Publications by authors named "Prajnya Ranganath"

37Publications

A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4.

Eur J Hum Genet 2020 May 21;28(5):669-673. Epub 2020 Jan 21.

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

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http://dx.doi.org/10.1038/s41431-020-0572-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7170885PMC
May 2020

Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian Children.

Indian Pediatr 2019 12;56(12):1017-1019

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

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December 2019

Mosaic paternal uniparental isodisomy of 15q11-q13 region causing Angelman phenotype.

Clin Dysmorphol 2019 Oct;28(4):202-204

Diagnostics division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.

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http://Insights.ovid.com/crossref?an=00019605-201910000-0000
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http://dx.doi.org/10.1097/MCD.0000000000000284DOI Listing
October 2019

Alström Syndrome Presenting as Isolated Dilated Cardiomyopathy.

Indian J Pediatr 2019 Mar 28;86(3):296-298. Epub 2018 Nov 28.

Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.

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http://dx.doi.org/10.1007/s12098-018-2807-9DOI Listing
March 2019

Prenatal screening for genetic disorders: Suggested guidelines for the Indian Scenario.

Indian J Med Res 2017 Dec;146(6):689-699

Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.

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http://dx.doi.org/10.4103/ijmr.IJMR_1788_15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5926339PMC
December 2017

Glycogen Storage Disease Type VI With a Novel Mutation in PYGL Gene.

Indian Pediatr 2017 Sep;54(9):775-776

Department of Pediatrics, JIPMER, Puducherry; and *Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad; India. Correspondence to: Dr Barath Jagadisan, Associate Professor, Department of Pediatrics, JIPMER, Puducherry 605 006, India.

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http://dx.doi.org/10.1007/s13312-017-1174-3DOI Listing
September 2017

Variable Expressivity and Response to Bisphosphonate Therapy in a Family with Osteoporosis Pseudoglioma Syndrome.

Indian Pediatr 2017 Aug;54(8):681-683

Department of Medical Genetics, Nizam's Institute of Medical Sciences; and *Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics; Hyderabad, Telangana, India. Correspondence to: Dr Prajnya Ranganath, Head, Department of Medical Genetics, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad, Telangana 500 082, India.

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http://dx.doi.org/10.1007/s13312-017-1134-yDOI Listing
August 2017

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

Pycnodysostosis: mutation spectrum in five unrelated Indian children.

Clin Dysmorphol 2016 Jul;25(3):113-20

aDepartment of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh bDepartment of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research and Seth Sukhlal Karnani Memorial Hospital, Kolkata cDepartment of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad dDepartment of Pediatrics, Genetics Division, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1097/MCD.0000000000000128DOI Listing
July 2016

Worsening of Callus Hyperplasia after Bisphosphonate Treatment in Type V Osteogenesis Imperfecta.

Indian Pediatr 2016 Mar;53(3):250-2

Departments of Medical Genetics and *Orthopaedics, Nizams Institute of Medical Sciences, Hyderabad, Telangana; and Department of Medical Genetics, SGPGIMS, Lucknow, Uttar Pradesh; India. Correspondence to: Dr Prajnya Ranganath, Department of Medical Genetics, Nizams Institute of Medical Sciences, Punjagutta, Hyderabad, Telangana 500 082, India.

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http://dx.doi.org/10.1007/s13312-016-0830-3DOI Listing
March 2016

Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.

Am J Med Genet A 2016 Feb 24;170A(2):410-417. Epub 2015 Nov 24.

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

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http://dx.doi.org/10.1002/ajmg.a.37447DOI Listing
February 2016

MicroRNA-155 and Its Role in Malignant Hematopoiesis.

Biomark Insights 2015 22;10:95-102. Epub 2015 Oct 22.

Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India. ; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.

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http://dx.doi.org/10.4137/BMI.S27676DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4620936PMC
November 2015

Clinical and Genetic Analysis of Fibrodysplasia Ossificans Progressiva: A Case Report and Literature Review.

