A MELANOMA-ASTROCYTOMA SYNDROME ASSOCIATED TO A CONSTITUTIVE MICRODUPLICATION ON 5P15.33, CONTAINING THE TERT GENE

被引:0
|
作者
Servida, M. [1 ]
Sciacca, F. [1 ]
Paterra, R. [1 ]
Finocchiaro, G. [1 ]
机构
[1] Fdn IRCCS Ist Neurol C Besta, Milan, Italy
关键词
D O I
暂无
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
P17.79
引用
收藏
页数:1
相关论文
共 36 条
  • [31] MiR-34b-5p Suppresses Melanoma Differentiation-Associated Gene 5 (MDA5) Signaling Pathway to Promote Avian Leukosis Virus Subgroup J (ALV-J)-Infected Cells Proliferaction and ALV-J Replication
    Li, Zhenhui
    Luo, Qingbin
    Xu, Haiping
    Zheng, Ming
    Abdalla, Bahareldin Ali
    Feng, Min
    Cai, Bolin
    Zhang, Xiaocui
    Nie, Qinghua
    Zhang, Xiquan
    Frontiers in Cellular and Infection Microbiology, 2017, 7
  • [32] Dermatomyositis With Dual Positive Anti-melanoma Differentiation-Associated Gene 5 and Anti-Sjogren Syndrome-Related Antigen 52 kD Antibodies: A Case Report and Literature Review on Clinical Characteristics
    Parthiban, Guru Prasad
    Arivazhagan, Sowbharnika
    Anaji, Shiva Charan
    Williams, Aaron
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2023, 15 (01)
  • [33] X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene
    Xue Jun Fu
    Kandai Nozu
    Aya Eguchi
    Yoshimi Nozu
    Naoya Morisada
    Akemi Shono
    Mariko Taniguchi-Ikeda
    Yuko Shima
    Koichi Nakanishi
    Igor Vorechovsky
    Kazumoto Iijima
    Clinical and Experimental Nephrology, 2016, 20 : 699 - 702
  • [34] A novel mutation in the SOX5 gene c.1627del; p.(Tyr543IlefsTer14) is associated to Lamb-Shaffer syndrome: a case report
    Cuenca Alcocel, Jose
    Criado Alamo, Elena
    Salvador-Ruperez, Elvira
    Ros, Nuria Goni
    Alvarez, Silvia Izquierdo
    Segura, Jose Luis Pena
    Gonzalez-Tarancon, Ricardo
    EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, 2023, 24 (01)
  • [35] X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene
    Fu, Xue Jun
    Nozu, Kandai
    Eguchi, Aya
    Nozu, Yoshimi
    Morisada, Naoya
    Shono, Akemi
    Taniguchi-Ikeda, Mariko
    Shima, Yuko
    Nakanishi, Koichi
    Vorechovsky, Igor
    Iijima, Kazumoto
    CLINICAL AND EXPERIMENTAL NEPHROLOGY, 2016, 20 (05) : 699 - 702
  • [36] Pyrimidine-5′-nucleotidase Campinas, a new mutation (p.R56G) in the NT5C3 gene associated with pyrimidine-5′-nucleotidase type I deficiency and influence of Gilbert's Syndrome on clinical expression
    dos Santos, Andrey
    Cordeiro Dantas, Larissa Elizabeth
    Traina, Fabiola
    de Albuquerque, Dulcineia Martins
    Chaim, Elinton Adami
    Saad, Sara T. Olalla
    BLOOD CELLS MOLECULES AND DISEASES, 2014, 53 (04) : 246 - 252