Role of Molecular Genetic Factors in Formation of the Clinical Type of Neurofibromatosis Type 2

被引：0
|
作者：
K. O. Karandasheva
E. S. Makashova
F. A. Ageeva
K. I. Anoshkin
P. A. Sparber
A. O. Borovikov
P. A. Vasiluev
M. S. Pashchenko
A. S. Tanas
V. V. Strelnikov
机构：
[1] Academician Bochkov Research Centre for Medical Genetics,
[2] Burdenko National Medical Research Center of Neurosurgery,undefined
[3] Loginov Moscow Clinical Scientific Center,undefined
来源：
Russian Journal of Genetics | 2024年 / 60卷
关键词：
neurofibromatosis type 2; NF2; genotype-phenotype correlations;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：210 / 219
页数：9
相关论文
共 50 条
  • [1] Role of Molecular Genetic Factors in Formation of the Clinical Type of Neurofibromatosis Type 2
    Karandasheva, K. O.
    Makashova, E. S.
    Ageeva, F. A.
    Anoshkin, K. I.
    Sparber, P. A.
    Borovikov, A. O.
    Vasiluev, P. A.
    Pashchenko, M. S.
    Tanas, A. S.
    Strelnikov, V. V.
    RUSSIAN JOURNAL OF GENETICS, 2024, 60 (02) : 210 - 219
  • [2] Neurofibromatosis type 2. Clinical features and genetic profile
    Kluwe, L.
    Mautner, V-F.
    MEDIZINISCHE GENETIK, 2009, 21 (04) : 532 - 538
  • [3] Type 2 neurofibromatosis: Intergenerational differences in genetic and clinical expression
    Drouet, A.
    Le Moigne, F.
    Salame, D.
    Quesnel, L.
    Motolese, C.
    des Portes, V.
    Guilloton, L.
    Pinson, S.
    ARCHIVES DE PEDIATRIE, 2014, 21 (11): : 1233 - 1240
  • [4] Clinical manifestations and genetic analysis of a family with neurofibromatosis type 2
    Wang, Victoria Y.
    Liu, Te-Yi
    Fang, Te-Yung
    Chen, Ya-Hui
    Huang, Chi-Jung
    Wang, Pa-Chun
    ACTA OTO-LARYNGOLOGICA, 2022, 142 (01) : 36 - 42
  • [5] Neurofibromatosis type 2 in the elderly population: Clinical and molecular features
    Goutagny, Stephane
    Bah, Alpha B.
    Parfait, Beatrice
    Sterkers, Olivier
    Kalamarides, Michel
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161A (04) : 667 - 670
  • [6] Neurofibromatosis type 2 (NF2): A clinical and molecular review
    DGareth R Evans
    Orphanet Journal of Rare Diseases, 4
  • [7] Neurofibromatosis type 2 (NF2): A clinical and molecular review
    Evans, D. Gareth R.
    ORPHANET JOURNAL OF RARE DISEASES, 2009, 4
  • [8] Genetic and clinical mosaicism in a patient with neurofibromatosis type 1
    Ina Vandenbroucke
    Remco van Doorn
    Tom Callens
    Jan M. Cobben
    Theo M. Starink
    Ludwine Messiaen
    Human Genetics, 2004, 114 : 284 - 290
  • [9] Clinical application of genetic polymorphism in neurofibromatosis type 1
    Clementi, M
    Boni, S
    Mammi, I
    Favarato, M
    Tenconi, R
    ANNALES DE GENETIQUE, 1996, 39 (02): : 92 - 96
  • [10] Genetic and clinical mosaicism in a patient with neurofibromatosis type 1
    Vandenbroucke, I
    van Doorn, R
    Callens, T
    Cobben, JM
    Starink, TM
    Messiaen, L
    HUMAN GENETICS, 2004, 114 (03) : 284 - 290
12345