The HUGO Journal
SCOPUS (2009-2015)
1877-6566
1877-6558
Cơ quản chủ quản: N/A
Phân tích ảnh hưởng
Các bài báo tiêu biểu
Clinical and pathological characteristics of Chinese patients with BRCA related breast cancer
- 2009
Haplotype variation in the ACE gene in global populations, with special reference to India, and an alternative model of evolution of haplotypes
- 2011
Abstract Angiotensin-I-converting enzyme (ACE) is known to be associated with
human cardiovascular and psychiatric pathophysiology. We have undertaken a
global survey of the haplotypes in ACE gene to study diversity and to draw
inferences on the nature of selective forces that may be operating on this gene.
We have investigated the haplotype profiles reconstructed using polymorphisms in
the regula...
Germ-line variation at a functional p53 binding site increases susceptibility to breast cancer development
Tập 3 - Trang 31-40 - 2010
Multiple lines of evidence suggest regulatory variation to play an important
role in phenotypic evolution and disease development, but few regulatory
polymorphisms have been characterized genetically and molecularly. Recent
technological advances have made it possible to identify bona fide regulatory
sequences experimentally on a genome-wide scale and opened the window for the
biological interroga...
The use of race, ethnicity and ancestry in human genetic research
Tập 5 - Trang 47-63 - 2011
Post-Human Genome Project progress has enabled a new wave of population genetic
research, and intensified controversy over the use of race/ethnicity in this
work. At the same time, the development of methods for inferring genetic
ancestry offers more empirical means of assigning group labels. Here, we provide
a systematic analysis of the use of race/ethnicity and ancestry in current
genetic resear...
Current and emerging therapeutic strategies for Fanconi anemia
Tập 6 - Trang 1-8 - 2012
Fanconi Anemia (FA) is a rare disorder with incidence of 1in 350,000 births. It
is characterized by progressive bone marrow failure leading to death of many
patients in their childhood while development of cancer at later stages of life
in some. The treatment of FA is still a medical challenge. Current treatments of
FA include androgen administration, hematopoietic growth factors administration
an...
27th HUGO-IABCR congress 2010: poster abstracts 5–7 October 2010, Singapore
Tập 4 - Trang 65-77 - 2011
The GAMY Project: young people’s attitudes to genetics in the South Wales valleys
Tập 4 - Trang 49-60 - 2011
This paper explores young people’s attitudes to genetics. It describes a
qualitative study involving a group of teenagers in a deprived South Wales
valley town over a period of 18 months. The GAMY (Genetics and Merthyr Youth)
Project involved a series of interactions with participants, including 2
interviews, 4 group days and 4 genetics tasks through which these young people
learned about, and the...
An economic perspective on personalized medicine
Tập 7 - Trang 1-6 - 2013
The concept of personalized medicine not only promises to enhance the life of
patients and increase the quality of clinical practice and targeted care
pathways, but also to lower overall healthcare costs through early-detection,
prevention, accurate risk assessments and efficiencies in care delivery. Current
inefficiencies are widely regarded as substantial enough to have a significant
impact on t...