Publications by authors named "Seema Kapoor"

100Publications

Diagnostic utility of serology and polymerase chain reaction for detection of and in paediatric community-acquired lower respiratory tract infections.

Indian J Med Microbiol 2020 Apr-Jun;38(2):152-156

Department of Pediatrics, Maulana Azad Medical College, New Delhi, India.

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http://dx.doi.org/10.4103/ijmm.IJMM_20_145DOI Listing
September 2020

Predominant Motor Delay as a Major Presenting Clinical Sign in Cutis Laxa- Report of a Case with Review of Literature.

Neurol India 2020 Jul-Aug;68(4):919-921

Department of Pediatrics, Maulana Azad Medical College, Lok Nayak Hospital, New Delhi, India.

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http://dx.doi.org/10.4103/0028-3886.293457DOI Listing
August 2020

Portal Hypertension in a Case of Klippel Trenaunay Syndrome.

Indian Pediatr 2020 Aug;57(8):754-755

Department of Pediatrics, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444182PMC
August 2020

Identification of Essential, Equivocal and Complex Autism by the Autism Dysmorphology Measure: An Observational Study.

J Autism Dev Disord 2020 Aug 7. Epub 2020 Aug 7.

Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.

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http://dx.doi.org/10.1007/s10803-020-04641-xDOI Listing
August 2020

Management of Infants with Congenital Adrenal Hyperplasia.

Indian Pediatr 2020 02;57(2):159-164

Department of Pediatrics, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India. Correspondence to: Prof Sangeeta Yadav, Department of Pediatrics, Maulana Azad Medical College and Lok Nayak Hospital. New Delhi 110 002, India.

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February 2020

Imaging diagnosis of Crouzon syndrome in two cases confirmed on genetic studies - with a brief review.

Indian J Radiol Imaging 2019 Oct-Dec;29(4):442-447. Epub 2019 Dec 31.

Department of Paediatric Medicine, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.

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http://dx.doi.org/10.4103/ijri.IJRI_353_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6958874PMC
December 2019

Newborn Screening and Diagnosis of Infants with Congenital Adrenal Hyperplasia.

Indian Pediatr 2020 01;57(1):49-55

Department of Pediatrics, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India. Correspondence to: Dr Seema Kapoor, Director Professor, Department of Pediatrics, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India.

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January 2020

Apert Syndrome with Preaxial Polydactyly with FGFR2 Gene Mutation.

Indian J Pediatr 2020 06 26;87(6):469-470. Epub 2019 Dec 26.

Department of Radiology, SMS Medical College and Associated Hospital, Jaipur, Rajasthan, India.

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http://dx.doi.org/10.1007/s12098-019-03140-xDOI Listing
June 2020

Detection of respiratory syncytial virus & in paediatric lower respiratory tract infections.

Indian J Med Res 2019 09;150(3):306-309

Department of Pediatrics, Maulana Azad Medical College, New Delhi, India.

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http://dx.doi.org/10.4103/ijmr.IJMR_983_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6886145PMC
September 2019

Factors Associated with Transient Neonatal Hyperthyrotropinemia.

Indian J Pediatr 2020 06 8;87(6):482-483. Epub 2019 Nov 8.

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

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http://dx.doi.org/10.1007/s12098-019-03095-zDOI Listing
June 2020

Testing Modalities for Inborn Errors of Metabolism - What a Clinician Needs to Know?

Indian Pediatr 2019 09;56(9):757-766

Division of Genetics, Department of Pediatrics, Maulana Azad Medical College and associated Lok Nayak Hospital, New Delhi, India.

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September 2019

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

J Hum Genet 2019 Dec 17;64(12):1173-1186. Epub 2019 Sep 17.

Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0667-4DOI Listing
December 2019

Association Between Neonatal Thyroid Stimulating Hormone Status and Maternal Urinary Iodine Status.

Indian Pediatr 2019 06;56(6):472-475

Department of Genetics, University of Delhi - South Campus, New Delhi, India.

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June 2019

Utility of Detecting sof Gene as Evidence of Streptococcus pyogenes Infection in Acute Rheumatic Fever.

