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List of works by Madhulika Kabra

Acrodermatitis Dysmetabolica--Report of Two Cases

scientific article published on 15 February 2015

Active surveillance for intussusception in a phase III efficacy trial of an oral monovalent rotavirus vaccine in India

scientific article published in August 2014

Acute management of sick infants with suspected inborn errors of metabolism

scientific article published on 18 June 2011

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

scientific article published on 15 March 2015

Alpha 1 antitrypsin deficiency in children with chronic liver disease in North India

scientific article published on 4 December 2009

Antenatal diagnosis of Lowe syndrome

scientific article published on 17 February 2010

Application of Chromosomal Microarray and Multiplex Ligation-dependent Probe Amplification in prenatal diagnosis.

scientific article published on 21 January 2014

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

scientific article published on 9 June 2016

Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India.

scientific article published on 29 December 2016

Approach to inborn errors of metabolism presenting in the neonate

scientific article published on 01 March 2008

Approach to the diagnosis of developmental delay - the changing scenario

scientific article published on January 2014

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

scientific article published in January 2014

Association of SPINK1 gene mutation and CFTR gene polymorphisms in patients with pancreas divisum presenting with idiopathic pancreatitis

scientific article published on 01 October 2009

Association of polymorphism in the thermolabile 5, 10-methylene tetrahydrofolate reductase gene and hyperhomocysteinemia with coronary artery disease.

scientific article published on 12 December 2007

Behavioral comorbidity in children and adolescents with epilepsy

scientific article published on 08 February 2014

Biotinidase deficiency--a treatable entity

scientific article published on 01 June 2000

Blepharophimosis, telecanthus, microstomia, and unusual ear anomaly (Simosa syndrome) in an infant

scientific article published on 01 July 1994

Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype

scientific article published in July 2012

Caffey's Disease: Two Cases Presenting with Unexplained Fever

scientific article published on 01 July 2016

Carbimazole embryopathy-bilateral choanal atresia and patent vitello-intestinal duct: a case report and review of literature

scientific article published on September 2008

Cardiovascular Autonomic Dysfunction in Children and Adolescents With Rett Syndrome.

scientific article published on 17 January 2017

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

scientific article published on 6 September 2015

Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy

scientific article published on 24 November 2015

Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients

scientific article published on January 2015

Comparison of heart rate variability among children with well controlled versus refractory epilepsy: a cross-sectional study.

scientific article published on 28 March 2012

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

scientific article

Congenital adrenal hyperplasia presenting as hematuria and acute renal faliure.

scientific article

Congenital myotonic dystrophy

scientific article published on 01 May 2001

Coping strategies of parents of Down syndrome children in India

scientific article published on 28 June 2013

De novo deletion in MECP2 in a monozygotic twin pair: a case report

scientific article

Detection of complex chromosomal rearrangements in a woman with repeated spontaneous abortions

scientific article published on 01 May 2001

Detection of fetomaternal hemorrhage following chorionic villus sampling by Kleihauer Betke test and rise in maternal serum alpha feto protein

scientific article

Diagnosis and management of Down syndrome.

scientific article published on 15 October 2013

Diagnosis of cystic fibrosis: Indian perspective.

scientific article

Disseminated cryptococcosis

scientific article published on March 2014

Distinct de novo deletions in a brother-sister pair with RTT: a case report.

scientific article published on 2 August 2011

Dystrophinopathy diagnosis made easy: skin biopsy, an emerging novel tool.

scientific article published on 4 April 2013

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

scientific article

Efficacy of 4:1 (classic) versus 2.5:1 ketogenic ratio diets in refractory epilepsy in young children: a randomized open labeled study.

scientific article published on 28 May 2011

Efficacy of modified constraint induced movement therapy in improving upper limb function in children with hemiplegic cerebral palsy: a randomized controlled trial.

scientific article published on 11 December 2012

Encephalocraniocutaneous lipomatosis with neurocutaneous melanosis

scientific article published on 25 April 2013

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

scientific article (publication date: 3 September 2015)

Erratum to: Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients.

scientific article published on 27 May 2015

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

scientific article published on September 2014

Factor IX gene polymorphisms in Indian population.

scientific article

Familial progressive hypermelanosis in Indian monozygotic twins

scientific article published on 25 January 2011

Fluorescence in situ hybridization (FISH) using non-commercial probes in the diagnosis of clinically suspected microdeletion syndromes.

