DELETIONS SPANNING THE NEUROFIBROMATOSIS TYPE-1 GENE - ON THE VERGE OF GENOTYPE-PHENOTYPE CORRELATIONS IN NF1

被引:0
|
作者
CROSSEN, MH
VANDEREST, MN
DEGOEDEBOLDER, A
BREUNING, MH
VANASPEREN, CJ
BRESLAUSIDERIUS, EJ
HALLEY, DJJ
VANDENOUWELAND, AMW
NIERMEIJER, MF
机构
[1] ERASMUS UNIV ROTTERDAM,DEPT CLIN GENET,3000 DR ROTTERDAM,NETHERLANDS
[2] ERASMUS UNIV ROTTERDAM,DEPT PAEDIAT,ROTTERDAM,NETHERLANDS
[3] UNIV HOSP SOPHIA DIJKZIGT,ROTTERDAM,NETHERLANDS
[4] UNIV AMSTERDAM,ACAD MED CTR,DEPT CLIN GENET,1105 AZ AMSTERDAM,NETHERLANDS
[5] CLIN GENET CTR,3501 CA UTRECHT,NETHERLANDS
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:1371 / 1371
页数:1
相关论文
共 50 条
  • [1] IDENTIFICATION AND PHENOTYPE OF 5 NEUROFIBROMATOSIS TYPE-1 PATIENTS WITH LARGE DELETIONS SPANNING THE NF1 GENE
    STEPHENS, K
    KAYES, LM
    BURKE, W
    RICCARDI, VM
    BENNETT, R
    EHRLICH, P
    RUBENSTEIN, AE
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 1234 - 1234
  • [2] Deletions spanning the neurofibromatosis type 1 gene: Implications for genotype-phenotype correlation in neurofibromatosis type 1?
    Cnossen, MH
    vanderEst, MN
    Breuning, MH
    vanAsperen, CJ
    BreslauSiderius, EJ
    vanderPloeg, AT
    deGoedeBolder, A
    vandenOuweland, AMW
    Halley, DJJ
    Niermeijer, MF
    [J]. HUMAN MUTATION, 1997, 9 (05) : 458 - 464
  • [3] Genotype-Phenotype Correlations in Neurofibromatosis Type 1: identification of novel and recurrent NF1 gene variants
    Dell'Aquila, M.
    Napolitano, F.
    Terracciano, C.
    Franzese, G.
    Colavito, D.
    Sampaoli, S.
    Melone, M.
    [J]. EUROPEAN JOURNAL OF NEUROLOGY, 2022, 29 : 355 - 355
  • [4] Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype
    Napolitano, Filomena
    Dell'Aquila, Milena
    Terracciano, Chiara
    Franzese, Giuseppina
    Gentile, Maria Teresa
    Piluso, Giulio
    Santoro, Claudia
    Colavito, Davide
    Patane, Anna
    De Blasiis, Paolo
    Sampaolo, Simone
    Paladino, Simona
    Melone, Mariarosa Anna Beatrice
    [J]. GENES, 2022, 13 (07)
  • [5] Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population
    Jia Zhang
    Hanxing Tong
    Xi’an Fu
    Yong Zhang
    Jiangbo Liu
    Ruhong Cheng
    Jianying Liang
    Jie Peng
    Zhonghui Sun
    Hong Liu
    Furen Zhang
    Weiqi Lu
    Ming Li
    Zhirong Yao
    [J]. Scientific Reports, 5
  • [6] Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population
    Zhang, Jia
    Tong, Hanxing
    Fu, Xi'an
    Zhang, Yong
    Liu, Jiangbo
    Cheng, Ruhong
    Liang, Jianying
    Peng, Jie
    Sun, Zhonghui
    Liu, Hong
    Zhang, Furen
    Lu, Weiqi
    Li, Ming
    Yao, Zhirong
    [J]. SCIENTIFIC REPORTS, 2015, 5
  • [7] Genotype-phenotype correlations in five patients with large NF1 deletions
    Alves, Joao Rodrigues
    Machado, Catarina
    Dupont, Juliette
    Silveira-Santos, Rosario
    Sousa, Ana
    Moldovan, Oana
    Sousa, Ana Berta
    [J]. MEDICINE, 2019, 98 (26)
  • [8] Genotype-phenotype correlations and treatment innovation of neurofibromatosis type 1 (NF1): Current understanding and perspective
    Zhu, Beiyao
    Wang, Wei
    Gu, Yihui
    Wei, Chengjiang
    Wang, Zhichao
    Li, Qingfeng
    [J]. CHINESE MEDICAL JOURNAL, 2024, 137 (14) : 1639 - 1641
  • [9] BENIGN NEUROFIBROMAS IN TYPE-1 NEUROFIBROMATOSIS (NF1) SHOW SOMATIC DELETIONS OF THE NF1 GENE
    COLMAN, SD
    WILLIAMS, CA
    WALLACE, MR
    [J]. NATURE GENETICS, 1995, 11 (01) : 90 - 92
  • [10] Genotype-phenotype correlation in neurofibromatosis type-1: NF1 whole gene deletions lead to high tumor-burden and increased tumor-growth
    Well, Lennart
    Doebel, Kimberly
    Kluwe, Lan
    Bannas, Peter
    Farschtschi, Said
    Adam, Gerhard
    Mautner, Victor-Felix
    Salamon, Johannes
    [J]. PLOS GENETICS, 2021, 17 (05):