Volume 7 Supplement 1

Proceedings of the International Conference on Human Genetics and 39th Annual Meeting of Indian Society of Human Genetics

Meeting abstracts

The conference and publication charges for this supplement were funded through the co-sponsorship of the Gujarat State Biotechnology Mission (GSBTM) and Department of Science and Technology (DST), Government of Gujarat, Genzyme and Zydus Cadila. Genzyme and Zydus Cadila were not involved in the selection of abstracts.

International Conference on Human Genetics and 39th Annual Meeting of the Indian Society of Human Genetics (ISHG). Go to conference site.

Ahmedabad, India23-25 January 2014

Concatenated PDF 7S1

Page 4 of 5

Microarray based global transcriptome profiling reveals involvement of non-Hsa21 genes and microRNAs in molecular mechanism of Down syndrome pathogenesis

Authors: Ashutosh Pathak, Divya Agarwal and Shubha R Phadke

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P132

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
Utility of CD-138 negative fraction for chromosome analysis in Plasma Cell Dyscrasias (PCD): a novel approach

Authors: Gopalrao Velagaleti, Christina Mendiola, Gihan Mohamed, William Ehman Jr., Vinaya Noronha and Veronica Ortega

Citation: Molecular Cytogenetics 2014 7(Suppl 1):O5

Content type: Oral presentation Published on: 21 January 2014
- View Full Text
- View PDF
Association of PKD1 sequence variants with pathophysiology of ADPKD in Indian patients

Authors: Sonam Raj, RG Singh and Parimal Das

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P31

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
Consanguinity and perinatal medicine - the berlin perspective

Authors: Rolf Becker

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I51

Content type: Speaker presentation Published on: 21 January 2014
- View Full Text
- View PDF
Pharmacogenetics: polymorphism and genotype-phenotype correlation of drug response in indian population

Authors: Harish Padh

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I52

Content type: Speaker presentation Published on: 21 January 2014
- View Full Text
- View PDF
Pharmacogenomics of cardiovascular drugs

Authors: C Adithan

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I53

Content type: Speaker presentation Published on: 21 January 2014
- View Full Text
- View PDF
Point of care testing for improving risk- benefit ratio of aspirin and warfarin

Authors: Harsh Sheth, Emma Northwood, Faye Elliott, Michael Jackson, Mauro Santibanez Koref, John Tyson, Ann Daly, Jonathan O’Halloran, Jayesh Sheth, Frenny Sheth, Keyur Parikh, D Timothy Bishop and John Burn

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I54

Content type: Speaker presentation Published on: 21 January 2014
- View Full Text
- View PDF
Digital health, microfluidics, and bedside genetic testing

Authors: Syed Hashsham

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I55

Content type: Speaker presentation Published on: 21 January 2014
- View Full Text
- View PDF
G protein signaling in tumor cell growth and metastasis

Authors: Danny Dhanasekaran

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I56

Content type: Speaker presentation Published on: 21 January 2014
- View Full Text
- View PDF
Vitiligo: a complex disease and a complex approach

Authors: Rasheedunnisa Begum, Yogesh S Marfatia, Naresh C Laddha, Mitesh Dwivedi, Mohmmad Shoab Mansuri and Mala Singh

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I57

Content type: Speaker presentation Published on: 21 January 2014
- View Full Text
- View PDF
STR Markers in clinics: a rapid prenatal diagnosis by quantitative fluorescent-pcr for aneuploidies

Authors: Sarita Agarwal, M Srinivasan and Shubha Phadke

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I58

Content type: Speaker presentation Published on: 21 January 2014
- View Full Text
- View PDF
Mitochondrial donation by stem cells: potential for novel therapeutics

Authors: Anurag Agrawal

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I59

Content type: Speaker presentation Published on: 21 January 2014
- View Full Text
- View PDF
Haematopoetic stem cell transplantation at apollo group hospitals

Authors: Chirag Shah

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I60

Content type: Speaker presentation Published on: 21 January 2014
- View Full Text
- View PDF
A Poisson regression model for association mapping of count phenotypes

Authors: Saurabh Ghosh and Abhishek Chakrabortty

Citation: Molecular Cytogenetics 2014 7(Suppl 1):O1

Content type: Oral presentation Published on: 21 January 2014
- View Full Text
- View PDF
Therapeutic potential of histone deacetylase inhibitor for treatment of Niemann-Pick type C1 disease

Authors: Nina H Pipalia and Frederick R Maxfield

Citation: Molecular Cytogenetics 2014 7(Suppl 1):O2

Content type: Oral presentation Published on: 21 January 2014
- View Full Text
- View PDF
Genetics of autism spectrum disorder & BDNF gene

