IDENTIFICATION AND PHENOTYPE OF 5 NEUROFIBROMATOSIS TYPE-1 PATIENTS WITH LARGE DELETIONS SPANNING THE NF1 GENE

被引:0
|
作者
STEPHENS, K
KAYES, LM
BURKE, W
RICCARDI, VM
BENNETT, R
EHRLICH, P
RUBENSTEIN, AE
机构
[1] UNIV WASHINGTON,SCH MED,SEATTLE,WA 98195
[2] NEUROFIBROMAT INST,PASADENA,CA
[3] CUNY MT SINAI SCH MED,NEW YORK,NY 10029
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:1234 / 1234
页数:1
相关论文
共 50 条
  • [41] Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1
    Bendova, Sarka
    Krepelova, Anna
    Petrak, Borivoj
    Kinstova, Lenka
    Musova, Zuzana
    Rausova, Eva
    Marikova, Latana
    [J]. JOURNAL OF MOLECULAR NEUROSCIENCE, 2007, 31 (03) : 273 - 279
  • [42] Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1
    Sarka Bendova
    Anna Krepelova
    Borivoj Petrak
    Lenka Kinstova
    Zuzana Musova
    Eva Rausova
    Tatana Marikova
    [J]. Journal of Molecular Neuroscience, 2007, 31 (3) : 273 - 279
  • [43] PLEXIFORM NEUROFIBROMAS IN NEUROFIBROMATOSIS TYPE-1 (NF1) - THE OUTCOME OF SURGERY
    SUJANSKY, E
    CONRADI, S
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 278 - 278
  • [44] Recurrent NF1 gene mutation in a patient with oligosymptomatic neurofibromatosis type 1 (NF1)
    Buske, A
    Gewies, A
    Lehmann, R
    Rüther, K
    Algermissen, B
    Nürnberg, P
    Tinschert, S
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1999, 86 (04): : 328 - 330
  • [45] 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):
  • [46] Do NF1 gene deletions result in a characteristic phenotype?
    Tonsgard, JH
    Yelavarthi, KK
    Cushner, S
    Short, MP
    Lindgren, V
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1997, 73 (01): : 80 - 86
  • [47] 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)
  • [48] RESULTS OF THE COLLABORATIVE STUDY ON NEUROFIBROMATOSIS TYPE-1 (NF1) IN ITALY
    ALVISI, P
    BALESTRI, P
    BARTALINI, G
    BERARDI, A
    BERGAMASCHI, G
    BIANCHI, E
    BONA, F
    BENINI, P
    CALISTRI, L
    CALVIERI, S
    CASADEI, G
    CERA, R
    MAINARDI, PC
    DELGIUDICE, E
    DECOSMO, L
    DURANTE, A
    FAGGIOLI, R
    FERRARI, R
    FOIS, A
    FRATTEGIANI, A
    GABRIELE, G
    GALLI, V
    GAMBARETTO, G
    IAFUSCO, F
    LABUONORA, I
    LANZA, G
    LECCHINI, P
    LOI, M
    LOIACONO, G
    LUNGAROTTI, MS
    MADON, E
    MANCINI, L
    MARNI, E
    MIGNOZZI, M
    NURCHI, AM
    PALMIERI, C
    PALLOTTA, R
    PANNUTI, F
    PARIGI, GB
    PATAVINO, M
    PERRONE, L
    PIATTELLA, L
    PISTONE, FM
    POTOSCHNIG, C
    PRESTI, A
    RAMENGHI, U
    RIVA, E
    ROSATI, C
    ROSSI, LN
    SALANI, M
    [J]. RIVISTA ITALIANA DI PEDIATRIA-ITALIAN JOURNAL OF PEDIATRICS, 1993, 19 (02): : 138 - 151
  • [49] The role of the neurofibromatosis type 1 (NF1) gene in tumorigenesis
    Upadhyaya, M
    [J]. BRAIN PATHOLOGY, 2000, 10 (04) : 599 - 600
  • [50] SPECIFIC EXPRESSION OF THE NEUROFIBROMATOSIS TYPE-1 GENE (NF1) IN THE HAMSTER SCHWANN-CELL
    NAKAMURA, T
    NEMOTO, T
    ARAI, M
    YAMAZAKI, Y
    KASUGA, T
    GUTMANN, DH
    COLLINS, FS
    ISHIKAWA, T
    [J]. AMERICAN JOURNAL OF PATHOLOGY, 1994, 144 (03): : 549 - 555