Terms: = Skin cancer AND XPC, XP3, 7508, ENSG00000154767, XPCC AND Diagnosis
11 results:
1. Recurrent squamous cell carcinoma and a novel mutation in a patient with xeroderma pigmentosum: a case report.
Şahin EA; Taşkıran EZ; Kiper PÖŞ; Aydın B; Utine E
J Med Case Rep; 2022 Jul; 16(1):306. PubMed ID: 35902966
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2. A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C.
Macke EL; Morales-Rosado JA; Gupta A; Schmitz CT; Kruisselbrink T; Lanpher B; Klee EW
Cold Spring Harb Mol Case Stud; 2020 Aug; 6(4):. PubMed ID: 32843428
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3. Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients.
Santiago KM; Castro LP; Neto JPD; de Nóbrega AF; Pinto CAL; Ashton-Prolla P; Pinto E Vairo F; de Medeiros PFV; Ribeiro EM; Ribeiro BFR; do Valle FF; Doriqui MJR; Leite CHB; Rocha RM; Moura LMS; Munford V; Galante PAF; Menck CFM; Rogatto SR; Achatz MI
J Eur Acad Dermatol Venereol; 2020 Oct; 34(10):2392-2401. PubMed ID: 32239545
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4. skin cancers in patients of skin phototype V or VI with xeroderma pigmentosum type C (XP-C): A retrospective study.
Ventéjou S; Bagny K; Waldmeyer J; Cartault F; Machet L; Osdoit S
Ann Dermatol Venereol; 2019 Mar; 146(3):192-203. PubMed ID: 30853323
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5. Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients.
Zhou EY; Wang H; Lin Z; Xu G; Ma Z; Zhao J; Feng C; Duo L; Yin J; Yang Y
J Dermatol; 2017 Jan; 44(1):71-75. PubMed ID: 27607234
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6. Repair of UVB-induced DNA damage is reduced in melanoma due to low xpc and global genome repair.
Budden T; Davey RJ; Vilain RE; Ashton KA; Braye SG; Beveridge NJ; Bowden NA
Oncotarget; 2016 Sep; 7(38):60940-60953. PubMed ID: 27487145
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7. Unexpected extradermatological findings in 31 patients with xeroderma pigmentosum type C.
Hadj-Rabia S; Oriot D; Soufir N; Dufresne H; Bourrat E; Mallet S; Poulhalon N; Ezzedine K; Grandchamp B; Taïeb A; Catteau B; Sarasin A; Bodemer C
Br J Dermatol; 2013 May; 168(5):1109-13. PubMed ID: 23278166
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8. Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations.
Schäfer A; Hofmann L; Gratchev A; Laspe P; Schubert S; Schürer A; Ohlenbusch A; Tzvetkov M; Hallermann C; Reichrath J; Schön MP; Emmert S
Exp Dermatol; 2013 Jan; 22(1):24-9. PubMed ID: 23173980
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9. Founder mutations in xeroderma pigmentosum.
Tamura D; DiGiovanna JJ; Kraemer KH
J Invest Dermatol; 2010 Jun; 130(6):1491-3. PubMed ID: 20463673
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10. Diagnosing xeroderma pigmentosum group C by immunohistochemistry.
de Feraudy S; Boubakour-Azzouz I; Fraitag S; Berneburg M; Chan L; Chew K; Clericuzio CL; Cunningham B; Tope WD; Cleaver JE
Am J Dermatopathol; 2010 Apr; 32(2):109-17. PubMed ID: 19915453
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11. Xeroderma pigmentosum group C in a French Caucasian patient with multiple melanoma and unusual long-term survival.
Jacobelli S; Soufir N; Lacapere JJ; Regnier S; Bourillon A; Grandchamp B; Hétet G; Pham D; Palangie A; Avril MF; Dupin N; Sarasin A; Gorin I
Br J Dermatol; 2008 Sep; 159(4):968-73. PubMed ID: 18717677
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