Madhulika Kabra

Madhulika Kabra

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Publications by authors named "Madhulika Kabra"

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First report of THOC6 related intellectual disability (Beaulieu Boycott Innes syndrome) in two siblings from India.

Eur J Med Genet 2020 Mar 14;63(3):103742. Epub 2019 Aug 14.

Division of Genetics, Department of Pediatrics, All India Institute of Medical Genetics, New Delhi, India.

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http://dx.doi.org/10.1016/j.ejmg.2019.103742DOI Listing
March 2020

Epigenetic Abnormalities of 11p15.5 Region in Beckwith-Wiedemann Syndrome - A Report of Eight Indian Cases.

Indian J Pediatr 2020 Mar 29;87(3):175-178. Epub 2020 Jan 29.

Department of Pediatrics, Division of Genetics, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1007/s12098-019-03148-3DOI Listing
March 2020

'Go for it, dream big, work hard and persist': A message to the next generation of CF leaders in recognition of International Women's Day 2020.

J Cyst Fibros 2020 Mar 7. Epub 2020 Mar 7.

Respiratory and Sleep Medicine, Queensland Children's Hospital and Faculty of Medicine, University of Queensland, Brisbane, Australia.

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http://dx.doi.org/10.1016/j.jcf.2020.02.021DOI Listing
March 2020

Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III.

Am J Med Genet A 2020 Mar 28. Epub 2020 Mar 28.

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1002/ajmg.a.61547DOI Listing
March 2020

Management of Infants with Congenital Adrenal Hyperplasia.

Indian Pediatr 2020 Feb;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

Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.

J Pediatr 2020 Jan 9;216:44-50.e5. Epub 2019 Oct 9.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC.

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http://dx.doi.org/10.1016/j.jpeds.2019.08.058DOI Listing
January 2020

Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature.

J Pediatr Endocrinol Metab 2020 Jan;33(1):79-88

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1515/jpem-2019-0234DOI Listing
January 2020

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

Effects of Exercise Intervention Program on Bone Mineral Accretion in Children and Adolescents with Cystic Fibrosis: A Randomized Controlled Trial.

Indian J Pediatr 2019 11 8;86(11):987-994. Epub 2019 Jul 8.

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.

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http://dx.doi.org/10.1007/s12098-019-03019-xDOI Listing
November 2019

Report of a Novel Homozygous Nonsense Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type.

J Pediatr Genet 2019 Sep 12;8(3):153-156. Epub 2019 Mar 12.

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1055/s-0039-1683382DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6688880PMC
September 2019

Report of Two Novel Mutations in Indian Patients with Rothmund-Thomson Syndrome.

J Pediatr Genet 2019 Sep 9;8(3):163-167. Epub 2019 Apr 9.

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1055/s-0039-1684017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6688877PMC
September 2019

Rapid Eye Movement (REM) Sleep Behavior Disorder and REM Sleep without Atonia in the Young.

Can J Neurol Sci 2019 Sep 24:1-9. Epub 2019 Sep 24.

Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1017/cjn.2019.302DOI Listing
September 2019

Genetic polymorphisms associated with obesity and non-alcoholic fatty liver disease in Asian Indian adolescents.

J Pediatr Endocrinol Metab 2019 Jul;32(7):749-758

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1515/jpem-2018-0543DOI Listing
July 2019

Growth Pattern and Clinical Profile of Indian Children with Classical 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia on Treatment.

Indian J Pediatr 2019 06 30;86(6):496-502. Epub 2019 Jan 30.

Division of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.

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http://dx.doi.org/10.1007/s12098-018-02848-6DOI Listing
June 2019

Report of Another Mutation Proven Case of Carbonic Anhydrase II Deficiency.

J Pediatr Genet 2019 Jun 18;8(2):91-94. Epub 2018 Nov 18.

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1675781
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http://dx.doi.org/10.1055/s-0038-1675781DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6499615PMC
June 2019

Thenar Hypertrophy and Electrical Myotonia in Pompe Disease.

