Adult presentation of Aqueduct stenosis in Neurofibromatosis type one (NF1)

被引：0
|
作者：
Rourke, D
Side, L
Huson, S
机构：
[1] Churchill Hosp, Oxford, England
[2] St Marys Hosp, Reg Genet Serv, Manchester, Lancs, England
来源：
JOURNAL OF MEDICAL GENETICS | 2005年 / 42卷
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：S53 / S53
页数：1
相关论文
共 50 条
  • [21] Enigmatic complexity in neurofibromatosis type 1 (NF1):: three independent pathological mutations in the NF1 Gene in an NF1 family
    Upadhyaya, M
    Majounie, E
    Thompson, P
    Han, S
    Consoli, C
    Cordeiro, I
    Cooper, D
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 526 - 526
  • [22] The management of neurofibromatosis type 1 (NF1) in children and adolescents
    Kerashvili, Nino
    Gutmann, David H.
    EXPERT REVIEW OF NEUROTHERAPEUTICS, 2024, 24 (04) : 409 - 420
  • [23] Bony orbital morphology in neurofibromatosis type 1 (NF1)
    Kaste, SC
    Pivnick, EK
    JOURNAL OF MEDICAL GENETICS, 1998, 35 (08) : 628 - 631
  • [24] Vertical transmission of segmental neurofibromatosis type 1 (NF1)
    Side, L
    Ruggieri, M
    Ferner, R
    Huson, SM
    JOURNAL OF MEDICAL GENETICS, 2003, 40 : S36 - S36
  • [25] An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion
    Praxedes, L. A.
    Pereira, F. M.
    Mazzeu, J. F.
    Costa, S. S.
    Bertola, D. R.
    Kim, C. A.
    Vianna-Morgante, A. M.
    Otto, P. A.
    MOLECULAR SYNDROMOLOGY, 2010, 1 (03) : 133 - 135
  • [26] Orbitotemporal facial involvement in type 1 neurofibromatosis (NF1)
    Rilliet, B.
    Pittet, B.
    Montandon, D.
    Narata, A. -P.
    de Ribaupierre, S.
    Schils, F.
    Boscherini, D.
    Di Rocco, C.
    Ducrey, N.
    NEUROCHIRURGIE, 2010, 56 (2-3) : 257 - 270
  • [27] LINKAGE ANALYSIS IN NEUROFIBROMATOSIS TYPE-1 (NF1)
    MATHEW, CGP
    THORPE, K
    WALLIS, C
    SLATER, C
    PONDER, BAJ
    JOURNAL OF MEDICAL GENETICS, 1988, 25 (09) : 645 - 645
  • [28] The role of the neurofibromatosis type 1 (NF1) gene in tumorigenesis
    Upadhyaya, M
    BRAIN PATHOLOGY, 2000, 10 (04) : 599 - 600
  • [29] Pulmonary sarcoma complicated with neurofibromatosis type 1 (NF1)
    Abe, Y
    Hatanaka, H
    Kamiya, T
    Yamazaki, H
    Kijima, H
    Inoue, H
    Ueyama, Y
    Nakamura, M
    ANTICANCER RESEARCH, 2003, 23 (1B) : 613 - 616
  • [30] Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland
    Poyhonen, M
    Kytöla, S
    Leisti, J
    JOURNAL OF MEDICAL GENETICS, 2000, 37 (08) : 632 - 636
12345