Clinical and Molecular Characterization of Fumarate Hydratase (FH) germline carriers in Omani families.

被引:0
|
作者
Alsaegh, Abeer [1 ]
Abdulrahim, Reem [1 ]
Van Wyk, Chantel [2 ]
Crous, Ilse [2 ]
Al Kiyumi, Sara [2 ]
Al Balushi, Amira [2 ]
Al Malki, Suad [2 ]
Al Muhairi, Bushra [2 ]
机构
[1] Sultan Qaboos Comprehens Canc Care & Res Ctr, Genom, Seeb, Oman
[2] Sultan Qaboos Comprehens Canc Care & Res Ctr, Seeb, Oman
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
P01.106.A
引用
收藏
页码:1268 / 1268
页数:1
相关论文
共 50 条
  • [1] Germline mutations in fumarate hydratase (FH) do not predispose to prostate cancer
    S Bevan
    S M Edwards
    A Ardern Jones
    A Dowe
    C Southgate
    D Dearnaley
    D F Easton
    R S Houlston
    R Eeles
    Prostate Cancer and Prostatic Diseases, 2003, 6 : 12 - 14
  • [2] Germline mutations in fumarate hydratase (FH) do not predispose to prostate cancer
    Bevan, S
    Edwards, SM
    Jones, AA
    Dowe, A
    Southgate, C
    Dearnaley, D
    Easton, DF
    Houlston, RS
    Eeles, RA
    PROSTATE CANCER AND PROSTATIC DISEASES, 2003, 6 (01) : 12 - 14
  • [3] Molecular imaging phenotyping of germline fumarate hydratase (FH) pathogenic variant-positive metastatic pheochromocytoma
    Imperiale, Alessio
    Pepponi, Miriam
    Poterszman, Nathan
    Jha, Abhishek
    Collen, Cedric
    Brumaru, Daniel
    Chenard, Marie-Pierre
    Taieb, David
    Pacak, Karel
    Goichot, Bernard
    EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING, 2023, 50 (10) : 3155 - 3156
  • [4] Molecular imaging phenotyping of germline fumarate hydratase (FH) pathogenic variant-positive metastatic pheochromocytoma
    Alessio Imperiale
    Miriam Pepponi
    Nathan Poterszman
    Abhishek Jha
    Cedric Collen
    Daniel Brumaru
    Marie-Pierre Chenard
    David Taïeb
    Karel Pacak
    Bernard Goichot
    European Journal of Nuclear Medicine and Molecular Imaging, 2023, 50 : 3155 - 3156
  • [5] Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata
    Martinez-Mir, A
    Glaser, B
    Chuang, GS
    Horev, L
    Waldman, A
    Engler, DE
    Gordon, D
    Spelman, LJ
    Hatzibougias, I
    Green, J
    Christiano, AM
    Zlotogorski, A
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2003, 121 (04) : 741 - 744
  • [6] A Clinicopathological and Molecular Analysis of Fumarate Hydratase (FH)-deficient Renal Cell Carcinomas with Heterogeneous Loss of FH Expression
    Anderson, William J.
    Tsai, Harrison K.
    Sholl, Lynette M.
    Hirsch, Michelle S.
    INTERNATIONAL JOURNAL OF SURGICAL PATHOLOGY, 2022, 30 (06) : 606 - 615
  • [7] Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis
    Smit, D. L.
    Mensenkamp, A. R.
    Badeloe, S.
    Breuning, M. H.
    Simon, M. E. H.
    van Spaendonck, K. Y.
    Aalfs, C. M.
    Post, J. G.
    Shanley, S.
    Krapels, I. P. C.
    Hoefsloot, L. H.
    van Moorselaar, R. J. A.
    Starink, T. M.
    Bayley, J-P
    Frank, J.
    van Steensel, M. A. M.
    Menko, F. H.
    CLINICAL GENETICS, 2011, 79 (01) : 49 - 59
  • [8] Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic
    Ouchene, Lydia
    Wilde, Blake
    Chan-Pak-Choon, Fiona
    Camacho Valenzuela, Jose
    Brimo, Fadi
    Witkowski, Leora
    Christofk, Heather
    Domecq, Celine
    Fu, Lili
    Weber, Evan
    Lemieux Anglin, Brianna
    Netchiporouk, Elena
    Foulkes, William D.
    GENES CHROMOSOMES & CANCER, 2024, 63 (02):
  • [9] Molecular characterization of potato fumarate hydratase and functional expression in Escherichia coli
    Nast, G
    MullerRober, B
    PLANT PHYSIOLOGY, 1996, 112 (03) : 1219 - 1227
  • [10] Clinical characterization of 125 French lupus multiplex families.
    Michel, M
    Meyer, O
    Francès, C
    Michel, C
    Johannet, C
    Arfi, S
    Tournier-Lasserve, E
    Piette, JC
    ARTHRITIS AND RHEUMATISM, 1998, 41 (09): : S285 - S285