Publications by authors named "Sumita Danda"

77Publications

Ghosal hematodiaphyseal dysplasia and response to corticosteroid therapy.

Am J Med Genet A 2020 Nov 13. Epub 2020 Nov 13.

Department of Clinical Genetics, Christian Medical College, Vellore, Tamil Nadu, India.

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http://dx.doi.org/10.1002/ajmg.a.61961DOI Listing
November 2020

Hepatic Glycogenoses Among Children-Clinical and Biochemical Characterization: Single-Center Study.

J Clin Exp Hepatol 2020 May-Jun;10(3):222-227. Epub 2019 Jul 25.

Paediatric Endocrinology and Metabolism Unit, Christian Medical College and Hospital, Vellore, India.

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http://dx.doi.org/10.1016/j.jceh.2019.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212290PMC
July 2019

Van der Woude Syndrome: IRF6 Mutations.

Indian J Pediatr 2019 11 29;86(11):1070-1071. Epub 2019 Aug 29.

Department of Clinical Genetics, OT Block 5th Floor, Christian Medical College, Vellore, Tamilnadu, 632004, India.

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http://dx.doi.org/10.1007/s12098-019-03058-4DOI Listing
November 2019

Study of familial aggregation of autoimmune rheumatic diseases in Asian Indian patients with systemic lupus erythematosus.

Rheumatol Int 2019 Dec 1;39(12):2053-2060. Epub 2019 Jul 1.

Department of Clinical Immunology and Rheumatology, Christian Medical College Hospital, Vellore, India.

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http://dx.doi.org/10.1007/s00296-019-04355-zDOI Listing
December 2019

A descriptive pilot study of mitochondrial mutations & clinical phenotype in fibromyalgia syndrome.

Indian J Med Res 2019 Jan;149(1):47-50

Department of Clinical Immunology & Rheumatology, Christian Medical College & Hospital, Vellore, India.

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http://dx.doi.org/10.4103/ijmr.IJMR_1977_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507534PMC
January 2019

Teaching NeuroImages: Wishbone pattern of iron accumulation: A characteristic imaging sign in GM1 gangliosidosis.

Neurology 2019 04;92(18):e2176-e2177

From the Departments of Radiology (P.M., S.V.S.), Neurology (K.M.), Neurochemistry (M.C.), and Medical Genetics (S.D.), Christian Medical College, Vellore, Tamil Nadu, India.

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http://dx.doi.org/10.1212/WNL.0000000000007406DOI Listing
April 2019

High expression of S100 calgranulin genes in peripheral blood mononuclear cells from patients with Takayasu arteritis.

Cytokine 2019 02 26;114:61-66. Epub 2018 Dec 26.

Department of Clinical Immunology and Rheumatology, Christian Medical College, Vellore, Tamil Nadu, India. Electronic address:

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http://dx.doi.org/10.1016/j.cyto.2018.11.033DOI Listing
February 2019

Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort.

J Clin Neuromuscul Dis 2018 Sep;20(1):14-27

Department of Endocrinology, Diabetes and Metabolism, Christian Medical College, Vellore, India.

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http://Insights.ovid.com/crossref?an=00131402-201809000-0000
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http://dx.doi.org/10.1097/CND.0000000000000222DOI Listing
September 2018

Novel mutations in the LRP5 gene in patients with Osteoporosis-pseudoglioma syndrome.

Am J Med Genet A 2017 12 21;173(12):3132-3135. Epub 2017 Oct 21.

Folkhälsan Institute of Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1002/ajmg.a.38491DOI Listing
December 2017

C-reactive protein gene polymorphisms (rs1205) in Asian Indian patients with Takayasu arteritis: Associations and phenotype correlations.

Int J Rheum Dis 2018 Mar 11;21(3):732-739. Epub 2017 Oct 11.

Department of Clinical Immunology and Rheumatology, Christian Medical College, Vellore, Tamil Nadu, India.

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http://dx.doi.org/10.1111/1756-185X.13180DOI Listing
March 2018

Serum amyloid A as a marker of disease activity and treatment response in Takayasu arteritis.

Rheumatol Int 2017 Oct 11;37(10):1643-1649. Epub 2017 Aug 11.

Department of Clinical Immunology and Rheumatology, Christian Medical College, Vellore, Tamil Nadu, 632004, India.

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http://dx.doi.org/10.1007/s00296-017-3786-2DOI Listing
October 2017

Gaucher Disease Presenting in an Adult with Intracerebral Bleed.

J Assoc Physicians India 2017 Apr;65(4):89-90

Department of Clinical Hematology.

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April 2017

Interleukin-17F and interleukin-6 gene polymorphisms in Asian Indian patients with Takayasu arteritis.

Hum Immunol 2017 Jul - Aug;78(7-8):515-520. Epub 2017 Apr 22.

Arthritis & Clinical Immunology Program, Oklahoma Medical Research Foundation, 825 NE 13th St., Oklahoma City, OK 73104, United States. Electronic address:

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http://dx.doi.org/10.1016/j.humimm.2017.04.008DOI Listing
April 2018

Soluble-HLA-E: A follow up biomarker in Takayasu arteritis, independent of HLA-E genotype.

