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Items: 1 to 20 of 193

1.

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
2.

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
3.

Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma.

Slade I, Murray A, Hanks S, Kumar A, Walker L, Hargrave D, Douglas J, Stiller C, Izatt L, Rahman N.

Fam Cancer. 2011 Jun;10(2):337-42. doi: 10.1007/s10689-010-9411-0.

PMID:
21188540
4.

Identification of a SUFU germline mutation in a family with Gorlin syndrome.

Pastorino L, Ghiorzo P, Nasti S, Battistuzzi L, Cusano R, Marzocchi C, Garrè ML, Clementi M, Scarrà GB.

Am J Med Genet A. 2009 Jul;149A(7):1539-43. doi: 10.1002/ajmg.a.32944.

PMID:
19533801
5.

Novel PTCH1 Mutation in a Young Child With Gorlin Syndrome and Medulloblastoma.

Gloude NJ, Yoon JM, Crawford JR.

Pediatr Blood Cancer. 2016 Jun;63(6):1128-9. doi: 10.1002/pbc.25913. Epub 2016 Feb 3. No abstract available.

PMID:
26840755
6.

Two cases of nevoid basal cell carcinoma syndrome associated with meningioma caused by a PTCH1 or SUFU germline mutation.

Kijima C, Miyashita T, Suzuki M, Oka H, Fujii K.

Fam Cancer. 2012 Dec;11(4):565-70. doi: 10.1007/s10689-012-9548-0.

PMID:
22829011
7.

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
8.

[Identification of a Family with SUFU Germline Deletion Based on a Case of Desmoplastic Medulloblastoma in an Infant].

Šoukalová J, Vejmělková K, Cermanová T, Kašíková K, Mikulášová A, Janyšková H, Melichárková K, Pavelka Z, Ježová M, Pospíšilová Š, Kuglík P, Valášková I, Gaillyová R, Štěrba J, Zitterbart K.

Klin Onkol. 2016;29 Suppl 1:S83-8. Czech.

PMID:
26691947
9.

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.

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.

Retrospective family study of childhood medulloblastoma.

Ng D, Stavrou T, Liu L, Taylor MD, Gold B, Dean M, Kelley MJ, Dubovsky EC, Vezina G, Nicholson HS, Byrne J, Rutka JT, Hogg D, Reaman GH, Goldstein AM.

Am J Med Genet A. 2005 May 1;134(4):399-403. Erratum in: Am J Med Genet A. 2005 Jul 15;136(2):226.

PMID:
15759260
12.

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
13.

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
14.

[PTCH1 gene analysis in 25 Japanese patients with Gorlin syndrome].

Endo M, Fujii K, Miyashita T, Uchikawa H, Tanabe R, Sugita K, Arai H, Kohno Y.

No To Hattatsu. 2009 Jul;41(4):259-63. Japanese.

PMID:
19618880
15.

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.

16.

Gorlin syndrome and desmoplastic medulloblastoma: Report of 3 cases with unfavorable clinical course and novel mutations.

Gururangan S, Robinson G, Ellison DW, Wu G, He X, Lu QR, McLendon R, Grant G, Driscoll T, Neuberg R.

Pediatr Blood Cancer. 2015 Oct;62(10):1855-8. doi: 10.1002/pbc.25560. Epub 2015 May 4.

17.

Novel PTCH1 mutations in Japanese Nevoid basal cell carcinoma syndrome patients: two familial and three sporadic cases including the first Japanese patient with medulloblastoma.

Fujii M, Noguchi K, Urade M, Muraki Y, Moridera K, Kishimoto H, Hashimoto-Tamaoki T, Nakano Y.

J Hum Genet. 2011 Apr;56(4):277-83. doi: 10.1038/jhg.2011.2. Epub 2011 Mar 3.

PMID:
21368767
18.

Tumor suppressor gene co-operativity in compound Patched1 and suppressor of fused heterozygous mutant mice.

Svärd J, Rozell B, Toftgård R, Teglund S.

Mol Carcinog. 2009 May;48(5):408-19. doi: 10.1002/mc.20479.

19.

Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation.

Ragge NK, Salt A, Collin JR, Michalski A, Farndon PA.

Br J Ophthalmol. 2005 Aug;89(8):988-91.

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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