J Clin Neuromuscul Dis 2019 03;20(3):135-137

Department of Pediatrics, Chief Pediatric Neurology and Neurodevelopment, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

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http://Insights.ovid.com/crossref?an=00131402-201903000-0000
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http://dx.doi.org/10.1097/CND.0000000000000195DOI Listing
March 2019

Aquagenic Wrinkling of Skin: A Screening Test for Cystic Fibrosis.

Indian Pediatr 2019 02;56(2):109-113

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India. Correspondence: Dr SK Kabra, Professor, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India.

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February 2019

Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls.

Indian Pediatr 2018 06 9;55(6):474-477. Epub 2018 Feb 9.

Department of Medical Genetics, SGPGI, Lucknow, Uttar Pradesh, India. Correspondence to: Dr Shubha Phadke, Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, Uttar Pradesh, India.

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June 2018

Cyclin dependent kinase inhibitor 2A/B gene deletions are markers of poor prognosis in Indian children with acute lymphoblastic leukemia.

Pediatr Blood Cancer 2018 06 15;65(6):e27001. Epub 2018 Feb 15.

Division of Oncology, Department of Paediatrics, All India Institute of Medical Science, New Delhi, India.

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http://dx.doi.org/10.1002/pbc.27001DOI Listing
June 2018

Spectrum of gene variants in Indian children with non-syndromic hearing loss.

Indian J Med Res 2018 06;147(6):615-618

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India.

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http://dx.doi.org/10.4103/ijmr.IJMR_76_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6118150PMC
June 2018

A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report.

BMC Pediatr 2018 04 4;18(1):126. Epub 2018 Apr 4.

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1186/s12887-018-1108-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5883641PMC
April 2018

Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity.

Obes Res Clin Pract 2017 Mar - Apr;11(2):241-246. Epub 2016 Sep 21.

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1016/j.orcp.2016.09.004DOI Listing
March 2018

Asparagine Synthetase deficiency-report of a novel mutation and review of literature.

Metab Brain Dis 2017 12 3;32(6):1889-1900. Epub 2017 Aug 3.

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.

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http://dx.doi.org/10.1007/s11011-017-0073-6DOI Listing
December 2017

Erratum to: Asparagine synthetase deficiency-report of a novel mutation and review of literature.

Metab Brain Dis 2017 12;32(6):1901

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.

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http://dx.doi.org/10.1007/s11011-017-0102-5DOI Listing
December 2017

Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population.

Indian J Ophthalmol 2017 Nov;65(11):1156-1160

Department of Paediatrics, Division of Genetics, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.4103/ijo.IJO_380_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5700584PMC
November 2017

The Unusual Story of an Infant with Congenital Adrenal Hyperplasia.

Indian Pediatr 2017 09;54(9):781-782

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India

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September 2017

Prognostic Utility of Clinical Epilepsy Severity Score Versus Pretreatment Hypsarrhythmia Scoring in Children With West Syndrome.

Clin EEG Neurosci 2017 Jul 31;48(4):280-287. Epub 2016 Aug 31.

1 Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1177/1550059416662425DOI Listing
July 2017

Congenital Cytomegalovirus Infection and Permanent Hearing Loss in Rural North Indian Children.

Pediatr Infect Dis J 2017 07;36(7):670-673

From the *Department of Microbiology, †Department of Otolaryngology, ‡Department of Center for Community Medicine, and §Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India; ¶Department of Pediatrics, ‖Department of Epidemiology, and **Department of Microbiology, University of Alabama at Birmingham, Birmingham, Alabama.

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http://dx.doi.org/10.1097/INF.0000000000001527DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5468472PMC
July 2017

Bone Mineral Density of Indian Children and Adolescents with Cystic Fibrosis.

Indian Pediatr 2017 Jul;54(7):545-549

Departments of Pediatrics and *Endocrinology, All India Institute of Medical Sciences, New Delhi, India. Correspondence to: Prof SK Kabra, Professor, Department of Pediatrics, 3067, Teaching Block, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110 029, India.

