Terms: = Germ cell tumor AND PTCH1, RP11-435O5_3, Q13635, PTCH, 5727, HPE7, FLJ26746, NBCCS, BCNS, PTC1, ENSG00000185920, FLJ42602 AND Diagnosis
34 results:
1. Case report of bilateral ovarian fibromas associated with de novo germline variants in ptch1 and SMARCA4.
Higashimoto T; Smith CH; Hopkins MR; Gross J; Xing D; Lee JW; Morris T; Bodurtha J
Mol Genet Genomic Med; 2022 Sep; 10(9):e2005. PubMed ID: 35775118
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2. Subgroup and subtype-specific outcomes in adult medulloblastoma.
Coltin H; Sundaresan L; Smith KS; Skowron P; Massimi L; Eberhart CG; Schreck KC; Gupta N; Weiss WA; Tirapelli D; Carlotti C; Li KKW; Ryzhova M; Golanov A; Zheludkova O; Absalyamova O; Okonechnikov K; Stichel D; von Deimling A; Giannini C; Raskin S; Van Meir EG; Chan JA; Fults D; Chambless LB; Kim SK; Vasiljevic A; Faure-Conter C; Vibhakar R; Jung S; Leary S; Mora J; McLendon RE; Pollack IF; Hauser P; Grajkowska WA; Rubin JB; van Veelen MC; French PJ; Kros JM; Liau LM; Pfister SM; Kool M; Kijima N; Taylor MD; Packer RJ; Northcott PA; Korshunov A; Ramaswamy V
Acta Neuropathol; 2021 Nov; 142(5):859-871. PubMed ID: 34409497
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3. Dermoscopy and reflectance confocal microscopy of balloon cell nevi: a series of 10 cases.
Fusano M; Soglia S; Gianotti R; Bencini PL
Int J Dermatol; 2021 Jun; 60(6):708-711. PubMed ID: 33580719
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4. Medulloblastoma With Metastasis to the Jaw in a Child With Nevoid Basal cell Carcinoma Syndrome: A Case Report.
Cartrite M; Yang D; Farr B; Stone J
J Oral Maxillofac Surg; 2019 Nov; 77(11):2279-2284. PubMed ID: 31310734
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5. Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.
Waszak SM; Northcott PA; Buchhalter I; Robinson GW; Sutter C; Groebner S; Grund KB; Brugières L; Jones DTW; Pajtler KW; Morrissy AS; Kool M; Sturm D; Chavez L; Ernst A; Brabetz S; Hain M; Zichner T; Segura-Wang M; Weischenfeldt J; Rausch T; Mardin BR; Zhou X; Baciu C; Lawerenz C; Chan JA; Varlet P; Guerrini-Rousseau L; Fults DW; Grajkowska W; Hauser P; Jabado N; Ra YS; Zitterbart K; Shringarpure SS; De La Vega FM; Bustamante CD; Ng HK; Perry A; MacDonald TJ; Hernáiz Driever P; Bendel AE; Bowers DC; McCowage G; Chintagumpala MM; Cohn R; Hassall T; Fleischhack G; Eggen T; Wesenberg F; Feychting M; Lannering B; Schüz J; Johansen C; Andersen TV; Röösli M; Kuehni CE; Grotzer M; Kjaerheim K; Monoranu CM; Archer TC; Duke E; Pomeroy SL; Shelagh R; Frank S; Sumerauer D; Scheurlen W; Ryzhova MV; Milde T; Kratz CP; Samuel D; Zhang J; Solomon DA; Marra M; Eils R; Bartram CR; von Hoff K; Rutkowski S; Ramaswamy V; Gilbertson RJ; Korshunov A; Taylor MD; Lichter P; Malkin D; Gajjar A; Korbel JO; Pfister SM
Lancet Oncol; 2018 Jun; 19(6):785-798. PubMed ID: 29753700
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6. 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; 154(2):57-61. PubMed ID: 29544218
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7. germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis.
Guerrini-Rousseau L; Dufour C; Varlet P; Masliah-Planchon J; Bourdeaut F; Guillaud-Bataille M; Abbas R; Bertozzi AI; Fouyssac F; Huybrechts S; Puget S; Bressac-De Paillerets B; Caron O; Sevenet N; Dimaria M; Villebasse S; Delattre O; Valteau-Couanet D; Grill J; Brugières L
Neuro Oncol; 2018 Jul; 20(8):1122-1132. PubMed ID: 29186568
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8. Cancer Surveillance in Gorlin Syndrome and Rhabdoid tumor Predisposition Syndrome.