scientific article published on January 2013

Frequencies of CYP2C9 polymorphisms in North Indian population and their association with drug levels in children on phenytoin monotherapy.

scientific article

Fryns Syndrome: A Lethal Birth Defect with Variable Phenotypic Expressions in Siblings ⬇️

scientific article published on April 19, 2013

GALNS mutations in Indian patients with mucopolysaccharidosis IVA

scientific article published on 22 September 2014

Galactosemia , A Not to be Missed Inborn Error of Metabolism

scientific article published on 01 January 2016

Genetic Studies in Autism

scientific article

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

scientific article published on 01 November 2016

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

scientific article published on 24 August 2013

Ghosal Type Hematodiaphyseal Dysplasia

scientific article published on 01 April 2016

Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients.

scientific article published on 12 March 2015

Griscelli syndrome.

scientific article

Group B Meningococcal Meningitis in India

scientific article published on 01 January 1994

Hydroxyurea in thalassemia intermedia--a promising therapy.

scientific article

Hyperekplexia masquerading as epilepsy

scientific article published on 09 January 2011

Hypothalamic hamartoma, gelastic epilepsy, precocious puberty--a diffuse cerebral dysgenesis.

scientific article published in December 2002

I-cell disease (Mucolipidosis II)

scientific article published on 01 September 2000

Identification of GJB6 gene mutation in an Indian man with Clouston syndrome

scientific article published on 19 September 2016

Imaging in neonatal maple syrup urine disease.

scientific article published on 4 August 2012

Increase in iodine deficiency disorder due to inadequate sustainability of supply of iodized salt in District Solan, Himachal Pradesh.

scientific article

Infantile-onset leukoencephalopathy with discrepant mild clinical course

scientific article published on 01 October 2000

Inflicted neuro-trauma in infancy.

scientific article published on 20 January 2010

Inherited 5p deletion syndrome due to paternal balanced translocation: Phenotypic heterogeneity due to duplication of 8q and 12p.

scientific article published on September 2013

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

scientific article published on 5 June 2013

Intranasal versus intravenous lorazepam for control of acute seizures in children: a randomized open-label study

scientific article published on 28 January 2011

Intravenous pamidronate therapy in osteogenesis imperfecta: response to treatment and factors influencing outcome

scientific article published on 01 March 2007

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

scientific article published on 5 April 2014

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

scientific article published in October 2014

Lead encephalopathy in an infant mimicking a neurometabolic disorder

scientific article published on 25 July 2009

Leukodystrophy presenting as acute-onset polyradiculoneuropathy

scientific article published on 16 January 2014

Limb/pelvis-hypoplasia/aplasia syndrome--further delineation of phenotype

scientific article published on 06 September 2011

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

scientific article published on 16 April 2015

Macrocephaly with diffuse white matter changes simulating a leukodystrophy in Menkes disease.

scientific article published on 15 June 2012

Management of Wiskott-Aldrich syndrome

scientific article published on 01 September 1996

Management of childhood asthma.

scientific article

Megalencephalic leukodystrophy with simple hemihyperplasia: a rare association

scientific article published on 01 January 2009

Menkes disease - An important cause of early onset refractory seizures

scientific article

Mental retardation

scientific article published on 01 February 2003

Mitochondrial myopathy presenting as ataxia with dilated cardiomyopathy.

scientific article published in April 2001

Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India.

scientific article published on 18 January 2015

Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation.

scientific article

Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy

scientific article published on 26 August 2011

Molecular analysis of mucopolysaccharidoses: identification and characterization of pathogenic mutations in Indian population.

scientific article published on 21 January 2014

Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population.

scientific article

Molecular genetic studies in Indian patients with megalencephalic leukoencephalopathy

scientific article published on 01 June 2011

Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases

scientific article published on 10 August 2008

Multiplex PCR for rapid detection of exonal deletions in patients of duchenne muscular dystrophy

scientific article

Mutation analysis of Indian patients with urea cycle defects

scientific article published on 01 July 2012

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

scientific article published on 25 March 2014

Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.

scientific article

Mutations in CSPP1 lead to classical Joubert syndrome

scientific article

Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness

scientific article

Nasopharyngeal teratoma, congenital diaphragmatic hernia and Dandy-Walker malformation - a yet uncharacterized syndrome

scientific article published on 10 August 2016

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

scientific article published on July 2013

Nephrogenic diabetes insipidus presenting with developmental delay and intracranial calcification.

scientific article

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

scientific article

Newborn screening in India: current perspectives

scientific article published on 01 March 2010

Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.