Indian Pediatr 2019 04;56(4):311-313

Department of Pediatrics, Maulana Azad Medical College, New Delhi, India.

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April 2019

Clinicoradiologic follow up of cherubism with aggressive characteristics: a series of 3 cases.

Oral Surg Oral Med Oral Pathol Oral Radiol 2019 Nov 7;128(5):e191-e201. Epub 2019 Feb 7.

Additional Professor, Department of Research, Institute of Liver and Biliary Sciences, New Delhi, India.

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http://dx.doi.org/10.1016/j.oooo.2019.01.082DOI Listing
November 2019

Mutational spectrum and identification of five novel mutations in G6PC1 gene from a cohort of Glycogen Storage Disease Type 1a.

Gene 2019 Jun 16;700:7-16. Epub 2019 Mar 16.

Department of Genetic Engineering, School of Biotechnology, Madurai Kamaraj University, Madurai, India. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03781119193028
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http://dx.doi.org/10.1016/j.gene.2019.03.029DOI Listing
June 2019

Reliability of coeliac serology in monitoring dietary adherence in children with coeliac disease on a gluten-free diet.

Trop Doct 2019 Jul 14;49(3):192-196. Epub 2019 Mar 14.

6 Nutritionist, NNRRTC, Kalawati Saran Children Hospital, New Delhi, India.

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http://dx.doi.org/10.1177/0049475519835732DOI Listing
July 2019

Gingival manifestations of tuberculosis in pediatric patients: series of 4 cases.

Oral Surg Oral Med Oral Pathol Oral Radiol 2019 Nov 12;128(5):508-514. Epub 2019 Jan 12.

Director & Professor, Department of Pathology, Maulana Azad Medical College, New Delhi, India.

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http://dx.doi.org/10.1016/j.oooo.2019.01.005DOI Listing
November 2019

Congenital CSF Otorhinorrhea in an Infant with Incomplete Partition-1 and its Management.

Indian J Pediatr 2019 06 8;86(6):558-559. Epub 2019 Feb 8.

Department of Pediatrics, Maulana Azad Medical College, New Delhi, India.

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http://dx.doi.org/10.1007/s12098-019-02885-9DOI Listing
June 2019

Assessment of Interleukin-18 gene polymorphism and serum levels in oral lichen planus in an Indian population.

J Oral Pathol Med 2019 Mar 7;48(3):244-250. Epub 2019 Feb 7.

Pediatrics Research and Genetics Laboratory, Department of Pediatrics, Maulana Azad Medical College, New Delhi, India.

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http://dx.doi.org/10.1111/jop.12830DOI Listing
March 2019

Genetic alteration of Exon 5 of the PTEN gene in Indian patients with ameloblastoma.

Oral Surg Oral Med Oral Pathol Oral Radiol 2019 Mar 3;127(3):225-230. Epub 2018 Dec 3.

Director Professor, Pediatrics Research and Genetics Laboratory, Department of Pediatrics, Maulana Azad Medical College, New Delhi, India. Electronic address:

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http://dx.doi.org/10.1016/j.oooo.2018.11.011DOI Listing
March 2019

Autism Spectrum Disorders and Celiac Disease: Is there an Association?

Indian Pediatr 2018 10;55(10):912-914

Child Development Center, Department of Pediatrics, Maulana Azad Medical College and associated Lok Nayak Hospital, New Delhi, India.

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October 2018

Vitamin B Deficiency in Children With Infantile Spasms: A Case-Control Study.

J Child Neurol 2018 10 22;33(12):767-771. Epub 2018 Jul 22.

2 Division of Pediatric Neurology, Department of Pediatrics, Lady Hardinge Medical College, New Delhi, India.

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http://journals.sagepub.com/doi/10.1177/0883073818787062
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http://dx.doi.org/10.1177/0883073818787062DOI Listing
October 2018

Status of Newborn Screening and Inborn Errors of Metabolism in India.

Indian J Pediatr 2018 Dec 7;85(12):1110-1117. Epub 2018 May 7.

Department of Genetics, University of Delhi, South Campus, New Delhi, India.

