De novo partial duplication of 17p associated with Charcot-Marie-Tooth disease type 1A

被引：3

作者：

Fernández-Torre, JL

Otero, B

Alvarez, V

Hernando, I

Fernández-Toral, J

机构：

[1] Hosp Cabuenes, Serv Neurofisiol Clin, Gijon 33394, Spain

[2] Hosp Cent Asturias, Mol Genet Unit, Serv Neuropediat, Oviedo 33006, Spain

来源：

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 2001年 / 70卷 / 05期

关键词：

D O I：

10.1136/jnnp.70.5.703

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：703 / 704

页数：2

共 9 条

[1]

BARTSCHSANDHOFF M, 1979, HUM GENET, V49, P123

[2] TRISOMY-17P ASSOCIATED WITH CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-1A PHENOTYPE - EVIDENCE FOR GENE DOSAGE AS A MECHANISM IN CMT1A [J].

CHANCE, PF ;

BIRD, TD ;

MATSUNAMI, N ;

LENSCH, MW ;

BROTHMAN, AR ;

FELDMAN, GM .

NEUROLOGY, 1992, 42 (12) :2295-2299

[3]

King PH, 1998, CLIN GENET, V54, P413

[4] DENOVO DUPLICATION OF 17P [DUP(17)(P12-]P11.2)] - REPORT OF AN ADDITIONAL CASE WITH CONFIRMATION OF THE CYTOGENETIC, PHENOTYPIC, AND DEVELOPMENTAL ASPECTS [J].

KOZMA, C ;

MECK, JM ;

LOOMIS, KJ ;

GALINDO, HC .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 41 (04) :446-450

[5]

LATTA E, 1974, HUMANGENETIK, V23, P213

[6] GENE DOSAGE IS A MECHANISM FOR CHARCOT-MARIE-TOOTH DISEASE TYPE-1A [J].

LUPSKI, JR ;

WISE, CA ;

KUWANO, A ;

PENTAO, L ;

PARKE, JT ;

GLAZE, DG ;

LEDBETTER, DH ;

GREENBERG, F ;

PATEL, PI .

NATURE GENETICS, 1992, 1 (01) :29-33

[7] DENOVO PARTIAL DUPLICATION OF 17P [DUP(17)(P12-]P11.2)] - CLINICAL REPORT [J].

MAGENIS, RE ;

BROWN, MG ;

ALLEN, L ;

REISS, J .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 24 (03) :415-420

[8]

Roa BB, 1996, HUM GENET, V97, P642

[9]

SCHRANDERSTUMPEL C, 1990, CLIN GENET, V37, P148

← 1 →