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Items: 1 to 20 of 130

1.

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
2.

Selective haploinsufficiency of longer isoforms of PTCH1 protein can cause nevoid basal cell carcinoma syndrome.

Suzuki M, Hatsuse H, Nagao K, Takayama Y, Kameyama K, Kabasawa Y, Omura K, Yoshida M, Fujii K, Miyashita T.

J Hum Genet. 2012 Jul;57(7):422-6. doi: 10.1038/jhg.2012.45. Epub 2012 May 10.

PMID:
22572734
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.

Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.

Fujii K, Ohashi H, Suzuki M, Hatsuse H, Shiohama T, Uchikawa H, Miyashita T.

Fam Cancer. 2013 Dec;12(4):611-4. doi: 10.1007/s10689-013-9623-1.

PMID:
23479190
5.

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
6.

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
7.

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.

8.

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. Epub 2010 Jan 12.

9.

Nevoid basal cell carcinoma syndrome with cleft lip and palate associated with the novel PTCH gene mutations.

Sasaki R, Saito K, Watanabe Y, Takayama Y, Fujii K, Agawa K, Miyashita T, Ando T, Akizuki T.

J Hum Genet. 2009 Jul;54(7):398-402. doi: 10.1038/jhg.2009.51. Epub 2009 Jun 12.

PMID:
19521425
10.

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
11.

High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome.

Fujii K, Ishikawa S, Uchikawa H, Komura D, Shapero MH, Shen F, Hung J, Arai H, Tanaka Y, Sasaki K, Kohno Y, Yamada M, Jones KW, Aburatani H, Miyashita T.

Hum Genet. 2007 Dec;122(5):459-66. Epub 2007 Aug 17.

PMID:
17703323
12.

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
13.

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
14.

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
15.

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
16.

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
17.

A novel exon duplication event leading to a truncating germ-line mutation of the APC gene in a familial adenomatous polyposis family.

McCart A, Latchford A, Volikos E, Rowan A, Tomlinson I, Silver A.

Fam Cancer. 2006;5(2):205-8.

PMID:
16736293
18.

PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.

Guo YY, Zhang JY, Li XF, Luo HY, Chen F, Li TJ.

PLoS One. 2013 Oct 21;8(10):e77305. doi: 10.1371/journal.pone.0077305. eCollection 2013. Review.

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.

Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome.

Le Brun Keris Y, Jouk PS, Saada-Sebag G, Roux JJ, Mattei B, Bagait L, Paoloni-Giacobino A, Grandchamp B, Soufir N, Lespinasse J.

Eur J Med Genet. 2008 Sep-Oct;51(5):472-8. doi: 10.1016/j.ejmg.2008.04.002. Epub 2008 May 2.

PMID:
18539553
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