Publications by authors named "Manju Ghosh"

32Publications

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

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

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

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

Domino ring-opening metathesis-ring-closing metathesis of bicyclo[2.2.2]octene derivatives: scope and limitations.

J Org Chem 2012 Jul 3;77(14):6345-50. Epub 2012 Jul 3.

Department of Organic Chemistry, Indian Association for the Cultivation of Science, Jadavpur, Kolkata 700 032, India.

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http://dx.doi.org/10.1021/jo300945bDOI Listing
July 2012

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

Indian J Pediatr 2012 Nov 7;79(11):1529-31. Epub 2012 Jun 7.

Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India.

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http://dx.doi.org/10.1007/s12098-012-0788-7DOI Listing
November 2012

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

Clin Dysmorphol 2012 Jul;21(3):113-7

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

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http://dx.doi.org/10.1097/MCD.0b013e32835439cdDOI Listing
July 2012

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

Clin Chim Acta 2011 Nov 26;412(23-24):2289-95. Epub 2011 Aug 26.

Genetics division, Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), New Delhi 110029 India.

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http://dx.doi.org/10.1016/j.cca.2011.08.026DOI Listing
November 2011

Molecular genetic studies in Indian patients with megalencephalic leukoencephalopathy.

Pediatr Neurol 2011 Jun;44(6):450-8

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.pediatrneurol.2011.01.003DOI Listing
June 2011

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

Brain Dev 2012 Jan 5;34(1):28-31. Epub 2011 Feb 5.

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

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http://dx.doi.org/10.1016/j.braindev.2011.01.006DOI Listing
January 2012

A novel MECP2 change in an indian boy with variant rett phenotype and congenital blindness: implications for genetic counseling and prenatal diagnosis.

J Child Neurol 2011 Feb;26(2):209-13

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

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http://dx.doi.org/10.1177/0883073810378535DOI Listing
February 2011

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

J Neurol Sci 2011 Feb 16;301(1-2):38-45. Epub 2010 Dec 16.

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

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http://dx.doi.org/10.1016/j.jns.2010.11.007DOI Listing
February 2011

Novel human pathological mutations. Gene symbol: MECP2. Disease: Rett Syndrome.

Hum Genet 2010 Jan;127(1):118

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

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January 2010

Novel human pathological mutations. Gene symbol: MECP2. Disease: Rett Syndrome.

Hum Genet 2010 Jan;127(1):117

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

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January 2010

Novel human pathological mutations. Gene symbol: MECP2. Disease: Rett Syndrome.

Hum Genet 2010 Jan;127(1):117-8

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

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January 2010

Novel human pathological mutations. Gene symbol: ABCD1. Disease: Adrenoleukodystrophy.

Hum Genet 2009 Aug;126(2):335-6

Pediatrics (Genetic unit), All India Institute of Medical Sciences, New Delhi, India.

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August 2009

Three novel variants in X-linked adrenoleukodystrophy.

J Child Neurol 2009 Jul 30;24(7):857-60. Epub 2009 Apr 30.

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

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http://dx.doi.org/10.1177/0883073808330764DOI Listing
July 2009

Megalencephalic leukodystrophy with simple hemihyperplasia: a rare association.

Clin Dysmorphol 2009 Jan;18(1):49-51

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

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http://dx.doi.org/10.1097/MCD.0b013e3283136919DOI Listing
January 2009

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

Hum Mutat 2007 Oct;28(10):1014-9

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville 20850, Maryland, USA.

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http://dx.doi.org/10.1002/humu.20556DOI Listing
October 2007

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

J Pediatr Orthop 2007 Mar;27(2):225-7

Department of Endocrinology and Diabetes, Royal Children Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1097/bpo.0b013e3180316d06DOI Listing
March 2007

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

Am J Hum Genet 2006 Jan 21;78(1):137-43. Epub 2005 Nov 21.

Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health (NIH), Rockville, MD 20850, USA.

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http://dx.doi.org/10.1086/499164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1380211PMC
January 2006

In vivo assessment of toxicity and pharmacokinetics of methylglyoxal. Augmentation of the curative effect of methylglyoxal on cancer-bearing mice by ascorbic acid and creatine.

Toxicol Appl Pharmacol 2006 Apr 19;212(1):45-58. Epub 2005 Aug 19.

Department of Biological Chemistry, Indian Association for the Cultivation of Science, Jadavpur, Kolkata-700 032, India.

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http://linkinghub.elsevier.com/retrieve/pii/S0041008X0500400
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http://dx.doi.org/10.1016/j.taap.2005.07.003DOI Listing
April 2006

Genetics of deafness in India.

Indian J Pediatr 2004 Jun;71(6):531-3

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

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http://dx.doi.org/10.1007/BF02724296DOI Listing
June 2004

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

Am J Med Genet A 2003 Jul;120A(2):180-4

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

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http://dx.doi.org/10.1002/ajmg.a.20014DOI Listing
July 2003

DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation.

Adv Otorhinolaryngol 2002 ;61:124-30

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Md., USA.

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http://dx.doi.org/10.1159/000066824DOI Listing
February 2003

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

Hum Genet 2002 Jun 3;110(6):527-31. Epub 2002 May 3.

Section of Human Genetics, Laboratory of Molecular Genetics, National Institute of Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.

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http://dx.doi.org/10.1007/s00439-002-0732-4DOI Listing
June 2002

Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.

Nat Genet 2002 Mar 19;30(3):277-84. Epub 2002 Feb 19.

Section on Gene Structure and Function, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, Maryland 20850, USA.

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http://www.nature.com/articles/ng842
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http://dx.doi.org/10.1038/ng842DOI Listing
March 2002