Genotype-phenotype correlations and treatment innovation of neurofibromatosis type 1 (NF1): Current understanding and perspective

被引:1
|
作者
Zhu, Beiyao [1 ,2 ,3 ]
Wang, Wei [1 ,2 ,3 ]
Gu, Yihui [1 ,2 ,3 ]
Wei, Chengjiang [1 ,2 ,3 ]
Wang, Zhichao [1 ,2 ,3 ]
Li, Qingfeng [1 ,2 ,3 ]
机构
[1] Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Sch Med, Dept Plast & Reconstruct Surg, 639 Zhizaoju Rd, Shanghai 200011, Peoples R China
[2] Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Neurofibromatosis Type Ctr 1, Sch Med, Shanghai 200011, Peoples R China
[3] Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Lab Neurofibromatosis Type Res 1, Sch Med, Shanghai 200011, Peoples R China
基金
上海市自然科学基金; 中国国家自然科学基金;
关键词
ADULTS;
D O I
10.1097/CM9.0000000000003203
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:1639 / 1641
页数:3
相关论文
共 50 条
  • [31] Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions
    Kehrer-Sawatzki, Hildegard
    Cooper, David N.
    HUMAN GENETICS, 2021, 140 (12) : 1635 - 1649
  • [32] Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions
    Kehrer-Sawatzki, Hildegard
    Wahllaender, Ute
    Cooper, David N.
    Mautner, Victor-Felix
    GENES, 2021, 12 (10)
  • [33] GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype
    Bahuau, M
    Pelet, A
    Vidaud, D
    Lamireau, T
    Le Bail, B
    Munnich, A
    Vidaud, M
    Lyonnet, S
    Lacombe, D
    JOURNAL OF MEDICAL GENETICS, 2001, 38 (09) : 638 - 643
  • [34] Seizures in neurofibromatosis - Type 1 (NF1)
    Kulkantrakorn, K
    Geller, TJ
    NEUROLOGY, 1997, 48 (03) : 6007 - 6007
  • [35] The role of NF1 pseudogenes in the development of neurofibromatosis type 1 (NF1)
    Luijten, M
    Bijleveld, EH
    Westerveld, A
    Hulsebos, TJM
    EUROPEAN JOURNAL OF HUMAN GENETICS, 1998, 6 : 146 - 146
  • [36] Osteoporosis in neurofibromatosis type 1 (NF1).
    Poyhonen, M
    Heikkinen, J
    Väänänen, K
    Peltonen, J
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 124 - 124
  • [37] Detection of Novel NF1 Variants with Next-Generation DNA Sequencing Technology and Genotype-Phenotype Characteristics of Neurofibromatosis
    Kiraz, Aslihan
    Gumus, Hakan
    Balta, Burhan
    Erdogan, Murat
    Guven, Ahmet Sami
    Savranlar, Ahmet
    Celik, Serkan Fazli
    Kumandas, Sefer
    Karaman, Zehra Filiz
    Ozdemir, Sevda Yesim
    Gumus, Ummu Gulsum Ozgul
    Bayram, Nurettin
    Per, Huseyin
    JOURNAL OF CLINICAL PRACTICE AND RESEARCH, 2023, 45 (02): : 152 - 158
  • [38] In search of the Holy Grail:: NF1 mutation analysis and genotype-phenotype correlation
    Viskochil, D
    GENETICS IN MEDICINE, 1999, 1 (06) : 245 - 247
  • [39] Mutation spectrum of the NF1 gene and genotype-phenotype correlations in Turkish patients: Seventeen novel pathogenic variants
    Solmaz, Asli Ece
    Isik, Esra
    Atik, Tahir
    Ozkinay, Ferda
    Onay, Huseyin
    CLINICAL NEUROLOGY AND NEUROSURGERY, 2021, 208
  • [40] Genotype-Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of NF1 Exon 24 [19a]
    Chen, Yunjia
    Fu, Yulong
    Koczkowska, Magdalena
    Callens, Tom
    Gomes, Alicia
    Liu, Jian
    Bradley, William
    Brown, Bryce
    Shaw, Brandon
    D'Agostino, Daniela
    Fu, Chuanhua
    Wallis, Deeann
    CANCERS, 2024, 16 (13)