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http://dx.doi.org/10.1007/s13312-017-1065-7DOI Listing
July 2017

Pelvic radiograph in skeletal dysplasias: An approach.

Indian J Radiol Imaging 2017 Apr-Jun;27(2):187-199

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.4103/ijri.IJRI_367_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5510317PMC
July 2017

Identification of gene mutation in an Indian man with Clouston syndrome.

Indian J Dermatol Venereol Leprol 2016 Nov-Dec;82(6):697-700

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.4103/0378-6323.190855DOI Listing
May 2017

Cardiovascular Autonomic Dysfunction in Children and Adolescents With Rett Syndrome.

Pediatr Neurol 2017 05 17;70:61-66. Epub 2017 Jan 17.

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.01.010DOI Listing
May 2017

Validation of Polymerase Chain Reaction-Based Assay to Detect Actual Number of CGG Repeats in FMR1 Gene in Indian Fragile X Syndrome Patients.

J Child Neurol 2017 03 20;32(4):371-378. Epub 2016 Dec 20.

1 Genetics Division, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1177/0883073816683075DOI Listing
March 2017

Caffey's Disease: Two Cases Presenting with Unexplained Fever.

Indian J Pediatr 2016 Nov 1;83(12-13):1499-1500. Epub 2016 Jul 1.

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1007/s12098-016-2185-0DOI Listing
November 2016

Genetically Determined Chronic Pancreatitis but not Alcoholic Pancreatitis Is a Strong Risk Factor for Pancreatic Cancer.

Pancreas 2016 11;45(10):1478-1484

From the Departments of *Gastroenterology, † Biostatistics, ‡Pediatric, §Gastrointestinal Surgery, and ∥Gastroenterology and Human Nutrition, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1097/MPA.0000000000000684DOI Listing
November 2016

Genetic Studies in Autism.

Indian J Pediatr 2016 Oct 3;83(10):1133-40. Epub 2016 Mar 3.

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.

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http://dx.doi.org/10.1007/s12098-015-1989-7DOI Listing
October 2016

Spondylometaphyseal Dysplasia Corner Fracture (Sutcliffe) Type.

Indian J Pediatr 2016 Oct 30;83(10):1191-4. Epub 2016 Apr 30.

Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, 110029, India.

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http://dx.doi.org/10.1007/s12098-016-2121-3DOI Listing
October 2016

Editorial: New Horizons in Genetic Diagnosis in Pediatric Practice: The Excitement and Challenges!

Indian J Pediatr 2016 10 11;83(10):1131-2. Epub 2016 Aug 11.

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.

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http://dx.doi.org/10.1007/s12098-016-2204-1DOI Listing
October 2016

Application of chromosomal microarrays in the evaluation of intellectual disability/global developmental delay patients - A study from a tertiary care genetic centre in India.

Gene 2016 Sep 9;590(1):109-19. Epub 2016 Jun 9.

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2016.06.020DOI Listing
September 2016

The spectrum of leukodystrophies in children: Experience at a tertiary care centre from North India.

Ann Indian Acad Neurol 2016 Jul-Sep;19(3):332-8

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.4103/0972-2327.179975DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4980955PMC
August 2016

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

Smith-Magenis Syndrome: Face Speaks.

Indian J Pediatr 2016 Jun 17;83(6):589-93. Epub 2015 Dec 17.

Department of Medical Genetics, Sanjay Gandhi Post-Graduate Institute of Medical Sciences, Raibereli Road, Lucknow, Uttar Pradesh, 226014, India.

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http://dx.doi.org/10.1007/s12098-015-1940-yDOI Listing
June 2016

Ghosal Type Hematodiaphyseal Dysplasia.

Indian Pediatr 2016 Apr;53(4):347-8

Department of Pediatrics, AIIMS, New Delhi, India; #Imagine Institut des Maladies Genetiques, France;and $Laboratoire de Genetique Moleculaire, Institut de Recherche Necker Enfants Malades, Paris, France. Correspondence to: Dr Neerja Gupta, Assistant Professor, Division of Genetics, Department of Pediatrics, AIIMS, New Delhi, India.

