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Items: 1 to 20 of 297

1.

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.

2.

[Nevoid basal cell carcinoma syndrome with corpus callosum agenesis, PTCH1 mutation and absence of basal cell carcinoma].

Mazzuoccolo LD, Martínez MF, Muchnik C, Azurmendi PJ, Stengel F.

Medicina (B Aires). 2014;74(4):307-10. Spanish.

3.

A Novel PTCH1 Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome.

Durmaz CD, Evans G, Smith MJ, Ertop P, Akay BN, Tuncalı T.

Cytogenet Genome Res. 2018;154(2):57-61. doi: 10.1159/000487747. Epub 2018 Mar 16.

PMID:
29544218
4.

Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.

Fujii K, Ohashi H, Suzuki M, Hatsuse H, Shiohama T, Uchikawa H, Miyashita T.

Fam Cancer. 2013 Dec;12(4):611-4. doi: 10.1007/s10689-013-9623-1.

PMID:
23479190
5.

Two cases of nevoid basal cell carcinoma syndrome associated with meningioma caused by a PTCH1 or SUFU germline mutation.

Kijima C, Miyashita T, Suzuki M, Oka H, Fujii K.

Fam Cancer. 2012 Dec;11(4):565-70. doi: 10.1007/s10689-012-9548-0.

PMID:
22829011
6.

[Skeletal and dermatological manifestations of the nevoid Basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Results of 8 patients in 12 years].

Rupprecht M, Mensing CH, Barvencik F, Ittrich H, Heiland M, Rueger JM, Amling M, Pogoda P.

Rofo. 2007 Jun;179(6):618-26. Epub 2007 May 9. Review. German.

PMID:
17492539
7.

PTCH1 and SMO gene alterations in keratocystic odontogenic tumors.

Sun LS, Li XF, Li TJ.

J Dent Res. 2008 Jun;87(6):575-9.

PMID:
18502968
9.

Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome.

Pastorino L, Pollio A, Pellacani G, Guarneri C, Ghiorzo P, Longo C, Bruno W, Giusti F, Bassoli S, Bianchi-Scarrà G, Ruini C, Seidenari S, Tomasi A, Ponti G.

PLoS One. 2012;7(8):e43827. doi: 10.1371/journal.pone.0043827. Epub 2012 Aug 27.

10.

Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.

Garavelli L, Piemontese MR, Cavazza A, Rosato S, Wischmeijer A, Gelmini C, Albertini E, Albertini G, Forzano F, Franchi F, Carella M, Zelante L, Superti-Furga A.

Am J Med Genet A. 2013 Nov;161A(11):2894-901. doi: 10.1002/ajmg.a.36259. Epub 2013 Oct 7.

PMID:
24124115
11.

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.

12.

Multiple keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome having distinct PTCH1 mutations: a case report.

Sasaki R, Miyashita T, Matsumoto N, Fujii K, Saito K, Ando T.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2010 Aug;110(2):e41-6. doi: 10.1016/j.tripleo.2010.04.006.

PMID:
20659694
13.

Ameloblastoma associated with the nevoid basal cell carcinoma (Gorlin) syndrome.

Eslami B, Lorente C, Kieff D, Caruso PA, Faquin WC.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008 Jun;105(6):e10-3. doi: 10.1016/j.tripleo.2008.01.034. Epub 2008 Apr 16.

PMID:
18417377
14.

Novel patched 1 mutations in patients with nevoid basal cell carcinoma syndrome--case report.

Škodrić-Trifunović V, Stjepanović M, Savić Ž, Ilić M, Kavečan I, Jovanović Privrodski J, Spasovski V, Stojiljković M, Pavlović S.

Croat Med J. 2015 Feb;56(1):63-7.

15.

Ameloblastoma: a neglected criterion for nevoid basal cell carcinoma (Gorlin) syndrome.

Ponti G, Pastorino L, Pollio A, Nasti S, Pellacani G, Mignogna MD, Tomasi A, Del Forno C, Longo C, Bianchi-Scarrà G, Ficarra G, Seidenari S.

Fam Cancer. 2012 Sep;11(3):411-8. doi: 10.1007/s10689-012-9529-3.

PMID:
22565648
16.

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.

17.

Pediatric nevoid basal cell carcinoma syndrome.

Pilkington S, McKinley LH, Miller RA.

Cutis. 2017 Dec;100(6):423-426.

PMID:
29360891
18.

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
19.

[From gene to disease: basal cell naevus syndrome].

de Meij TG, Baars MJ, Gille JJ, Hack WW, Haasnoot K, van Hagen JM.

Ned Tijdschr Geneeskd. 2005 Jan 8;149(2):78-81. Review. Dutch.

PMID:
15688838
20.

Nevoid basal cell carcinoma syndrome (Gorlin syndrome).

Lo Muzio L.

Orphanet J Rare Dis. 2008 Nov 25;3:32. doi: 10.1186/1750-1172-3-32. Review.

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