Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypes (vol 98, pg 534, 1996)

被引：0
|
作者：
Kluwe, L
Bayer, S
Baser, ME
Hazim, W
Haase, W
Funsterer, C
Mautner, VF
机构：
来源：
HUMAN GENETICS | 1997年 / 99卷 / 02期
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：292 / 292
页数：1
相关论文
共 50 条
  • [31] Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations
    Evans, DGR
    Trueman, L
    Wallace, A
    Collins, S
    Strachan, T
    JOURNAL OF MEDICAL GENETICS, 1998, 35 (06) : 450 - 455
  • [32] Phenocopies in melanoma-prone families with germ-line CDKN2A mutations
    Helgadottir, Hildur
    Olsson, Hakan
    Tucker, Margaret A.
    Yang, Xiaohong R.
    Hoiom, Veronica
    Goldstein, Alisa M.
    GENETICS IN MEDICINE, 2018, 20 (09) : 1087 - 1090
  • [33] BRCA2 germ-line mutations in Spanish male breast cancer patients
    Díez, O
    Cortés, J
    Domènech, M
    Pericay, C
    Brunet, J
    Alonso, C
    Baiget, M
    ANNALS OF ONCOLOGY, 2000, 11 (01) : 81 - 84
  • [34] HIGH-FREQUENCY OF INACTIVATING MUTATIONS IN THE NEUROFIBROMATOSIS TYPE-2 GENE (NF2) IN PRIMARY MALIGNANT MESOTHELIOMAS
    BIANCHI, AB
    MITSUNAGA, SI
    CHENG, JQ
    KLEIN, WM
    JHANWAR, SC
    SEIZINGER, B
    KLEY, N
    KLEINSZANTO, AJP
    TESTA, JR
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1995, 92 (24) : 10854 - 10858
  • [35] Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): Evidence for more severe disease associated with truncating mutations (vol 35, 450, 1998)
    Evans, DGR
    Trueman, L
    Wallace, A
    Collins, S
    Strachan, T
    JOURNAL OF MEDICAL GENETICS, 1999, 36 (01) : 87 - 87
  • [36] The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations
    Senter, Leigha
    Clendenning, Mark
    Sotamaa, Kaisa
    Hampel, Heather
    Green, Jane
    Potter, John D.
    Lindblom, Annika
    Lagerstedt, Kristina
    Thibodeau, Stephen N.
    Lindor, Noralane M.
    Young, Joanne
    Winship, Ingrid
    Dowty, James G.
    White, Darren M.
    Hopper, John L.
    Baglietto, Laura
    Jenkins, Mark A.
    de la Chaple, Albert
    GASTROENTEROLOGY, 2008, 135 (02) : 419 - 428
  • [37] Germ line DDX41 mutations define a unique subtype of myeloid neoplasms (vol 141, pg 534, 2023)
    Makishima, H.
    Saiki, R.
    Nannya, Y.
    BLOOD, 2024, 143 (18) : 1879 - 1879
  • [38] Identification purification, and characterization of neurofibromatosis 2 (NF2) tumor suppressor protein from human erythrocyte membranes.
    Jindal, HK
    Lutchman, M
    Marfatia, SM
    Peters, LL
    Hanspal, M
    Liu, SC
    Jannatipour, M
    Rouleau, GA
    Chishti, AH
    BLOOD, 1998, 92 (10) : 6A - 6A
  • [39] CHEK2 inactivating germ-line mutations play a role in the development of testicular cancer
    Imyanitov, E.
    Ni, V.
    Ivantsov, A. O.
    Kotkova, M.
    Baskina, S.
    Ponomareva, E.
    Shelekhova, K. V.
    Romanko, A.
    Aleksakhina, S.
    Togo, A. V.
    Sokolenko, A.
    ANNALS OF ONCOLOGY, 2020, 31 : S603 - S603
  • [40] Correlation of germ-line BRCA2 mutations with aggressive prostate cancer and outcome.
    Castro, E.
    Goh, C. L.
    Olmos, D.
    Leongamornlert, D.
    Saunders, E.
    Tymrakiewicz, M.
    Mahmud, N.
    Dadaev, T.
    Govindasami, K.
    Guy, M.
    OBrien, L.
    Sawyer, E.
    Hall, A.
    Wilkinson, R.
    Kote-Jarai, Z.
    Eeles, R. A.
    JOURNAL OF CLINICAL ONCOLOGY, 2011, 29 (15)
12345