The phenotype of survivors of campomelic dysplasia

被引：81

作者：

Mansour, S

Offiah, AC

McDowall, S

Sim, P

Tolmie, J

Hall, C

机构：

[1] St George Hosp, Sch Med, SW Thames Reg Genet Serv, London SW17 0RE, England

[2] Great Ormond St Hosp Children, Dept Radiol, London WC1N 3JH, England

[3] Univ Melbourne, Howard Florey Inst, Parkville, Vic 3010, Australia

[4] Yorkhill NHS Trust, W Scotland Reg Genet Serv, Inst Med Genet, Glasgow G3 8SJ, Lanark, Scotland

来源：

JOURNAL OF MEDICAL GENETICS | 2002年 / 39卷 / 08期

关键词：

D O I：

10.1136/jmg.39.8.597

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：597 / 602

页数：6

共 15 条

[1] SOX9 directly regulates the type-II collagen gene [J].

Bell, DM ;

Leung, KKH ;

Wheatley, SC ;

Ng, LJ ;

Zhou, S ;

Ling, KW ;

Sham, MH ;

Koopman, P ;

Tam, PPL ;

Cheah, KSE .

NATURE GENETICS, 1997, 16 (02) :174-178

[2] Sox9 is required for cartilage formation [J].

Bi, WM ;

Deng, JM ;

Zhang, ZP ;

Behringer, RR ;

de Crombrugghe, B .

NATURE GENETICS, 1999, 22 (01) :85-89

[3] SPINAL ABNORMALITIES IN CAMPTOMELIC DYSPLASIA [J].

COSCIA, MF ;

BASSETT, GS ;

BOWEN, JR ;

OGILVIE, JW ;

WINTER, RB ;

SIMONTON, SC .

JOURNAL OF PEDIATRIC ORTHOPAEDICS, 1989, 9 (01) :6-14

[4]

Lefebvre V, 1998, MATRIX BIOL, V16, P529

[5] SOX9 is a potent activator of the chondrocyte-specific enhancer of the pro alpha 1(II) collagen gene [J].

Lefebvre, V ;

Huang, WD ;

Harley, VR ;

Goodfellow, PN ;

deCrombrugghe, B .

MOLECULAR AND CELLULAR BIOLOGY, 1997, 17 (04) :2336-2346

[6] CAMPOMELIC DYSPLASIA - EVIDENCE OF AUTOSOMAL-DOMINANT INHERITANCE [J].

LYNCH, SA ;

GAUNT, ML ;

MINFORD, AMB .

JOURNAL OF MEDICAL GENETICS, 1993, 30 (08) :683-686

[7] A CLINICAL AND GENETIC-STUDY OF CAMPOMELIC DYSPLASIA [J].

MANSOUR, S ;

HALL, CM ;

PEMBREY, ME ;

YOUNG, ID .

JOURNAL OF MEDICAL GENETICS, 1995, 32 (06) :415-420

[8] Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia [J].

McDowall, S ;

Argentaro, A ;

Ranganathan, S ;

Weller, P ;

Mertin, S ;

Mansour, S ;

Tolmie, J ;

Harley, V .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1999, 274 (34) :24023-24030

[9]

OFFIAH AC, IN PRESS J MED GENET

[10] Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9:: Evidence for an extended control region [J].

Pfeifer, D ;

Kist, R ;

Dewar, K ;

Devon, K ;

Lander, ES ;

Birren, B ;

Korniszewski, L ;

Back, E ;

Scherer, G .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (01) :111-124

← 1 2 →