| E-mail ID : info@iamg.in |
| E-mail ID : info@iamg.in |
Online Submission |
| Click Here For Online Submission |
| Instructions for authors |
Genetic Clinics |
| Editorial board |
Get Our Newsletter |
| Subscribe |
Send Your Feedback |
| Feedback Form |
About Us |
| IAMG |
Volume 17 | Issue 1 | January - March 2024 |
| Download Complete Issue |
| View Complete Issue |
GeNeDit |
|||
| January - March 2024 | Vol 17 | Issue 1 | Page No 01 | |||
| Medical Genetics in India: Coming of Age | |||
| The Society for Indian Academy of Medical Genetics (SIAMG) was formed in 2012 and is now more than a decade old. Last month the eighth conference of SIAMG (IAMG 2023) was held successfully in New Delhi. The scientific program was excellent and reflected the current areas of research. The posters and oral pres... Dr Shubha Phadke |
|||
| HTML Full Text | Download PDF |
| PhotoQuiz-63 | ||||
| January - March 2024 | Vol 17 | Issue 1 | Coverpage | ||||
| This 9-year-old boy was referred for evaluation of short stature and bony deformities. Identify the condition....
Dr Prajnya Ranganath |
||||
| View PhotoQuiz | Send Answer |
Clinical Vignette |
||||||
| January - March 2024 | Vol 17 | Issue 1 | Page No 02 | ||||||
| An Intriguing Case of Neonatal Diabetes Mellitus | ||||||
| Neonatal diabetes mellitus (NDM) is a rare cause of monogenic diabetes diagnosed usually before 6 months of age. We report a case of permanent NDM in a 4-month-old infant girl who presented with diabetic ketoacidosis. She had a past history of refractory epileptic spasms and developmental delay. Genetic analy... Jyotsna Padmanabhan1, Shaila S Bhattacharyya1, Bidisha Banerjee2 |
||||||
| Abstract | HTML Full Text | Download PDF |
Clinical Vignette |
||||||
| January - March 2024 | Vol 17 | Issue 1 | Page No 05 | ||||||
| Unusual Manifestation of a Rare Disorder: Type XIV Osteogenesis Imperfecta Presenting as Fetal Hydrops | ||||||
| Osteogenesis imperfecta (OI) is a group of inherited disorders characterised by decreased bone density and increased susceptibility to fractures. In addition to the classic COL1A1/ COL1A2- associated autosomal dominant (AD) OI, close to 20 more types have been identified in recent years. Type XIV OI is a very... Roopadarshini B1, Sreeja P1, Ashwin Dalal2, Prajnya Ranganath1 |
||||||
| Abstract | HTML Full Text | Download PDF |
GeneFocus |
||||||
| January - March 2024 | Vol 17 | Issue 1 | Page No 09 | ||||||
| Phenotype First or Genotype First: The Conundrum | ||||||
| Evaluation of patients with suspected genetic disorders as well as gene disease research has predominantly relied on studying the signs and symptoms (phenotyping) of patients or research cohort, followed by doing appropriate genetic tests (genotyping) to diagnose the genetic condition or characterize the caus ... Divya Agarwal1, Meenakshi Lallar2, Chaitanya Datar3, Koumudi Godbole4 |
||||||
| Abstract | HTML Full Text | Download PDF |
GeNeXprESS |
|||||
| January - March 2024 | Vol 17 | Issue 1 | Page No 13 | |||||
| What Diagnoses Are Missed in Next-Generation Sequencing? | |||||
| Exome sequencing is quite popular among the clinicians for diagnosis of rare Mendelian disorders but is often non-diagnostic even when we have a strong clinical suspicion of a monogenic disorder. A proportion of them are solved by... Katta M Girisha |
|||||
| Full Text | Download PDF |
GeneEvent |
|||||
| GeneEvent | |||||
| Eighth Annual Conference of the Society for Indian Academy of Medical Genetics (IAMG 2023) | |||||
| View |
Announcements |
|||||
| Announcements | |||||
|
1. SIAMG Fellowship Program in Prenatal Genetics 2. SIAMG Fellowship Program in Clinical Genetics |
|||||
| Download PDF |