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Items: 1 to 20 of 175

1.

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
2.

Gorlin syndrome with an ovarian leiomyoma associated with a PTCH1 second hit.

Akizawa Y, Miyashita T, Sasaki R, Nagata R, Aoki R, Ishitani K, Nagashima Y, Matsui H, Saito K.

Am J Med Genet A. 2016 Apr;170A(4):1029-34. doi: 10.1002/ajmg.a.37517. Epub 2016 Jan 18.

PMID:
26782978
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.

[From gene to disease: basal cell naevus syndrome].

de Meij TG, Baars MJ, Gille JJ, Hack WW, Haasnoot K, van Hagen JM.

Ned Tijdschr Geneeskd. 2005 Jan 8;149(2):78-81. Review. Dutch.

PMID:
15688838
5.

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. Epub 2011 Dec 21.

6.

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
7.

Ameloblastoma associated with the nevoid basal cell carcinoma (Gorlin) syndrome.

Eslami B, Lorente C, Kieff D, Caruso PA, Faquin WC.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008 Jun;105(6):e10-3. doi: 10.1016/j.tripleo.2008.01.034. Epub 2008 Apr 16.

PMID:
18417377
8.

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
9.

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
10.

Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome.

de Ravel TJ, Ameye L, Ballon K, Borghgraef M, Vermeesch JR, Devriendt K.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):145-7. doi: 10.1016/j.ejmg.2009.02.002. Epub 2009 Feb 21.

PMID:
19233320
11.

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
12.

Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas.

Isidor B, Bourdeaut F, Lafon D, Plessis G, Lacaze E, Kannengiesser C, Rossignol S, Pichon O, Briand A, Martin-Coignard D, Piccione M, David A, Delattre O, Jeanpierre C, Sévenet N, Le Caignec C.

Eur J Hum Genet. 2013 Jul;21(7):784-7. doi: 10.1038/ejhg.2012.252. Epub 2012 Nov 21.

13.
14.

Multiple keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome having distinct PTCH1 mutations: a case report.

Sasaki R, Miyashita T, Matsumoto N, Fujii K, Saito K, Ando T.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2010 Aug;110(2):e41-6. doi: 10.1016/j.tripleo.2010.04.006.

PMID:
20659694
15.

Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome.

Cajaiba MM, Bale AE, Alvarez-Franco M, McNamara J, Reyes-Múgica M.

Nat Clin Pract Oncol. 2006 Oct;3(10):575-80.

PMID:
17019435
16.

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
17.

[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.

18.

Unicystic ameloblastoma associated with the novel K729M PTCH1 mutation in a patient with nevoid basal cell carcinoma (Gorlin) syndrome.

Ponti G, Pollio A, Mignogna MD, Pellacani G, Pastorino L, Bianchi-Scarrà G, Di Gregorio C, Magnoni C, Azzoni P, Greco M, Seidenari S.

Cancer Genet. 2012 Apr;205(4):177-81. doi: 10.1016/j.cancergen.2012.01.012.

PMID:
22559979
19.

Gorlin syndrome patient with large deletion in 9q22.32-q22.33 detected by quantitative multiplex fluorescent PCR.

Musani V, Cretnik M, Situm M, Basta-Juzbasic A, Levanat S.

Dermatology. 2009;219(2):111-8. doi: 10.1159/000219247. Epub 2009 May 14. Review.

PMID:
19439922
20.

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

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