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SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.
Morice-Picard F, Lasseaux E, François S, Simon D, Rooryck C, Bieth E, Colin E, Bonneau D, Journel H, Walraedt S, Leroy BP, Meire F, Lacombe D, Arveiler B. Morice-Picard F, et al. Among authors: simon d. J Invest Dermatol. 2014 Feb;134(2):568-571. doi: 10.1038/jid.2013.360. Epub 2013 Aug 28. J Invest Dermatol. 2014. PMID: 23985994 Free article. No abstract available.
High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.
Morice-Picard F, Lasseaux E, Cailley D, Gros A, Toutain J, Plaisant C, Simon D, François S, Gilbert-Dussardier B, Kaplan J, Rooryck C, Lacombe D, Arveiler B. Morice-Picard F, et al. Among authors: simon d. Pigment Cell Melanoma Res. 2014 Jan;27(1):59-71. doi: 10.1111/pcmr.12173. Epub 2013 Oct 23. Pigment Cell Melanoma Res. 2014. PMID: 24118800 Clinical Trial.
A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia.
Simon D, Laloo B, Barillot M, Barnetche T, Blanchard C, Rooryck C, Marche M, Burgelin I, Coupry I, Chassaing N, Gilbert-Dussardier B, Lacombe D, Grosset C, Arveiler B. Simon D, et al. Hum Mol Genet. 2010 May 15;19(10):2015-27. doi: 10.1093/hmg/ddq083. Epub 2010 Feb 24. Hum Mol Genet. 2010. PMID: 20181727
Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients.
Stef M, Simon D, Mardirossian B, Delrue MA, Burgelin I, Hubert C, Marche M, Bonnet F, Gorry P, Longy M, Lacombe D, Coupry I, Arveiler B. Stef M, et al. Among authors: simon d. Eur J Hum Genet. 2007 Aug;15(8):843-7. doi: 10.1038/sj.ejhg.5201847. Epub 2007 May 2. Eur J Hum Genet. 2007. PMID: 17473832
Unveiling metabolic similarities of entheses in psoriasis and psoriatic arthritis patients using non-invasive in vivo imaging - results from the MAPSA study.
Fagni F, Tascilar K, Noversa de Sousa R, Bayat S, Sollfrank L, Kleyer A, Sticherling M, Regensburger AP, Knieling F, Neurath MF, Schett G, Waldner M, Simon D. Fagni F, et al. Among authors: simon d. Arthritis Rheumatol. 2024 May 15. doi: 10.1002/art.42917. Online ahead of print. Arthritis Rheumatol. 2024. PMID: 38751108
Italian S3-Guideline on the treatment of atopic eczema - First Update, adapted from EuroGuiDerm by the Italian Society of Dermatology and STD (SIDEMAST), the Italian Association of Hospital Dermatologists (ADOI) and the Italian Society of Allergological and Occupational Dermatology (SIDAPA).
Argenziano G, Cusano F, Corazza M, Amato S, Amerio P, Naldi L, Patruno C, Pigatto PD, Quaglino P, Gisondi P, Chiricozzi A, Tonon F, Stingeni L, Calzavara-Pinton P, Wollenberg A, Kinberger M, Arents BW, Aszodi N, Avila Valle GL, Barbarot S, Bieber T, Brough HA, Christen-Zäch S, Deleuran M, Dittmann M, Dressler C, Fink-Wagner AH, Fosse N, Gáspár K, Gerbens LA, Gieler U, Girolomoni G, Gregoriou S, Mortz CG, Nast A, Nygaard U, Redding M, Rehbinder EM, Ring J, Rossi M, Serra-Baldrich E, Simon D, Szalai ZZ, Szepietowski JC, Torrelo A, Werfel T, Flohr C. Argenziano G, et al. Among authors: simon d. Ital J Dermatol Venerol. 2024 May 10. doi: 10.23736/S2784-8671.24.07667-9. Online ahead of print. Ital J Dermatol Venerol. 2024. PMID: 38727635 Free article.
2,504 results