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Volume 7 | Issue 1 | January to March 2014 |
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GeNeDiT | ||
January to March 2014 | Vol 7 | Issue 1 | Pages 1-2 | ||
Story of the Diagnosis of Intellectual Disability Continues: New Challenges | ||
I remember our journey through the diagnosis of
intellectual disability. We have witnessed a lot of
progress over the years in the diagnostic yield for
cases with intellectual disability and malformation
syndromes. Until a few decades ago, cases with ID
were diagnosed largely on the basis of clinical.... Shubha R Phadke |
ClinicalVignette | ||
January to March 2014 | Vol 7 | Issue 1 | Pages 3-5 | ||
An entity which still occurs - Congenital Rubella Syndrome | ||
The rubella virus is a member of the Togaviridae
family, genus Rubivirus. It is spread through
airborne droplets and infected people are either
asymptomatic or present with symptoms mimicking
upper respiratory infection. However, primary
Rubella infection during pregnancy causes... Manisha Goyal , Udhaya Kotecha , Ratna D Puri , Sanghamitra Datta , Chand Wattal , 1 1 Renu Saxena , I C Verma |
GeNeViSTA | ||
January to March 2014 | Vol 7 | Issue 1 | Pages 6-10 | ||
Fragile-X Revisited- Novel Testing, Screening and Treatment Strategies | ||
Fragile X syndrome (FXS) (MIM #30955) is among
the common human single gene disorders, and is
the leading cause of inherited cognitive disability
and also the second most common cause of
genetically associated intellectual disability
following trisomy 21. The name refers to a... Priyanka Srivastava , Shagun Agarwal |
GeNeViSTA | ||
January to March 2014 | Vol 7 | Issue 1 | Pages 12-18 | ||
Approach to Intellectual Disability | ||
Intellectual disability or mental retardation is
defined as significant sub-average intellectual
function existing concurrently with deficits in
adaptive behaviour and manifested during the
developmental period.
Intellectual disability/ mental retardation (ID/ MR)
has 3 components:... Prajnya Ranganath |
GeNeViSTA | ||
January to March 2014 | Vol 7 | Issue 1 | Pages 19-24 | ||
Phenylketonuria: Past, Present and Future | ||
Phenylketonuria (PKU) is considered the epitome of
inborn errors of metabolism. The history of
phenylketonuria can be traced through the
triumphs of medicine over inborn errors of
metabolism in various fields like dietary
management, newborn screening etc. It has been a... Dr Ashwin Dalal |
GeNeXprESS | ||
January to March 2014 | Vol 7 | Issue 1 | Pages 25 | ||
Same Genes, Opposite Phenotypes... & More | ||
Disruption of 11p15 imprinted region, containing at least
eight genes, results in two different fetal growth
disorders, Beckwith-Wiedemann (BWS) and Silver-Russell
(SRS) syndromes, with opposite phenotypes. Either gain
of methylation of imprinting center (IC) or loss of
methylation of IC2 will cause BWS whereas SRS is... G Sri Lakshmi Bhavani |