PATERNAL ORIGIN OF NEW MUTATION IN VONRECKLINGHAUSEN NEUROFIBROMATOSIS (NF1)

被引:0
|
作者
UPADHYAYA, M [1 ]
FRYER, A [1 ]
BROADHEAD, W [1 ]
HUSON, S [1 ]
HARPER, PS [1 ]
机构
[1] UNIV COLL CARDIFF,INST MED GENET,CARDIFF CF4 4XN,S GLAM,WALES
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:209 / 209
页数:1
相关论文
共 50 条
  • [1] PATERNAL ORIGIN OF NEW MUTATIONS IN VONRECKLINGHAUSEN NEUROFIBROMATOSIS
    JADAYEL, D
    FAIN, P
    UPADHYAYA, M
    PONDER, MA
    HUSON, SM
    CAREY, J
    FRYER, A
    MATHEW, CGP
    BARKER, DF
    PONDER, BAJ
    NATURE, 1990, 343 (6258) : 558 - 559
  • [2] MOLECULAR STUDY IN VONRECKLINGHAUSEN NEUROFIBROMATOSIS (NF1)
    VIVARELLI, R
    BARTALINI, G
    CALISTRI, L
    BALESTRI, P
    FIGUS, A
    PIRASTU, M
    CAO, A
    FOIS, A
    CHILDS NERVOUS SYSTEM, 1991, 7 (02) : 98 - 99
  • [3] PARENTAL INFLUENCES ON THE ORIGIN AND EXPRESSION THE VONRECKLINGHAUSEN NEUROFIBROMATOSIS (NF) MUTATION
    RICCARDI, VM
    DOBSON, CE
    MARTIN, MC
    CHAKRABORTY, R
    BONTKE, C
    AMERICAN JOURNAL OF HUMAN GENETICS, 1983, 35 (06) : A114 - A114
  • [4] THE INCIDENCE OF DEVELOPMENTAL-DISABILITIES IN INFANTS AND TODDLERS WITH VONRECKLINGHAUSEN NEUROFIBROMATOSIS (NF1)
    SAMANGOSPROUSE, CA
    ROSENBAUM, KN
    RODNAN, LA
    SAAL, HM
    STERN, HJ
    ROSENQUIST, GC
    PEDIATRIC RESEARCH, 1989, 25 (04) : A144 - A144
  • [5] A novel neurofibromatosis type 1 (NF1) mutation in a patient with NF1 and pheochromocytoma
    Seo, Yoorim
    Jeong, Yeonjeong
    Kim, Dong Yoon
    Choi, Kyueun
    Kim, Eun Sook
    Moon, Sung Dae
    Han, Je Ho
    KOREAN JOURNAL OF INTERNAL MEDICINE, 2018, 33 (01) : 214 - 217
  • [6] Mutation screening in neurofibromatosis type 1 (NF1)
    Park, VM
    Sturtevant, DB
    Kenwright, KA
    Pivnick, EK
    AMERICAN JOURNAL OF PATHOLOGY, 1998, 153 (05) : 1652 - 1652
  • [7] GENETIC AND PHYSICAL MAP OF THE VONRECKLINGHAUSEN NEUROFIBROMATOSIS (NF1) REGION ON CHROMOSOME-17
    YAGLE, MK
    PARRUTI, G
    XU, W
    PONDER, BAJ
    SOLOMON, E
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1990, 87 (18) : 7255 - 7259
  • [8] 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
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1999, 86 (04): : 328 - 330
  • [9] A new nonsense mutation in the NF1 gene with neurofibromatosis–Noonan syndrome phenotype
    Sevgi Yimenicioğlu
    Ayten Yakut
    Kadri Karaer
    Martin Zenker
    Arzu Ekici
    Kürşat Bora Çarman
    Child's Nervous System, 2012, 28 : 2181 - 2183
  • [10] Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene
    Sigrid Tinschert
    Ilka Naumann
    Elisabeth Stegmann
    Annegret Buske
    Dieter Kaufmann
    Gundula Thiel
    Dieter E Jenne
    European Journal of Human Genetics, 2000, 8 : 455 - 459