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http://dx.doi.org/10.1007/s12098-018-2681-5DOI Listing
December 2018

Split hand-foot malformation and a novel WNT10B mutation.

Eur J Med Genet 2018 Jul 7;61(7):372-375. Epub 2018 Feb 7.

School of Chemistry, Institute of Science, and Center for Biomolecular Structure, Function and Application, Suranaree University of Technology, Nakhon Ratchasima, Thailand; Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173078
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http://dx.doi.org/10.1016/j.ejmg.2018.02.001DOI Listing
July 2018

Spectrum of Disproportionate Short Stature at a Tertiary-care Center in Northern India.

Indian Pediatr 2017 Nov;54(11):971-972

Departments of *Pediatrics and #Radiology, MAMC, New Delhi; and Department of $Pediatrics, IMS, BHU, Varanasi, UP; India.

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http://dx.doi.org/10.1007/s13312-017-1195-yDOI Listing
November 2017

Frontotemporal Atrophy: Presenting Sign in Infantile Cobalamin Deficiency.

Indian J Pediatr 2018 07 23;85(7):565-566. Epub 2017 Nov 23.

Department of Pediatrics, Lok Nayak Hospital and Maulana Azad Medical College, New Delhi, 110002, India.

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http://dx.doi.org/10.1007/s12098-017-2542-7DOI Listing
July 2018

Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation.

Eur J Med Genet 2017 Dec 14;60(12):695-700. Epub 2017 Sep 14.

School of Chemistry, Institute of Science, Center for Biomolecular Structure, Function and Application, Suranaree University of Technology, Nakhon Ratchasima, Thailand; Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand.

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http://dx.doi.org/10.1016/j.ejmg.2017.09.005DOI Listing
December 2017

Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia.

Indian J Clin Biochem 2017 Jul 4;32(3):266-274. Epub 2016 Aug 4.

Department of Neonatology, Maulana Azad Medical College, New Delhi, 110002 India.

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http://dx.doi.org/10.1007/s12291-016-0600-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538998PMC
July 2017

Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations.

Case Rep Pediatr 2016 28;2016:3198597. Epub 2016 Nov 28.

Department of Paediatric Imaging, Tokyo Metropolitan Children's Medical Center, Fuchu, Tokyo, Japan.

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http://dx.doi.org/10.1155/2016/3198597DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5149639PMC
November 2016

Cytogenetic Analysis for Suspected Chromosomal Abnormalities; A Five Years Experience.

J Clin Diagn Res 2016 Sep 1;10(9):GC01-GC05. Epub 2016 Sep 1.

Professor, Pediatrics Research & Genetic Lab, Department of Pediatrics, MAMC & Associated Lok Nayak Hospital , New Delhi, India .

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http://dx.doi.org/10.7860/JCDR/2016/19926.8494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5071964PMC
September 2016

I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis.

Indian J Pediatr 2017 Feb 27;84(2):144-146. Epub 2016 Oct 27.

Genetic Clinic, Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, 221005, Uttar Pradesh, India.

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http://dx.doi.org/10.1007/s12098-016-2243-7DOI Listing
February 2017

Endocrinopathies in adolescents with thalassaemia major receiving oral iron chelation therapy.

Paediatr Int Child Health 2016 Feb 13;36(1):22-7. Epub 2014 Oct 13.

Division of Pediatric Endocrinology and.

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http://dx.doi.org/10.1179/2046905514Y.0000000160DOI Listing
February 2016

Liquid-Liquid Extraction and Solid Phase Extraction for Urinary Organic Acids: A Comparative Study from a Resource Constraint Setting.

Indian J Clin Biochem 2016 Oct 11;31(4):414-22. Epub 2016 Feb 11.

Pediatrics Genetic and Research Laboratory, Department of Pediatrics, New Medical Block, Opposite Old Casualty, Lok Nayak Hospital, Maulana Azad Medical College, New Delhi, 110002 India.

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http://dx.doi.org/10.1007/s12291-016-0557-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4992495PMC
October 2016

Transmission of Barber-Say syndrome from a mosaic father to his child in an Indian family.

