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Items: 1 to 20 of 142

1.

Keratinocytic epidermal nevi are associated with mosaic RAS mutations.

Hafner C, Toll A, Gantner S, Mauerer A, Lurkin I, Acquadro F, Fernández-Casado A, Zwarthoff EC, Dietmaier W, Baselga E, Parera E, Vicente A, Casanova A, Cigudosa J, Mentzel T, Pujol RM, Landthaler M, Real FX.

J Med Genet. 2012 Apr;49(4):249-53. doi: 10.1136/jmedgenet-2011-100637.

PMID:
22499344
2.

Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi.

Hafner C, van Oers JM, Vogt T, Landthaler M, Stoehr R, Blaszyk H, Hofstaedter F, Zwarthoff EC, Hartmann A.

J Clin Invest. 2006 Aug;116(8):2201-2207.

3.

Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation.

Bygum A, Fagerberg CR, Clemmensen OJ, Fiebig B, Hafner C.

BMC Med Genet. 2011 Jun 5;12:79. doi: 10.1186/1471-2350-12-79.

4.

Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.

Groesser L, Herschberger E, Ruetten A, Ruivenkamp C, Lopriore E, Zutt M, Langmann T, Singer S, Klingseisen L, Schneider-Brachert W, Toll A, Real FX, Landthaler M, Hafner C.

Nat Genet. 2012 Jun 10;44(7):783-7. doi: 10.1038/ng.2316.

PMID:
22683711
5.

FGFR3, PIK3CA and RAS mutations in benign lichenoid keratosis.

Groesser L, Herschberger E, Landthaler M, Hafner C.

Br J Dermatol. 2012 Apr;166(4):784-8. doi: 10.1111/j.1365-2133.2011.10788.x. Epub 2012 Mar 14.

PMID:
22188534
6.

Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern.

Hafner C, López-Knowles E, Luis NM, Toll A, Baselga E, Fernández-Casado A, Hernández S, Ribé A, Mentzel T, Stoehr R, Hofstaedter F, Landthaler M, Vogt T, Pujol RM, Hartmann A, Real FX.

Proc Natl Acad Sci U S A. 2007 Aug 14;104(33):13450-4. Epub 2007 Aug 2.

7.

Postzygotic HRAS mutation causing both keratinocytic epidermal nevus and thymoma and associated with bone dysplasia and hypophosphatemia due to elevated FGF23.

Avitan-Hersh E, Tatur S, Indelman M, Gepstein V, Shreter R, Hershkovitz D, Brick R, Bergman R, Tiosano D.

J Clin Endocrinol Metab. 2014 Jan;99(1):E132-6. doi: 10.1210/jc.2013-2813. Epub 2013 Dec 20.

PMID:
24243633
8.

Genetic and clinical mosaicism in a type of epidermal nevus.

Paller AS, Syder AJ, Chan YM, Yu QC, Hutton E, Tadini G, Fuchs E.

N Engl J Med. 1994 Nov 24;331(21):1408-15.

9.

Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell.

Groesser L, Herschberger E, Sagrera A, Shwayder T, Flux K, Ehmann L, Wollenberg A, Torrelo A, Bagazgoitia L, Diaz-Ley B, Tinschert S, Oschlies I, Singer S, Mickler M, Toll A, Landthaler M, Real FX, Hafner C.

J Invest Dermatol. 2013 Aug;133(8):1998-2003. doi: 10.1038/jid.2013.24. Epub 2013 Jan 21.

10.

[Genetic basis of seborrheic keratosis and epidermal nevi].

Hafner C, Hafner H, Groesser L.

Pathologe. 2014 Sep;35(5):413-23. doi: 10.1007/s00292-014-1928-9. Review. German.

PMID:
25187080
11.

Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

Sol-Church K, Stabley DL, Demmer LA, Agbulos A, Lin AE, Smoot L, Nicholson L, Gripp KW.

Am J Med Genet A. 2009 Mar;149A(3):315-21. doi: 10.1002/ajmg.a.32639.

12.

An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation.

García-Vargas A, Hafner C, Pérez-Rodríguez AG, Rodríguez-Rojas LX, González-Esqueda P, Stoehr R, Hernández-Torres M, Happle R.

Am J Med Genet A. 2008 Sep 1;146A(17):2275-9. doi: 10.1002/ajmg.a.32429.

PMID:
18642369
13.

Low prevalence of RAS-RAF-activating mutations in Spitz melanocytic nevi compared with other melanocytic lesions.

Indsto JO, Kumar S, Wang L, Crotty KA, Arbuckle SM, Mann GJ.

J Cutan Pathol. 2007 Jun;34(6):448-55.

PMID:
17518771
14.

Analysis of mutations in B-RAF, N-RAS, and H-RAS genes in the differential diagnosis of Spitz nevus and spitzoid melanoma.

van Dijk MC, Bernsen MR, Ruiter DJ.

Am J Surg Pathol. 2005 Sep;29(9):1145-51.

PMID:
16096402
15.

Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma.

Bourdeaut F, Hérault A, Gentien D, Pierron G, Ballet S, Reynaud S, Paris R, Schleiermacher G, Baumann C, Philippe-Chomette P, Gauthier-Villars M, Peuchmaur M, Radvanyi F, Delattre O.

J Med Genet. 2010 Dec;47(12):859-62. doi: 10.1136/jmg.2009.075374. Epub 2010 Aug 30.

PMID:
20805368
16.

HRAS mutations in bladder cancer at an early age and the possible association with the Costello Syndrome.

Beukers W, Hercegovac A, Zwarthoff EC.

Eur J Hum Genet. 2014 Jun;22(6):837-9. doi: 10.1038/ejhg.2013.251. Epub 2013 Oct 30.

17.

Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation.

Girisha KM, Lewis LE, Phadke SR, Kutsche K.

Am J Med Genet A. 2010 Nov;152A(11):2861-4. doi: 10.1002/ajmg.a.33687.

PMID:
20979192
18.

Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans.

Logié A, Dunois-Lardé C, Rosty C, Levrel O, Blanche M, Ribeiro A, Gasc JM, Jorcano J, Werner S, Sastre-Garau X, Thiery JP, Radvanyi F.

Hum Mol Genet. 2005 May 1;14(9):1153-60. Epub 2005 Mar 16.

19.

Clonality of basal cell carcinoma arising in an epidermal nevus. New insights provided by molecular analysis.

Hafner C, Klein A, Landthaler M, Vogt T.

Dermatology. 2009;218(3):278-81. doi: 10.1159/000189209. Epub 2008 Dec 22.

PMID:
19122450
20.

Activating mutations in the RAS/mitogen-activated protein kinase signaling pathway in sporadic trichoblastoma and syringocystadenoma papilliferum.

Shen AS, Peterhof E, Kind P, Rütten A, Zelger B, Landthaler M, Berneburg M, Hafner C, Groesser L.

Hum Pathol. 2015 Feb;46(2):272-6. doi: 10.1016/j.humpath.2014.11.002. Epub 2014 Nov 15.

PMID:
25532942
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