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Volume 9 | Issue 2 | April to June 2016 |
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GeNeDit |
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April to June 2016 | Vol 9 | Issue 2 | Page No 1 | |||
Pathways to Cure | |||
The endpoint of research in human biology is
cure of diseases and improvement in the quality
and longevity of life. DNA, the basic molecule of
life, has been the target of study and treatment
over the last few decades. Techniques to correct
the gene defect underlying Mendelian disorders
are being pursued along with various forms of Shubha R Phadke |
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Clinical Vignette |
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April to June 2016 | Vol 9 | Issue 2 | Page No 2-4 | ||||||
Fetal myopericytoma: a rare tumour with good prognosis | ||||||
fleported here is a case of fetal myopericytoma,
investigated by prenatal ultrasound and conrmed
by autopsy and histopathological examination after
termination of pregnancy. On antenatal
ultrasonography, there was a large, multicystic
neck mass with enhanced Doppler flow in the
fetus at 20 weeks gestation. Parents termina Mamatha Gowda 1, Susheela Jaiswal 2 and Shubha Phadke 3 * |
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Abstract | HTML Full Text | Download PDF |
GeNeViSTA |
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April to June 2016 | Vol 9 | Issue 2 | Page No 5-14 | ||||||
The Clinical Spectrum of RASopathies | ||||||
The flASopathies are a specific group of genetic
syndromes that occur as a result of germline
mutations in genes encoding proteins of the
flas–mitogen-activated protein kinase "flAS–MAPK)
pathway "Fig 1). These developmental disorders
include Neurofibromatosis type 1 "NF1), the
first flASopathy identified, followed by Noonan Divya Agarwal, Ratna D Puri, Achint Kaur, Sunita Bijarnia-Mahay and IC Verma |
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Abstract | HTML Full Text | Download PDF |
GeNeViSTA |
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April to June 2016 | Vol 9 | Issue 2 | Page No 15-29 | ||||||
An approach to genetic disorders affecting the white matter | ||||||
The white matter lies beneath the gray matter and
consists of millions of nerve fibre bundles (axons)
that serve as functional circuits linking different
regions of the brain. White matter forms the bulk
of the deep parts of the brain and the superficial
parts of the spinal cord. Aggregates of gray matter
are spread within the cerebral white matter. The Vijayalakshmi SR and Prajnya Ranganath |
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Abstract | HTML Full Text | Download PDF |
GeNeXprESS |
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April to June 2016 | Vol 9 | Issue 2 | Page No 30-31 | ||||||
Therapy for genetic disorders: How far have we come? | ||||||
Achondroplasia is the most common chondrodysplasia
in humans. Gain of function mutation in the
FGFR3 causes achondroplasia. FGFR3 is a receptor
tyrosine kinase, which negatively regulates growth
plate activity, leading to short stature. C Natriuretic
Peptide (CNP) was identied as an antagonist of
fgfr3 in mouse models. CNP has a low plasma half Dhanya Lakshmi |
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Abstract | HTML Full Text | Download PDF |
PhotoQuiz |
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April to June 2016 | Vol 9 | Issue 2 | Page No 33 | This 3 year old male child presented with global developmental delay, growth failure and
coarse facies. Radiographs of the pelvis, bilateral hip joints, femurs and knee joints and left
hand are shown. Results of the metabolic testing done are also shown. Identify the condition. Dr. Shubha R Phadke |
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Announcements |
1. Fifteenth ICMR Course in Medical Genetics & Genetic Counseling 2. "To Develop a Scientific Program for Research on Rare Diseases" 3. National Task Force Multicentric Collaborative Study of the Clinical Biochemical and Molecular Characterization of Lysosomal Storage Disorders in India |
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