Publications by authors named "Chaitanya Datar"

14Publications

GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.

BMC Pediatr 2016 07 11;16:88. Epub 2016 Jul 11.

Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015, Gujarat, India.

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http://dx.doi.org/10.1186/s12887-016-0626-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939586PMC
July 2016

Lysosomal Storage Disorders in Indian Children with Neuroregression Attending a Genetic Center.

Indian Pediatr 2015 Dec;52(12):1029-33

Department of Biochemical and Molecular Genetics, FRIGEs Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad; Department of Pediatric Neurology and Child Development Centre, KLES Prabhakar Kore Hospital, Belgaum, Karnataka; * Department of Medicine, Sheth VS Hospital, Ellisbridge, Ahmedabad; and Department of Genetics, Sahyadri Medical Genetics and Tissue Engineering facility (SMGTEF), Pune; India. Correspondence to: Dr Jayesh J Sheth, Department of Biochemical and Molecular Genetics, FRIGEs Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380 015, India.

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http://indianpediatrics.net/dec2015/1029.pdf
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http://dx.doi.org/10.1007/s13312-015-0768-xDOI Listing
December 2015

First reported case of Charcot Marie Tooth disease type 4C in a child from India with SH3TC2 mutation but absent spinal deformities.

Neurol India 2015 May-Jun;63(3):395-8

Department of Pediatric Neurology, Deenanath Mangeshkar Hospital, Pune, Maharashtra, India.

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http://dx.doi.org/10.4103/0028-3886.158222DOI Listing
June 2015

Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality.

Clin Med Insights Pediatr 2014 17;8:45-9. Epub 2014 Sep 17.

Foundation for Research in Genetics and Endocrinology's Institute of Human Genetics, FRIGE House, Ahmedabad, India.

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http://dx.doi.org/10.4137/CMPed.S18121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4179602PMC
October 2014

Expanding the spectrum of mutations in Indian patients with Tay-Sachs disease.

Mol Genet Metab Rep 2014 29;1:425-430. Epub 2014 Sep 29.

Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380015, India.

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https://linkinghub.elsevier.com/retrieve/pii/S22144269140006
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http://dx.doi.org/10.1016/j.ymgmr.2014.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121347PMC
September 2014

Microdeletion syndromes.

Authors:
Chaitanya Datar

Mol Cytogenet 2014 21;7(Suppl 1 Proceedings of the International Conference on Human):I13. Epub 2014 Jan 21.

Sahyadri Genetics, Unit of Sahyadri Hospitals, Barve Memorial Complex, J.M. Road, Pune, India.

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http://dx.doi.org/10.1186/1755-8166-7-S1-I13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4042553PMC
June 2014