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Items: 1 to 20 of 91

1.

Mosaic activating RAS mutations in nevus sebaceus and nevus sebaceus syndrome.

Sun BK, Saggini A, Sarin KY, Kim J, Benjamin L, LeBoit PE, Khavari PA.

J Invest Dermatol. 2013 Mar;133(3):824-7. doi: 10.1038/jid.2012.377. Epub 2012 Oct 25. No abstract available.

2.

Nevus sebaceus is a mosaic RASopathy.

Happle R.

J Invest Dermatol. 2013 Mar;133(3):597-600. doi: 10.1038/jid.2012.447.

3.

Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus.

Levinsohn JL, Tian LC, Boyden LM, McNiff JM, Narayan D, Loring ES, Yun D, Sugarman JL, Overton JD, Mane SM, Lifton RP, Paller AS, Wagner AM, Antaya RJ, Choate KA.

J Invest Dermatol. 2013 Mar;133(3):827-30. doi: 10.1038/jid.2012.379. Epub 2012 Oct 25. No abstract available.

4.

[MAP-kinase pathway activation in nevus sebaceous and Schimmelpenning syndrome].

Dereure O.

Ann Dermatol Venereol. 2013 Apr;140(4):326-7. doi: 10.1016/j.annder.2013.02.009. Epub 2013 Mar 23. French. No abstract available.

PMID:
23567237
5.

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
6.

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
7.

KRAS G12D mosaic mutation in a Chinese linear nevus sebaceous syndrome infant.

Wang H, Qian Y, Wu B, Zhang P, Zhou W.

BMC Med Genet. 2015 Oct 31;16:101. doi: 10.1186/s12881-015-0247-1.

8.

Novel postzygotic KRAS mutation in a Japanese case of epidermal nevus syndrome presenting with two distinct clinical features, keratinocytic epidermal nevi and sebaceous nevi.

Igawa S, Honma M, Minami-Hori M, Tsuchida E, Iizuka H, Ishida-Yamamoto A.

J Dermatol. 2016 Jan;43(1):103-4. doi: 10.1111/1346-8138.13153. Epub 2015 Oct 26. No abstract available.

PMID:
26498739
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.

Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation.

Rijntjes-Jacobs EG, Lopriore E, Steggerda SJ, Kant SG, Walther FJ.

Am J Med Genet A. 2010 Nov;152A(11):2816-9. doi: 10.1002/ajmg.a.33635.

PMID:
20949522
11.

Autosomal dominant transmission of nevus sebaceous of Jadassohn.

West C, Narahari S, Kwatra S, Feldman S.

Dermatol Online J. 2012 Nov 15;18(11):17.

PMID:
23217958
12.

Keratinocytic epidermal nevus syndrome with Schwann cell proliferation, lipomatous tumour and mosaic KRAS mutation.

Farschtschi S, Mautner VF, Hollants S, Hagel C, Spaepen M, Schulte C, Legius E, Brems H.

BMC Med Genet. 2015 Feb 10;16:6. doi: 10.1186/s12881-015-0146-5.

13.

Activating Ras mutations in patients with plasma-cell disorders: a reappraisal.

Bezieau S, Avet-Loiseau H, Moisan JP, Bataille R.

Blood. 2002 Aug 1;100(3):1101-2; author reply 1103. No abstract available.

14.

Further evidence for a somatic KRAS mutation in a pilocytic astrocytoma.

Janzarik WG, Kratz CP, Loges NT, Olbrich H, Klein C, Schäfer T, Scheurlen W, Roggendorf W, Weiller C, Niemeyer C, Korinthenberg R, Pfister S, Omran H.

Neuropediatrics. 2007 Apr;38(2):61-3.

PMID:
17712732
15.

Somatic RAS mutations occur in a large proportion of sporadic RET-negative medullary thyroid carcinomas and extend to a previously unidentified exon.

Boichard A, Croux L, Al Ghuzlan A, Broutin S, Dupuy C, Leboulleux S, Schlumberger M, Bidart JM, Lacroix L.

J Clin Endocrinol Metab. 2012 Oct;97(10):E2031-5. doi: 10.1210/jc.2012-2092. Epub 2012 Aug 3.

16.

Naevus sebaceus: a mosaic RASopathy.

Aslam A, Salam A, Griffiths CE, McGrath JA.

Clin Exp Dermatol. 2014 Jan;39(1):1-6. doi: 10.1111/ced.12209. Review.

PMID:
24341474
17.

Ten cases of sebaceous carcinoma arising in nevus sebaceus.

Izumi M, Tang X, Chiu CS, Nagai T, Matsubayashi J, Iwaya K, Umemura S, Tsuboi R, Mukai K.

J Dermatol. 2008 Nov;35(11):704-11. doi: 10.1111/j.1346-8138.2008.00550.x.

PMID:
19120764
18.

Identification of somatic KRAS mutation in a Korean baby with nevus sebaceus syndrome.

Kim SW, Song JS, Kang MS, Sin JB, Ki CS, Jeon GW.

Ann Lab Med. 2015 Jan;35(1):178-80. doi: 10.3343/alm.2015.35.1.178. Epub 2014 Dec 8. No abstract available.

19.

The impact of TP53 and RAS mutations on cerebellar glioblastomas.

Milinkovic VP, Skender Gazibara MK, Manojlovic Gacic EM, Gazibara TM, Tanic NT.

Exp Mol Pathol. 2014 Oct;97(2):202-7. doi: 10.1016/j.yexmp.2014.07.009. Epub 2014 Jul 16.

PMID:
25036404
20.

KRAS and BRAF mutation status in patients with sporadic colorectal cancer: data from two different Mediterranean countries.

Symvoulakis EK, Zaravinos A, Zoras O, Spandidos DA.

Int J Biol Markers. 2011 Oct-Dec;26(4):276-7. doi: 10.5301/JBM.2011.8874. No abstract available.

PMID:
22139644

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