J Clin Diagn Res 2015 Aug 1;9(8):RD01-3. Epub 2015 Aug 1.

Research Associate, Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics , Hyderabad, India .

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http://dx.doi.org/10.7860/JCDR/2015/15160.6393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4576603PMC
August 2015

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

Novel mutations in PRG4 gene in two Indian families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.

Indian J Med Res 2014 Aug;140(2):221-6

Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4216495PMC
August 2014

Rare association of spondylo costal dysostosis with split cord malformations type II: A case report and a brief review of literature.

J Pediatr Neurosci 2014 May;9(2):142-4

Department of Genetics, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad, Telangana, India.

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http://dx.doi.org/10.4103/1817-1745.139320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4166837PMC
May 2014

Craniosynostosis in a child with I-cell disease: The need for genetic analysis before contemplating surgery in craniosynostosis.

J Pediatr Neurosci 2014 Jan;9(1):33-5

Department of Medical Genetics, Nizam's Institute of Medical Sciences, Panjagutta, Hyderabad, Andhra Pradesh, India.

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http://dx.doi.org/10.4103/1817-1745.131480DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4040029PMC
January 2014

A novel combined 15q11.2 duplication and a bisatellited supernumerary marker derived from chromosome 22: molecular characterization of the marker.

Gene 2014 Apr 5;539(1):162-7. Epub 2014 Feb 5.

Diagnostics Division, Center for DNA Fingerprinting and Diagnostics, Tuljaguda Complex, 4-1-714, Hyderabad 500 001, Andhra-Pradesh, India.

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http://dx.doi.org/10.1016/j.gene.2014.02.002DOI Listing
April 2014

Congenital metacarpal pseudoarthrosis, cleft palate, short stature, advanced bone age, and genu valgum: a new syndrome or a variant of Devriendt syndrome?

Clin Dysmorphol 2013 Apr;22(2):73-5

Department of Medical Genetics, Nizam's Institute of Medical Sciences, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Andhra Pradesh, India.

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http://dx.doi.org/10.1097/MCD.0b013e32835f9aa2DOI Listing
April 2013

Brothers with hypospadias, vertebral segmentation defects, and intellectual disability: new syndrome?

Am J Med Genet A 2012 Dec 19;158A(12):3065-70. Epub 2012 Nov 19.

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

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http://dx.doi.org/10.1002/ajmg.a.35607DOI Listing
December 2012

Complete Pentalogy of Cantrell with craniorachischisis: a case report.

J Prenat Med 2012 Jan;6(1):10-2

Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Andhra Pradesh, India.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3414245PMC
January 2012

Spectrum of Lysosomal storage disorders at a medical genetics center in northern India.

Indian Pediatr 2012 Oct 30;49(10):799-804. Epub 2012 Mar 30.

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

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http://indianpediatrics.net/oct2012/799.pdf
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http://medind.nic.in/ibv/t12/i10/ibvt12i10p799.pdf
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http://dx.doi.org/10.1007/s13312-012-0192-4DOI Listing
October 2012

Angelman syndrome and prenatally diagnosed Prader-Willi syndrome in first cousins.

Am J Med Genet A 2011 Nov 30;155A(11):2788-90. Epub 2011 Sep 30.

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

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http://doi.wiley.com/10.1002/ajmg.a.34234
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http://dx.doi.org/10.1002/ajmg.a.34234DOI Listing
November 2011

COL1A1 mutation in an Indian child with Caffey disease.

Indian J Pediatr 2011 Jul 20;78(7):877-9. Epub 2011 Jan 20.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Rae Bareilly Road, Lucknow 226014 Uttar Pradesh, India.

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http://link.springer.com/content/pdf/10.1007%2Fs12098-010-03
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http://link.springer.com/10.1007/s12098-010-0339-z
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http://dx.doi.org/10.1007/s12098-010-0339-zDOI Listing
July 2011

Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis.

Indian J Med Res 2010 Apr;131:508-14

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

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April 2010