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329 related items for PubMed ID: 25131638
1. Gorlin syndrome (nevoid basal cell carcinoma syndrome): update and literature review. Fujii K, Miyashita T. Pediatr Int; 2014 Oct; 56(5):667-74. PubMed ID: 25131638 [Abstract] [Full Text] [Related]
4. A Novel PTCH1 Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome. Durmaz CD, Evans G, Smith MJ, Ertop P, Akay BN, Tuncalı T. Cytogenet Genome Res; 2018 Jun; 154(2):57-61. PubMed ID: 29544218 [Abstract] [Full Text] [Related]
5. Hedgehog signaling is synergistically enhanced by nutritional deprivation and ligand stimulation in human fibroblasts of Gorlin syndrome. Mizuochi H, Fujii K, Shiohama T, Uchikawa H, Shimojo N. Biochem Biophys Res Commun; 2015 Feb 13; 457(3):318-23. PubMed ID: 25576868 [Abstract] [Full Text] [Related]
6. Basal cell nevus syndrome or Gorlin syndrome. Thalakoti S, Geller T. Handb Clin Neurol; 2015 Feb 13; 132():119-28. PubMed ID: 26564075 [Abstract] [Full Text] [Related]
7. Nevoid Basal Cell Carcinoma Syndrome: PTCH1 Mutation Profile and Expression of Genes Involved in the Hedgehog Pathway in Argentinian Patients. Martinez MF, Romano MV, Martinez AP, González A, Muchnik C, Stengel FM, Mazzuoccolo LD, Azurmendi PJ. Cells; 2019 Feb 11; 8(2):. PubMed ID: 30754660 [Abstract] [Full Text] [Related]
8. [PTCH1 gene analysis in 25 Japanese patients with Gorlin syndrome]. Endo M, Fujii K, Miyashita T, Uchikawa H, Tanabe R, Sugita K, Arai H, Kohno Y. No To Hattatsu; 2009 Jul 11; 41(4):259-63. PubMed ID: 19618880 [Abstract] [Full Text] [Related]
9. 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 11; 56(4):277-83. PubMed ID: 21368767 [Abstract] [Full Text] [Related]
10. Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype. Onodera S, Saito A, Hasegawa D, Morita N, Watanabe K, Nomura T, Shibahara T, Ohba S, Yamaguchi A, Azuma T. PLoS One; 2017 Apr 11; 12(9):e0184702. PubMed ID: 28915250 [Abstract] [Full Text] [Related]
11. Basal cell nevus syndrome: an update on clinical findings. Fernández LT, Ocampo-Garza SS, Elizondo-Riojas G, Ocampo-Candiani J. Int J Dermatol; 2022 Sep 11; 61(9):1047-1055. PubMed ID: 34494262 [Abstract] [Full Text] [Related]
12. Spectrum of PTCH1 mutations in French patients with Gorlin syndrome. Boutet N, Bignon YJ, Drouin-Garraud V, Sarda P, Longy M, Lacombe D, Gorry P. J Invest Dermatol; 2003 Sep 11; 121(3):478-81. PubMed ID: 12925203 [Abstract] [Full Text] [Related]
18. SHH desmoplastic/nodular medulloblastoma and Gorlin syndrome in the setting of Down syndrome: case report, molecular profiling, and review of the literature. Mangum R, Varga E, Boué DR, Capper D, Benesch M, Leonard J, Osorio DS, Pierson CR, Zumberge N, Sahm F, Schrimpf D, Pfister SM, Finlay JL. Childs Nerv Syst; 2016 Dec 20; 32(12):2439-2446. PubMed ID: 27444290 [Abstract] [Full Text] [Related]