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Items: 1 to 20 of 224

1.

[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.

2.

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.

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.

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
5.

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
6.

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
7.

Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome.

Le Brun Keris Y, Jouk PS, Saada-Sebag G, Roux JJ, Mattei B, Bagait L, Paoloni-Giacobino A, Grandchamp B, Soufir N, Lespinasse J.

Eur J Med Genet. 2008 Sep-Oct;51(5):472-8. doi: 10.1016/j.ejmg.2008.04.002. Epub 2008 May 2.

PMID:
18539553
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.

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.

11.

Intronic splicing mutations in PTCH1 cause Gorlin syndrome.

Bholah Z, Smith MJ, Byers HJ, Miles EK, Evans DG, Newman WG.

Fam Cancer. 2014 Sep;13(3):477-80. doi: 10.1007/s10689-014-9712-9.

PMID:
24659465
12.

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
13.

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.

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.

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
16.

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.

17.

Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory.

Klein RD, Dykas DJ, Bale AE.

Genet Med. 2005 Nov-Dec;7(9):611-9.

PMID:
16301862
18.

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
19.

Pediatric nevoid basal cell carcinoma syndrome.

Pilkington S, McKinley LH, Miller RA.

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

PMID:
29360891
20.

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.

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