Meenakshi Bhat

Meenakshi Bhat

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Meenakshi Bhat

Meenakshi Bhat

Publications by authors named "Meenakshi Bhat"

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19Publications

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Spectral Domain Optical Coherence Tomography in Detecting Sub-Clinical Retinal Findings in Asian Indian Children with Down Syndrome.

Curr Eye Res 2019 Aug 8;44(8):901-907. Epub 2019 Apr 8.

e Department of Ophthalmology, Narayana Nethralaya Eye Institute , Bangalore , India.

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http://dx.doi.org/10.1080/02713683.2019.1597128DOI Listing
August 2019

Clinical and Molecular Characterization of Prader-Willi Syndrome.

Indian J Pediatr 2017 Nov 29;84(11):815-821. Epub 2017 Jun 29.

Department of Pediatric Genetics, Indira Gandhi Institute of Child Health, South Hospital Complex, Dharmaram College Post, Bangalore, Karnataka, 560 029, India.

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http://link.springer.com/10.1007/s12098-017-2386-1
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http://dx.doi.org/10.1007/s12098-017-2386-1DOI Listing
November 2017

Mucolipidosis Type II Secondary to GNPTAB Gene Deletion from India.

J Pediatr Neurosci 2017 Jan-Mar;12(1):115-116

Department of Genetics, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.

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http://dx.doi.org/10.4103/1817-1745.205656DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437777PMC
May 2017

Papillon-Lefèvre syndrome with homozygous nonsense mutation of cathepsin C gene presenting with late-onset periodontitis.

Pediatr Dermatol 2015 Mar-Apr;32(2):292-4. Epub 2014 Jun 3.

Department of Dermatology, Venereology, and Leprosy, Sri Siddhartha Medical College, Tumkur, India.

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http://dx.doi.org/10.1111/pde.12357DOI Listing
December 2015

Missense and deletion mutations in GJA1 causing oculodentodigital dysplasia in two Indian families.

Clin Dysmorphol 2015 Oct;24(4):159-62

aCentre for Human Genetics, Biotech Park bDepartment of Pediatrics, Indira Gandhi Institute of Child Health, Bangalore cDepartment of Anatomy, Medical Genetics Division, Sri Siddhartha Medical College, Tumkur, Karnataka, India.

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http://dx.doi.org/10.1097/MCD.0000000000000094DOI Listing
October 2015

Mutations in ARSB in MPS VI patients in India.

Mol Genet Metab Rep 2015 Sep 17;4:53-61. Epub 2015 Jul 17.

Centre for Human Genetics (CHG), Bangalore, India.

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http://dx.doi.org/10.1016/j.ymgmr.2015.06.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750586PMC
September 2015

Social and cultural issues in genetic counselling.

Authors:
Meenakshi Bhat

J Biosci 2015 Jun;40(2):217-20

Centre for Human Genetics, Bangalore, India,

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http://dx.doi.org/10.1007/s12038-015-9528-2DOI Listing
June 2015

Two brothers with multiple cranial nerve palsies.

Indian J Pediatr 2015 Apr 20;82(4):383-4. Epub 2014 Nov 20.

Department of Pediatrics, Vardhman Mahavir Medical College and Safdarjang Hospital, New Delhi, 110029, India.

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http://dx.doi.org/10.1007/s12098-014-1605-2DOI Listing
April 2015

Irritant contact dermatitis due to "Kajal".

Indian J Pediatr 2014 Jan 17;81(1):104. Epub 2013 May 17.

Department of Pediatrics, Bhabha Atomic Research Centre Hospital, Anushaktinagar, Mumbai, 400094, India,

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http://dx.doi.org/10.1007/s12098-013-1057-0DOI Listing
January 2014

Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting.

Hum Mol Genet 2010 Aug 19;19(15):2987-97. Epub 2010 May 19.

Department of Hematology, Oncology and Molecular Medicine, Istituto Superiore di Sanitá, Viale Regina Elena 299, 00161 Roma, Italy.

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http://dx.doi.org/10.1093/hmg/ddq204DOI Listing
August 2010

Williams syndrome and Ebstein's anomaly: A rare association.

Ann Pediatr Cardiol 2009 Jul;2(2):165-6

Department of Pediatric Cardiology, Narayan Hrudayalaya Institute of Cardiac Sciences, Bangalore, India.

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http://dx.doi.org/10.4103/0974-2069.58322DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2922668PMC
July 2009

Spondylocarpotarsal synostosis: a rare case of vertebral segmentation defect.

Indian J Pediatr 2009 Apr 10;76(4):417-9. Epub 2009 Feb 10.

Department of Medical Genetics, Naryana Hrudayalaya Institute of Medical Sciences, Bangalore, India.

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http://dx.doi.org/10.1007/s12098-009-0017-1DOI Listing
April 2009

Gaucher's disease type III C: Unusual cause of intracardiac calcification.

Ann Pediatr Cardiol 2008 Jul;1(2):144-6

Department of Pediatric Cardiology, Narayana Hrudayalaya Institute of Medical Sciences, Bangalore, India.

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http://dx.doi.org/10.4103/0974-2069.43883DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2840747PMC
July 2008

Validation of a rat behavioral avoidance model from a drug delivery perspective.

Int J Pharm 2005 Oct;303(1-2):31-6

Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, IN 46285, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S037851730500443
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http://dx.doi.org/10.1016/j.ijpharm.2005.06.015DOI Listing
October 2005