Int J Rheum Dis 2018 Feb 19;21(2):532-540. Epub 2017 Apr 19.

Department of Clinical Immunology and Rheumatology, Christian Medical College, Vellore, India.

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http://dx.doi.org/10.1111/1756-185X.13027DOI Listing
February 2018

Menkes disease and response to copper histidine: An Indian case series.

Ann Indian Acad Neurol 2017 Jan-Mar;20(1):62-68

Department of Medical Genetics, Christian Medical College, Vellore, Tamil Nadu, India.

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http://dx.doi.org/10.4103/0972-2327.199907DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5341272PMC
March 2017

De Barsy syndrome type B presenting with cardiac and genitourinary abnormalities.

Clin Dysmorphol 2016 Oct;25(4):190-1

Departments of aClinical Genetics bNeonatology, Christian Medical College, Vellore, India.

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http://dx.doi.org/10.1097/MCD.0000000000000142DOI Listing
October 2016

A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring-Opitz syndrome.

Clin Dysmorphol 2016 Jul;25(3):101-5

aDepartment of Clinical Genetics bDepartment of Paediatrics, Christian Medical College, MGR University, Tamil Nadu, India.

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http://dx.doi.org/10.1097/MCD.0000000000000126DOI Listing
July 2016

Beta Propellar Protein-Associated Neurodegeneration: A Rare Cause of Infantile Autistic Regression and Intracranial Calcification.

Neuropediatrics 2016 Apr 9;47(2):123-7. Epub 2016 Feb 9.

Department of Medical Genetics, Christian Medical College, Vellore, Tamil Nadu, India.

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http://dx.doi.org/10.1055/s-0035-1571189DOI Listing
April 2016

Restrictive Dermopathy.

Pediatr Neonatol 2016 06 28;57(3):259. Epub 2015 Oct 28.

Medical Genetics Unit, Christian Medical College, Vellore, India.

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http://dx.doi.org/10.1016/j.pedneo.2015.09.005DOI Listing
June 2016

"Eye of tiger sign" mimic in an adolescent boy with mitochondrial membrane protein associated neurodegeneration (MPAN).

Brain Dev 2016 May 18;38(5):516-9. Epub 2015 Nov 18.

Department of Medical Genetics, Christian Medical College, Vellore, India.

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http://dx.doi.org/10.1016/j.braindev.2015.10.017DOI Listing
May 2016

Renal manifestations of tuberous sclerosis among children: an Indian experience and review of the literature.

Clin Kidney J 2014 Apr 26;7(2):134-7. Epub 2014 Jan 26.

Department of Paediatrics , Christian Medical College and Hospital , Vellore , Tamil Nadu , India.

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https://academic.oup.com/ckj/article-lookup/doi/10.1093/ckj/
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http://dx.doi.org/10.1093/ckj/sft162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4377768PMC
April 2014

Prenatal diagnosis in India is not limited to sex selection.

Genet Med 2015 Jan;17(1):88

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

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http://dx.doi.org/10.1038/gim.2014.149DOI Listing
January 2015

Genetic characterization of Spinocerebellar ataxia 1 in a South Indian cohort.

BMC Med Genet 2014 Oct 25;15:114. Epub 2014 Oct 25.

National Centre for Biological Sciences, Tata Institute of Fundamental Research, Bangalore, Karnataka, India.

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http://dx.doi.org/10.1186/s12881-014-0114-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411758PMC
October 2014

Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome.

Mol Syndromol 2014 Aug 1;5(5):251-6. Epub 2014 Aug 1.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1159/000365768DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4188163PMC
August 2014

MURCS association with situs inversus totalis: Expanding the spectrum or a novel disorder.

J Pediatr Genet 2014 Sep;3(3):167-73

Clinical Genetics Unit, Christian Medical College, Vellore, India.

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http://dx.doi.org/10.3233/PGE-14096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021002PMC
September 2014

Juvenile ankylosing spondylitis in Turner syndrome.

Natl Med J India 2013 Nov-Dec;26(6):338-9

Christian Medical College and Hospital, Vellore 632004, Tamil Nadu, India - Department of Cytogenetics.

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September 2014

Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - a case report and review of the literature.

J Clin Res Pediatr Endocrinol 2014 ;6(1):40-6

Christian Medical College, Clinical Genetics Unit, Vellore, India. E-ma-il:

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http://dx.doi.org/10.4274/Jcrpe.1166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3986738PMC
November 2014

Neonatal hearing screening--experience from a tertiary care hospital in southern India.

Indian Pediatr 2014 Mar 5;51(3):179-83. Epub 2013 Oct 5.

Departments of ENT, *Neonatology and #Medical Genetics, Christian Medical College, Vellore, TN, India. Correspondence to: Dr Achamma Balraj, Department of ENT, Christian Medical College, Vellore, Tamil Nadu 632 004, India.

