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Items: 1 to 20 of 194

1.

Manifestations of Gorlin-Goltz syndrome.

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

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

PMID:
24814739
2.

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.

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.

[Patients with basal cell naevus syndrome should be offered an early multidisciplinary follow-up and treatment].

Bay C, Ousager LB, Jelsig AM.

Ugeskr Laeger. 2015 Jul 13;177(29). pii: V12140701. Review. Danish.

PMID:
26239960
5.

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
6.

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
7.

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
8.

Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.

Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, Bale AE, Bale SJ.

Am J Med Genet. 1997 Mar 31;69(3):299-308. Review.

PMID:
9096761
9.

[Gorlin-Goltz syndrome: review of the neuroradiological and maxillofacial features illustrated with two clinical cases].

Safronova MM, Arantes M, Lima I, Domingues S, Almeida M, Moniz P.

Acta Med Port. 2010 Nov-Dec;23(6):1119-26. Epub 2010 Dec 28. Portuguese.

10.

Subconjunctival epidermoid cysts in Gorlin-Goltz syndrome.

De Craene S, Batteauw A, Van Lint M, Claerhout I, Decock C.

Orbit. 2014 Aug;33(4):280-2. doi: 10.3109/01676830.2013.764445. Epub 2014 Apr 30.

PMID:
24785977
11.

[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.

12.

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
13.

Basal cell carcinoma of the eyelid associated with Gorlin-Goltz syndrome.

Honavar SG, Shields JA, Shields CL, Eagle RC Jr, Demirci H, Mahmood EZ.

Ophthalmology. 2001 Jun;108(6):1115-23.

PMID:
11382639
14.

An oral clinical approach to Gorlin-Goltz syndrome.

Abreu LG, Paiva SM, Pretti H, Bastos Lages EM, Castro WH.

Gen Dent. 2015 Mar-Apr;63(2):e9-e12.

PMID:
25734295
15.

Multiple basal cell carcinomas and keratocysts - the Gorlin and Goltz syndrome.

Gundlach KK, Kiehn M.

J Maxillofac Surg. 1979 Nov;7(4):299-307.

PMID:
292745
16.

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
17.

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.

18.

Genetic and clinicopathologic aspects of Gorlin-Goltz syndrome (NBCCS): presentation of two case reports and literature review.

Acocella A, Sacco R, Bertolai R, Sacco N.

Minerva Stomatol. 2009 Jan-Feb;58(1-2):43-53. Review. English, Italian.

PMID:
19234436
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.

Potential hot spot for de novo mutations in PTCH1 gene in Gorlin syndrome patients: a case report of twins from Croatia.

Musani V, Ozretić P, Trnski D, Sabol M, Poduje S, Tošić M, Šitum M, Levanat S.

Croat Med J. 2018 Feb 28;59(1):20-24.

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