Anusha Uttarilli

Anusha Uttarilli

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Anusha Uttarilli

Anusha Uttarilli

Publications by authors named "Anusha Uttarilli"

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7Publications

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Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India.

Bone 2019 03 6;120:204-211. Epub 2018 Nov 6.

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S87563282183040
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http://dx.doi.org/10.1016/j.bone.2018.10.026DOI Listing
March 2019

Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI).

Gene 2017 Jan 5;599:19-27. Epub 2016 Nov 5.

Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2016.11.005DOI Listing
January 2017

Hunter syndrome with late age of presentation: clinical description of a case and review of the literature.

BMJ Case Rep 2015 May 14;2015. Epub 2015 May 14.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Udupi, Karnataka, India.

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http://dx.doi.org/10.1136/bcr-2015-209305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4434300PMC
May 2015

Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations.

Am J Med Genet A 2014 Jun 27;164A(6):1443-53. Epub 2014 Mar 27.

Center of Excellence, Chiang Mai University; Craniofacial Genetics Laboratory, Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand; DENTALAND CLINIC, Chiang Mai, Thailand.

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http://dx.doi.org/10.1002/ajmg.a.36489DOI Listing
June 2014

Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI.

J Inherit Metab Dis 2014 Mar 22;37(2):263-8. Epub 2013 Aug 22.

Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry; Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand,

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http://doi.wiley.com/10.1007/s10545-013-9645-8
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http://dx.doi.org/10.1007/s10545-013-9645-8DOI Listing
March 2014

GAPO syndrome with deafness: new feature or incidental finding?

Clin Dysmorphol 2013 Oct;22(4):161-3

aCentre for DNA Fingerprinting and Diagnostics, Diagnostic Division bDepartment of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.

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http://dx.doi.org/10.1097/MCD.0000000000000008DOI Listing
October 2013