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23. A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa. Soufir N; Ged C; Bourillon A; Austerlitz F; Chemin C; Stary A; Armier J; Pham D; Khadir K; Roume J; Hadj-Rabia S; Bouadjar B; Taieb A; de Verneuil H; Benchiki H; Grandchamp B; Sarasin A J Invest Dermatol; 2010 Jun; 130(6):1537-42. PubMed ID: 20054342 [TBL] [Abstract][Full Text] [Related]
24. PTCH mutations in squamous cell carcinoma of the skin. Ping XL; Ratner D; Zhang H; Wu XL; Zhang MJ; Chen FF; Silvers DN; Peacocke M; Tsou HC J Invest Dermatol; 2001 Apr; 116(4):614-6. PubMed ID: 11286632 [TBL] [Abstract][Full Text] [Related]
25. Gorlin syndrome: identification of 4 novel germ-line mutations of the human patched (PTCH) gene. Mutations in brief no. 137. Online. Hasenpusch-Theil K; Bataille V; Laehdetie J; Obermayr F; Sampson JR; Frischauf AM Hum Mutat; 1998; 11(6):480. PubMed ID: 10200051 [TBL] [Abstract][Full Text] [Related]
26. PTCH gene mutations in odontogenic keratocysts. Barreto DC; Gomez RS; Bale AE; Boson WL; De Marco L J Dent Res; 2000 Jun; 79(6):1418-22. PubMed ID: 10890722 [TBL] [Abstract][Full Text] [Related]
27. De novo mutations of the Patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype. Wicking C; Gillies S; Smyth I; Shanley S; Fowles L; Ratcliffe J; Wainwright B; Chenevix-Trench G Am J Med Genet; 1997 Dec; 73(3):304-7. PubMed ID: 9415689 [TBL] [Abstract][Full Text] [Related]
29. Alterations in candidate genes PHF2, FANCC, PTCH1 and XPA at chromosomal 9q22.3 region: pathological significance in early- and late-onset breast carcinoma. Sinha S; Singh RK; Alam N; Roy A; Roychoudhury S; Panda CK Mol Cancer; 2008 Nov; 7():84. PubMed ID: 18990233 [TBL] [Abstract][Full Text] [Related]
30. Aberrant splicing and truncated-protein expression due to a newly identified XPA gene mutation. Sato M; Nishigori C; Yagi T; Takebe H Mutat Res; 1996 Feb; 362(2):199-208. PubMed ID: 8596539 [TBL] [Abstract][Full Text] [Related]
31. No evidence for mutations in exons 1, 8 and 18 of the patched gene in sporadic skin lesions of Brazilian patients. Granja F; Santarosa PL; Leite JL; Ward LS Braz J Med Biol Res; 2003 Apr; 36(4):459-62. PubMed ID: 12700822 [TBL] [Abstract][Full Text] [Related]
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35. UV mutation signature in tumor suppressor genes involved in skin carcinogenesis in xeroderma pigmentosum patients. D'Errico M; Calcagnile A; Canzona F; Didona B; Posteraro P; Cavalieri R; Corona R; Vorechovsky I; Nardo T; Stefanini M; Dogliotti E Oncogene; 2000 Jan; 19(3):463-7. PubMed ID: 10656695 [TBL] [Abstract][Full Text] [Related]
36. Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients. Amr K; Messaoud O; El Darouti M; Abdelhak S; El-Kamah G Gene; 2014 Jan; 533(1):52-6. PubMed ID: 24135642 [TBL] [Abstract][Full Text] [Related]
37. PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study. Soufir N; Gerard B; Portela M; Brice A; Liboutet M; Saiag P; Descamps V; Kerob D; Wolkenstein P; Gorin I; Lebbe C; Dupin N; Crickx B; Basset-Seguin N; Grandchamp B Br J Cancer; 2006 Aug; 95(4):548-53. PubMed ID: 16909134 [TBL] [Abstract][Full Text] [Related]
38. Sporadic medulloblastomas contain PTCH mutations. Raffel C; Jenkins RB; Frederick L; Hebrink D; Alderete B; Fults DW; James CD Cancer Res; 1997 Mar; 57(5):842-5. PubMed ID: 9041183 [TBL] [Abstract][Full Text] [Related]
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