can be partially prevented by insulators.

Robert-Richard E, Richard E, Malik P, Ged C, de Verneuil H, Moreau-Gaudry F.

Mol Ther. 2007 Jan;15(1):173-82.

42.

Protection of normal human reconstructed epidermis from UV by catalase overexpression.

Rezvani HR, Cario-André M, Pain C, Ged C, deVerneuil H, Taïeb A.

Cancer Gene Ther. 2007 Feb;14(2):174-86. Epub 2006 Oct 20.

PMID:
17053817
43.

Human cell engraftment after busulfan or irradiation conditioning of NOD/SCID mice.

Robert-Richard E, Ged C, Ortet J, Santarelli X, Lamrissi-Garcia I, de Verneuil H, Mazurier F.

Haematologica. 2006 Oct;91(10):1384.

44.

Protective effects of catalase overexpression on UVB-induced apoptosis in normal human keratinocytes.

Rezvani HR, Mazurier F, Cario-André M, Pain C, Ged C, Taïeb A, de Verneuil H.

J Biol Chem. 2006 Jun 30;281(26):17999-8007. Epub 2006 Apr 27.

45.

A knock-in mouse model of congenital erythropoietic porphyria.

Ged C, Mendez M, Robert E, Lalanne M, Lamrissi-Garcia I, Costet P, Daniel JY, Dubus P, Mazurier F, Moreau-Gaudry F, de Verneuil H.

Genomics. 2006 Jan;87(1):84-92. Epub 2005 Nov 28.

46.

Case report of a patient with non-alcoholic fatty liver disease, moderate iron overload who is homozygous for the S65C mutation in the HFE1 gene.

Bernard PH, Ged C, Faivre E, Legac G, Bioulac-Sage P, Cassaigne A, de Verneuil H.

Eur J Med Genet. 2005 Apr-Jun;48(2):195-8. Epub 2005 Feb 12. No abstract available.

PMID:
16053912
47.

Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease).

Dupuis-Girod S, Akkari V, Ged C, Galambrun C, Kebaïli K, Deybach JC, Claudy A, Geburher L, Philippe N, de Verneuil H, Bertrand Y.

Eur J Pediatr. 2005 Feb;164(2):104-7. Epub 2004 Nov 20.

PMID:
15703981
48.

Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling.

Ged C, Mégarbané H, Chouery E, Lalanne M, Mégarbané A, de Verneuil H.

J Invest Dermatol. 2004 Sep;123(3):589-91.

49.

Hematopoietic stem cell gene therapy of murine protoporphyria by methylguanine-DNA-methyltransferase-mediated in vivo drug selection.

Richard E, Robert E, Cario-André M, Ged C, Géronimi F, Gerson SL, de Verneuil H, Moreau-Gaudry F.

Gene Ther. 2004 Nov;11(22):1638-47.

PMID:
15284838
50.

A bicistronic SIN-lentiviral vector containing G156A MGMT allows selection and metabolic correction of hematopoietic protoporphyric cell lines.

Richard E, Géronimi F, Lalanne M, Ged C, Redonnet-Vernhet I, Lamrissi-Garcia I, Gerson SL, de Verneuil H, Moreau-Gaudry F.

J Gene Med. 2003 Sep;5(9):737-47.

PMID:
12950064

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