Clin Dysmorphol 2016 Oct;25(4):181-5

aGenetic and Metabolic Clinic, Department of Pediatrics Departments of bPediatrics cAnatomy, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh dDivision of Genetics, Department of Pediatrics, MAMC Associated Lok Nayak Hospital, New Delhi, India eInstitute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0000000000000127DOI Listing
October 2016

Does angiotensin-converting enzyme-1 (ACE-1) gene polymorphism lead to chronic kidney disease among hypertensive patients?

Ren Fail 2016 Jun 6;38(5):765-9. Epub 2016 Apr 6.

b Max Super Specialty Hospital , Vaishali , Ghaziabad , Uttar Pradesh , India ;

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http://dx.doi.org/10.3109/0886022X.2016.1160247DOI Listing
June 2016

Genetic Analysis of Jervel and Lange Nielsen Syndrome with a Novel Mutation in KCNQ1 Gene.

Indian J Pediatr 2016 Sep 4;83(9):1038-9. Epub 2016 Mar 4.

Genetic and Metabolic Clinic, Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, 221005, India.

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http://dx.doi.org/10.1007/s12098-016-2072-8DOI Listing
September 2016

Pendred Syndrome in a Newborn with Neck Swelling: A Case Report.

J Trop Pediatr 2016 08 2;62(4):338-40. Epub 2016 Mar 2.

Department of Pediatrics, Genetic Unit, MAMC, New Delhi, 302004 India.

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http://dx.doi.org/10.1093/tropej/fmw002DOI Listing
August 2016

Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India.

J Clin Diagn Res 2015 Dec 1;9(12):SC08-10. Epub 2015 Dec 1.

Professor, Division of Genetics, Department of Pediatrics, Maulana Azad Medical College, Lok Nayak Hospital , New Delhi, India .

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http://dx.doi.org/10.7860/JCDR/2015/12958.6941DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717689PMC
December 2015

Polymorphism of 3' UTR of MAMLD1 gene is also associated with increased risk of isolated hypospadias in Indian children: a preliminary report.

Pediatr Surg Int 2016 May 27;32(5):515-24. Epub 2016 Jan 27.

Department of Pediatric Surgery, Maulana Azad Medical College and Associated LokNayak Hospital, G-8/6, Second Floor, Malviya Nagar, New Delhi, 110017, India.

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http://dx.doi.org/10.1007/s00383-016-3856-7DOI Listing
May 2016

The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity.

Indian J Dermatol 2015 Sep-Oct;60(5):521

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

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http://www.e-ijd.org/text.asp?2015/60/5/521/164434
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http://dx.doi.org/10.4103/0019-5154.164434DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4601448PMC
November 2015

A clinical report of Chediak-Higashi syndrome in infancy with a novel genotype from the Indian subcontinent.

Int J Dermatol 2016 Mar 24;55(3):317-21. Epub 2015 Oct 24.

Division of Genetics, Department of Pediatrics, MAMC Associated Lok Nayak Hospital, New Delhi, India.

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http://dx.doi.org/10.1111/ijd.13019DOI Listing
March 2016

Cleidocranial Dysplasia with Normal Clavicles: A Report of a Novel Genotype and a Review of Seven Previous Cases.

Mol Syndromol 2015 Jul 28;6(2):83-6. Epub 2015 Feb 28.

Division of Genetics and Metabolism, Department of Pediatrics, MAMC Associated Lok Nayak Hospital, New Delhi, India.

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http://dx.doi.org/10.1159/000375354DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521062PMC
July 2015

Valproate therapy exacerbating intermediate phenotype of methylmalonic aciduria.

J Pediatr Neurosci 2015 Apr-Jun;10(2):140-2

Department of Pediatrics, Genetic Unit, MAMC, New Delhi, India.

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http://dx.doi.org/10.4103/1817-1745.159203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489058PMC
July 2015

Identification of a novel MKS locus defined by TMEM107 mutation.

Hum Mol Genet 2015 Sep 29;24(18):5211-8. Epub 2015 Jun 29.

