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
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 1993年 / 53卷 / 03期
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
  • [21] Mosaic Type-1 NF1 Microdeletions as a Cause of Both Generalized and Segmental Neurofibromatosis Type-1 (NF1)
    Messiaen, Ludwine
    Vogt, Julia
    Bengesser, Kathrin
    Fu, Chuanhua
    Mikhail, Fady
    Serra, Eduard
    Garcia-Linares, Carles
    Cooper, David N.
    Lazaro, Conxi
    Kehrer-Sawatzki, Hildegard
    [J]. HUMAN MUTATION, 2011, 32 (02) : 213 - 219
  • [22] A BGLII RFLP NEAR THE HUMAN NEUROFIBROMATOSIS TYPE-1 (NF1) GENE
    WATKINS, WS
    OCONNELL, P
    STEVENS, J
    CULVER, M
    EWART, A
    JORDE, LB
    [J]. NUCLEIC ACIDS RESEARCH, 1991, 19 (23) : 6662 - 6662
  • [23] CHARACTERIZATION OF 25 NOVEL MUTATIONS IN THE NEUROFIBROMATOSIS TYPE-1 (NF1) GENE
    UPADHYAYA, M
    MAYNARD, J
    OSBORN, M
    HARPER, PS
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1331 - 1331
  • [24] Emerging genotype–phenotype relationships in patients with large NF1 deletions
    Hildegard Kehrer-Sawatzki
    Victor-Felix Mautner
    David N. Cooper
    [J]. Human Genetics, 2017, 136 : 349 - 376
  • [25] Spinal Neurofibromatosis (SNF): A Variant Phenotype of Neurofibromatosis Type 1 (NF1)
    Rogawski, David S.
    Tong, Elizabeth
    Campen, Cynthia
    [J]. JOURNAL OF PEDIATRICS, 2023, 261
  • [26] MATERNAL ORIGIN OF NF1 GENE DELETIONS IN SPORADIC NEUROFIBROMATOSIS
    SOLTAN, H
    AINSWORTH, PJ
    WEKSBERG, R
    GARDNER, HA
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1321 - 1321
  • [27] Identification of the NF1 gene mutation in Korean families with neurofibromatosis type 1
    Yong Hwa Jo
    Hye Ok Kim
    Hae-Ryong Song
    Kyung-Sik Yoon
    [J]. Genes & Genomics, 2014, 36 : 11 - 15
  • [28] 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
    [J]. GENES, 2021, 12 (10)
  • [29] Identification of the NF1 gene mutation in Korean families with neurofibromatosis type 1
    Jo, Yong Hwa
    Kim, Hye Ok
    Song, Hae-Ryong
    Yoon, Kyung-Sik
    [J]. GENES & GENOMICS, 2014, 36 (01) : 11 - 15
  • [30] Identification of two novel mutations in the NF1 gene in Chinese patients with neurofibromatosis type 1
    Chen, Bin
    Sun, Liang-Dan
    Zhou, Fu-Sheng
    Yao, Feng-Ming
    Quan, Cheng
    Fang, Qiao-Yun
    Chen, Qiu-Ping
    Fan, Xing
    Yang, Sen
    Zhang, Xue-Jun
    [J]. JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2009, 23 (03) : 362 - 363
12345