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Volume 9 | Issue 4 | October to December 2016 |
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GeNeDit |
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| October to December 2016| Vol 9 | Issue 4 | Page No 1 | |||
| Putting Together the Pieces of the Genome Puzzle: Steps towards a Clear Picture | |||
| DNA is the basic molecule and genetics is the
basic science for biology and medicine. This truth
is getting wider acceptance by the medical community
as nowadays any disease of any system,
monogenic to multifactorial and infectious disease
to cancers, needs a molecular diagnosis. Cancer Shubha R Phadke |
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Clinical Vignette |
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| October to December 2016| Vol 9 | Issue 4 | Page No 2-4 | ||||||
| Leri-Weill Dyschondrosteosis Caused by SHOX Gene Deletion: A Case Report | ||||||
| Leri-Weill dyschondrosteosis is a dominantly inherited
skeletal dysplasia characterized by the classic
triad of short stature, mesomelia and Madelung
wrist deformity, which is caused by mutation in
the SHOX gene. We report the case of a 14 years
old girl with short stature and forearm deformity Bharti Singh and Shubha R Phadke |
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| Abstract | HTML Full Text | Download PDF |
GeNeViSTA |
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| October to December 2016| Vol 9 | Issue 4 | Page No 3-12 | ||||||
| Clinical Cytogenetics in the Diagnosis and Prognosis of Leukemias | ||||||
| Leukemias are a group of disorders characterized
by accumulation of malignant white cells in the
bone marrow and blood. They are neoplastic,
clonal disorders of the hematopoietic stem cells.
They can be broadly classified as acute and chronic
leukemias. The term acute, historically referring Krishna Reddy CH and Ashwin Dalal |
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| Abstract | HTML Full Text | Download PDF |
GeNeViSTA |
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| October to December 2016| Vol 9 | Issue 4 | Page No 13-17 | ||||||
| Diagnostic Yield of Exome Sequencing in Neurodevelopmental Disorders | ||||||
| Neurodevelopmental disorders affect around 3-5%
of the population. These are heterogeneous in
etiology and more bettingly termed symptom
complexes. The various disorders presenting
with intellectual disability may be congenital or
acquired, sporadic or familial, syndromic or non Moirangthem Amita and Shubha R Phadke |
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| Abstract | HTML Full Text | Download PDF |
GeNeXprESS |
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| October to December 2016| Vol 9 | Issue 4 | Page No 18-19 | ||||||
| Next Generation & Beyond... | ||||||
| The Exome Aggregation Consortium or the ExAC
is an effort to aggregate and harmonise exome
sequencing data from various sequencing projects
around the world. The group in its first publication
has published the analysis of genetic variation in
protein coding regions of the human genome in Karthik Tallapaka and Prajnya Ranganath |
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| Abstract | HTML Full Text | Download PDF |
PhotoQuiz |
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| October to December 2016| Vol 9 | Issue 4 | Page No 21 | The sequencing track below shows a part of sequence from beta globin gene in a carrier for
Thalassemia. The normal sequence of... Dr. Ashwin Dalal |
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| View PhotoQuiz | Click here to send your answer |
GeNeToon |
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| Black and white little banded bar, How I wonder what you are Down through the microscope I gaze, Trying to focus through the haze How do I identify each one in this mix, Amongst the chromosomes forty and six... |
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GeNeEvent - FetalMed2016 |
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| FetalMed 2016, the Annual Congress of the
Society of Fetal Medicine, was held at Kolkata
from 9th-11th September, 2016. The event was
attended by delegates from all over India and from
many countries across the globe including the USA,
UK, France, Thailand, Afghanistan, Bangladesh and
Australia. The event was co-hosted by the Bengal
Obstetrics and Gynecological Society. It included
one day of workshops and two days of conventional
symposia. The workshops were crafted to... |
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GeNeImage |
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| Beauty in Symmetry |
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Announcements |
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| 1. Dr S S Agarwal Young Scientist Award 2016 | |||
| 2. Dr I C Verma Outstanding Researcher Award 2016 | |||
| 3. Manipal Genetics Update III: Skeletal dysplasia | |||
| 4. Third International Conference on Birth Defects (ICBD-2016) & Third National Conference of the Society for Indian Academy of Medical Genetics (SIAMG) | |||
| 5. Genzyme−SIAMG Fellowship in Clinical Genetics | |||
| 6. Task Force on Lysosomal Storage Disorders | |||
| Download PDF |