Phenotypic and Molecular Characterization of Cockayne Syndrome; A Spotlight to Mild Cases

被引：0
|
作者：
Yesil, G. [1 ]
Akyuz, E. [1 ]
Gunes, N. [2 ]
Lessel, D. [3 ]
Kubisch, C. [3 ]
Tuysuz, B. [2 ]
机构：
[1] Bezmialem Vakif Univ, Dept Med Genet, Istanbul, Turkey
[2] IU Cerrahpasa Med Fac, Dept Pediat Genet, Istanbul, Turkey
[3] Ulm Univ, Inst Human Genet, Ulm, Germany
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P09.094B
引用
收藏
页码：406 / 407
页数：2
相关论文
共 50 条
  • [1] 2 CASES OF THE COCKAYNE SYNDROME
    IWAMOTO, H
    MIYAKE, S
    HAYASHI, M
    YAMASHITA, S
    SASAKI, Y
    [J]. BRAIN & DEVELOPMENT, 1986, 8 (02): : 191 - 191
  • [2] COCKAYNE SYNDROME - REVIEW OF 140 CASES
    NANCE, MA
    BERRY, SA
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 42 (01): : 68 - 84
  • [3] COCKAYNE SYNDROME - DESCRIPTION OF 2 CASES
    LANZI, G
    CALLIGARO, A
    DANESINO, C
    BURGIO, FR
    VERRI, AP
    [J]. MINERVA PEDIATRICA, 1976, 28 (26) : 1597 - 1608
  • [4] Cockayne syndrome: Review of 25 cases
    Ozdirim, E
    Topcu, M
    Ozon, A
    Cila, A
    [J]. PEDIATRIC NEUROLOGY, 1996, 15 (04) : 312 - 316
  • [5] The metabolic and molecular bases of Cockayne Syndrome
    Javier Flores-Alvarado, Luis
    Alberto Ramirez-Garcia, Sergio
    Yazmine Nunez-Reveles, Nelly
    [J]. REVISTA DE INVESTIGACION CLINICA-CLINICAL AND TRANSLATIONAL INVESTIGATION, 2010, 62 (05): : 480 - 490
  • [6] Cockayne's syndrome: report of two cases
    Resende, Catarina
    Loureiro, Susana
    Cardoso, Elisa
    Fonseca, Sofia
    Sa, Joaquim
    Simoes, Fytima
    [J]. SCIENTIA MEDICA, 2012, 22 (04) : 211 - 215
  • [7] A case of Cockayne syndrome with unusually mild clinical manifestations
    Tsujimoto, Mariko
    Nakano, Eiji
    Nakazawa, Yuka
    Kanda, Fumio
    Ueda, Takehiro
    Ogi, Tomoo
    Nishigori, Chikako
    [J]. JOURNAL OF DERMATOLOGY, 2023, 50 (04): : 541 - 545
  • [8] Immune Deficiency in Jacobsen Syndrome: Molecular and Phenotypic Characterization
    Rodriguez-Lopez, Raquel
    Gimeno-Ferrer, Fatima
    Montesinos, Elena
    Ferrer-Bolufer, Irene
    Guzman Lujan, Carola
    Albuquerque, David
    Monzo Cataluna, Carolina
    Ballesteros, Virginia
    Perez-Gramunt, Monserrat Aleu
    [J]. GENES, 2021, 12 (08)
  • [9] Molecular characterization of an acidic region deletion mutant of Cockayne syndrome group B protein
    Sunesen, M
    Selzer, RR
    Brosh, RM
    Balajee, AS
    Stevnsner, T
    Bohr, VA
    [J]. NUCLEIC ACIDS RESEARCH, 2000, 28 (16) : 3151 - 3159
  • [10] A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome
    Luo, Yu
    Ling, Yan
    Chen, Jiachao
    Xu, Xi
    Chen, Chen
    Leng, Fei
    Cheng, Jing
    Chen, Min
    Lu, Zhiqiang
    [J]. CLINICAL CASE REPORTS, 2014, 2 (02): : 33 - 36
12345