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Items: 1 to 20 of 111

1.

Molecular evidence of type 2 mosaicism in Gorlin syndrome.

Torrelo A, Hernández-Martín A, Bueno E, Colmenero I, Rivera I, Requena L, Happle R, González-Sarmiento R.

Br J Dermatol. 2013 Dec;169(6):1342-5. doi: 10.1111/bjd.12458.

PMID:
23746055
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.

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
4.

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
5.

Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.

Smith MJ, Beetz C, Williams SG, Bhaskar SS, O'Sullivan J, Anderson B, Daly SB, Urquhart JE, Bholah Z, Oudit D, Cheesman E, Kelsey A, McCabe MG, Newman WG, Evans DG.

J Clin Oncol. 2014 Dec 20;32(36):4155-61. doi: 10.1200/JCO.2014.58.2569. Epub 2014 Nov 17.

PMID:
25403219
6.

Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients.

Takahashi C, Kanazawa N, Yoshikawa Y, Yoshikawa R, Saitoh Y, Chiyo H, Tanizawa T, Hashimoto-Tamaoki T, Nakano Y.

J Hum Genet. 2009 Jul;54(7):403-8. doi: 10.1038/jhg.2009.55. Epub 2009 Jun 26.

PMID:
19557015
7.

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
8.

Spectrum of PTCH1 mutations in French patients with Gorlin syndrome.

Boutet N, Bignon YJ, Drouin-Garraud V, Sarda P, Longy M, Lacombe D, Gorry P.

J Invest Dermatol. 2003 Sep;121(3):478-81.

9.

PTCH germline mutations in Chinese nevoid basal cell carcinoma syndrome patients.

Li TJ, Yuan JW, Gu XM, Sun LS, Zhao HS.

Oral Dis. 2008 Mar;14(2):174-9. doi: 10.1111/j.1601-0825.2007.01369.x.

PMID:
18302678
10.

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
11.

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.

12.

Identification of a SUFU germline mutation in a family with Gorlin syndrome.

Pastorino L, Ghiorzo P, Nasti S, Battistuzzi L, Cusano R, Marzocchi C, Garrè ML, Clementi M, Scarrà GB.

Am J Med Genet A. 2009 Jul;149A(7):1539-43. doi: 10.1002/ajmg.a.32944.

PMID:
19533801
13.

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
14.

Skeletal and cranio-facial signs in Gorlin syndrome from ancient Egypt to the modern age: sphenoid asymmetry in a patient with a novel PTCH1 mutation.

Ponti G, Ruini C, Pastorino L, Loschi P, Pecchi A, Malagoli M, Mandel VD, Boano R, Conti A, Pellacani G, Tomasi A.

Future Oncol. 2014 May;10(6):917-25. doi: 10.2217/fon.14.2.

15.

[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
16.

Unicystic ameloblastoma associated with the novel K729M PTCH1 mutation in a patient with nevoid basal cell carcinoma (Gorlin) syndrome.

Ponti G, Pollio A, Mignogna MD, Pellacani G, Pastorino L, Bianchi-Scarrà G, Di Gregorio C, Magnoni C, Azzoni P, Greco M, Seidenari S.

Cancer Genet. 2012 Apr;205(4):177-81. doi: 10.1016/j.cancergen.2012.01.012.

PMID:
22559979
17.

An 8.9 year old girl with autism and Gorlin syndrome.

Delbroek H, Steyaert J, Legius E.

Eur J Paediatr Neurol. 2011 May;15(3):268-70. doi: 10.1016/j.ejpn.2010.12.001. Epub 2010 Dec 28.

PMID:
21190878
18.

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
19.

PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS).

Ponti G, Manfredini M, Pastorino L, Maccaferri M, Tomasi A, Pellacani G.

Anticancer Res. 2018 Jan;38(1):471-476.

PMID:
29277811
20.

[Gorlin syndrome in the paediatric age].

Roncalés-Samanes P, Peña-Segura JL, Fernando-Martínez R, Fuertes-Rodrigo C, García-Oguiza A, López-Pisón J.

Rev Neurol. 2014 Apr 1;58(7):303-7. Spanish.

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