Ishwar C Verma

Ishwar C Verma

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Ishwar C Verma

Ishwar C Verma

Publications by authors named "Ishwar C Verma"

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Inborn Errors of Metabolism in India- Where We are At!

Indian J Pediatr 2019 Oct 10;86(10):875-876. Epub 2019 Sep 10.

Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.

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http://dx.doi.org/10.1007/s12098-019-03067-3DOI Listing
October 2019

Mutation-Proved Clouston Syndrome in a Large Indian Family with a Variant Phenotype.

Indian J Dermatol 2019 Mar-Apr;64(2):143-145

Department of Medical Genetics, Institute of Genomics and Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.

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http://www.e-ijd.org/text.asp?2019/64/2/143/254163
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http://dx.doi.org/10.4103/ijd.IJD_510_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6440177PMC
April 2019

Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases.

J Pediatr Endocrinol Metab 2018 Jul;31(7):799-807

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.1515/jpem-2018-0023DOI Listing
July 2018

Familial Hypercholesterolemia: Cascade Screening in Children and Relatives of the Affected.

Indian J Pediatr 2018 May 15;85(5):339-343. Epub 2018 Feb 15.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, 110060, India.

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http://dx.doi.org/10.1007/s12098-017-2589-5DOI Listing
May 2018

Prenatal Diagnosis of Lysosomal Storage Disorders Using Chorionic Villi.

Methods Mol Biol 2017 ;1594:265-291

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.1007/978-1-4939-6934-0_18DOI Listing
February 2018

Expanding the Phenotype of the Founder South Asian Mutation in the Nuclear Encoding Mitochondrial RMND1 Gene.

Indian J Pediatr 2018 02 26;85(2):87-92. Epub 2017 Oct 26.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, 110060, India.

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http://dx.doi.org/10.1007/s12098-017-2515-xDOI Listing
February 2018

Relationship Between Morphology, Euploidy and Implantation Potential of Cleavage and Blastocyst Stage Embryos.

J Hum Reprod Sci 2017 Jan-Mar;10(1):49-57

Amity Institute of Molecular Biology and Genomics, Amity University, Noida, UP, India.

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http://dx.doi.org/10.4103/0974-1208.204013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5405648PMC
May 2017

Next-Generation Sequencing Reveals a Nonsense Mutation (p.Arg364Ter) in Gene in an Indian Patient with Familial Breast Cancer.

Breast Care (Basel) 2017 May 21;12(2):114-116. Epub 2017 Mar 21.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.

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http://dx.doi.org/10.1159/000457786DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5447174PMC
May 2017

Primary Carnitine Deficiency - A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly.

Indian J Pediatr 2017 Jan 1;84(1):83-85. Epub 2016 Sep 1.

Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.1007/s12098-016-2227-7DOI Listing
January 2017

Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations.

Atherosclerosis 2016 12 14;255:31-36. Epub 2016 Oct 14.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, 110060, India.

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http://dx.doi.org/10.1016/j.atherosclerosis.2016.10.028DOI Listing
December 2016

Does Formaldehyde Increase Cell Free DNA in Maternal Plasma Specimens?

Lab Med 2016 Nov 24;47(4):286-292. Epub 2016 Aug 24.

Centre of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.1093/labmed/lmw031DOI Listing
November 2016

Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes.

Indian Pacing Electrophysiol J 2016 Jan-Feb;16(1):8-18. Epub 2016 Mar 30.

Centre of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India. Electronic address:

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http://dx.doi.org/10.1016/j.ipej.2016.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4936664PMC
August 2016

Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders.

JIMD Rep 2017 24;31:15-27. Epub 2016 Mar 24.

Biochemical Genetics, Centre of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, 110060, India.

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http://dx.doi.org/10.1007/8904_2016_548DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388645PMC
March 2016

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Hum Mutat 2015 Nov 21;36(11):1052-63. Epub 2015 Aug 21.

Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049609PMC
http://dx.doi.org/10.1002/humu.22832DOI Listing
November 2015

Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders.

Prenat Diagn 2015 Nov 3;35(11):1137-47. Epub 2015 Sep 3.

Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.1002/pd.4663DOI Listing
November 2015

Inherited metabolic disorders: Quality management for laboratory diagnosis.

Clin Chim Acta 2015 Jul 10;447:1-7. Epub 2015 May 10.

Centre of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi 110060, India.

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http://dx.doi.org/10.1016/j.cca.2015.04.040DOI Listing
July 2015

Molecular diagnosis of infantile Neuro axonal Dystrophy by Next Generation Sequencing.

