A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1

被引:0
|
作者
Anna Lia Gabriele
Martino Ruggieri
Alessandra Patitucci
Angela Magariello
Francesca Luisa Conforti
Rosalucia Mazzei
Maria Muglia
Carmine Ungaro
Gemma Di Palma
Luigi Citrigno
William Sproviero
Antonio Gambardella
Aldo Quattrone
机构
[1] Institute of Neurological Science (ISN),Department of Formative Processes
[2] National Research Council (CNR),Department of Neurosciences, Psychiatric and Anesthesiological Sciences
[3] University of Catania,Institute of Neurology
[4] University of Messina,Neuroimaging Research Unit
[5] University Magna Graecia,undefined
[6] National Research Council,undefined
[7] Institute of Neurological Sciences,undefined
[8] National Research Council,undefined
来源
Child's Nervous System | 2011年 / 27卷
关键词
Neurofibromatosis 1; NF1 gene; Mutation analysis; DHPLC;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:635 / 638
页数:3
相关论文
共 50 条
  • [41] Neurofibromatosis type 1-related pseudarthrosis: Beyond the pseudarthrosis site
    Brekelmans, Carlijn
    Hollants, Silke
    De Groote, Caroline
    Sohier, Natalie
    Marechal, Marina
    Geris, Liesbet
    Luyten, Frank P.
    Ginckels, Lieve
    Sciot, Raf
    de Ravel, Thomy
    De Smet, Luc
    Lammens, Johan
    Legius, Eric
    Brems, Hilde
    HUMAN MUTATION, 2019, 40 (10) : 1760 - 1767
  • [42] Identification of a novel mutation in WFS1 in a family affected by low-frequency hearing impairment
    Kunz, J
    Marquez-Klaka, B
    Uebe, S
    Volz-Peters, A
    Berger, R
    Rausch, P
    MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS, 2003, 525 (1-2) : 121 - 124
  • [43] Novel Gene LAMA2 Mutation and Exonic Deletion Underline Merosin-Deficient Congenital Muscular Dystrophy 1A in a Chinese Family
    Liang, Lili
    Zhang, Qigang
    Gu, Xuefan
    IRANIAN JOURNAL OF PEDIATRICS, 2017, 27 (02)
  • [44] A novel splicing mutation and haplotype analysis of the FECH gene in a Chinese family with erythropoietic protoporphyria
    Ma, J.
    Xiao, S.
    An, J.
    Wang, X.
    Xu, Q.
    Dong, Y.
    Feng, Y.
    Wang, J.
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2010, 24 (06) : 726 - 729
  • [45] A novel termination codon mutation of the WAS gene in a Thai family with Wiskott-Aldrich syndrome
    Chatchatee, P
    Srichomthong, C
    Chewatavorn, A
    Shotelersuk, V
    INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, 2003, 12 (06) : 939 - 941
  • [46] A Novel Mutation of SLC26A4 Gene In an Iranian Family with Pendred Syndrome
    Kahrizi, K.
    Nishimura, C.
    Naghavi, A.
    Riazalhosseini, Y.
    Smith, R. J. H.
    Najmabadi, H.
    INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM, 2005, 3 (02) : 104 - 108
  • [47] Identification of a novel mutation in the EXT1 gene from a patient with multiple osteochondromas by exome sequencing
    Hong, Guolin
    Guo, Xiaoyan
    Yan, Wei
    Li, Qianqian
    Zhao, Hailing
    Ma, Ping
    Hu, Xiao
    MOLECULAR MEDICINE REPORTS, 2017, 15 (02) : 657 - 664
  • [48] Mutation screening of the BRCA1 gene in Slovak patients
    Tomka, M
    Sedláková, M
    Reinerová, M
    Veselovská, Z
    Stevurková, V
    Bartosová, Z
    Zajac, V
    NEOPLASMA, 2001, 48 (06) : 451 - 455
  • [49] Phenotypic variability among cafe-au-lait macules in neurofibromatosis type 1
    Boyd, Kevin P.
    Gao, Liyan
    Feng, Rui
    Beasley, Mark
    Messiaen, Ludwine
    Korf, Bruce R.
    Theos, Amy
    JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2010, 63 (03) : 440 - 447
  • [50] Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
    Legius, Eric
    Messiaen, Ludwine
    Wolkenstein, Pierre
    Pancza, Patrice
    Avery, Robert A.
    Berman, Yemima
    Blakeley, Jaishri
    Babovic-Vuksanovic, Dusica
    Cunha, Karin Soares
    Ferner, Rosalie
    Fisher, Michael J.
    Friedman, Jan M.
    Gutmann, David H.
    Kehrer-Sawatzki, Hildegard
    Korf, Bruce R.
    Mautner, Victor-Felix
    Peltonen, Sirkku
    Rauen, Katherine A.
    Riccardi, Vincent
    Schorry, Elizabeth
    Stemmer-Rachamimov, Anat
    Stevenson, David A.
    Tadini, Gianluca
    Ullrich, Nicole J.
    Viskochil, David
    Wimmer, Katharina
    Yohay, Kaleb
    Huson, Susan M.
    Evans, D. Gareth
    Plotkin, Scott R.
    GENETICS IN MEDICINE, 2021, 23 (08) : 1506 - 1513