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Items: 1 to 20 of 101

1.

[Gorlin syndrome in the paediatric age].

Roncalés-Samanes P, Peña-Segura JL, Fernando-Martínez R, Fuertes-Rodrigo C, García-Oguiza A, López-Pisón J.

Rev Neurol. 2014 Apr 1;58(7):303-7. Spanish.

2.

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.

3.

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. Epub 2010 Dec 28.

PMID:
21190878
4.

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
5.

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.

6.

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
7.

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.

8.

Molecular evidence of type 2 mosaicism in Gorlin syndrome.

Torrelo A, Hernández-Martín A, Bueno E, Colmenero I, Rivera I, Requena L, Happle R, González-Sarmiento R.

Br J Dermatol. 2013 Dec;169(6):1342-5. doi: 10.1111/bjd.12458.

PMID:
23746055
9.

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
10.

Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.

Chidambaram A, Goldstein AM, Gailani MR, Gerrard B, Bale SJ, DiGiovanna JJ, Bale AE, Dean M.

Cancer Res. 1996 Oct 15;56(20):4599-601.

11.

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.

12.

[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
13.

[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.

14.

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
15.

Nevoid basal cell carcinoma syndrome.

Leger M, Quintana A, Tzu J, Yee H, Kamino H, Sanchez M.

Dermatol Online J. 2011 Oct 15;17(10):23. Review.

16.

Early-onset acral basal cell carcinomas in Gorlin syndrome.

Torrelo A, Vicente A, Navarro L, Planaguma M, Bueno E, González-Sarmiento R, Hernández-Martín A, Noguera-Morel L, Requena L, Colmenero I, Parareda A, González-Enseñat MA, Happle R.

Br J Dermatol. 2014 Nov;171(5):1227-9. doi: 10.1111/bjd.13118. Epub 2014 Oct 1.

PMID:
24837096
17.

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
18.

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
19.

Manifestations of Gorlin-Goltz syndrome.

Larsen AK, Mikkelsen DB, Hertz JM, Bygum A.

Dan Med J. 2014 May;61(5):A4829.

PMID:
24814739
20.

Nevoid basal cell carcinoma syndrome (Gorlin syndrome).

Lo Muzio L.

Orphanet J Rare Dis. 2008 Nov 25;3:32. doi: 10.1186/1750-1172-3-32. Review.

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