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Items: 1 to 20 of 143

1.

Early-onset acral basal cell carcinomas in Gorlin syndrome.

Torrelo A, Vicente A, Navarro L, Planaguma M, Bueno E, González-Sarmiento R, Hernández-Martín A, Noguera-Morel L, Requena L, Colmenero I, Parareda A, González-Enseñat MA, Happle R.

Br J Dermatol. 2014 Nov;171(5):1227-9. doi: 10.1111/bjd.13118. Epub 2014 Oct 1.

PMID:
24837096
2.

Novel mutation in the PTCH1 gene in a patient with Gorlin syndrome with prominent clinical features.

Valdivielso-Ramos M, Solera J, Mauleon C, Hernanz JM, Amiñoso C, Galiano S, De la Cueva P.

Clin Exp Dermatol. 2014 Apr;39(3):406-7. doi: 10.1111/ced.12291. No abstract available.

PMID:
24635088
3.

PTCH1 gene mutations in exon 17 and loss of heterozygosity on D9S180 microsatellite in sporadic and inherited human basal cell carcinomas.

Santos DC, Zaphiropoulos PG, Neto CF, Pimentel ER, Sanches JA Jr, Ruiz IR.

Int J Dermatol. 2011 Jul;50(7):838-43. doi: 10.1111/j.1365-4632.2010.04866.x.

PMID:
21699520
4.

Mechanisms of inactivation of PTCH1 gene in nevoid basal cell carcinoma syndrome: modification of the two-hit hypothesis.

Pan S, Dong Q, Sun LS, Li TJ.

Clin Cancer Res. 2010 Jan 15;16(2):442-50. doi: 10.1158/1078-0432.CCR-09-2574. Epub 2010 Jan 12.

5.

A novel PTCH1 mutation in a patient of nevoid basal cell carcinoma syndrome.

Honma M, Ohishi Y, Uehara J, Ibe M, Kinouchi M, Ishida-Yamamoto A, Iizuka H.

J Dermatol Sci. 2008 Apr;50(1):73-5. Epub 2007 Dec 18. No abstract available.

PMID:
18068337
6.

Basal cell carcinomas in mice overexpressing sonic hedgehog.

Oro AE, Higgins KM, Hu Z, Bonifas JM, Epstein EH Jr, Scott MP.

Science. 1997 May 2;276(5313):817-21.

7.

Features of basal cell carcinomas in basal cell nevus syndrome.

Tom WL, Hurley MY, Oliver DS, Shah MR, Bree AF.

Am J Med Genet A. 2011 Sep;155A(9):2098-104. doi: 10.1002/ajmg.a.34127. Epub 2011 Aug 10.

PMID:
21834051
8.

Proteomic analysis of PTCH1+/- fibroblast lysate and conditioned culture media isolated from the skin of healthy subjects and nevoid basal cell carcinoma syndrome patients.

Ponti G, Bertazzoni G, Pastorino L, Monari E, Cuoghi A, Bergamini S, Bellei E, Benassi L, Azzoni P, Petrachi T, Magnoni C, Pellacani G, Loschi P, Pollio A, Witkowski AM, Tomasi A.

Biomed Res Int. 2013;2013:794028. doi: 10.1155/2013/794028. Epub 2013 Dec 4.

9.

A novel germ-line mutation of PTCH1 gene in a Japanese family of nevoid basal cell carcinoma syndrome: are the palmoplantar pits associated with true basal cell carcinoma?

Otsubo S, Honma M, Asano K, Takahashi H, Iizuka H.

J Dermatol Sci. 2008 Aug;51(2):144-6. doi: 10.1016/j.jdermsci.2008.03.006. Epub 2008 Apr 23. No abstract available.

PMID:
18436435
10.

Basal Cell Carcinoma in Gorlin's Patients: a Matter of Fibroblasts-Led Protumoral Microenvironment?

Gache Y, Brellier F, Rouanet S, Al-Qaraghuli S, Goncalves-Maia M, Burty-Valin E, Barnay S, Scarzello S, Ruat M, Sevenet N, Avril MF, Magnaldo T.

PLoS One. 2015 Dec 22;10(12):e0145369. doi: 10.1371/journal.pone.0145369. eCollection 2015.

11.

The dermoscopy of Gorlin syndrome: pursuit of the pits revisited.

Jarrett R, Walker L, Bowling J.

Arch Dermatol. 2010 May;146(5):582. doi: 10.1001/archdermatol.2010.44. No abstract available.

PMID:
20479325
12.

PTCH1 +/- dermal fibroblasts isolated from healthy skin of Gorlin syndrome patients exhibit features of carcinoma associated fibroblasts.

Valin A, Barnay-Verdier S, Robert T, Ripoche H, Brellier F, Chevallier-Lagente O, Avril MF, Magnaldo T.

PLoS One. 2009;4(3):e4818. doi: 10.1371/journal.pone.0004818. Epub 2009 Mar 16.

13.

Novel PTCH1 Mutation in a Young Child With Gorlin Syndrome and Medulloblastoma.

Gloude NJ, Yoon JM, Crawford JR.

Pediatr Blood Cancer. 2016 Jun;63(6):1128-9. doi: 10.1002/pbc.25913. Epub 2016 Feb 3. No abstract available.

PMID:
26840755
14.

A novel missense mutation in the PTCH1 gene in a premature case of nevoid basal cell carcinoma syndrome.

Nakamura M, Tokura Y.

Eur J Dermatol. 2009 May-Jun;19(3):262-3. doi: 10.1684/ejd.2009.0627. Epub 2009 Feb 12. No abstract available.

PMID:
19213655
15.

Patched mutations and hairy skin patches: a new sign in Gorlin syndrome.

Wilson LC, Ajayi-Obe E, Bernhard B, Maas SM.

Am J Med Genet A. 2006 Dec 1;140(23):2625-30.

PMID:
16906569
16.

Multiple nevoid basal cell carcinoma syndrome associated with congenital orbital teratoma, caused by a PTCH1 frameshift mutation.

Rodrigues AL, Carvalho A, Cabral R, Carneiro V, Gilardi P, Duarte CP, Puente-Prieto J, Santos P, Mota-Vieira L.

Genet Mol Res. 2014 Jul 25;13(3):5654-63. doi: 10.4238/2014.July.25.21.

18.

Variable expression of naevoid basal cell carcinoma syndrome in a family with a novel mutation in the PTCH1 gene.

Alonso-González J, Gutiérrez-González E, Fernández-Redondo V, Vega-Gliemmo A, Toribio J.

Clin Exp Dermatol. 2012 Apr;37(3):311-3. doi: 10.1111/j.1365-2230.2011.04209.x. Epub 2011 Oct 18. No abstract available.

PMID:
22007994
19.

[PTCH1 gene analysis in 25 Japanese patients with Gorlin syndrome].

Endo M, Fujii K, Miyashita T, Uchikawa H, Tanabe R, Sugita K, Arai H, Kohno Y.

No To Hattatsu. 2009 Jul;41(4):259-63. Japanese.

PMID:
19618880
20.

Ultraviolet responses of Gorlin syndrome primary skin cells.

Brellier F, Valin A, Chevallier-Lagente O, Gorry P, Avril MF, Magnaldo T.

Br J Dermatol. 2008 Aug;159(2):445-52. doi: 10.1111/j.1365-2133.2008.08650.x. Epub 2008 May 28.

PMID:
18510667

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