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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; 13(3):5654-63. PubMed ID: 25117323 [TBL] [Abstract][Full Text] [Related]
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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. PubMed ID: 26782978 [TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 24941978 [TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 19533801 [TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 22190277 [TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 23746055 [TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 25727044 [TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 22559979 [TBL] [Abstract][Full Text] [Related]
11. [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; 149(2):78-81. PubMed ID: 15688838 [TBL] [Abstract][Full Text] [Related]
12. 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; 56(20):4599-601. PubMed ID: 8840969 [TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 25188659 [TBL] [Abstract][Full Text] [Related]