Foulkes WD; Kamihara J; Evans DGR; Brugières L; Bourdeaut F; Molenaar JJ; Walsh MF; Brodeur GM; Diller L
Clin Cancer Res; 2017 Jun; 23(12):e62-e67. PubMed ID: 28620006
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9. Genetic diseases associated with an increased risk of skin cancer development in childhood.
Fogel AL; Sarin KY; Teng JMC
Curr Opin Pediatr; 2017 Aug; 29(4):426-433. PubMed ID: 28525403
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10. ATOH1 Promotes Leptomeningeal Dissemination and Metastasis of Sonic Hedgehog Subgroup Medulloblastomas.
Grausam KB; Dooyema SDR; Bihannic L; Premathilake H; Morrissy AS; Forget A; Schaefer AM; Gundelach JH; Macura S; Maher DM; Wang X; Heglin AH; Ge X; Zeng E; Puget S; Chandrasekar I; Surendran K; Bram RJ; Schüller U; Talyor MD; Ayrault O; Zhao H
Cancer Res; 2017 Jul; 77(14):3766-3777. PubMed ID: 28490517
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11. Activation of the basal cell carcinoma pathway in a patient with CNS HGNET-BCOR diagnosis: consequences for personalized targeted therapy.
Paret C; Theruvath J; Russo A; Kron B; El Malki K; Lehmann N; Wingerter A; Neu MA; Gerhold-Ay A; Wagner W; Sommer C; Pietsch T; Seidmann L; Faber J
Oncotarget; 2016 Dec; 7(50):83378-83391. PubMed ID: 27825128
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12. Distinct patterns of primary and motile cilia in Rathke's cleft cysts and craniopharyngioma subtypes.
Coy S; Du Z; Sheu SH; Woo T; Rodriguez FJ; Kieran MW; Santagata S
Mod Pathol; 2016 Dec; 29(12):1446-1459. PubMed ID: 27562488
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13. Clinical, pathological, and molecular data on desmoplastic/nodular medulloblastoma: case studies and a review of the literature.
Siegfried A; Bertozzi AI; Bourdeaut F; Sevely A; Loukh N; Grison C; Miquel C; Lafon D; Sevenet N; Pietsch T; Dufour C; Delisle MB
Clin Neuropathol; 2016; 35(3):106-13. PubMed ID: 26857864
[TBL] [Abstract] [Full Text] [Related]
14. Biomarker-driven stratification of disease-risk in non-metastatic medulloblastoma: Results from the multi-center HIT-SIOP-PNET4 clinical trial.
Clifford SC; Lannering B; Schwalbe EC; Hicks D; O'Toole K; Nicholson SL; Goschzik T; Zur Mühlen A; Figarella-Branger D; Doz F; Rutkowski S; Gustafsson G; Pietsch T;
Oncotarget; 2015 Nov; 6(36):38827-39. PubMed ID: 26420814
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15. Identification of variants in primary and recurrent glioblastoma using a cancer-specific gene panel and whole exome sequencing.
Virk SM; Gibson RM; Quinones-Mateu ME; Barnholtz-Sloan JS
PLoS One; 2015; 10(5):e0124178. PubMed ID: 25950952
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16. Gorlin syndrome and desmoplastic medulloblastoma: Report of 3 cases with unfavorable clinical course and novel mutations.
Gururangan S; Robinson G; Ellison DW; Wu G; He X; Lu QR; McLendon R; Grant G; Driscoll T; Neuberg R
Pediatr Blood Cancer; 2015 Oct; 62(10):1855-8. PubMed ID: 25940061
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17. 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
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18. "ptch"-ing it together: a basal cell nevus syndrome review.
Lam C; Ou JC; Billingsley EM
Dermatol Surg; 2013 Nov; 39(11):1557-72. PubMed ID: 23725561
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19. Consensus statement from the first international colloquium on basal cell nevus syndrome (bcns).
Bree AF; Shah MR;
Am J Med Genet A; 2011 Sep; 155A(9):2091-7. PubMed ID: 21834049
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20. Rapid diagnosis of medulloblastoma molecular subgroups.
Schwalbe EC; Lindsey JC; Straughton D; Hogg TL; Cole M; Megahed H; Ryan SL; Lusher ME; Taylor MD; Gilbertson RJ; Ellison DW; Bailey S; Clifford SC
Clin Cancer Res; 2011 Apr; 17(7):1883-94. PubMed ID: 21325292
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