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Volume 10 | Issue 1 | January to March 2017 |
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GeNeDit |
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January to March 2017| Vol 10 | Issue 1 | Page No 1 | |||
Care and Cure | |||
A major part of medical genetics activities continue
to revolve around diagnosis, counseling and
prenatal diagnosis. Cure still is not on the horizon
for many disorders though the hope of gene
therapy is alive and bright. The power of genomic
techniques like microarray and next generation Shubha R Phadke |
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Clinical Vignette |
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January to March 2017| Vol 10 | Issue 1 | Page No 2-4 | ||||||
An Unexpected Cause of Macrocephaly in a Child with Leukodystrophy | ||||||
Leukodystrophies are a heterogeneous group of genetic
disorders predominantly involving the white
matter of the brain, which are characterised by
progressive psychomotor regression and abnormal
neuroimaging ndings. Macrocephaly is an important
clinical nding which helps to considerably Karthik Tallapaka 1, 2, Jamal Md Nurul Jain 2, Ashwin Dalal 2 and Prajnya Ranganath 1, 2* |
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Abstract | HTML Full Text | Download PDF |
GeNeViSTA |
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January to March 2017| Vol 10 | Issue 1 | Page No 5-8 | ||||||
The Utility and Futility of Targeted Next Generation Sequencing for Carrier Detection in At Risk Couples | ||||||
Next generation sequencing has changed the approach
to genetic diagnosis and testing in recent
times. The days have arrived when a molecular
genetic diagnosis can be attempted even without
the availability of the proband or affected person.
However this requires additional strong evidence Sunita Bijarnia-Mahay 1*, Deepti Gupta 1, V L Ramprasad 2, Sakthivel Murugan 2, Renu Saxena 1, Sudha Kohli 1, Seiji Yamaguchi 3, Yosuke Shigematsu 4 and I C Verma 1 |
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Abstract | HTML Full Text | Download PDF |
GeNeViSTA |
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January to March 2017| Vol 10 | Issue 1 | Page No 9-17 | ||||||
Osteogenesis Imperfecta: An Update | ||||||
Osteogenesis imperfecta "OI) is a rare, heritable
systemic disorder of bone and connective tissue
that has varying phenotypic heterogeneity -varying
degree of bone fragility, blue sclerae, dentinogenesis
imperfecta, short stature, scoliosis, and joint
hyperextensibility. For decades only autosomal Vartika Giri, Priyanka Srivastava, Meenakshi Lallar and Shubha R Phadke∗ |
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Abstract | HTML Full Text | Download PDF |
GeNeXprESS |
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January to March 2017| Vol 10 | Issue 1 | Page No 18-19 | ||||||
Marching Towards Perfection | ||||||
Monogenic causes of ribosomal dysfunction can
confer a remarkable degree of specificity in terms
of human disease phenotype. Box C/D small nucleolar
RNAs "snoRNAs) are evolutionarily conserved
non-protein-coding RNAs involved in ribosome biogenesis.
Biallelic mutations in the gene SNORD118, Aradhana Dwivedi |
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PhotoQuiz |
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January to March 2017| Vol 10 | Issue 1 | Page No 20 | This three-year-old boy presented with generalized edema, global developmental delay,
coarse facies, gum hypertrophy, short stature and bilateral cherry red spots in the fundus. He... Dhanya Lakshmi N and Shubha R Phadke |
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GeNeEvent - Third International Conference on Birth Defects & Third National Conference of the Society for Indian Academy of Medical Genetics |
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On the occasion of Childrens day on 14th November 2016, the Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow organised Down Syndrome Milan Samaroh. The program aimed to provide information, foster speech and occupational physiotherapy and highlight... |
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Announcements |
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1. Manipal Genetics Update on Genetic Counseling | |||
2. 42nd Annual Meeting of the Indian Society of Human Genetics & International Symposium on Trends in Human Genetic Research & Management | |||
3. ISIEM 2017 | |||
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