Authors: Usha P Dave

Citation: Molecular Cytogenetics 2014 7(Suppl 1):O3

Content type: Oral presentation Published on: 21 January 2014
- View Full Text
- View PDF
Identification and clinical evaluation of segments of homozygosity, uniparental disomy and complex chromosomal abnormalities revealed by copy-number SNP arrays

Authors: Jia-Chi Wang, Leslie Ross, Loretta W Mahon, Renius Owen, Morteza Hemmat, Boris T Wang, Mohammed El Naggar, Kimberly A Kopita, Mary Haddadin, Fatih Z Boyar, Arturo Anguiano, Charles M Strom and Trilochan Sahoo

Citation: Molecular Cytogenetics 2014 7(Suppl 1):O4

Content type: Oral presentation Published on: 21 January 2014
- View Full Text
- View PDF
Prenatal screening above aneuploidies that is Pre-Eclampsia

Authors: Gurjit Kaur

Citation: Molecular Cytogenetics 2014 7(Suppl 1):O6

Content type: Oral presentation Published on: 21 January 2014
- View Full Text
- View PDF
Suspected microdeletion syndromes and molecular cytogenetic techniques: an experience with 330 cases

Authors: Ashutosh Halder, Manish Jain and Isha Chaudhary

Citation: Molecular Cytogenetics 2014 7(Suppl 1):O7

Content type: Oral presentation Published on: 21 January 2014
- View Full Text
- View PDF
Molecular characterization of mutations in galactosemia genes: structural and functional implications

Authors: R Singh, BR Thapa, G Kaur and R Prasad

Citation: Molecular Cytogenetics 2014 7(Suppl 1):O8

Content type: Oral presentation Published on: 21 January 2014
- View Full Text
- View PDF
Diagnostic utility of array-based Comparative Genomic Hybridization in a clinical setting

Authors: Frenny Sheth, Chaitanya Datar, Koumudi Godbole, Joris Andrieux, Manisha Desai, Bhumi Patel and Jayesh Sheth

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P2

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
Combined classical cytogenetics and array Comparative Genomic Hybridisation for genomic copy number analysis

Authors: Meena Lall, Pushpa Saviour, Ratna Puri, Preeti Paliwal, Surbhi Mahajan and Ishwar Verma

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P3

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
A study of human Kallikrein-2 gene polymorphism with special reference to prostate cancer patients in India

Authors: Rajesh Biswas, Shiv Deep Bansal, Kakoli Biswas and Shrawan K Singh

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P4

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
In silico screening of alleged miRNAs associated with cell competition: an emerging cellular event in cancer

Authors: Manish S Patel, Bhavesh V Antala and Neeta Shrivastava

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P6

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
Analyzing the expression of candidate microRNAs in primary tumors of oral squamous cell carcinoma

Authors: Mayakannan Manikandan, Deva Magendhra Rao A K and Arasambattu Kannan Munirajan

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P7

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
The role of direct DNA repair gene O6-methylguanine-DNA methyltransferase (MGMT) in high grade malignant glioma

Authors: M Jeru Manoj, G K Chetan, KVL Narasinga Rao, HN Venkatesh, MK Sibin and Ch Lavanya

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P8

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
Correlation o P16 and Bmi1 gene expression in human high grade glioma

Authors: M K Sibin, GK Chetan, Ch Lavanya, Manoj M Jeru and Dhananjaya I Bhat

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P9

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
Promoter methylation of PTEN gene in high grade gliomas

Authors: C Lavanya, GK Chetan, MK Sibin, Manoj M Jeru and Bharath MM Srinivas

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P10

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
Role of p16 deletion and Bmi1 copy number variation in glioma

Authors: GK Chetan, M K Sibin, Dhananjaya I Bhat, Ch Lavanya, Manoj M Jeru and N Geethashree

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P11

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
Analysis of DNA damage in cells excreted in urine of cervical cancer patients using alkaline comet assay

Authors: Avani Patel, Mihir Shah, Pinaki Patel and Trupti Patel

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P12

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
Anti cancer activity of colon specific osmotic drug delivery of acetone extract of Quercus Infectoria Olivier, Fagaceae in 1,2-dimethylhydrazine-induced colon cancer in rats

Authors: Roshni Solanki, Dhaval Madat and Ramesh K Goyal

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P14

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
Genetic variation in PSCA gene and bladder cancer susceptibility in North Indian population

Authors: Praveen K Jaiswal, Vibha Singh, Rakesh Kapoor and Rama D Mittal

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P15

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
Replicative study of GWAS reported TP63C/T rs710521, TERTC/T rs2736098 and SLC14A1C/T rs17674580 with susceptibility to bladder cancer in North Indians

