MECP2 mutations in Italian patients with Rett syndrome.

被引：0
|
作者：
Conforti, FL
Mazzei, R
Magariello, A
Fiumara, A
Barone, R
Patitucci, AM
Gabriele, AL
Muglia, M
机构：
[1] Natl Res Council, Inst Expt Med & Biotechnol, Cosenza, Italy
[2] Univ Catania, Dept Pediat, Catania, Italy
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2000年 / 67卷 / 04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：
2320
引用
收藏
页码：412 / 412
页数：1
相关论文
共 50 条
  • [1] MECP2 mutations in Malaysian Rett syndrome patients
    Fong, C. B.
    Thong, M. K.
    Sam, C. K.
    Noor, Mohamed M. N.
    Ariffin, R.
    SINGAPORE MEDICAL JOURNAL, 2009, 50 (05) : 529 - 533
  • [2] MECP2 mutations in Serbian Rett syndrome patients
    Djarmati, A.
    Dobricic, V.
    Kecmanovic, M.
    Marsh, P.
    Jancic-Stefanovic, J.
    Klein, C.
    Djuric, M.
    Romac, S.
    ACTA NEUROLOGICA SCANDINAVICA, 2007, 116 (06): : 413 - 419
  • [3] Spectrum of MECP2 mutations in Rett syndrome
    Bienvenu, T
    Villard, L
    De Roux, N
    Bourdon, V
    Fontes, M
    Beldjord, C
    Tardieu, M
    Jonveaux, P
    Chelly, J
    GENETIC TESTING, 2002, 6 (01): : 1 - 6
  • [4] Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome
    Huong Le Thi Thanh
    Trinh Do Thi Diem
    Chinh Vu Duy
    Ha Ly Thi Thanh
    Hoa Bui Thi Phuong
    Liem Nguyen Thanh
    BMC MEDICAL GENETICS, 2018, 19
  • [5] Mutations of the MECP2 gene in Rett syndrome
    Hampson, K
    Latif, F
    Woods, CG
    Webb, T
    JOURNAL OF MEDICAL GENETICS, 2000, 37 : S73 - S73
  • [6] Spectrum of MECP2 mutations in Rett syndrome
    Lee, SSJ
    Wan, MM
    Francke, U
    BRAIN & DEVELOPMENT, 2001, 23 : S138 - S143
  • [7] MECP2 mutations in 217 patients with RTT syndrome.
    Kondo, I
    Ishihara, I
    Miyamoto, M
    Matsuishi, T
    Yamashita, Y
    Kuwajima, K
    Iwai, T
    Endo, S
    Sone, M
    Yamagata, H
    Tabara, Y
    Ohmori, I
    Oka, E
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 333 - 333
  • [8] Direct analysis of MECP2 inactivation status in patients with Rett syndrome.
    Kondo, I
    Morishita, R
    Matsuishi, T
    Yamashita, Y
    Fukuda, T
    Yamagata, H
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 350 - 350
  • [9] Gross rearrangements in the MECP2 gene in two patients with Rett syndrome.
    Schollen, E
    Deflem, E
    Smeets, E
    Fryns, JP
    Matthijs, G
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 550 - 550
  • [10] MECP2 analysis in possible familial Rett syndrome.
    Gill, HK
    Cheadle, JP
    Maynard, J
    Fleming, N
    Kerr, A
    Leonard, H
    Thompson, EM
    Hanefeld, F
    Skjeldal, O
    Sampson, J
    Clarke, A
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 136 - 136
12345