Clinical investigation of the UK cohort of FLCN mutation positive Birt-Hogg-Dube syndrome patients

被引:0
|
作者
Lim, Derek [1 ,2 ]
Woodward, E. R. [1 ,2 ]
Kirby, G. [1 ,2 ]
Macdonald, F. [3 ]
Izatt, L. [4 ]
Walker, L. [5 ]
Side, L. [5 ]
Hodgson, S. V. [6 ]
Morrison, P. J. [7 ]
Maner, E. R. [1 ,2 ]
机构
[1] Univ Birmingham, Dept Med & Mol Genet, Birmingham B15 2TT, W Midlands, England
[2] Univ Birmingham, Ctr Rare Dis & Personalised Med, Birmingham B15 2TT, W Midlands, England
[3] Birmingham Womens Hosp Edgbaston, W Midlands Reg Genet Serv, Birmingham, W Midlands, England
[4] Guys Hosp, Dept Clin Genet, London, England
[5] Churchill Hosp, Dept Clin Genet, Oxford, England
[6] St Georges Univ London, Dept Med Genet, London, England
[7] Belfast City Hosp, Dept Med Genet, Belfast BT9 7AD, Antrim, North Ireland
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:S27 / S27
页数:1
相关论文
共 50 条
  • [31] A descriptive analysis of a cohort of 300 Birt-Hogg-Dube syndrome patients with FLCN pathogenic/likely pathogenic variants
    Nielsen, Sarah
    Hatchell, Kathryn
    Nussbaum, Robert
    Abu-El-Haija, Aya
    MOLECULAR GENETICS AND METABOLISM, 2021, 132 : S35 - S36
  • [32] CLINICAL FEATURES AND GREMLIN FLCN MUTATIONS IN THE 152 UNRELATED FAMILIES WITH BIRT-HOGG-DUBE SYNDROME
    Kikkawa, Mika
    Kobayashi, Etsuko
    Seyama, Kuniaki
    Kurihara, Masatoshi
    Kataoka, Hideyuki
    Hoshika, Yoshito
    Tobino, Kazunori
    Ando, Katsutoshi
    Kunogi, Makiko
    Gunji, Yoko
    Takahashi, Kazuhisa
    RESPIROLOGY, 2013, 18 : 11 - 11
  • [33] Identification of Intragenic Deletions and Duplication in the FLCN Gene in Birt-Hogg-Dube Syndrome
    Benhammou, Jihane N.
    Vocke, Cathy D.
    Santani, Avni
    Schmidt, Laura S.
    Baba, Masaya
    Seyama, Kuniaki
    Wu, Xiaolin
    Korolevich, Susana
    Nathanson, Katherine L.
    Stolle, Catherine A.
    Linehan, W. Marston
    GENES CHROMOSOMES & CANCER, 2011, 50 (06): : 466 - 477
  • [34] Birt-Hogg-Dube syndrome in two Chinese families with mutations in the FLCN gene
    Hou, Xiaocan
    Zhou, Yuan
    Peng, Yun
    Qiu, Rong
    Xia, Kun
    Tang, Beisha
    Zhuang, Wei
    Jiang, Hong
    BMC MEDICAL GENETICS, 2018, 19
  • [35] The clinical, therapeutic and molecular genetic investigation of Birt-Hogg-Dube syndrome
    Lim, Derek
    Rehal, P. K.
    Kirby, G. A.
    MacDonald, F.
    Maher, E. R.
    JOURNAL OF MEDICAL GENETICS, 2009, 46 : S41 - S41
  • [36] A novel variant in the FLCN gene in a Chinese family with Birt-Hogg-Dube syndrome
    Miao, He
    Zhou, Yulin
    Ge, Silun
    Gu, Yufeng
    Qu, Le
    Zhou, Wenquan
    He, Haowei
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2024, 12 (07):
  • [37] A case of Birt-Hogg-Dube syndrome presenting with a single pedunculated fibrofolliculoma and a novel FLCN gene mutation
    Cesar, A.
    Baudrier, T.
    Mota, A.
    Azevedo, F.
    ACTAS DERMO-SIFILIOGRAFICAS, 2016, 107 (06): : 541 - +
  • [38] A case of Birt-Hogg-Dube syndrome
    Kim, En Hyung
    Jeong, Seon-Yong
    Kim, Hyon J.
    Kim, You Chan
    JOURNAL OF KOREAN MEDICAL SCIENCE, 2008, 23 (02) : 332 - 335
  • [39] Familial Birt-Hogg-Dube′ syndrome
    McDermott, C.
    Cullen, J.
    QJM-AN INTERNATIONAL JOURNAL OF MEDICINE, 2018, 111 (08) : 565 - 566
  • [40] A case of Birt-Hogg-Dube syndrome
    Martins, L.
    Caixeiro, M.
    Costa, C.
    Feijo, S.
    Barbara, C.
    REVISTA PORTUGUESA DE PNEUMOLOGIA, 2016, 22 (06) : 365 - 366