PKD1/TSC2 contiguous gene deletion syndrome

被引：0
|
作者：
Sundaram, Madhivanan [1 ]
Kookana, Anil [1 ]
Duncan, Henry [1 ]
Mathew, Ravi [1 ]
机构：
[1] Royal Darwin Hosp, Dept Med, Div Nephrol, Tiwi, NT, Australia
来源：
NEPHROLOGY | 2017年 / 22卷 / 08期
关键词：
D O I：
10.1111/nep.12847
中图分类号：
R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：656 / 657
页数：2
相关论文
共 50 条
  • [41] Concurrent Reduced Expression of Contiguous PKD1, TSC2 and NTHL1 Leading to Kidney Diseases and Multiple Diverse Renal Cancers
    Meguro, Satoru
    Koguchi, Tomoyuki
    Hakozaki, Yusuke
    Onagi, Akifumi
    Matsuoka, Kanako
    Hoshi, Seiji
    Hata, Junya
    Sato, Yuichi
    Akaihata, Hidenori
    Kataoka, Masao
    Ogawa, Soichiro
    Kojima, Yoshiyuki
    CANCER GENOMICS & PROTEOMICS, 2023, 20 (01) : 40 - 50
  • [42] The role of FISH in investigating deletions of the TSC2 and PKD1 gene region at chromosome 16p13.3.
    Thompson, PW
    Sampson, JR
    Maheshwar, MM
    Aspinwall, P
    Cheadle, J
    Ravine, D
    Roy, S
    Haan, E
    Bernstein, J
    Harris, PC
    CYTOGENETICS AND CELL GENETICS, 1997, 77 (1-2): : W11 - W11
  • [43] A case of TSC2-PKD1 contiguous deletion syndrome: Clinical features and effective treatment for epilepsy
    Pan, Xiaoyu
    Yang, Chengqing
    Ma, Shaochun
    Wang, Weihong
    Liu, Peipei
    Guo, Ya
    Liu, Yedan
    Song, Jie
    Wu, Sifei
    Yi, Liping
    Wei, Wei
    Chen, Zongbo
    INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, 2021, 81 (02) : 191 - 199
  • [44] TSC2/PKD1邻接基因综合征一例报告
    陈美元
    肖荆
    杜源
    沈洪亮
    佟昕
    田野
    中华泌尿外科杂志, 2019, (09) : 703 - 705
  • [45] TSC2/PKD1邻接基因综合征临床表型与基因分析
    梅道启
    梅世月
    王莉
    王媛
    陈国洪
    高超
    马婷婷
    闫佳勇
    董世杰
    中华神经科杂志, 2022, 55 (10) : 1135 - 1142
  • [46] Generation of iPSC from peripheral blood mononuclear cells obtained from a patient with TSC2-PKD1 contiguous gene deletion syndrome
    Li, Jian
    Shang, Shunlai
    Wang, Tao
    Fu, Bo
    Wang, Peng
    Cai, Guangyan
    Chen, Xiangmei
    Li, Qinggang
    STEM CELL RESEARCH, 2021, 51
  • [47] Phenytoin-associated severe hypocalcemia with seizures in a patient with a TSC2-PKD1 contiguous gene syndrome
    Nseir, Ghaleb
    Golshayan, Dela
    Barbey, Frederic
    RENAL FAILURE, 2013, 35 (06) : 866 - 868
  • [48] Chromosomal assignment of canine TSC2, PKD1 and CLN3 genes by radiation hybrid- and linkage analyses
    Jónasdóttir, TJ
    Mellersh, CS
    Moe, L
    Vignaux, F
    Ostrander, EA
    Lingaas, F
    ANIMAL GENETICS, 2000, 31 (02) : 123 - 126
  • [49] Tuberous sclerosis complex with polycystic kidney disease of the adult type: the TSC2/ADPKD1 contiguous gene syndrome
    Bisceglia, Michele
    Galliani, Carlos
    Carosi, Illuminato
    Simeone, Anna
    Ben-Dor, David
    INTERNATIONAL JOURNAL OF SURGICAL PATHOLOGY, 2008, 16 (04) : 375 - 385
  • [50] The Importance of Genetic Testing in the Differential Diagnosis of Atypical TSC2-PKD1 Contiguous Gene Syndrome-Case Series
    Orosz, Petronella
    Kollak, Zita
    Petho, Akos
    Fogarasi, Andras
    Reusz, Gyorgy
    Hadzsiev, Kinga
    Szabo, Tamas
    CHILDREN-BASEL, 2023, 10 (03):
12345