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Page 1
Orofacial Anomalies in Kindler Epidermolysis Bullosa.
Krämer S, Hillebrecht AL, Wang Y, Badea MA, Barrios JI, Danescu S, Fuentes I, Kartal D, Klausegger A, Ponce de León E, Schilke R, Yordanova I, Bloch-Zupan A, Has C. Krämer S, et al. Among authors: fuentes i. JAMA Dermatol. 2024 May 1;160(5):544-549. doi: 10.1001/jamadermatol.2024.0065. JAMA Dermatol. 2024. PMID: 38506824
Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy.
Schwieger-Briel A, Fuentes I, Castiglia D, Barbato A, Greutmann M, Leppert J, Duchatelet S, Hovnanian A, Burattini S, Yubero MJ, Ibañez-Arenas R, Rebolledo-Jaramillo B, Gräni C, Ott H, Theiler M, Weibel L, Paller AS, Zambruno G, Fischer J, Palisson F, Has C. Schwieger-Briel A, et al. Among authors: fuentes i. J Invest Dermatol. 2019 Jan;139(1):244-249. doi: 10.1016/j.jid.2018.07.022. Epub 2018 Aug 16. J Invest Dermatol. 2019. PMID: 30120936 Free article. No abstract available.
APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa.
Cho RJ, Alexandrov LB, den Breems NY, Atanasova VS, Farshchian M, Purdom E, Nguyen TN, Coarfa C, Rajapakshe K, Prisco M, Sahu J, Tassone P, Greenawalt EJ, Collisson EA, Wu W, Yao H, Su X, Guttmann-Gruber C, Hofbauer JP, Hashmi R, Fuentes I, Benz SC, Golovato J, Ehli EA, Davis CM, Davies GE, Covington KR, Murrell DF, Salas-Alanis JC, Palisson F, Bruckner AL, Robinson W, Has C, Bruckner-Tuderman L, Titeux M, Jonkman MF, Rashidghamat E, Lwin SM, Mellerio JE, McGrath JA, Bauer JW, Hovnanian A, Tsai KY, South AP. Cho RJ, et al. Among authors: fuentes i. Sci Transl Med. 2018 Aug 22;10(455):eaas9668. doi: 10.1126/scitranslmed.aas9668. Sci Transl Med. 2018. PMID: 30135250
Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa-Associated Squamous Cell Carcinoma.
Atanasova VS, Pourreyron C, Farshchian M, Lawler M, Brown CA 4th, Watt SA, Wright S, Warkala M, Guttmann-Gruber C, Hofbauer JP, Fuentes I, Prisco M, Rashidghamat E, Has C, Salas-Alanis JC, Palisson F, Hovnanian A, McGrath JA, Mellerio JE, Bauer JW, South AP. Atanasova VS, et al. Among authors: fuentes i. Clin Cancer Res. 2019 Jun 1;25(11):3384-3391. doi: 10.1158/1078-0432.CCR-18-2661. Epub 2019 Mar 7. Clin Cancer Res. 2019. PMID: 30846478 Free PMC article.
Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa.
Has C, Liu L, Bolling MC, Charlesworth AV, El Hachem M, Escámez MJ, Fuentes I, Büchel S, Hiremagalore R, Pohla-Gubo G, van den Akker PC, Wertheim-Tysarowska K, Zambruno G. Has C, et al. Among authors: fuentes i. Br J Dermatol. 2020 Mar;182(3):574-592. doi: 10.1111/bjd.18128. Epub 2019 Aug 9. Br J Dermatol. 2020. PMID: 31090061 Free PMC article.
Absence of tongue papillae as a clinical criterion for the diagnosis of generalized recessive dystrophic epidermolysis bullosa types.
Krämer S, Fuentes I, Yubero MJ, Encina C, Farfán J, Araya I, Castillo Bennett J, Fuentes C, McNab ME, Zillmann G, Valle M, Lucky AW, Palisson F. Krämer S, et al. Among authors: fuentes c, fuentes i. J Am Acad Dermatol. 2020 Dec;83(6):1815-1816. doi: 10.1016/j.jaad.2020.03.117. Epub 2020 Apr 12. J Am Acad Dermatol. 2020. PMID: 32294513 No abstract available.
248 results