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http://dx.doi.org/10.1007/s13312-014-0380-5DOI Listing
March 2014

Tumour necrosis factor (TNF)-α-308 gene polymorphism in Indian patients with Takayasu's arteritis - a pilot study.

Indian J Med Res 2013 Apr;137(4):749-52

Department of Rheumatology & Clinical Immunology, Christian Medical College & Hospital, Vellore, India.

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http://icmr.nic.in/ijmr/2013/april/0411.pdf
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3724256PMC
April 2013

Cri du chat syndrome: a series of five cases.

Indian J Pathol Microbiol 2012 Oct-Dec;55(4):501-5

Cytogenetics Unit, Department of Neurology, Christian Medical College, Vellore, India.

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http://www.ijpmonline.org/text.asp?2012/55/4/501/107791
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http://dx.doi.org/10.4103/0377-4929.107791DOI Listing
November 2013

A descriptive analysis of 14 cases of progressive-psuedorheumatoid-arthropathy of childhood from south India: review of literature in comparison with juvenile idiopathic arthritis.

Semin Arthritis Rheum 2013 Jun 25;42(6):582-9. Epub 2012 Dec 25.

Department of Clinical Genetics, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.

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http://dx.doi.org/10.1016/j.semarthrit.2012.09.001DOI Listing
June 2013

Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing.

J Invest Dermatol 2012 Oct 14;132(10):2473-2476. Epub 2012 Jun 14.

Center for Human Genetics, Bioscientia, Ingelheim, Germany; Department of Human Genetics, RWTH Aachen University, Aachen, Germany; Center for Clinical Research, University Hospital Freiburg, Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1038/jid.2012.146DOI Listing
October 2012

ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).

Indian J Med Res 2011 Oct;134:483-6

Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3237247PMC
October 2011

An Indian boy with additional features in Pallister-Killian syndrome.

Indian J Pediatr 2012 Sep 20;79(9):1238-40. Epub 2011 Oct 20.

Department of Clinical Genetics, Christian Medical College and Hospital, Vellore, 632004, India.

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http://dx.doi.org/10.1007/s12098-011-0585-8DOI Listing
September 2012

Fanconi- Bickel Syndrome: mutation in an Indian patient.

Indian J Pediatr 2012 Jun 5;79(6):810-2. Epub 2011 Oct 5.

Department of Clinical Genetics, Christian Medical College and Hospital, 5th Floor OT Block, Vellore, 632004, India.

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http://link.springer.com/content/pdf/10.1007/s12098-011-0568
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http://link.springer.com/10.1007/s12098-011-0568-9
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http://dx.doi.org/10.1007/s12098-011-0568-9DOI Listing
June 2012

A case report of fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome associated with Klinefelter syndrome and review of the literature.

Foot Ankle Spec 2012 Feb 30;5(1):37-40. Epub 2011 Sep 30.

Christian Medical College, Vellore, Tamilnadu, India.

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http://dx.doi.org/10.1177/1938640011422594DOI Listing
February 2012

Familial 18p deletion syndrome and 18p partial trisomy inherited from a mother with balanced translocation.

Clin Dysmorphol 2011 Jul;20(3):148-51

Developmental Paediatrics, Christian Medical College, Ida Scudder Road, Vellore, Tamil Nadu, India.

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http://dx.doi.org/10.1097/MCD.0b013e328343b9b9DOI Listing
July 2011

Metatarsal osteosarcoma in Rothmund-Thomson syndrome: a case report.

J Bone Joint Surg Am 2010 Mar;92(3):726-30

Department of Paediatric Orthopaedics, Christian Medical College, P.O. Box 3, Vellore, Tamilnadu, South India 632004.

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http://dx.doi.org/10.2106/JBJS.I.00478DOI Listing
March 2010

Gallstones in a patient with homocystinuria.

Indian J Gastroenterol 2009 Jul-Aug;28(4):157-8

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http://dx.doi.org/10.1007/s12664-009-0055-7DOI Listing
July 2010

Crisponi syndrome in an Indian patient: a rare differential diagnosis for neonatal tetanus.

Am J Med Genet A 2008 Nov;146A(21):2831-4

Department of Neonatology, Christian Medical College, Vellore, India.

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http://dx.doi.org/10.1002/ajmg.a.32487DOI Listing
November 2008

Three siblings with Woodhouse-Sakati syndrome in an Indian family.

Clin Dysmorphol 2008 Jan;17(1):57-60

Department of Endocrinology, Christian Medical College, Vellore, India.

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http://dx.doi.org/10.1097/MCD.0b013e3282beb59eDOI Listing
January 2008

Mutations of the AAAS gene in an Indian family with Allgrove's syndrome.

World J Gastroenterol 2006 Aug;12(29):4764-6

Department of Gastrointestinal Sciences, Christian Medical College, Ida Scudder Road, Vellore 632004, India.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4087849PMC
http://dx.doi.org/10.3748/wjg.v12.i29.4764DOI Listing
August 2006