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Volume 12 | Issue 3 | July to September 2019 |
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GeNeDit |
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| July to September 2019| Vol 12 | Issue 3 | Page No 1 | |||
| The Eyes See What the Mind Knows! | |||
| Clinical acumen had and will continue to have a very important role in the diagnosis of patients. This was a matter of pride for senior clinicians and as students we used to admire teachers for diagnosing rare disorders and rare clinical presentations. Investigations were done to confirm the diagnosis and stamp the clinical expertise of an experienced physician. This clinical expertise was | |||
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Clinical Vignette |
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| July to September 2019| Vol 12 | Issue 3 | Page No 2-5 | ||||||
| Aicardi-Goutieres Syndrome - Expanding the Phenotypic Spectrum | ||||||
| Aicardi-Goutieres syndrome (AGS) is a rare inherited autosomal recessive condition. A number of different phenotypic presentations of AGS have been identified in recent years. This report describes an infant with AGS type 1, who presented with a neonatal lupus-like phenotype
Ami Shah1, Snehal Mallakmir1, Mitusha Verma2, Rashid Merchant1 |
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GeNeViSTA |
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| July to September 2019| Vol 12 | Issue 3 | Page No 5-13 | ||||||
| Congenital Myopathies: An Overview | ||||||
| Congenital myopathies (CM) are a clinically and genetically heterogeneous group of disorders affecting the skeletal muscles. Hypotonia, hyporeflexia and muscle weakness are common clinical presentations but the severity can be very variable ranging from the severe form with
Gayatri Nerakh1 , Megha Uppin2 , Prajnya Ranganath1 |
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GeNeViSTA |
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| July to September 2019| Vol 12 | Issue 3 | Page No 14-17 | ||||||
| Pseudogenes: Implications in Disease and Diagnostics | ||||||
| The genome is the complete set of deoxyribonucleic acid (DNA) in an organism. Human cells contain two copies of the haploid genome consisting of 3 × 109 base pairs of DNA. Only 1-2% of the mammalian genome codes for the protein function and remaining codes for
Divya Pasumarthi, Ashwin Dalal |
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GeNeXprESS |
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| July to September 2019| Vol 12 | Issue 3 | Page No 18-19 | ||||||
| Exome to Genome Sequencing: Re-look Before You Leap!! | ||||||
| The widespread use of exome sequencing (ES) in clinical practice has revolutionized the diagnosis of Mendelian disorders. But 50 to 75% of patients undergoing ES still remain without a diagnosis. Whole genome sequencing is an option to fill this lacuna and has been reported Amita Moirangthem |
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PhotoQuiz |
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| July to September 2019| Vol 12 | Issue 3 | Page No 20 | This 18-months-old male child, born to nonconsanguineous parents, was referred for evaluation of inflammatory swellings of the left lower leg and right arm. He had low grade fever at the time of onset of the swellings. He had history of a similar swelling in the right Dr Atanu Kumar Dutta |
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GeNeEvent |
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| The Seventh International Conference on Rare and Undiagnosed Diseases |
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Announcements |
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| 1. Indo-US Symposium on Genetic Neuromuscular Disorders & The Sixth Annual Conference of the Society for Indian Academy of Medical Genetics (SIAMGCON 2019) 2. Eighteenth ICMR Course in Medical Genetics & Genetic Counseling 3. Fellowship in Genetic Diagnostics – Call for Applications |
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