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Folliculocystic and collagen hamartoma of tuberous sclerosis complex.
Torrelo A, Hadj-Rabia S, Colmenero I, Piston R, Sybert VP, Hilari-Carbonell H, Hernández-Martín A, Ferreres JC, Vañó-Galván S, Azorín D, de Salamanca JE, Requena L, Bodemer C, Happle R, García-Patos V, Fraitag S. Torrelo A, et al. Among authors: happle r. J Am Acad Dermatol. 2012 Apr;66(4):617-21. doi: 10.1016/j.jaad.2011.04.002. Epub 2011 Aug 12. J Am Acad Dermatol. 2012. PMID: 21839539
Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.
Bornholdt D, Atkinson TP, Bouadjar B, Catteau B, Cox H, De Silva D, Fischer J, Gunasekera CN, Hadj-Rabia S, Happle R, Holder-Espinasse M, Kaminski E, König A, Mégarbané A, Mégarbané H, Neidel U, Oeffner F, Oji V, Theos A, Traupe H, Vahlquist A, van Bon BW, Virtanen M, Grzeschik KH. Bornholdt D, et al. Among authors: happle r. Hum Mutat. 2013 Apr;34(4):587-94. doi: 10.1002/humu.22275. Epub 2013 Mar 8. Hum Mutat. 2013. PMID: 23316014
Large deletions in the NSDHL gene in two patients with CHILD syndrome.
Yang Z, Hartmann B, Xu Z, Ma L, Happle R, Schlipf N, Zhang LX, Xu ZG, Wang ZY, Fischer J. Yang Z, et al. Among authors: happle r. Acta Derm Venereol. 2015 Nov;95(8):1007-8. doi: 10.2340/00015555-2143. Acta Derm Venereol. 2015. PMID: 26014843 Free article. No abstract available.
Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis.
Thomas AC, Zeng Z, Rivière JB, O'Shaughnessy R, Al-Olabi L, St-Onge J, Atherton DJ, Aubert H, Bagazgoitia L, Barbarot S, Bourrat E, Chiaverini C, Chong WK, Duffourd Y, Glover M, Groesser L, Hadj-Rabia S, Hamm H, Happle R, Mushtaq I, Lacour JP, Waelchli R, Wobser M, Vabres P, Patton EE, Kinsler VA. Thomas AC, et al. Among authors: happle r. J Invest Dermatol. 2016 Apr;136(4):770-778. doi: 10.1016/j.jid.2015.11.027. Epub 2016 Jan 14. J Invest Dermatol. 2016. PMID: 26778290 Free PMC article.
683 results