SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism -: art. no. e113

被引：65

作者：

Borozdin, W

Boehm, D

Leipoldt, M

Wilhelm, C

Reardon, W

Clayton-Smith, J

Becker, K

Mühlendyck, H

Winter, R

Giray, Ö

Silan, F

Kohlhase, J

机构：

[1] Univ Freiburg, Inst Human Genet & Anthropol, D-79106 Freiburg, Germany

[2] Univ Gottingen, Inst Human Genet, D-3400 Gottingen, Germany

[3] Our Ladys Hosp Sick Children, Natl Ctr Med Genet, Dublin, Ireland

[4] St Marys Hosp, Dept Clin Genet, Manchester M13 0JH, Lancs, England

[5] Northwick Pk Hosp & Clin Res Ctr, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, England

[6] Univ Gottingen, Dept Neuroophthalmol, D-3400 Gottingen, Germany

[7] UCL, Sch Med, Inst Child Hlth, London W1N 8AA, England

[8] Dokuz Eylul Univ, Dept Paediat, Div Genet, Izmir, Turkey

[9] Abant Izzet BAysal Univ, Sch Med, Med Biol & Genet Dept, Duzce, Turkey

来源：

JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 09期

关键词：

D O I：

10.1136/jmg.2004.019901

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页数：8

共 36 条

[1] Translocation and gross deletion breakpolints in human inherited disease and cancer I: Nucleotide composition and recomblination-assocliated motifs
Abeysinghe, SS
Chuzhanova, N
Krawczak, M
Ball, EV
Cooper, DN
[J]. HUMAN MUTATION, 2003, 22 (03) : 229 - 244
[2] Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family
Al-Baradie, R
Yamada, K
St Hilaire, C
Chan, WM
Andrews, C
McIntosh, N
Nakano, M
Martonyi, EJ
Raymond, WR
Okumura, S
Okihiro, MM
Engle, EC
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (05) : 1195 - 1199
[3] Okihiro syndrome and acro-renal-ocular syndrome:: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families
Becker, K
Beales, PL
Calver, DM
Matthijs, G
Mohammed, SN
[J]. JOURNAL OF MEDICAL GENETICS, 2002, 39 (01) : 68 - 71
[4] Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye
Boehm, D
Herold, S
Kuechler, A
Liehr, T
Laccone, F
[J]. HUMAN MUTATION, 2004, 23 (04) : 368 - 378
[5] BOROZDIN W, IN PRESS J MED GENET
[6] Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype
Brassington, AME
Sung, SS
Toydemir, RM
Le, T
Roeder, AD
Rutherford, AE
Whitby, FG
Jorde, LB
Bamshad, MJ
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (01) : 74 - 85
[7] Molecular cloning, chromosomal localization, and expression of the murine SALL1 ortholog Sall1
Buck, A
Archangelo, L
Dixkens, C
Kohlhase, J
[J]. CYTOGENETICS AND CELL GENETICS, 2000, 89 (3-4): : 150 - 153
[8] Cloning and expression of CSAL2, a new member of the spalt gene family in chick
Farrell, ER
Tosh, G
Church, E
Münsterberg, AE
[J]. MECHANISMS OF DEVELOPMENT, 2001, 102 (1-2) : 227 - 230
[9] csal1 is controlled by a combination of FGF and Wnt signals in developing limb buds
Farrell, ER
Münsterberg, AE
[J]. DEVELOPMENTAL BIOLOGY, 2000, 225 (02) : 447 - 458
[10] FRAISSE J, 1981, ANN GENET-PARIS, V24, P216

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