推荐同事 机构合作 中文 繁體中文 English 한국어 日本語 Português Español

美国ACCDON公司旗下品牌

021-33361733，021-33632861

chinasupport@letpub.com

登录 注册 新注册优惠

Parkinson disease: Insights in clinical, genetic and pathological features of monogenic disease subtypes

D Crosiers, J Theuns, P Cras… - Journal of Chemical …, 2011 - Elsevier
In the past 15 years, insights in clinical and genetic characteristics of Parkinson disease (PD)
have increased substantially. Sequence or copy number variants in at least six genes
(SNCA, LRRK2, PARK2, PINK1, DJ-1 and ATP13A2) have been identified to cause ...

Fanconi anaemia: from a monogenic disease to sporadic cancer

A Valeri, S Martínez, JA Casado… - Clinical and Translational …, 2011 - Springer
Abstract The dissection of the molecular pathways par- ticipating in genetic instability disorders
has rendered invaluable information about the mechanisms of cancer pathogenesis and
progression, and is offering a unique opportunity to establish targeted anticancer ...
Related articles - All 6 versions

Insights into the molecular correlates modulating functional compensation between monogenic and polygenic disease gene duplicates in human

S Podder… - Genomics, 2011 - Elsevier
Functional redundancy by gene duplication appears to be a common phenomenon in biological
system and hence understanding its underlying mechanism deserves much attention. Here,
we investigated the differences between functional compensation of monogenic and ...
All 3 versions

Genetic Contributors to Frontotemporal Lobar Degeneration: Beyond Monogenic Disease

B Borroni, A Pilotto, M Bianchi… - Mini Reviews in …, 2011 - ingentaconnect.com
... Genetic Contributors to Frontotemporal Lobar Degeneration: Beyond Monogenic Disease
B. Borroni*, A. Pilotto, M. Bianchi, N. Gilberti and A. Padovani ... POLYMORPHISMS WITHIN
MAPT AND PGRN GENES: BEYOND MONOGENIC DISEASE ...

Novel genomic techniques open new avenues in the analysis of monogenic disorders

G Kuhlenbäumer, J Hullmann… - Human mutation, 2011 - Wiley Online Library
... In many cases, a monogenic disease is caused by CNVs in a subset of patients, whereas others
bear a point mutation in a gene contained within the duplication or deletion. ... Problems of Novel
Genomic Methods in Monogenic Disease Gene Identification. ...
Cited by 9 - Related articles - All 3 versions

联系我们 | 站点地图 | 友情链接 | 授权代理商 | 加入我们

© 2010-2024 中国: LetPub上海分公司    网站备案号：沪ICP备10217908号-1    沪公网安备号：31010402006960

增值电信业务经营许可证：沪B2-20211595

礼翰商务信息咨询（上海）有限公司      办公地址：上海市徐汇区漕溪北路88号圣爱大厦1803室

United States: Tel: 1-781-202-9968 Address: 400 5th Ave, Suite 530, Waltham, Massachusetts 02451