Results 81 to 90 of about 15,819 (153)

The Sad Story of a Family with Xeroderma Pigmentosum

, 2000
A family of xeroderma pigmentosum patients, three of whom died of internal malignancies and the fourth of a possible radiation-induced melanoma, is described.
Jack Cohen
core   +1 more source

Xeroderma pigmentosum. Case presentation.

Medisur, 2008
Twelve years old patient (YGS), female, white, of rural origin; with history of facial and truncal bullae since the age of eight months when exposed to the sun light. It was first diagnosed as solar dermatitis.
Damaris Díaz Leonard, Arelis Herrera Alonso, Magdalena Vigera Fajardo   +2 more
doaj   +2 more sources

Enhanced Repair of UV-induced DNA damage by T4N5 liposomal lotion in Xeroderma Pigmentosum in vitro model

, 2023
reservedXeroderma Pigmentosum (XP) is a rare genetic disease characterized by an enzymatic defect in the nucleotide excision repair (NER). Patients affected by XP show extreme sensitivity to sun exposure and high predisposition to develop skin tumors. In
BRUNI, EMANUELA
core  

Xeroderma pigmentosum: a rapid sensitive method for prenatal diagnosis

, 1971
When normal human cells, capable of repairing ultraviolet-induced lesions in their DNA, are incubated in the thymidine analog 5-bromodeoxyuridine after ultraviolet irradiation, the analog is incorporated into the repaired regions.
Klein, E, Setlow, R B, Burgess, G, Kaback, M M, Howell, R R, Regan, J D   +5 more
core   +1 more source

Xeroderma pigmentosum in eastern Turkey: a review of 15 cases

, 2012
Aim: To determine the demographic and clinical characteristics of xeroderma pigmentosum (XP). XP is a rare autosomal recessive disease that is characterized by cellular hypersensitivity to ultraviolet radiation, development of cancers at an early age ...
Güneş Bilgili, Serap, AKDENİZ, Necmettin, Karadag, Ayse Serap, Calka, Omer, Bilgili, Serap Gunes, Bilgili, Serap, NECMETTİN AKDENİZ, SERAP GÜNEŞ BİLGİLİ, ÖMER ÇALKA, AYŞE SERAP KARADAĞ   +9 more
core   +1 more source

High-Grade Sinonasal Small Cell Neuroendocrine Carcinoma in a Patient With Xeroderma Pigmentosum: A Case Report

Ear, Nose & Throat Journal
Neuroendocrine tumors are rare and highly heterogeneous neoplasms with a wide spectrum of histological differentiation, functional, and biological features.
Abdulaziz M. Alabdulkareem MBBS, Naif H. Alotaibi MD, Abdulaziz A. Almobarak MBBS, M. Anas Dababo MD   +3 more
doaj   +1 more source

Kératoacanthomes et xeroderma pigmentosum

, 1977
A girl with xeroderma pigmentosum has developed seven successive keratoacanthomas on the face, since the age of 5, during a period of two and a half years. The clinical diagnosis of keratoacanthoma was obvious for most lesions.
Tennstedt, Dominique, Lachapelle, Jean-Marie   +1 more
core  

Young Cuban Patients with a Clinical and biochemical Diagnosis of Xeroderma Pigmentosum

Revista Finlay
Foundation: skin cancer is a complication of xeroderma pigmentosum; early diagnosis is important. The alkaline comet assay with ultraviolet C radiation and the western blot assay are useful for diagnosis.
Judith Beatriz Pupo Balboa, Mónica Marín García, Anamarys Pandolfi Blanco, Lucía Fariñas Rodríguez, Paulina Araceli Lantigua Cruz   +4 more
doaj  

Xeroderma pigmentosum aiheuttaa ennenaikaisen vanhenemisen

• Xeroderma pigmentosum on harvinainen autosomaalisesti resessiivisesti periytyvä sairaus. • Sen taustalla on useita geenejä, joista yleisin on XPA. • Taudinkuva viittaa kiihtyneeseen vanhenemiseen. • Potilaille ilmaantuu ihosyöpiä jo nuoruudessa. Osalla
Anttinen, Anu, Koulu, Leena, Haanpää, Maria K.   +2 more
core  

Antibody Deficiency in Xeroderma Pigmentosum. [PDF]

J Clin Immunol
Rossmanith R, Geier CB, Gruber RW, Wolf HM.   +3 more
europepmc   +1 more source