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 1 of 5

Editorial

Authors: Jayesh Sheth

Citation: Molecular Cytogenetics 2014 7(Suppl 1):A1

Content type: Introduction Published on: 21 January 2014
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Human variome project – current overview

Authors: Richard Cotton

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I1

Content type: Speaker presentation Published on: 21 January 2014
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3D facial phenotyping

Authors: Peter Hammond

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I2

Content type: Speaker presentation Published on: 21 January 2014
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Prakruti genomics and prameha-proclivity: relevance to metabolic syndrome

Authors: Ashok DB Vaidya

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I3

Content type: Speaker presentation Published on: 21 January 2014
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Next generation diagnostics on cardiomyopathy

Authors: Jean-Louis Blouin, Jeremy Bevillard, Periklis Makrythanasis, Michel Guipponi, Federico Santoni, Stylianos E Antonarakis and Siv Fokstuen

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I4

Content type: Speaker presentation Published on: 21 January 2014
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Genetics of cardiovascular disorders: influence of maternal nutrition

Authors: Sukhinder K Cheema

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I5

Content type: Speaker presentation Published on: 21 January 2014
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Affordable diagnosis and prevention of genetic disease

Authors: John Burn

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I6

Content type: Speaker presentation Published on: 21 January 2014
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An empirical assay for assessing genomic sensitivity and for improving cancer diagnostics

Authors: Diana Anderson

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I7

Content type: Speaker presentation Published on: 21 January 2014
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Mutational landscape of gingivo-buccal oral cancer: new cancer genes and molecular subgroups identified

Authors: Partha P Majumder

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I8

Content type: Speaker presentation Published on: 21 January 2014
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Functional genomics of lung cancer progression reveals mechanism of metastasis suppressor function

Authors: Ram Krishna Thakur, Vinod Kumar Yadav, Akinchan Kumar, Richa Basundra, Anirban Kar, Rashi Halder, Ankita Singh, Pankaj Kumar, Aradhita Baral, MJ Mahesh Kumar, Krishnendu Pal, Rajkumar Banerjee and Shantanu Chowdhury

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I9

Content type: Speaker presentation Published on: 21 January 2014
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Non-coding RNA based regulation of blood vessel development in zebrafish and relevance to humans

Authors: Sridhar Sivasubbu

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I10

Content type: Speaker presentation Published on: 21 January 2014
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Small supernumerary marker chromosomes – an update

Authors: Thomas Liehr

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I11

Content type: Speaker presentation Published on: 21 January 2014
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Molecular cytogenetic characterization of chromosomal rearrangements - utility in genetic counseling and research

Authors: Ashwin Dalal

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I12

Content type: Speaker presentation Published on: 21 January 2014
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Microdeletion syndromes

Authors: Chaitanya Datar

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I13

Content type: Speaker presentation Published on: 21 January 2014
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Non-invasive prenatal diagnosis using massively parallel sequencing - first experience in Germany

Authors: Rolf-Dieter Wegner, Markus Stumm and Wera Hofmann

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I14

Content type: Speaker presentation Published on: 21 January 2014
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Basic principles of prenatal screening for aneuploidies

Authors: Prakash Gambhir

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I15

Content type: Speaker presentation Published on: 21 January 2014
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Prenatal screening for Mendelian disorders in antenatal care

Authors: Amar Verma

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I16

Content type: Speaker presentation Published on: 21 January 2014
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Non-invasive prenatal testing (NIPT): a better option for patients

Authors: Ashish Fauzdar

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I17

Content type: Speaker presentation Published on: 21 January 2014
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Molecular diagnosis of genodermatoses in india

Authors: Parag Tamhankar

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I18

Content type: Speaker presentation Published on: 21 January 2014
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Genetics of male infertility: Indian scenario

Authors: K Thangaraj

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I19

Content type: Speaker presentation Published on: 21 January 2014
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Fertility options and challenges for patients with cytogenetic infertility & disorders of sex development

Authors: Rama Ashok Vaidya and Jaya Gogte

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I20

Content type: Speaker presentation Published on: 21 January 2014
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Uniparental disomy - clinical consequences due to imprinting and activation of recessive genes

Authors: Thomas Liehr

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I21

Content type: Speaker presentation Published on: 21 January 2014
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Epigenetic regulation of double c2 like domain beta (Doc2b) in cervical cancer

Authors: K Satyamoorthy, Samatha Bhat, Harish Rotti and K Shamaprasada

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I22

Content type: Speaker presentation Published on: 21 January 2014
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In search of epi-driver genes in head and neck cancer

Authors: Sumana Bhattacharjya, Kumar Singha Roy, Nitai P Bhattacharyya and Susanta Roychoudhury

