The HUGO Journal
SCOPUS (2009-2015)
1877-6566
1877-6558
Cơ quản chủ quản: N/A
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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...
Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing
- 2010
Massive parallel sequencing has revolutionized the search for pathogenic
variants in the human genome, but for routine diagnosis, re-sequencing of the
complete human genome in a large cohort of patients is still far too expensive.
Recently, novel genome partitioning methods have been developed that allow to
target re-sequencing to specific genomic compartments, but practical experience
with these ...
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...
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...
Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing
Tập 3 - Trang 83-83 - 2010
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...
A whole genome analyses of genetic variants in two Kelantan Malay individuals
Tập 8 - Trang 1-5 - 2014
The sequencing of two members of the Royal Kelantan Malay family genomes will
provide insights on the Kelantan Malay whole genome sequences. The two Kelantan
Malay genomes were analyzed for the SNP markers associated with thalassemia and
Helicobacter pylori infection. Helicobacter pylori infection was reported to be
low prevalence in the north-east as compared to the west coast of the Peninsular
M...