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Items: 1 to 20 of 96

1.

Loss of the PTCH1 gene locus in cardiac fibroma.

Scanlan D, Radio SJ, Nelson M, Zhou M, Streblow R, Prasad V, Reyes C, Perry D, Fletcher S, Bridge JA.

Cardiovasc Pathol. 2008 Mar-Apr;17(2):93-7. doi: 10.1016/j.carpath.2007.08.001.

2.

Somatic copy number losses on chromosome 9q21.33q22.33 encompassing the PTCH1 loci associated with cardiac fibroma.

Zhang Q, Wang T, Wang D, Liu J, Yu W, Liu X, Xiang X, Dong K, You F, Zhang G, Ju J, Zhu M, Duan W, Qiao B.

Cancer Genet. 2015 Dec;208(12):615-20. doi: 10.1016/j.cancergen.2015.09.006.

PMID:
26564558
3.
4.

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.

PMID:
25403219
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.
7.

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
8.

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.

PMID:
24124115
9.

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.

PMID:
19557015
10.

Clinical features of microdeletion 9q22.3 (pat).

Shimojima K, Adachi M, Tanaka M, Tanaka Y, Kurosawa K, Yamamoto T.

Clin Genet. 2009 Apr;75(4):384-93. doi: 10.1111/j.1399-0004.2008.01141.x.

PMID:
19320658
11.

Mechanisms of inactivation of PTCH1 gene in nevoid basal cell carcinoma syndrome: modification of the two-hit hypothesis.

Pan S, Dong Q, Sun LS, Li TJ.

Clin Cancer Res. 2010 Jan 15;16(2):442-50. doi: 10.1158/1078-0432.CCR-09-2574.

12.

Complex karyotypic abnormality in ovarian fibroma associated with Gorlin syndrome.

Smith LM, Hu P, Meyer LJ, Coffin CM.

Am J Med Genet. 2002 Sep 15;112(1):61-4.

PMID:
12239722
13.

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
14.

Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: report of two cases and review of the literature.

Yamamoto K, Yoshihashi H, Furuya N, Adachi M, Ito S, Tanaka Y, Masuno M, Chiyo H, Kurosawa K.

Congenit Anom (Kyoto). 2009 Mar;49(1):8-14. doi: 10.1111/j.1741-4520.2008.00212.x.

PMID:
19243411
15.

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.

16.

An 8.9 year old girl with autism and Gorlin syndrome.

Delbroek H, Steyaert J, Legius E.

Eur J Paediatr Neurol. 2011 May;15(3):268-70. doi: 10.1016/j.ejpn.2010.12.001.

PMID:
21190878
17.

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
18.

Entire PTCH1 deletion is a common event in point mutation-negative cases with nevoid basal cell carcinoma syndrome in Japan.

Nagao K, Fujii K, Saito K, Sugita K, Endo M, Motojima T, Hatsuse H, Miyashita T.

Clin Genet. 2011 Feb;79(2):196-8. doi: 10.1111/j.1399-0004.2010.01527.x. No abstract available.

PMID:
21210781
19.

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.

Muller EA, Aradhya S, Atkin JF, Carmany EP, Elliott AM, Chudley AE, Clark RD, Everman DB, Garner S, Hall BD, Herman GE, Kivuva E, Ramanathan S, Stevenson DA, Stockton DW, Hudgins L.

Am J Med Genet A. 2012 Feb;158A(2):391-9. doi: 10.1002/ajmg.a.34216.

20.

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.

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