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Page 1
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: hamm h. 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.
Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero-zygosity in Affected Skin.
Jägle S, Juratli HA, Hickman G, Süssmuth K, Boente MC, Kopp J, Kirchmeier P, Zimmer A, Happle R, Bourrat E, Hamm H, Fischer J. Jägle S, et al. Among authors: hamm h. Acta Derm Venereol. 2021 Feb 16;101(2):adv00397. doi: 10.2340/00015555-3753. Acta Derm Venereol. 2021. PMID: 33491095 Free PMC article.
Extensive red and blue patches in a young girl.
Wobser M, Goebeler M, Hamm H. Wobser M, et al. Among authors: hamm h. Klin Padiatr. 2013 Jan;225(1):46-7. doi: 10.1055/s-0032-1329946. Epub 2012 Nov 30. Klin Padiatr. 2013. PMID: 23203383 No abstract available.
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4.
Ballin N, Hotz A, Bourrat E, Küsel J, Oji V, Bouadjar B, Brognoli D, Hickman G, Heinz L, Vabres P, Marrakchi S, Leclerc-Mercier S, Irvine A, Tadini G, Hamm H, Has C, Blume-Peytavi U, Mitter D, Reitenbach M, Hausser I, Zimmer AD, Alter S, Fischer J. Ballin N, et al. Among authors: hamm h. Hum Mutat. 2019 Dec;40(12):2318-2333. doi: 10.1002/humu.23883. Epub 2019 Sep 6. Hum Mutat. 2019. PMID: 31347739
Multiple eruptive angiofibromas in a 14-year-old girl.
Karademir F, Rose C, Goebeler M, Kneitz H, Hamm H, Wobser M. Karademir F, et al. Among authors: hamm h. J Dtsch Dermatol Ges. 2016 Jul;14(7):746-748. doi: 10.1111/ddg.12901. J Dtsch Dermatol Ges. 2016. PMID: 27373259 No abstract available.
568 results