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Items: 1 to 20 of 71

1.

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
2.

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.

3.

Vismodegib in patients with advanced basal cell carcinoma: Primary analysis of STEVIE, an international, open-label trial.

Basset-Séguin N, Hauschild A, Kunstfeld R, Grob J, Dréno B, Mortier L, Ascierto PA, Licitra L, Dutriaux C, Thomas L, Meyer N, Guillot B, Dummer R, Arenberger P, Fife K, Raimundo A, Dika E, Dimier N, Fittipaldo A, Xynos I, Hansson J.

Eur J Cancer. 2017 Nov;86:334-348. doi: 10.1016/j.ejca.2017.08.022. Epub 2017 Nov 5.

4.

Be vigilant for skin manifestations of inherited cancer syndromes.

Tidman AS.

Practitioner. 2017 Jan;261(1800):23-7.

PMID:
29023082
5.

Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype.

Onodera S, Saito A, Hasegawa D, Morita N, Watanabe K, Nomura T, Shibahara T, Ohba S, Yamaguchi A, Azuma T.

PLoS One. 2017 Sep 15;12(9):e0184702. doi: 10.1371/journal.pone.0184702. eCollection 2017.

6.

Lessons to be learned from type 1 segmental Gorlin syndrome.

Happle R.

Br J Dermatol. 2017 Jul;177(1):20-21. doi: 10.1111/bjd.15608. No abstract available.

PMID:
28731248
7.

Muckle-Wells syndrome in the setting of basal cell nevus syndrome.

Wagener M, Laskas JW, Purcell S, Ermolovich T.

Cutis. 2017 Jun;99(6):421-424.

PMID:
28686751
8.

Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome.

Foulkes WD, Kamihara J, Evans DGR, Brugières L, Bourdeaut F, Molenaar JJ, Walsh MF, Brodeur GM, Diller L.

Clin Cancer Res. 2017 Jun 15;23(12):e62-e67. doi: 10.1158/1078-0432.CCR-17-0595. Review.

PMID:
28620006
9.

First evidence of genotype-phenotype correlations in Gorlin syndrome.

Evans DG, Oudit D, Smith MJ, Rutkowski D, Allan E, Newman WG, Lear JT.

J Med Genet. 2017 Aug;54(8):530-536. doi: 10.1136/jmedgenet-2017-104669. Epub 2017 Jun 8.

PMID:
28596197
10.

Analysis of GLUT-1, GLUT-3, and angiogenic index in syndromic and non-syndromic keratocystic odontogenic tumors.

Leite RB, Cavalcante RB, Nogueira RLM, Souza LB, Pereira Pinto L, Nonaka CFW.

Braz Oral Res. 2017 Apr 27;31:e34. doi: 10.1590/1807-3107BOR-2017.vol31.0034.

11.

Brain morphology in children with nevoid basal cell carcinoma syndrome.

Shiohama T, Fujii K, Miyashita T, Mizuochi H, Uchikawa H, Shimojo N.

Am J Med Genet A. 2017 Apr;173(4):946-952. doi: 10.1002/ajmg.a.38115.

PMID:
28328116
12.

Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment.

Huq AJ, Bogwitz M, Gorelik A, Winship IM, White SM, Trainer AH.

Intern Med J. 2017 Jun;47(6):664-673. doi: 10.1111/imj.13429.

PMID:
28328109
13.

Inhibition of the hedgehog pathway in patients with basal-cell nevus syndrome: final results from the multicentre, randomised, double-blind, placebo-controlled, phase 2 trial.

Tang JY, Ally MS, Chanana AM, Mackay-Wiggan JM, Aszterbaum M, Lindgren JA, Ulerio G, Rezaee MR, Gildengorin G, Marji J, Clark C, Bickers DR, Epstein EH Jr.

Lancet Oncol. 2016 Dec;17(12):1720-1731. doi: 10.1016/S1470-2045(16)30566-6. Epub 2016 Nov 10.

PMID:
27838224
14.

Development of mediastinal lymphoma after radiotherapy for concurrent medulloblastoma and PNET in a patient with Gorlin syndrome.

Jiang T, Wang J, Wang Y, Li C.

World J Surg Oncol. 2016 Aug 12;14(1):215. doi: 10.1186/s12957-016-0967-5.

15.

Ingenol Mebutate Treatment in a Patient with Gorlin Syndrome.

Stieger M, Hunger RE.

Dermatology. 2016;232 Suppl 1:29-31. doi: 10.1159/000447394. Epub 2016 Aug 11.

16.

Mutiple keratocystic odontogenic tumors (KCOT) in a patient with Gorlin syndrome: a case report with late presentation and absence of skin manifestations.

Hashmi AA, Edhi MM, Faridi N, Hosein M, Khan M.

BMC Res Notes. 2016 Jul 22;9:357. doi: 10.1186/s13104-016-2166-4.

17.

SHH desmoplastic/nodular medulloblastoma and Gorlin syndrome in the setting of Down syndrome: case report, molecular profiling, and review of the literature.

Mangum R, Varga E, Boué DR, Capper D, Benesch M, Leonard J, Osorio DS, Pierson CR, Zumberge N, Sahm F, Schrimpf D, Pfister SM, Finlay JL.

Childs Nerv Syst. 2016 Dec;32(12):2439-2446. Epub 2016 Jul 21. Review.

PMID:
27444290
18.

AKT1 Activation is Obligatory for Spontaneous BCC Tumor Growth in a Murine Model that Mimics Some Features of Basal Cell Nevus Syndrome.

Kim AL, Back JH, Zhu Y, Tang X, Yardley NP, Kim KJ, Athar M, Bickers DR.

Cancer Prev Res (Phila). 2016 Oct;9(10):794-802. Epub 2016 Jul 7.

19.

Severe Rheumatoid Arthritis Developing in Conjunction with Gorlin Syndrome.

Scott JF, Bordeaux JS.

J Rheumatol. 2016 Jul;43(7):1447-9. doi: 10.3899/jrheum.160062. No abstract available.

PMID:
27371652
20.

Myelodysplastic Syndrome Occurring in a Patient with Gorlin Syndrome.

Mull JL, Madden LM, Bayliss SJ.

Pediatr Dermatol. 2016 Jul;33(4):e256-7. doi: 10.1111/pde.12880. Epub 2016 May 31.

PMID:
27241746

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