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http://dx.doi.org/10.1007/s13312-016-0851-yDOI Listing
April 2016

ADRB2 Polymorphism and Salbutamol Responsiveness in Northern Indian Children with Mild to Moderate Exacerbation of Asthma.

Indian Pediatr 2016 Mar;53(3):211-5

Departments of Pediatrics and #Biostatistics, All India Institute of Medical Sciences, New Delhi, India. Correspondence to: Dr Madhulika Kabra, Professor, Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1007/s13312-016-0822-3DOI 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

Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in India.

Cytogenet Genome Res 2015 10;146(3):187-94. Epub 2015 Sep 10.

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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https://www.karger.com/Article/FullText/439205
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http://dx.doi.org/10.1159/000439205DOI Listing
January 2016

Chanarin Dorfman syndrome: a case report with novel nonsense mutation.

Gene 2016 Jan 6;575(2 Pt 1):359-62. Epub 2015 Sep 6.

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1016/j.gene.2015.09.004DOI Listing
January 2016

Galactosemia , A Not to be Missed Inborn Error of Metabolism.

Indian Pediatr 2016 Jan;53(1):19-20

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1007/s13312-016-0783-6DOI Listing
January 2016

Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients.

Indian J Dermatol Venereol Leprol 2015 Jan-Feb;81(1):16-22

ICMR Genetic Research Center, National Institute for Research in Reproductive Health, JM Street, Parel, Mumbai, India.

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http://www.ijdvl.com/text.asp?2015/81/1/16/148559
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http://dx.doi.org/10.4103/0378-6323.148559DOI Listing
September 2015

Acrodermatitis Dysmetabolica--Report of Two Cases.

Indian J Pediatr 2015 Sep 15;82(9):869-70. Epub 2015 Feb 15.

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India,

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http://dx.doi.org/10.1007/s12098-015-1715-5DOI Listing
September 2015

Enhanced Reprogramming Efficiency and Kinetics of Induced Pluripotent Stem Cells Derived from Human Duchenne Muscular Dystrophy.

PLoS Curr 2015 Sep 3;7. Epub 2015 Sep 3.

Department of Cardio Thoracic Vascular Surgery, All India Institute of Medical Sciences, N. Delhi, India.

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http://dx.doi.org/10.1371/currents.md.a77c2f0516a8cb4809ffad5963342905DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4638229PMC
September 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

Live births in women with recurrent hydatidiform mole and two NLRP7 mutations.

Reprod Biomed Online 2015 Jul 16;31(1):120-4. Epub 2015 Apr 16.

Department of Human Genetics, McGill University Health Centre Research Institute, Glen Site, Montreal H4A 3J1, Canada; Department of Obstetrics and Gynecology, McGill University Health Centre Research Institute, Glen Site, Montreal H4A 3J1, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.rbmo.2015.03.011DOI Listing
July 2015

Prevalence of UGT1A6 polymorphisms in children with epilepsy on valproate monotherapy.

Neurol India 2015 Jan-Feb;63(1):35-9

Department of Pediatrics, Division of Pediatric Neurology, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.4103/0028-3886.152631DOI Listing
May 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

Sequential occurrence of preneoplastic lesions and accumulation of loss of heterozygosity in patients with gallbladder stones suggest causal association with gallbladder cancer.

Ann Surg 2014 Dec;260(6):1073-80

*Departments of Gastroenterology and Human Nutrition, All India Institute of Medical Sciences, New Delhi, India †Indian Agricultural Research Institute, New Delhi, India; Departments of ‡Pathology §Surgery ¶Pediatrics (Genetics unit), and ‖Biostatistics, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1097/SLA.0000000000000495DOI Listing
December 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

Iodine nutritional status among neonates in the Solan district, Himachal Pradesh, India.

J Community Health 2014 Oct;39(5):987-9

Department of Human Nutrition, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India,

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http://dx.doi.org/10.1007/s10900-014-9845-7DOI Listing
October 2014

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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http://dx.doi.org/10.1007/s13312-014-0483-zDOI Listing
September 2014

Profile of prothrombotic factors in Indian children with ischemic stroke.