Authors: Vibha Singh, Praveen Kumar Jaiswal, Rakesh Kapoor and Rama Devi Mittal

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P16

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
Association of miR-27a, miR-181a and miR-570 genetic variants with gallbladder cancer susceptibility on North indian population

Authors: Annapurna Gupta, Kiran L Sharma, Annu Yadav, Vijay Kumar, Sanjeev Misra, Ashok Kumar and Balraj Mittal

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P17

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
Selection of suitable housekeeping genes for gene expression analysis in glioma using quantitative real-time PCR

Authors: Madhuri GS Aithal and Narayanappa Rajeswari

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P18

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
Development of allele specific hybridization assay and computer aided tool for detection of genetic variations in folate pathway genes

Authors: Ravishankara, Shreeshakala, S Padmalatha Rai, Kerthana Prasad, C Deepthi, PM Gopinath and K Satyamoorthy

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P19

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
Cytogenetic and interphase Fluorescence in Situ Hybridization studies in patients with multiple myeloma

Authors: G Perumal, RS Chandra, P Prabu, N Indhumathi, Anil Tarigopula and Rama Mani

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P20

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
APC is epigenetically down regulated in advance cases of gallbladder cancer

Authors: Dinesh Tekcham Singh, Satish Poojary, Shushruta Bhunia, Mustafa Ahmed Barbhuiya, Manisha Kakkar, Vishwajit Jalaj, Sanjeev Gupta, Braj Raj Shrivastav and Pramod Kumar Tiwari

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P21

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
Bladder-Exstrophy-Epispadias-Complex risk and C677T polymorphism in MTHFR gene: case-control study among Indian children

Authors: Abid Ali, Rajeev Kumar Pandey, Sukanya Gayan and Minu Bajpai

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P22

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
MLPA analysis of transcriptional gene(s) variations in patients with congenital heart septation defects

Authors: Rajasekhar Moka, Neetha John, Yashvanthi Borkar and K Ranjan Shetty

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P23

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
COL6A1 loss of function mutation underlie atrioventricular septal defects in down syndrome patients

Authors: Priyanka Ghosh, Pranami Bhaumik and Subrata K Dey

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P24

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
An intronic rare mutation in Presenilin-1 (PSEN-1) gene may be involved in the developement of Alzheimer’s disease

Authors: Pranami Bhaumik, Priyanka Ghosh and Subrata K Dey

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P25

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
Identification and characterization of disease causing genetic variant by conventional genotyping and whole genome sequencing in familial tooth agenesis

Authors: Tanmoy Sarkar, Rajesh Bansal and Parimal Das

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P26

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
Identification of NKX2-5 and GATA4 sequence variations in patients with cardiac septation defects

Authors: Yashvanthi Borkar, K Ranjan Shetty, K Krishnanand and Rajasekhar Moka

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P27

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
Factor V Leiden and MTHFR mutations as a combined risk factor for hypercoagulability in referred Patients population from Western India

Authors: Priya Bansal

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P28

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
RAGE gene polymorphism and expression: risk factor for vascular complications in type 2 diabetes mellitus

Authors: Diwesh Chawla, Savita Bansal, Pawan K Kare, Basu Basu Dev, Sri Venkata Madhu and Ashok K Tripathi

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P29

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
Association of Matrix Metalloproteinase 1 and 3 (MMP1 and MMP3) gene polymorphisms with susceptibility to ESRD risk in North Indian population

Authors: Archana Verma, Aneesh Shrivastava and Rama D Mittal

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P30

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
Identification of mutations in bone morphogenetic protein 2, 4 and 7 in congenital heart disease patients from Indian population

Authors: Ritu Bhardwaj, Damyanti Agrawal, Ashok Kumar and Bhagyalaxmi Mohapatra

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P32

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
Vitamin D Receptor (VDR) gene polymorphism and risk of ischemic stroke

Authors: Puttachandra Prabhakar, Rita Christopher and Dindagur Nagaraja

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P33

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF
Clinical characterization of Idiopathic Restrictive Cardiomyopathy having rare variant (E949K) in β-cardiac myosin heavy chain gene

Authors: Mitali Kapoor, Amitabh Biswas, Soumi Das, Sandeep Seth, Balram Bhargava and Vadlamudi Rao

Citation: Molecular Cytogenetics 2014 7(Suppl 1):P34

Content type: Poster presentation Published on: 21 January 2014
- View Full Text
- View PDF

Proceedings of the International Conference on Human Genetics and 39th Annual Meeting of Indian Society of Human Genetics

Meeting abstracts

Official journal of

Follow

Annual Journal Metrics

Molecular Cytogenetics

Contact us