Indian J Pediatr 2015 May 29;82(5):474-7. Epub 2014 Oct 29.

Division of Genetics & Metabolism, Department of Pediatrics, Maulana Azad Medical College, New Delhi, India.

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http://dx.doi.org/10.1007/s12098-014-1608-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390426PMC
May 2015

Citrin deficiency: A treatable cause of acute psychosis in adults.

Neurol India 2015 Mar-Apr;63(2):220-2

Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.4103/0028-3886.156285DOI Listing
May 2015

Newborn screening: need of the hour in India.

Indian J Pediatr 2015 Jan 9;82(1):61-70. Epub 2014 Dec 9.

Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, 110060, India,

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http://dx.doi.org/10.1007/s12098-014-1615-0DOI Listing
January 2015

CYP2C9, VKORC1, CYP4F2, ABCB1 and F5 variants: influence on quality of long-term anticoagulation.

Pharmacol Rep 2014 Apr 3;66(2):243-9. Epub 2014 Mar 3.

Center of Medical Genetics, Sir Ganga Ram Hospital,, New Delhi.

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http://dx.doi.org/10.1016/j.pharep.2013.09.006DOI Listing
April 2014

Implication of novel CYP2C9*57 (p.Asn204His) variant in coumarin hypersensitivity.

Thromb Res 2013 Jun 11;131(6):535-9. Epub 2013 Apr 11.

Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.1016/j.thromres.2013.03.019DOI Listing
June 2013

Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia.

J Hum Genet 2013 Apr 31;58(4):226-8. Epub 2013 Jan 31.

Department of Anesthesiology, Uniformed Services University, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/jhg.2012.156DOI Listing
April 2013

Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures?

Am J Med Genet A 2013 Jan 3;161A(1):76-81. Epub 2012 Dec 3.

Centre of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.1002/ajmg.a.35692DOI Listing
January 2013

Pharmacogenetic typing for oral anti-coagulant response among factor V Leiden mutation carriers.

Indian J Hum Genet 2012 Sep;18(3):326-31

Centre of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi ; Amity Institute of Biotechnology, Amity University, Uttar Pradesh, India.

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http://dx.doi.org/10.4103/0971-6866.107987DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656522PMC
September 2012

Down syndrome in India--diagnosis, screening, and prenatal diagnosis.

Clin Lab Med 2012 Jun;32(2):231-48

Center of Medical Genetics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, India.

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http://linkinghub.elsevier.com/retrieve/pii/S027227121200036
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http://dx.doi.org/10.1016/j.cll.2012.04.010DOI Listing
June 2012

Hemoglobinopathies in India--clinical and laboratory aspects.

Clin Lab Med 2012 Jun;32(2):249-62

Center of Medical Genetics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, India.

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http://dx.doi.org/10.1016/j.cll.2012.04.011DOI Listing
June 2012

Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia.

Am J Hum Genet 2011 Dec 17;89(6):745-50. Epub 2011 Nov 17.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.ajhg.2011.10.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234380PMC
December 2011

Past, present & future scenario of thalassaemic care & control in India.

Indian J Med Res 2011 Oct;134:507-21

Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.

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http://icmr.nic.in/ijmr/2011/october/1016.pdf
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http://infiniteability.yolasite.com/resources/verma.pdf
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3237251PMC
October 2011

β-Thalassemia mutations in subjects with borderline HbA₂ values: a pilot study in North India.

Clin Chem Lab Med 2011 Sep 6;49(12):2069-72. Epub 2011 Sep 6.

Department of Hematology, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.

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https://www.degruyter.com/view/j/cclm.2011.49.issue-12/cclm.
Publisher Site
http://dx.doi.org/10.1515/CCLM.2011.696DOI Listing
September 2011

Gene changes in Duchenne muscular dystrophy: comparison of multiplex PCR and multiplex ligation-dependent probe amplification techniques.

Neurol India 2010 Nov-Dec;58(6):852-6

Centre of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.4103/0028-3886.73744DOI Listing
March 2011

Tyrosinemia type I--diagnostic issues and prenatal diagnosis.

Indian J Pediatr 2006 Feb;73(2):163-5

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

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http://dx.doi.org/10.1007/bf02820214DOI Listing
February 2006

Interpreting on electrocardiogram Part II, the complexes.

Indian J Pediatr 1986 Sep;53(5):629-639

Genetics Unit, Deptt. of Pediatrics, All India Institute of Medical Sciences, 110029, New Delhi.

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http://dx.doi.org/10.1007/BF02748668DOI Listing
September 1986