Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients.

McGaughran JM; Gaunt L; Dore J; Petrij F; Dauwerse HG; Donnai D

首页> 外文期刊>Journal of Medical Genetics >Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients.

【24h】

Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients.

机译：Rubinstein-Taybi综合征在16p13.3时缺失FISH探针RT1：两名英国患者。

获取原文

获取原文并翻译 | 示例

获取外文期刊封面目录资料

开具论文收录证明 >>

文献代查 >>

文献数据库（团队版） >>

页面导航

摘要
著录项
引文网络
相似文献
相关主题

摘要

We report two patients with Rubinstein-Taybi syndrome out of a total of 16 tested who have a deletion of the region visualised by the cosmid probe RT1. These results further confirm this as a locus for Rubinstein-Taybi syndrome.

机译：我们报告了总共16名接受测试的鲁宾斯坦-塔比综合征患者中的2名患者，这些患者的粘粒探针RT1可视化区域缺失。这些结果进一步证实这是Rubinstein-Taybi综合症的病源。

著录项

来源
《Journal of Medical Genetics》 |1996年第1期|共2页
作者
McGaughran JM; Gaunt L; Dore J; Petrij F; Dauwerse HG; Donnai D;
展开▼
作者单位

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类基础医学;
关键词
Chromosomes; Human; Pair 16; Gene Deletion; Rubinstein-Taybi Syndrome; Cosmids; 染色体; 人; 16对; 基因缺失; Rubinstein-Taybi综合征;

机译：Chromosomes;Human;Pair 16;Gene Deletion;Rubinstein-Taybi Syndrome;Cosmids;染色体;人;16对;基因缺失;Rubinstein-Taybi综合征;

相似文献

外文文献
中文文献
专利

1. Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients. [J] . McGaughran JM, Gaunt L, Dore J, Journal of Medical Genetics . 1996,第1期

机译：Rubinstein-Taybi综合征在16p13.3时缺失FISH探针RT1：两名英国患者。
2. Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. [J] . Bartsch O, Rasi S, Delicado A, Human Genetics . 2006,第2期

机译：新的连续基因综合症的证据，即染色体16p13.3缺失综合症为严重的鲁宾斯坦-塔比综合症。
3. FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy. [J] . Bartsch O, Wagner A, Hinkel GK, European journal of human genetics: EJHG . 1999,第7期

机译：在45例鲁宾斯坦-塔比综合征患者中进行的FISH研究：与脾虚，左心发育不良和婴儿死亡相关的缺失。
4. On ordered syndromes for multi insertion/deletion error-correcting codes [C] . Manabu Hagiwara IEEE International Symposium on Information Theory . 2016

机译：关于多重插入/删除纠错码的有序校正子
5. The Picture Exchange Communication System (PECS) and its effect on communicative abilities in Rubinstein-Taybi Syndrome: A retrospective case study. [D] . Monica, Danielle R. 2016

机译：图片交换通信系统（PECS）及其对鲁宾斯坦-塔比综合征中的沟通能力的影响：一项回顾性案例研究。
6. Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients. [O] . J M McGaughran, L Gaunt, J Dore, 1996

机译：Rubinstein-Taybi综合征在16p13.3时缺失FISH探针RT1：两名英国患者。
7. Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients. [O] . McGaughran, J M, Gaunt, L, Dore, J, 1996

机译：Rubinstein-Taybi综合征在16p13.3时缺失FISH探针RT1：两名英国患者。

Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients.

摘要

著录项

引文网络

相似文献

相关主题

期刊订阅