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Items: 1 to 20 of 195

1.

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.

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.

Manifestations of Gorlin-Goltz syndrome.

Larsen AK, Mikkelsen DB, Hertz JM, Bygum A.

Dan Med J. 2014 May;61(5):A4829.

PMID:
24814739
4.

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
5.

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.

6.

Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.

Kimonis VE, Mehta SG, Digiovanna JJ, Bale SJ, Pastakia B.

Genet Med. 2004 Nov-Dec;6(6):495-502.

PMID:
15545745
7.

[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.

8.

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.

9.

Skeletal stigmata as keys to access to the composite and ancient Gorlin-Goltz syndrome history: The Egypt, Pompeii and Herculaneum lessons.

Ponti G, Pellacani G, Tomasi A, Sammaria G, Manfredini M.

Gene. 2016 Sep 10;589(2):104-11. doi: 10.1016/j.gene.2016.01.012. Epub 2016 Jan 12. Review.

PMID:
26794802
10.

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
11.

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
12.

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
13.

Odontogenic keratocysts in the Basal Cell Nevus (Gorlin-Goltz) Syndrome associated with paresthesia of the lower jaw: Case report, retrospective analysis of a representative Czech cohort and recommendations for the early diagnosis.

Hubacek M, Kripnerova T, Nemcikova M, Krepelová A, Puchmajerova A, Malikova M, Havlovicová M, Cadova J, Kodet R, Macek M Jr, Dostalova T.

Neuro Endocrinol Lett. 2016 Sep;37(4):269-276.

PMID:
27857042
14.

A novel PTCH1 gene mutation in a pediatric patient associated multiple keratocystic odontogenic tumors of the jaws and Gorlin-Goltz syndrome.

Ozcan G, Balta B, Sekerci AE, Etoz OA, Martinuzzi C, Kara O, Pastorino L, Kocoglu F, Ulker O, Erdogan M.

Indian J Pathol Microbiol. 2016 Jul-Sep;59(3):335-8. doi: 10.4103/0377-4929.188148.

15.

Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals.

Lo Muzio L, Nocini PF, Savoia A, Consolo U, Procaccini M, Zelante L, Pannone G, Bucci P, Dolci M, Bambini F, Solda P, Favia G.

Clin Genet. 1999 Jan;55(1):34-40.

PMID:
10066029
16.

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.

17.

Wall paintings facies and their possible genetic correlates in the ancient Pompeii: A bio-anthropologic message from the past?

Ponti G, Manfredini M, Ruini C.

Gene. 2016 Sep 10;589(2):151-6. doi: 10.1016/j.gene.2016.04.038. Epub 2016 Apr 20. Review.

PMID:
27107679
18.

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
19.

[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
20.

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

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