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Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair.

作者信息

Robbins J H, Kraemer K H, Lutzner M A, Festoff B W, Coon H G

出版信息

Ann Intern Med. 1974 Feb;80(2):221-48. doi: 10.7326/0003-4819-80-2-221.

DOI:10.7326/0003-4819-80-2-221
PMID:4811796
Abstract
摘要

相似文献

1
Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair.着色性干皮病。一种遗传性疾病，对阳光敏感，有多种皮肤肿瘤，且DNA修复异常。
Ann Intern Med. 1974 Feb;80(2):221-48. doi: 10.7326/0003-4819-80-2-221.
2
[A variant of xeroderma pigmentosum: two cases of pigmented xerodermoid].[着色性干皮病的一种变异型：两例色素沉着性类干皮病]
Orv Hetil. 1994 Aug 7;135(32):1759-61.
3
Xeroderma pigmentosum. Clinical and laboratory investigation of its basic defect.着色性干皮病。其基本缺陷的临床及实验室研究。
JAMA. 1969 Mar 17;207(11):2073-9. doi: 10.1001/jama.207.11.2073.
4
[Xeroderma pigmentosum and pigmented xerodermoid. Clinical and molecular biological studies].[着色性干皮病和着色性干皮病样病变。临床及分子生物学研究]
Schweiz Med Wochenschr. 1970 Oct 10;100(41):1718-26.
5
A young woman with xeroderma pigmentosum complementation group F and a morphoeic basal cell carcinoma.
Br J Dermatol. 1995 Jan;132(1):122-7. doi: 10.1111/j.1365-2133.1995.tb08637.x.
6
[Xeroderma pigmentosum. What may be expected from biological studies?].
Ann Dermatol Venereol. 1994;121(5):434-9.
7
Relationship of DNA repair to carcinogenesis in xeroderma pigmentosum.着色性干皮病中DNA修复与致癌作用的关系。
Cancer Res. 1973 May;33(5):929-35.
8
Ultraviolet-specific mutations in p53 gene in skin tumors in xeroderma pigmentosum patients.着色性干皮病患者皮肤肿瘤中p53基因的紫外线特异性突变。
Cancer Res. 1993 Jul 1;53(13):2944-6.
9
Different inherited levels of DNA repair replication in xeroderma pigmentosum cell strains after exposure to ultraviolet irradiation.着色性干皮病细胞株在紫外线照射后DNA修复复制的不同遗传水平。
Mutat Res. 1970 May;9(5):507-16. doi: 10.1016/0027-5107(70)90035-7.
10
Xeroderma pigmentosum: a human disease in which an initial stage of DNA repair is defective.着色性干皮病：一种人类疾病，其DNA修复的初始阶段存在缺陷。
Proc Natl Acad Sci U S A. 1969 Jun;63(2):428-35. doi: 10.1073/pnas.63.2.428.

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Retrospective study of efficacy and adverse events of immune checkpoint inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable cancers.22例患有转移性或不可切除癌症的着色性干皮病患者使用免疫检查点抑制剂的疗效和不良事件的回顾性研究。
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The French Cohort of DNA Repair-Deficient Xeroderma Pigmentosum Patients: Risk of Hematological Malignancies.法国DNA修复缺陷型着色性干皮病患者队列：血液系统恶性肿瘤风险
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Xeroderma Pigmentosum: A Genetic Condition Skin Cancer Correlated-A Systematic Review.
着色性干皮病：与皮肤癌相关的遗传病症——系统综述。
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Xeroderma Pigmentosum-Associated Childhood Interstitial Lung Disease.着色性干皮病相关儿童间质性肺疾病
Turk Thorac J. 2022 Mar;23(2):192-195. doi: 10.5152/TurkThoracJ.2022.20304.
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Increased risk of internal tumors in DNA repair-deficient xeroderma pigmentosum patients: analysis of four international cohorts.DNA 修复缺陷型着色性干皮病患者发生内脏肿瘤风险增加：四项国际队列研究分析。
Orphanet J Rare Dis. 2022 Mar 4;17(1):104. doi: 10.1186/s13023-022-02203-1.
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Xeroderma Pigmentosum: General Aspects and Management.着色性干皮病：概述与管理
J Pers Med. 2021 Nov 4;11(11):1146. doi: 10.3390/jpm11111146.
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Surgical Excision with Rotational Flap Reconstruction for Basosquamous Cell Carcinoma in Xeroderma Pigmentosa: A Case Report.旋转皮瓣重建术治疗着色性干皮病伴基底鳞状细胞癌：1例报告
Indian J Otolaryngol Head Neck Surg. 2019 Oct;71(Suppl 1):702-705. doi: 10.1007/s12070-018-1508-z. Epub 2018 Oct 3.
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Does ocular inflammation play a role in xeroderma pigmentosum with endothelial dysfunction: an immunological study.眼部炎症在伴有内皮功能障碍的着色性干皮病中是否起作用：一项免疫学研究。
BMJ Case Rep. 2018 Nov 28;11(1):e225384. doi: 10.1136/bcr-2018-225384.
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Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.修复蛋白在 DNA 损伤处的持久性是具有 Cockayne 综合征特征的 XPF 缺陷的特征。
Nucleic Acids Res. 2018 Oct 12;46(18):9563-9577. doi: 10.1093/nar/gky774.
10
Bilateral ocular surface squamous neoplasia with bilateral periocular basal cell carcinoma in a case of xeroderma pigmentosum.一例着色性干皮病患者出现双侧眼表鳞状上皮瘤伴双侧眼周基底细胞癌。
BMJ Case Rep. 2017 Dec 2;2017:bcr-2017-220882. doi: 10.1136/bcr-2017-220882.