Department of Genetics and Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia, Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia

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http://dx.doi.org/10.1093/hmg/ddv242DOI Listing
September 2015

Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome.

Case Rep Pediatr 2015 17;2015:385910. Epub 2015 May 17.

Neurogenetics Laboratory, Department of Neurosciences and Paediatrics, USA ; Rady Children's Hospital, USA ; Howard Hughes Medical Institute, CA, USA.

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http://www.hindawi.com/journals/cripe/2015/385910/
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http://dx.doi.org/10.1155/2015/385910DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449927PMC
June 2015

Newborn screening for G6PD deficiency: A 2-year data from North India.

Indian J Public Health 2015 Apr-Jun;59(2):145-8

Professor, Department of Paediatrics, Division of Genetics and Metabolism, Maulana Azad Medical College, New Delhi, India.

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http://www.ijph.in/text.asp?2015/59/2/145/157537
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http://dx.doi.org/10.4103/0019-557X.157537DOI Listing
May 2015

Evaluation of the impact of celiac disease and its dietary manipulation on children and their caregivers.

Indian J Gastroenterol 2015 Mar 9;34(2):112-6. Epub 2015 May 9.

Division of Genetics, Department of Pediatrics, Maulana Azad Medical College, Associated Lok Nayak Hospital, Bahadur Shah Zafar Marg, New Delhi, 110 002, India.

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http://dx.doi.org/10.1007/s12664-015-0563-6DOI Listing
March 2015

Urinary organic acids quantitated in a healthy north Indian pediatric population.

Indian J Clin Biochem 2015 Apr 1;30(2):221-9. Epub 2014 Feb 1.

Department of Pediatrics, MAMC Associated Lok Nayak Hospital, New Delhi, India ; M-439, Ground Floor, Guruharkishan Nagar, Paschim Vihar, New Delhi, India.

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http://dx.doi.org/10.1007/s12291-014-0419-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4393397PMC
April 2015

Plasma level of hypoxanthine/xanthine as markers of oxidative stress with different stages of obstructive sleep apnea syndrome.

Ann Saudi Med 2014 Jul-Aug;34(4):308-13

Prof. Harmanjit S. Hira, Department of Internal and Pulmonary Medicine, Maulana Azad Medical College, BS Zafar Marg New Delhi 110002 India,

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http://dx.doi.org/10.5144/0256-4947.2014.308DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6152570PMC
November 2015

Adverse pregnancy outcome in patients with low pregnancy-associated plasma protein-A: The Indian Experience.

J Obstet Gynaecol Res 2015 Jul 15;41(7):1003-8. Epub 2015 Mar 15.

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

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http://doi.wiley.com/10.1111/jog.12662
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http://dx.doi.org/10.1111/jog.12662DOI Listing
July 2015

Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation.

Contemp Clin Dent 2015 Jan-Mar;6(1):110-2

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

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http://dx.doi.org/10.4103/0976-237X.149304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4319327PMC
February 2015

Infantile onset alexander disease with normal head circumference: a genetically proven case report.

J Clin Diagn Res 2014 Nov 20;8(11):PD03-4. Epub 2014 Nov 20.

Professor, Department of Pediatrics, Division of Genetics and Metabolism, Department Of Pediatrics, Maulana Azad Medical College , New Delhi, India .

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http://jcdr.net/article_fulltext.asp?issn=0973-709x&year
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http://dx.doi.org/10.7860/JCDR/2014/10211.5200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4290301PMC
November 2014

Prenatal screening: perspective for the pediatrician.

Indian Pediatr 2014 Dec;51(12):959-62

Departments of Pediatrics amd #Gynecology and Obstetrics, MAMC and associated Lok Nayak Hospital; and *Division of Genetics, Department of Pediatrics, AIIMS; New Delhi, India. Correspondence to: Dr Seema Kapoor, Division of Genetics, Department of Pediatrics, MAMC and associated Lok Nayak Hospital, New Delhi 110 002, India.

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http://dx.doi.org/10.1007/s13312-014-0540-7DOI Listing
December 2014

A novel CANT1 mutation in three Indian patients with Desbuquois dysplasia Kim type.

