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140 related items for PubMed ID: 9415689

  • 1. 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 19; 73(3):304-7. PubMed ID: 9415689
    [Abstract] [Full Text] [Related]

  • 2. Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.
    Wicking C, Shanley S, Smyth I, Gillies S, Negus K, Graham S, Suthers G, Haites N, Edwards M, Wainwright B, Chenevix-Trench G.
    Am J Hum Genet; 1997 Jan 19; 60(1):21-6. PubMed ID: 8981943
    [Abstract] [Full Text] [Related]

  • 3. Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients.
    Fujii K, Kohno Y, Sugita K, Nakamura M, Moroi Y, Urabe K, Furue M, Yamada M, Miyashita T.
    Hum Mutat; 2003 Apr 19; 21(4):451-2. PubMed ID: 12655573
    [Abstract] [Full Text] [Related]

  • 4. Mutations in the human homologue of Drosophila patched (PTCH) in basal cell carcinomas and the Gorlin syndrome: different in vivo mechanisms of PTCH inactivation.
    Unden AB, Holmberg E, Lundh-Rozell B, Stähle-Bäckdahl M, Zaphiropoulos PG, Toftgård R, Vorechovsky I.
    Cancer Res; 1996 Oct 15; 56(20):4562-5. PubMed ID: 8840960
    [Abstract] [Full Text] [Related]

  • 5. Involvement of patched (PTCH) gene in Gorlin syndrome and related disorders: three family cases.
    Situm M, Levanat S, Crnic I, Pavelic B, Macan D, Grgurević J, Mubrin-Koncar M, Lipozencić J.
    Croat Med J; 1999 Dec 15; 40(4):533-8. PubMed ID: 10554356
    [Abstract] [Full Text] [Related]

  • 6. 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. PubMed ID: 8840969
    [Abstract] [Full Text] [Related]

  • 7. 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 21; 95(4):548-53. PubMed ID: 16909134
    [Abstract] [Full Text] [Related]

  • 8. Germline mutations of the PTCH gene in families with odontogenic keratocysts and nevoid basal cell carcinoma syndrome.
    Song YL, Zhang WF, Peng B, Wang CN, Wang Q, Bian Z.
    Tumour Biol; 2006 Aug 21; 27(4):175-80. PubMed ID: 16675912
    [Abstract] [Full Text] [Related]

  • 9. Nevoid basal cell carcinoma syndrome - clinical manifestations and mutation analysis of a Taiwanese family.
    Chung CH, Wong TY, Shieh TY, Shieh DB, Chao SC.
    J Formos Med Assoc; 2003 Nov 21; 102(11):793-7. PubMed ID: 14724726
    [Abstract] [Full Text] [Related]

  • 10. 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 Nov 21; 11(6):480. PubMed ID: 10200051
    [Abstract] [Full Text] [Related]

  • 11. PTCH gene mutations in odontogenic keratocysts.
    Barreto DC, Gomez RS, Bale AE, Boson WL, De Marco L.
    J Dent Res; 2000 Jun 21; 79(6):1418-22. PubMed ID: 10890722
    [Abstract] [Full Text] [Related]

  • 12. Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome.
    Tanioka M, Takahashi K, Kawabata T, Kosugi S, Murakami K, Miyachi Y, Nishigori C, Iizuka T.
    Arch Dermatol Res; 2005 Jan 21; 296(7):303-8. PubMed ID: 15565302
    [Abstract] [Full Text] [Related]

  • 13. 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 21; 25(3):322-3. PubMed ID: 15712338
    [Abstract] [Full Text] [Related]

  • 14. Analysis of mutation in exon 17 of PTCH in patients with nevoid basal cell carcinoma syndrome.
    Li J, Wang J, Liu Y, Wang W.
    Mol Biol Rep; 2010 Jan 21; 37(1):359-62. PubMed ID: 19728145
    [Abstract] [Full Text] [Related]

  • 15. DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain.
    Marsh A, Wicking C, Wainwright B, Chenevix-Trench G.
    Hum Mutat; 2005 Sep 21; 26(3):283. PubMed ID: 16088933
    [Abstract] [Full Text] [Related]

  • 16. Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome.
    Aszterbaum M, Rothman A, Johnson RL, Fisher M, Xie J, Bonifas JM, Zhang X, Scott MP, Epstein EH.
    J Invest Dermatol; 1998 Jun 21; 110(6):885-8. PubMed ID: 9620294
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  • 19. PTCH germline mutations in Chinese nevoid basal cell carcinoma syndrome patients.
    Li TJ, Yuan JW, Gu XM, Sun LS, Zhao HS.
    Oral Dis; 2008 Mar 21; 14(2):174-9. PubMed ID: 18302678
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