Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy

被引：11

作者：

Lemmers, R. J. L. F. ^{[1
]}

van der Wielen, M. J. R. ^{[1
]}

Bakker, E. ^{[1
]}

Frants, R. R. ^{[1
]}

van der Maarel, S. M. ^{[1
]}

机构：

[1] Leiden Univ, Med Ctr, Dept Human Genet, NL-2300 RC Leiden, Netherlands

来源：

NEUROMUSCULAR DISORDERS | 2006年 / 16卷 / 9-10期

关键词：

D O I：

10.1016/j.nmd.2006.07.013

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：615 / 617

页数：3

共 9 条

[1] Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: Diagnostic approach for sporadic and familial cases [J].

Bakker, E ;

VanderWielen, MJR ;

Voorhoeve, E ;

Ippel, PF ;

Padberg, GW ;

Frants, RR ;

Wijmenga, C .

JOURNAL OF MEDICAL GENETICS, 1996, 33 (01) :29-35

[2] DNA REARRANGEMENTS IN JAPANESE FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY PATIENTS - CLINICAL CORRELATIONS [J].

GOTO, K ;

LEE, JH ;

MATSUDA, C ;

HIRABAYASHI, K ;

KOJO, T ;

NAKAMURA, A ;

MITSUNAGA, Y ;

FURUKAWA, T ;

SAHASHI, K ;

ARAHATA, K .

NEUROMUSCULAR DISORDERS, 1995, 5 (03) :201-208

[3] Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy [J].

Goto, K ;

Nishino, I ;

Hayashi, YK .

NEUROMUSCULAR DISORDERS, 2006, 16 (04) :256-261

[4] Application of chromosome 4q35-qter marker (pFR-1) for DNA rearrangement of facioscapulohumeral muscular dystrophy patients in Taiwan [J].

Hsu, YD ;

Kao, MC ;

Shyu, WC ;

Lin, JC ;

Huang, NE ;

Sun, HF ;

Yang, KD ;

Tsao, WL .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1997, 149 (01) :73-79

[5] Somatic mosaicism in FSHD often goes undetected [J].

Lemmers, RJLF ;

van der Wielen, MJR ;

Bakker, E ;

Padberg, GW ;

Frants, RR ;

van der Maarel, SM .

ANNALS OF NEUROLOGY, 2004, 55 (06) :845-850

[6] CORRELATION BETWEEN FRAGMENT SIZE AT D4F104S1 AND AGE AT ONSET OR AT WHEELCHAIR USE, WITH A POSSIBLE GENERATIONAL-EFFECT, ACCOUNTS FOR MUCH PHENOTYPIC VARIATION IN 4Q35-FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD) [J].

LUNT, PW ;

JARDINE, PE ;

KOCH, MC ;

MAYNARD, J ;

OSBORN, M ;

WILLIAMS, M ;

HARPER, PS ;

UPADHYAYA, M .

HUMAN MOLECULAR GENETICS, 1995, 4 (05) :951-958

[7] Definitive molecular diagnosis of facioscapulohumeral dystrophy [J].

Orrell, RW ;

Tawil, R ;

Forrester, J ;

Kissel, JT ;

Mendell, JR ;

Figlewicz, DA .

NEUROLOGY, 1999, 52 (09) :1822-1826

[8] CHROMOSOME-4Q DNA REARRANGEMENTS ASSOCIATED WITH FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY [J].

WIJMENGA, C ;

HEWITT, JE ;

SANDKUIJL, LA ;

CLARK, LN ;

WRIGHT, TJ ;

DAUWERSE, HG ;

GRUTER, AM ;

HOFKER, MH ;

MOERER, P ;

WILLIAMSON, R ;

VANOMMEN, GJB ;

PADBERG, GW ;

FRANTS, RR .

NATURE GENETICS, 1992, 2 (01) :26-30

[9] Improved characterization of FSHD mutations [J].

Zhang, YZ ;

Forner, J ;

Fournet, S ;

Jeanpierre, M .

ANNALES DE GENETIQUE, 2001, 44 (02) :105-110

← 1 →