Eur J Med Genet 2015 Feb 5;58(2):105-10. Epub 2014 Dec 5.

Division of Genetics, MAMC Associated Lok Nayak Hospital, New Delhi, India. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.11.006DOI Listing
February 2015

Delayed presentation of rickets in a child with labyrinthine aplasia, microtia and microdontia (LAMM) syndrome.

Indian Pediatr 2014 Nov;51(11):919-20

Department of Pediatrics, Division of Genetics, MAMC and Associated Lok Nayak Hospital, New Delhi, India; and *John P Hussman Institute for Human Genetics, University of Miami, Miller Scool of Medicine, Miami, FL, USA. Correspondence to: Dr Seema Kapoor, M-439, Ground Floor, Guruharkishan Nagar, Paschim Vihar, New Delhi, India.

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http://www.indianpediatrics.net/nov2014/919.pdf
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http://dx.doi.org/10.1007/s13312-014-0529-2DOI Listing
November 2014

Association of maternal folate with methylene tetrahydrofolate reductase polymorphism relationship in infants <3 months with Down syndrome.

Indian J Hum Genet 2014 Apr;20(2):209-10

Department of Pediatrics, Division of Genetics, Lok Nayak Hospital and Maulana Azad Medical College, New Delhi, India.

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http://www.ijhg.com/text.asp?2014/20/2/209/142915
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http://dx.doi.org/10.4103/0971-6866.142915DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228579PMC
April 2014

To ascertain the utility of urinary methyl malonic Acid as a potential marker of ischemic heart failure.

J Clin Diagn Res 2014 Sep 20;8(9):CC04-7. Epub 2014 Sep 20.

Professor, Department of Pediatrics, Maulana Azad Medical College , New Delhi, India .

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http://dx.doi.org/10.7860/JCDR/2014/8077.4892DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225879PMC
September 2014

Down syndrome with transient myeloproliferative disorder and Beta-thalassemia major.

Indian J Hematol Blood Transfus 2014 Sep 22;30(Suppl 1):205-7. Epub 2014 Jan 22.

MAMC and Associated Lok Nayak Hospital, M-439, Ground Floor, Guruharkishan Nagar, Paschim Vihar, New Delhi, India.

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http://dx.doi.org/10.1007/s12288-014-0330-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4192176PMC
September 2014

Novel mutation and white matter involvement in an Indian child with pycnodysostosis.

Indian J Pediatr 2015 May 12;82(5):471-3. Epub 2014 Oct 12.

Department of Pediatrics, LHMC and associated Kalawati Saran Children Hospital, New Delhi, India.

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http://dx.doi.org/10.1007/s12098-014-1582-5DOI Listing
May 2015

Establishing National Neonatal Perinatal Database and birth defects registry network - need of the hour!

Indian Pediatr 2014 Sep;51(9):693-6

Division of Genetics, Department of Pediatrics, AIIMS, New Delhi and *Division of Genetics, Maulana Azad Medical College, New Dehi, India. Correspondence to: Dr Neerja Gupta, Assistant Professor, Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India.

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September 2014

An Indian boy with griscelli syndrome type 2: case report and review of literature.

Indian J Dermatol 2014 Jul;59(4):394-7

Department of Women's and Children's Health, Childhood Cancer Research Unit, Karolinska Institutet, Karolinska University Hospital, Solna, Stockholm, Sweden.

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http://dx.doi.org/10.4103/0019-5154.135494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4103279PMC
July 2014

Hypoglossia-hypodactyly syndrome with short stature - a case report.

J Clin Diagn Res 2014 Apr 15;8(4):SD01-2. Epub 2014 Apr 15.

Professor, Department of Pediatrics, Maulana Azad Medical College Associated Lok Nayak Hospital , New Delhi, India .

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http://dx.doi.org/10.7860/JCDR/2014/7809.4281DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4064859PMC
April 2014

Newborn screening- the roadmap for India.

Authors:
Seema Kapoor

Mol Cytogenet 2014 21;7(Suppl 1 Proceedings of the International Conference on Human):I41. Epub 2014 Jan 21.