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I23

Content type: Speaker presentation Published on: 21 January 2014
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Birth defects: etiology to prevention

Authors: Koumudi Godbole

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I24

Content type: Speaker presentation Published on: 21 January 2014
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Genomic packaging and epigenetic regulation of genes

Authors: Rakesh Mishra

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I25

Content type: Speaker presentation Published on: 21 January 2014
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Exome sequencing in unspecific intellectual disability and rare disorders

Authors: Anita Rauch

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I26

Content type: Speaker presentation Published on: 21 January 2014
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New paradigms in whole genome sequencing: from lab bench to cell phone

Authors: Jonathan O’Halloran

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I27

Content type: Speaker presentation Published on: 21 January 2014
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Personal genomes to precision medicine

Authors: Vinod Scaria

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I28

Content type: Speaker presentation Published on: 21 January 2014
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Enzyme replacement therapy for lysosomal storage disorders in India

Authors: Mamta Muranjan

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I29

Content type: Speaker presentation Published on: 21 January 2014
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Molecular study of lysosomal storage disorders in India

Authors: Jayesh Sheth

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I30

Content type: Speaker presentation Published on: 21 January 2014
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The advantages of SNP arrays over CGH arrays

Authors: Boris Keren

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I31

Content type: Speaker presentation Published on: 21 January 2014
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Cytogenetic microarray in prenatal and postnatal diagnosis

Authors: Shubha Phadke

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I32

Content type: Speaker presentation Published on: 21 January 2014
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Genomic copy number variations in glaucomatous neurodegeneration

Authors: Arijit Mukhopadhyay

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I33

Content type: Speaker presentation Published on: 21 January 2014
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Clinical utility and dilemmas of SNP microarray testing

Authors: Virginia Kimonis

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I34

Content type: Speaker presentation Published on: 21 January 2014
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Detection and Inheritance Pattern of Copy Number Variations (CNVs) in Children with Multiple Congenital Anomalies

Authors: Frenny Sheth

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I35

Content type: Speaker presentation Published on: 21 January 2014
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Neuroferritinopathy: iron in the brain

Authors: John Burn

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I36

Content type: Speaker presentation Published on: 21 January 2014
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Clinical aspects of neuroregression: our experience on batten disease

Authors: Mahesh Kamate

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I37

Content type: Speaker presentation Published on: 21 January 2014
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Early stress evokes age-dependent biphasic changes in hippocampal neurogenesis, epigenetic regulation of the bdnf gene, and cognitive behavior

Authors: Vidita Vaidya

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I38

Content type: Speaker presentation Published on: 21 January 2014
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Dysmorphology of inborn errors of metabolism

Authors: Virginia Kimonis

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I39

Content type: Speaker presentation Published on: 21 January 2014
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New born screening program in India: ICMR multicentric experience

Authors: Roli Mathur

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I40

Content type: Speaker presentation Published on: 21 January 2014
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Newborn screening- the roadmap for India

Authors: Seema Kapoor

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I41

Content type: Speaker presentation Published on: 21 January 2014
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Treatment of inborn errors of metabolism

Authors: Anil B Jalan

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I42

Content type: Speaker presentation Published on: 21 January 2014
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Thalassemias: can we reduce the national burden?

Authors: Roshan Colah

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I43

Content type: Speaker presentation Published on: 21 January 2014
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Haemophilia - diagnosis and management challenges

Authors: Shrimati Shetty

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I44

Content type: Speaker presentation Published on: 21 January 2014
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Current status of sickle cell disease in India: how can you attenuate?

Authors: Dipika Mohanty

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I45

Content type: Speaker presentation Published on: 21 January 2014
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Community genetics approaches in the prevention of beta-thalassemia: towards achieving ‘Zero beta-thalassemia’ status in India

Authors: V R Rao

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I46

Content type: Speaker presentation Published on: 21 January 2014
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Chromosomal instability and molecular mutations in multi spectrum disease of Fanconi anemia

Authors: Babu Rao Vundinti

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I47

Content type: Speaker presentation Published on: 21 January 2014
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Unlocking the chemistry of bile acids for cancer therapeutics

Authors: Avinash Bajaj

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I48

Content type: Speaker presentation Published on: 21 January 2014
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Pre-implantation and polar body diagnosis in cases of parental chromosomal translocations applying array-CGH

Authors: Rolf-Dieter Wegner, Markus Stumm, Heide Mundt and Matthias Bloechle

Citation: Molecular Cytogenetics 2014 7(Suppl 1):I49

Content type: Speaker presentation Published on: 21 January 2014
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Proceedings of the International Conference on Human Genetics and 39th Annual Meeting of Indian Society of Human Genetics

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