scientific article

Noninvasive screening for preclinical atherosclerosis in children on phenytoin or carbamazepine monotherapy: a cross sectional study.

scientific article published on 2 September 2013

Norrie disease: first mutation report and prenatal diagnosis in an Indian family

scientific article published on 7 June 2012

Novel and recurrent mutations in WISP3 and an atypical phenotype.

scientific article published on 18 May 2015

Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation.

scientific article published on 5 February 2011

Poland anomaly with unusual associated anomalies: case report of an apparent disorganized defect

article

Poly (propyleneimine) dendrimer based nanocontainers for targeting of efavirenz to human monocytes/macrophages in vitro.

scientific article published on January 2007

Prenatal diagnosis and treatment of steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).

scientific article

Prenatal diagnosis for a novel homozygous mutation inPKLR gene in an Indian family

article

Prenatal diagnosis in India is not limited to sex selection.

scientific article

Prenatal diagnosis of fetal peters' plus syndrome: a case report

scientific article published on 29 July 2013

Prenatal diagnosis of megalencephalic leukodystrophy

scientific article published on 01 April 2008

Prenatal diagnosis.

scientific article

Prenatal screening: perspective for the pediatrician

scientific article published on December 2014

Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India

scientific article

Prevalence of MTHFR C677T polymorphism in north Indian mothers having babies with Trisomy 21 Down syndrome.

scientific article published in October 2008

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

scientific article published in January 2015

Prevalence of celiac disease in Indian children with Down syndrome and its clinical and laboratory predictors

scientific article published on 13 July 2012

Prevalence of the triple X syndrome in phenotypically normal women with premature ovarian failure and its association with autoimmune thyroid disorders

scientific article

Production of dysplastic platelets by peripheral blood megakaryoblasts in transient myeloproliferative disorder in Down syndrome

scientific article published on 01 March 2008

Profile of prothrombotic factors in Indian children with ischemic stroke

scientific article published on 27 January 2014

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

scientific article published on 31 August 2016

Pycnodysostosis: mutation spectrum in five unrelated Indian children

scientific article published on 01 July 2016

Raine syndrome: a clinical, radiographic and genetic investigation of a case from the Indian subcontinent.

scientific article published in July 2010

Recurrent and novel GLB1 mutations in India

scientific article

Recurrent pulmonary thromboembolism in a patient with heterozygous beta-thalassemia with Hb E state: a rare complication

scientific article published on 01 September 2003

Schwartz Jampel syndrome in children

scientific article published on 07 December 2012

Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario

scientific article published on 01 July 2003

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

scientific article published in December 2014

Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes

scientific article published on 26 May 2016

Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1.

scientific article published on 17 April 2013

Skin biopsy: a new tool to diagnose sarcoglycanopathy.

scientific article published on 16 May 2013

Smith-Magenis Syndrome: Face Speaks

scientific article published on 17 December 2015

Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease

scientific article published on 24 June 2016

Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia

scientific article published on 06 September 2003

Spondylometaphyseal Dysplasia Corner Fracture (Sutcliffe) Type

scientific article published on 30 April 2016

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

scientific article

TMC1 may be a common gene for nonsyndromic hereditary hearing loss in Indian population.

scientific article published on 21 January 2014

Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India

scientific article published on 21 October 2013

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

scientific article published on July 2016

Three novel variants in X-linked adrenoleukodystrophy.

scientific article published on 30 April 2009

Threshold levels of 25-hydroxyvitamin D and parathyroid hormone for impaired bone health in children with congenital ichthyosis and type IV and V skin

scientific article published on 30 December 2014

Thrombocytopenic purpura as a presenting manifestation of tubercular lymphadenitis

scientific article

Undergoing prenatal screening for Down's syndrome: presentation of choice and information in Europe and Asia

article

Use of HbA estimation by CE-HPLC for prenatal diagnosis of beta-thalassemia; experience from a tertiary care centre in north India: a brief report.

scientific article published in April 2009

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

scientific article

Vitamin A responsive night blindness in Dent's disease

scientific article

Vitamin A supplementation in post-measles complications

scientific article published on 01 October 1994

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

scientific article published on 21 September 2016

Wiedemann–Rautenstrauch Syndrome: First Indian Case ⬇️

scientific article published on June 1, 2011

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

scientific article published on 10 September 2015

Zinc Supplementation for One Year Among Children with Cystic Fibrosis Does Not Decrease Pulmonary Infection.

scientific article published on 6 October 2015

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