Department of Pediatrics, Maulana Azad Medical College, New Delhi, India.

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http://dx.doi.org/10.1186/1755-8166-7-S1-I41DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043451PMC
June 2014

Detection of oral squamous cell carcinoma metastasis with cathepsin D: An immunohistochemical approach.

Dent Res J (Isfahan) 2014 Mar;11(2):204-11

Department of Pharmacology, LLRM Medical College, Meerut, Uttar Pradesh, India.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4052646PMC
March 2014

Craniofrontonasal Syndrome: Atrial Septal Defect With a Novel EFNB1 Gene Mutation.

Cleft Palate Craniofac J 2015 Mar 11;52(2):234-6. Epub 2014 Jun 11.

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March 2015

Clinical and histopathological correlation of duodenal biopsy with IgA anti-tissue transglutaminase titers in children with celiac disease.

Indian J Gastroenterol 2014 Jul 24;33(4):350-4. Epub 2014 May 24.

Department of Pediatrics, Lok Nayak Hospital and Maulana Azad Medical College, Bahadur Shah Zafar Marg, New Delhi, 110 002, India.

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July 2014

Co-morbidities leading to mortality or hospitalization in children with Down syndrome and its effect on the quality of life of their parents.

Indian J Pediatr 2014 Dec 14;81(12):1302-6. Epub 2014 May 14.

Department of Pediatrics, Maulana Azad Medical College, New Delhi, 110002, India,

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December 2014

Phenotypic variability in two families of Muenke syndrome with FGFR3 mutation.

Indian J Pediatr 2014 Nov 6;81(11):1230-2. Epub 2014 Apr 6.

Department of Pediatrics, MAMC Associated Lok Nayak Hospital, New Delhi, India.

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http://dx.doi.org/10.1007/s12098-014-1424-5DOI Listing
November 2014

Stroke as a rare manifestation of classical citrullinemia.

Indian J Pediatr 2014 Nov 15;81(11):1249-50. Epub 2014 Mar 15.

Department of Pediatrics, MAMC Associated Lok Nayak Hospital, New Delhi, India.

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http://dx.doi.org/10.1007/s12098-014-1373-zDOI Listing
November 2014

Infantile onset spinocerebellar ataxia 2 (SCA2): a clinical report with review of previous cases.

J Child Neurol 2014 Jan 2;29(1):139-44. Epub 2013 Dec 2.

1Pediatric Research and Genetic Lab, MAMC Associated Lok Nayak Hospital, New Delhi, India.

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http://dx.doi.org/10.1177/0883073813509015DOI Listing
January 2014

Heparin cofactor II thrombin complex as a biomarker for mucopolysaccharidosis: Indian experience.

Indian Pediatr 2014 Feb 5;51(2):128-30. Epub 2013 Sep 5.

Departments of Pediatrics and *Biochemistry, MAMC and Associated Lok Nayak hospital, New Delhi, India. Correspondence to: Dr Seema Kapoor, M 439, Ground Floor, Guruharkishan Nagar, Paschim Vihar, New Delhi, India.

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http://dx.doi.org/10.1007/s13312-014-0344-9DOI Listing
February 2014

Urolithiasis in a child with Spondylocarpotarsal Synostosis Syndrome: A Co-Incidence.

J Clin Diagn Res 2013 Sep 10;7(9):2031-2. Epub 2013 Sep 10.

Senior Research Associate, Department of Paediatrics, MAMC Associated Lok Nayak Hospital , New Delhi, India .

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http://dx.doi.org/10.7860/JCDR/2013/5605.3398DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3809675PMC
September 2013

Ochrobactrum anthropi septicemia and pneumonia in a preterm, small for gestational age infant with multiple congenital anomalies.

Indian J Pathol Microbiol 2013 Jul-Sep;56(3):317-8

Department of Microbiology, Maulana Azad Medical College, New Delhi-110002, India.

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http://dx.doi.org/10.4103/0377-4929.120411DOI Listing
April 2014

Evaluation of structural anomalies of kidney and urinary tract in children with Down syndrome.

