Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients

被引:0
|
作者
Marc Bennedbæk
Maria Rossing
Åse K. Rasmussen
Anne-Marie Gerdes
Anne-Bine Skytte
Uffe B. Jensen
Finn C. Nielsen
Thomas v. O. Hansen
机构
[1] University of Copenhagen,Center for Genomic Medicine, Rigshospitalet
[2] University of Copenhagen,Department of Medical Endocrinology, Rigshospitalet
[3] University of Copenhagen,Department of Clinical Genetics, Rigshospitalet
[4] Aarhus University Hospital,Department of Clinical Genetics
关键词
Classification; Germline; Mutation; Paraganglioma; Pheochromocytoma;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 50 条
  • [21] Somatic Mutation Analysis of the SDHB, SDHC, SDHD, and RET Genes in the Clinical Assessment of Sporadic and Hereditary Pheochromocytoma
    Weber, Alexander
    Hoffmann, Michael M.
    Neumann, Hartmut P. H.
    Erlic, Zoran
    HORMONES & CANCER, 2012, 3 (04): : 187 - 192
  • [22] Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma
    Cascon, A
    Ruiz-Llorente, S
    Cebrian, A
    Telleria, D
    Rivero, JC
    Diez, JJ
    Lopez-Ibarra, PJ
    Jaunsolo, MA
    Benitez, J
    Robledo, M
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 (08) : 457 - 461
  • [23] Somatic Mutation Analysis of the SDHB, SDHC, SDHD, and RET Genes in the Clinical Assessment of Sporadic and Hereditary Pheochromocytoma
    Alexander Weber
    Michael M. Hoffmann
    Hartmut P. H. Neumann
    Zoran Erlic
    Hormones and Cancer, 2012, 3 : 187 - 192
  • [24] Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma
    McWhinney, SR
    Pilarski, RT
    Forrester, SR
    Schneider, MC
    Sarquis, MM
    Dias, EP
    Eng, C
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2004, 89 (11): : 5694 - 5699
  • [25] Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma
    Alberto Cascon
    Sergio Ruiz-Llorente
    Arancha Cebrian
    Dolores Telleria
    Jose Carlos Rivero
    Juan Jose Diez
    Pablo J Lopez-Ibarra
    Miguel Angel Jaunsolo
    Javier Benitez
    Mercedes Robledo
    European Journal of Human Genetics, 2002, 10 : 457 - 461
  • [26] Novel germline mutations in the SDHB and SDHD genes in Japanese pheochromocytomas
    Isobe, Kazumasa
    Minowada, Shigeru
    Tatsuno, Ichiro
    Suzukawa, Kazumi
    Nissato, Sumiko
    Nanmoku, Toru
    Hara, Hisato
    Yashiro, Toru
    Kawakami, Yasushi
    Takekoshi, Kazuhiro
    HORMONE RESEARCH, 2007, 68 (02) : 68 - 71
  • [27] Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma
    Yonamine, Masato
    Wasano, Koichiro
    Aita, Yuichi
    Sugasawa, Takehito
    Takahashi, Katsutoshi
    Kawakami, Yasushi
    Shimano, Hitoshi
    Nishiyama, Hiroyuki
    Hara, Hisato
    Naruse, Mitsuhide
    Okamoto, Takahiro
    Matsuda, Tadashi
    Kosugi, Shinji
    Horiguchi, Kazuhiko
    Tanabe, Akiyo
    Watanabe, Atsushi
    Kimura, Noriko
    Nakamura, Eijiro
    Sakurai, Akihiro
    Shiga, Kiyoto
    Takekoshi, Kazuhiro
    CANCERS, 2021, 13 (16)
  • [28] Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome
    Patocs, Attila
    Lendvai, Nikoletta K.
    Butz, Henriett
    Liko, Istvan
    Sapi, Zoltan
    Szucs, Nikolette
    Toth, Geza
    Grolmusz, Vince K.
    Igaz, Peter
    Toth, Miklos
    Racz, Karoly
    PATHOLOGY & ONCOLOGY RESEARCH, 2016, 22 (04) : 673 - 679
  • [29] Denaturing High Performance Liquid Chromatography Detection of SDHB, SDHD, and VHL Germline Mutations in Pheochromocytoma
    Meyer-Rochow, Goswin Y.
    Smith, Janine M.
    Richardson, Anne-Louise
    Marsh, Deborah J.
    Sidhu, Stan B.
    Robinson, Bruce G.
    Benn, Diana E.
    JOURNAL OF SURGICAL RESEARCH, 2009, 157 (01) : 55 - 62
  • [30] Clinical and molecular genetics of patients with the Carney–Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD
    Barbara Pasini
    Sarah R McWhinney
    Thalia Bei
    Ludmila Matyakhina
    Sotirios Stergiopoulos
    Michael Muchow
    Sosipatros A Boikos
    Barbara Ferrando
    Karel Pacak
    Guillaume Assie
    Eric Baudin
    Agnes Chompret
    Jay W Ellison
    Jean-Jacques Briere
    Pierre Rustin
    Anne-Paule Gimenez-Roqueplo
    Charis Eng
    J Aidan Carney
    Constantine A Stratakis
    European Journal of Human Genetics, 2008, 16 : 79 - 88