Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome

被引：58

作者：

Pinson, L

Augé, J

Audollent, S

Mattéi, G

Etchevers, H

Gigarel, N

Razavi, F

Lacombe, D

Odent, S

Le Merrer, M

Amiel, J

Munnich, A

Meroni, G

Lyonnet, S

Vekemans, M

Attié-Bitach, T

机构：

[1] Hop Necker Enfants Malad, Dept Genet, Paris, France

[2] Hop Necker Enfants Malad, INSERM, U393, Paris, France

[3] Hop Pellegrin Enfants, Serv Genet Med, Bordeaux, France

[4] Hop Pontchaillou, Serv Genet Med, Rennes, France

[5] Telethon Inst Genet & Med, Naples, Italy

来源：

JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 05期

关键词：

D O I：

10.1136/jmg.2003.014829

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：381 / 386

页数：6

共 23 条

[1]

Bénit P, 2000, HUM MUTAT, V16, P417

[2] Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle [J].

Cainarca, S ;

Messali, S ;

Ballabio, A ;

Meroni, G .

HUMAN MOLECULAR GENETICS, 1999, 8 (08) :1387-1396

[3] New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome [J].

Cox, TC ;

Allen, LR ;

Cox, LL ;

Hopwood, B ;

Goodwin, B ;

Haan, E ;

Suthers, GK .

HUMAN MOLECULAR GENETICS, 2000, 9 (17) :2553-2562

[4] The mouse Mid1 gene:: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region [J].

Dal Zotto, L ;

Quaderi, NA ;

Elliott, R ;

Lingerfelter, PA ;

Carrel, L ;

Valsecchi, V ;

Montini, E ;

Yen, CH ;

Chapman, V ;

Kalcheva, I ;

Arrigo, G ;

Zuffardi, O ;

Thomas, S ;

Willard, HF ;

Ballabio, A ;

Disteche, CM ;

Rugarli, EI .

HUMAN MOLECULAR GENETICS, 1998, 7 (03) :489-499

[5] X-linked Opitz syndrome:: Gene and redefinition of the novel mutations in the MID1 clinical spectrum [J].

De Falco, F ;

Cainarca, S ;

Andolfi, G ;

Ferrentino, R ;

Berti, C ;

Criado, GR ;

Rittinger, O ;

Dennis, N ;

Odent, S ;

Rastogi, A ;

Liebelt, J ;

Chitayat, D ;

Winter, R ;

Jawanda, H ;

Ballabio, A ;

Franco, B ;

Meroni, G .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 120A (02) :222-228

[6]

Fryburg JS, 1996, AM J MED GENET, V62, P274, DOI 10.1002/(SICI)1096-8628(19960329)62:3<274::AID-AJMG13>3.0.CO

[7]

2-H

[8] Opitz G/BBB syndrome in Xp22:: Mutations in the MID1 gene cluster in the carboxy-terminal domain [J].

Gaudenz, K ;

Roessler, E ;

Quaderi, N ;

Franco, B ;

Feldman, G ;

Gasser, DL ;

Wittwer, B ;

Montini, E ;

Opitz, JM ;

Ballabio, A ;

Muenke, M .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (03) :703-710

[9]

GORLIN R, 2001, SYNDROMES HEAD NECK, V19, P988

[10] The androgen-receptor CAG repeat polymorphism and X-chromosome inactivation in Australian Caucasian women with infertility related to polycystic ovary syndrome [J].

Hickey, T ;

Chandy, A ;

Norman, RJ .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2002, 87 (01) :161-165

← 1 2 3 →