Indian J Pediatr 2014 Jul 21;81(7):734. Epub 2013 Sep 21.

MBBS student, MAMC Associated Lok Nayak Hospital, New Delhi, 110002, India.

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July 2014

Johanson-Blizzard syndrome: hepatic and hematological features with novel genotype.

Indian J Gastroenterol 2014 Jan 20;33(1):82-4. Epub 2013 Sep 20.

Division of Genetics, Department of Pediatrics, Maulana Azad Medical College, New Delhi, 110 002, India.

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January 2014

Genetic study of an Indian family with cherubism.

Indian J Pediatr 2014 Mar 5;81(3):299-301. Epub 2013 Sep 5.

Division of Genetics, Department of Pediatrics, MAMC Associated Lok Nayak Hospital, New Delhi, India.

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http://dx.doi.org/10.1007/s12098-013-1195-4DOI Listing
March 2014

A report of an Indian boy with a delayed diagnosis of pseudochondroplasia.

J Clin Diagn Res 2013 Jul 1;7(7):1479-81. Epub 2013 Jul 1.

Senior Research Associate, MAMC Associated Lok Nayak Hospital , New Delhi, India .

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http://dx.doi.org/10.7860/JCDR/2013/5410.3167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3749671PMC
July 2013

Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype.

Indian J Gastroenterol 2013 Nov 17;32(6):409-12. Epub 2013 Aug 17.

Division of Genetics, Department of Pediatrics, Maulana Azad Medical College and Associated Lok Nayak Hospital, Bahadur Shah Zafar Marg, New Delhi, 110 002, India.

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http://dx.doi.org/10.1007/s12664-013-0358-6DOI Listing
November 2013

National newborn screening program still a hype or a hope now?

Indian Pediatr 2013 Jul;50(7):639-43

Department of Genetics and Metabolism, MAMC, Associated Lok Nayak Hospital, New Delhi, India.

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http://dx.doi.org/10.1007/s13312-013-0187-9DOI Listing
July 2013

Intellectual disability in Indian children: experience with a stratified approach for etiological diagnosis.

Indian Pediatr 2013 Dec 5;50(12):1125-30. Epub 2013 Jun 5.

Departments of Pediatrics and *Radio diagnosis, Maulana Azad Medical College, and #Department of Pediatrics, All India Institute of Medical Sciences; New Delhi, India. Correspondence to: Dr Seema Kapoor, Professor, Department of Pediatrics, Maulana Azad Medical College, New Delhi 110 002, India.

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http://dx.doi.org/10.1007/s13312-013-0306-7DOI Listing
December 2013

Short syndrome-an expanding phenotype.

Indian Pediatr 2013 Apr;50(4):414-6

Division of Genetics, Departments of Pediatrics, Lok Nayak hospital, New Delhi, India.

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http://dx.doi.org/10.1007/s13312-013-0099-8DOI Listing
April 2013

Report of a novel Indian case of congenital erythropoietic porphyria and overview of therapeutic options.

J Pediatr Hematol Oncol 2013 May;35(4):e167-70

Department of Pediatrics, Lady Hardinge Medical College, Kalawati Saran Children's Hospital, New Delhi, India.

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http://dx.doi.org/10.1097/MPH.0b013e3182707218DOI Listing
May 2013

Posterior reversible encephalopathy syndrome in a child with meningitis presenting with transient visual loss and hypertension.

Indian J Pediatr 2013 Nov 22;80(11):965-7. Epub 2012 Dec 22.

Department of Pediatrics, Maulana Azad Medical College (MAMC), Bahadur Shah Zafar Marg, New Delhi, 110002, India.

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http://dx.doi.org/10.1007/s12098-012-0937-zDOI Listing
November 2013

Congenital accessory palpebral aperture--an addition to the spectrum of Delleman syndrome.

Ophthalmic Genet 2013 Mar-Jun;34(1-2):109-11. Epub 2012 Dec 6.

Department of Ophthalmology, Guru Nanak Eye Centre, Maulana Azad Medical College, New Delhi, India.

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http://dx.doi.org/10.3109/13816810.2012.729645DOI Listing
August 2013