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Items: 1 to 20 of 109

1.

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
2.

[PTCH2 gene alterations in keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome].

Xu LL, Li TJ.

Beijing Da Xue Xue Bao Yi Xue Ban. 2008 Feb 18;40(1):15-8. Chinese.

3.

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.

4.

PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.

Guo YY, Zhang JY, Li XF, Luo HY, Chen F, Li TJ.

PLoS One. 2013 Oct 21;8(10):e77305. doi: 10.1371/journal.pone.0077305. eCollection 2013. Review.

5.

A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family.

Fan Z, Li J, Du J, Zhang H, Shen Y, Wang CY, Wang S.

J Med Genet. 2008 May;45(5):303-8. doi: 10.1136/jmg.2007.055343. Epub 2008 Feb 19.

PMID:
18285427
6.

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.

7.

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.

8.

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.

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
10.

[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.

11.

Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.

Pastorino L, Cusano R, Nasti S, Faravelli F, Forzano F, Baldo C, Barile M, Gliori S, Muggianu M, Ghigliotti G, Lacaita MG, Lo Muzio L, Bianchi-Scarra G.

Hum Mutat. 2005 Mar;25(3):322-3.

PMID:
15712338
12.

Heterozygous tandem duplication within the PTCH1 gene results in nevoid basal cell carcinoma syndrome.

Kosaki R, Nagao K, Kameyama K, Suzuki M, Fujii K, Miyashita T.

Am J Med Genet A. 2012 Jul;158A(7):1724-8. doi: 10.1002/ajmg.a.35412.

PMID:
22711650
13.

[Studies on keratocystic odontogenic tumors].

Li TJ, Sun LS, Luo HY, Yuan JW, Gao L, Gu XM, Li XF, Xu LL.

Beijing Da Xue Xue Bao Yi Xue Ban. 2009 Feb 18;41(1):16-20. Chinese.

14.

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
15.

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
16.

Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles.

Savino M, d'Apolito M, Formica V, Baorda F, Mari F, Renieri A, Carabba E, Tarantino E, Andreucci E, Belli S, Lo Muzio L, Dallapiccola B, Zelante L, Savoia A.

Hum Mutat. 2004 Nov;24(5):441.

PMID:
15459969
17.

The large intracellular loop of ptch1 mediates the non-canonical Hedgehog pathway through cyclin B1 in nevoid basal cell carcinoma syndrome.

Yu FY, Hong YY, Qu JF, Chen F, Li TJ.

Int J Mol Med. 2014 Aug;34(2):507-12. doi: 10.3892/ijmm.2014.1783. Epub 2014 May 16.

PMID:
24840883
18.

A novel mutation of the PTCH1 gene activates the Shh/Gli signaling pathway in a Chinese family with nevoid basal cell carcinoma syndrome.

Zhang T, Chen M, Lü Y, Xing Q, Chen W.

Biochem Biophys Res Commun. 2011 Jun 3;409(2):166-70. doi: 10.1016/j.bbrc.2011.04.047. Epub 2011 Apr 13.

PMID:
21514272
19.

Mutations in the human homologue of Drosophila patched (PTCH) in basal cell carcinomas and the Gorlin syndrome: different in vivo mechanisms of PTCH inactivation.

Unden AB, Holmberg E, Lundh-Rozell B, Stähle-Bäckdahl M, Zaphiropoulos PG, Toftgård R, Vorechovsky I.

Cancer Res. 1996 Oct 15;56(20):4562-5.

20.

Myogenic tumors in nevoid Basal cell carcinoma syndrome.

Hettmer S, Teot LA, Kozakewich H, Werger AM, Davies KJ, Fletcher CD, Grier HE, Rodriguez-Galindo C, Wagers AJ.

J Pediatr Hematol Oncol. 2015 Mar;37(2):147-9. doi: 10.1097/MPH.0000000000000115.

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