J Clin Neurosci 2014 Aug 27;21(8):1315-8. Epub 2014 Jan 27.

Department of Cardiac Biochemistry, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.

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https://linkinghub.elsevier.com/retrieve/pii/S09675868140002
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http://dx.doi.org/10.1016/j.jocn.2013.10.030DOI Listing
August 2014

Behavioral comorbidity in children and adolescents with epilepsy.

J Clin Neurosci 2014 Aug 8;21(8):1337-40. Epub 2014 Feb 8.

Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar East, Gautam Nagar, New Delhi 110029, India.

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http://dx.doi.org/10.1016/j.jocn.2013.11.023DOI Listing
August 2014

Iodine nutrition status amongst neonates in Kangra district, Himachal Pradesh.

J Trace Elem Med Biol 2014 Jul 5;28(3):351-3. Epub 2014 Apr 5.

Department of Human Nutrition, All India Institute of Medical Sciences, New Delhi 110029, India.

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http://dx.doi.org/10.1016/j.jtemb.2014.03.009DOI Listing
July 2014

Assessment of iodine deficiency in school age children in Nainital District, Uttarakhand State.

Asia Pac J Clin Nutr 2014 ;23(2):278-81

Department of Human Nutrition, All India Institute of Medical Sciences Ansari Nagar, New Delhi-110029, India.

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http://dx.doi.org/10.6133/apjcn.2014.23.2.03DOI Listing
July 2014

Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.

Am J Med Genet A 2014 Jun 25;164A(6):1482-9. Epub 2014 Mar 25.

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

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http://dx.doi.org/10.1002/ajmg.a.36481DOI Listing
June 2014

Leukodystrophy presenting as acute-onset polyradiculoneuropathy.

Pediatr Neurol 2014 Jun 16;50(6):616-8. Epub 2014 Jan 16.

Genetics Division, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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https://linkinghub.elsevier.com/retrieve/pii/S08878994140003
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http://dx.doi.org/10.1016/j.pediatrneurol.2014.01.028DOI Listing
June 2014

Status of iodine deficiency disorder in district Udham Singh Nagar, Uttarakhand state India.

Indian J Endocrinol Metab 2014 May;18(3):419-21

Department of Human Nutrition, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.4103/2230-8210.131219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4056146PMC
May 2014

Neurodevelopmental and epilepsy outcome in children aged one to five years with infantile spasms--a North Indian cohort.

Epilepsy Res 2014 Mar 30;108(3):526-34. Epub 2013 Dec 30.

Department of Biostatistics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2013.12.009DOI Listing
March 2014

Semilobar holoprosencephaly with 21q22 deletion: an autopsy report.

BMJ Case Rep 2014 Mar 13;2014. Epub 2014 Mar 13.

Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1136/bcr-2014-203597DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3962924PMC
March 2014

Disseminated cryptococcosis.

Indian Pediatr 2014 Mar;51(3):225-6

Departments of Pediatrics and *Pathology, All India Institute of Medical Sciences, New Delhi, India. Correspondence to: Dr Madhulika Kabra, Additional Professor, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1007/s13312-014-0356-5DOI Listing
March 2014

Mutations in CSPP1 lead to classical Joubert syndrome.

Am J Hum Genet 2014 Jan 19;94(1):80-6. Epub 2013 Dec 19.

Neurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.11.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3882909PMC
January 2014

Approach to the diagnosis of developmental delay - the changing scenario.

Indian J Med Res 2014 Jan;139(1):4-6

Division of Genetics Department of Pediatrics All India Institute of Medical Sciences New Delhi 110 029, India.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3994741PMC
January 2014

Menkes disease - An important cause of early onset refractory seizures.

J Pediatr Neurosci 2014 Jan;9(1):11-6

Department of Pediatrics, Division of Pediatric Neurology, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.4103/1817-1745.131471DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4040024PMC
January 2014