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Items: 1 to 20 of 103

1.

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
2.

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
3.

[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.

4.

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.

5.

[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
6.

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.

7.

Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene.

Kato C, Fujii K, Arai Y, Hatsuse H, Nagao K, Takayama Y, Kameyama K, Fujii K, Miyashita T.

Fam Cancer. 2017 Jan;16(1):131-138. doi: 10.1007/s10689-016-9924-2.

PMID:
27561271
8.

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
9.

Heterozygous tandem duplication within the PTCH1 gene results in nevoid basal cell carcinoma syndrome.

Kosaki R, Nagao K, Kameyama K, Suzuki M, Fujii K, Miyashita T.

Am J Med Genet A. 2012 Jul;158A(7):1724-8. doi: 10.1002/ajmg.a.35412.

PMID:
22711650
10.

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.

11.

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
12.

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
13.

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
14.

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
15.

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.

16.

PTCH mutations in sporadic and Gorlin-syndrome-related odontogenic keratocysts.

Gu XM, Zhao HS, Sun LS, Li TJ.

J Dent Res. 2006 Sep;85(9):859-63.

PMID:
16931872
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.

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.

19.

PTCH1 and SMO gene alterations in keratocystic odontogenic tumors.

Sun LS, Li XF, Li TJ.

J Dent Res. 2008 Jun;87(6):575-9.

PMID:
18502968
20.

Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.

Garavelli L, Piemontese MR, Cavazza A, Rosato S, Wischmeijer A, Gelmini C, Albertini E, Albertini G, Forzano F, Franchi F, Carella M, Zelante L, Superti-Furga A.

Am J Med Genet A. 2013 Nov;161A(11):2894-901. doi: 10.1002/ajmg.a.36259. Epub 2013 Oct 7.

PMID:
24124115

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