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Items: 1 to 20 of 138

1.

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.

2.

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
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.

New mutation of the patched homologue 1 gene in a Chinese family with naevoid basal cell carcinoma syndrome.

Wang W, Wang J, Li J, Mao L, Guo F, Zhang B.

Br J Oral Maxillofac Surg. 2009 Jul;47(5):366-9. doi: 10.1016/j.bjoms.2008.10.001. Epub 2008 Nov 12.

PMID:
19008023
5.

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.

6.

Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome.

Matsuzawa N, Nagao T, Shimozato K, Niikawa N, Yoshiura KI.

J Clin Pathol. 2006 Oct;59(10):1084-6.

7.

Basal cell nevus syndrome: clinical and genetic diagnosis.

García de Marcos JA, Dean-Ferrer A, Arroyo Rodríguez S, Calderón-Polanco J, Alamillos Granados FJ, Poblet E.

Oral Maxillofac Surg. 2009 Dec;13(4):225-30. doi: 10.1007/s10006-009-0169-1.

PMID:
19795138
8.

[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.

9.

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.

10.

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
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.

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
13.

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
14.

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
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.

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.

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
18.

Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.

Chidambaram A, Goldstein AM, Gailani MR, Gerrard B, Bale SJ, DiGiovanna JJ, Bale AE, Dean M.

Cancer Res. 1996 Oct 15;56(20):4599-601.

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.

PTCH gene mutations in odontogenic keratocysts.

Barreto DC, Gomez RS, Bale AE, Boson WL, De Marco L.

J Dent Res. 2000 Jun;79(6):1418-22.

PMID:
10890722

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