Jaya Ganesh

Jaya Ganesh

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Jaya Ganesh

Jaya Ganesh

Publications by authors named "Jaya Ganesh"

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Insights into the Bacterial Profiles and Resistome Structures Following the Severe 2018 Flood in Kerala, South India.

Microorganisms 2019 Oct 19;7(10). Epub 2019 Oct 19.

Interdisciplinary Biology, Rajiv Gandhi Centre for Biotechnology (RGCB), Thiruvananthapuram 695 014, Kerala, India.

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http://dx.doi.org/10.3390/microorganisms7100474DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6843399PMC
October 2019

Fetal akinesia deformation sequence due to a congenital disorder of glycosylation.

Am J Med Genet A 2015 Oct 31;167A(10):2411-7. Epub 2015 May 31.

Genetics Program, Children's Regional Hospital, Cooper University Health Care.

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http://dx.doi.org/10.1002/ajmg.a.37184DOI Listing
October 2015

Liver pathology in infantile mitochondrial DNA depletion syndrome.

Pediatr Dev Pathol 2013 Nov-Dec;16(6):415-24. Epub 2013 Sep 19.

1  Departments of Pathology and Pediatrics, Stanford University School of Medicine, Stanford, CA 94305 USA.

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http://dx.doi.org/10.2350/12-07-1229-OA.1DOI Listing
February 2014

Mitochondrial tRNA(Phe) mutation as a cause of end-stage renal disease in childhood.

Pediatr Nephrol 2013 Mar 8;28(3):515-9. Epub 2012 Nov 8.

Division of Genetics, Department of Pediatrics, University of Rochester School of Medicine and Dentistry, 601 Elmwood Ave, Box 777, Rochester, NY 14623, USA.

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http://dx.doi.org/10.1007/s00467-012-2354-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3557766PMC
March 2013

Severe combined immunodeficiency resulting from mutations in MTHFD1.

Pediatrics 2013 Feb 6;131(2):e629-34. Epub 2013 Jan 6.

Children's Hospital of Philadelphia, 3550 Market St, 3rd Floor, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1542/peds.2012-0899DOI Listing
February 2013

Unusual cardiac "masses" in a newborn with infantile pompe disease.

JIMD Rep 2012 13;5:17-20. Epub 2011 Dec 13.

Department of Pediatrics, Section of Biochemical Genetics, The Children's Hospital of Philadelphia, 34th St & Civic Center Blvd, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1007/8904_2011_85DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509919PMC
February 2013

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.

J Med Genet 2011 Sep 3;48(9):590-2. Epub 2011 Aug 3.

Department of Human Genetics, Department of Medical Genetics, McGill University Health Centre, Montreal General Hospital, 1650 Cedar Avenue, Room L3-319, Montreal, QC H3G 1A4, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2011-100286DOI Listing
September 2011

Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.

Mol Genet Metab 2011 Aug 7;103(4):349-57. Epub 2011 May 7.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB2015, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.05.001DOI Listing
August 2011

Significant liver disease in a patient with Y116H mutation in the MVK gene.

Am J Med Genet A 2011 Jun 5;155A(6):1461-4. Epub 2011 May 5.

Division of Gastroenterology, Hepatology and Nutrition, University of Pennsylvania School of Medicine, The Children's Hospital of Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/ajmg.a.33915DOI Listing
June 2011

Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency.

Mol Genet Metab 2010 Jul 14;100(3):296-9. Epub 2010 Apr 14.

Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.04.004DOI Listing
July 2010

Partial splenic embolization in a child with Gaucher disease, massive splenomegaly and severe thrombocytopenia.

Pediatr Radiol 2009 Sep 27;39(9):1006-9. Epub 2009 May 27.

Department of Radiology, The Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104-4399, USA.

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http://link.springer.com/10.1007/s00247-009-1303-9
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http://dx.doi.org/10.1007/s00247-009-1303-9DOI Listing
September 2009

Child neurology: a case illustrating the role of imaging in evaluation of sudden infant death.

Neurology 2009 Sep;73(11):e54-6

Human Motor Control Section, National Institute of Neurological Disorders and Stroke, NIH, Bldg. 10, Rm. 7D42, 10 Center Dr., MSC 1428, Bethesda, MD 20892, USA.

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http://www.neurology.org/cgi/doi/10.1212/WNL.0b013e3181b7847
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http://dx.doi.org/10.1212/WNL.0b013e3181b78473DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2744283PMC
September 2009

Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.

Arch Neurol 2008 Aug;65(8):1108-13

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center, Study of Children's Mitochondrial Disorders, C Besta Neurological Institute Foundation, Milano, Italy.

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http://dx.doi.org/10.1001/archneur.65.8.1108DOI Listing
August 2008

A false-positive newborn screening result: goat's milk acidopathy.

Pediatrics 2008 Jul;122(1):210-1; author reply 211

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http://dx.doi.org/10.1542/peds.2008-0325DOI Listing
July 2008

Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.

Neuromuscul Disord 2008 Jun 27;18(6):453-9. Epub 2008 May 27.

Departamento de Bioquímica, Hospital Universitario Puerta de Hierro, Instituto de Investigaciones Biomédicas, CSIC-UAM, CIBERER, ISCiii, Madrid, Spain.

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http://www.ant-tnsjournal.com/Mag_Files/18-4/dw2009111916284
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http://linkinghub.elsevier.com/retrieve/pii/S096089660800097
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http://dx.doi.org/10.1016/j.nmd.2008.04.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3891825PMC
June 2008

What new information pediatric autopsies can provide: a retrospective evaluation of 100 consecutive autopsies using family-centered criteria.

Arch Pediatr Adolesc Med 2007 Dec;161(12):1190-6

Department of General Pediatrics, 3535 Market, Room 1523, The Children's Hospital of Philadelphia, 34th and Civic Center Boulevard, Philadelphia, PA 19104, USA.

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http://archpedi.jamanetwork.com/article.aspx?doi=10.1001/arc
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http://dx.doi.org/10.1001/archpedi.161.12.1190DOI Listing
December 2007

Fasting c-peptide and insulin-like growth factor-binding protein-1 levels help to distinguish childhood type 1 and type 2 diabetes at diagnosis.

Pediatr Diabetes 2007 Apr;8(2):53-9

Division of Endocrinology and Diabetes, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104-4399, USA.

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http://dx.doi.org/10.1111/j.1399-5448.2007.00236.xDOI Listing
April 2007

Medical staff attitudes toward family presence during pediatric procedures.

Pediatr Emerg Care 2004 Apr;20(4):224-7

Division of Emergency Medicine, The Children's Hospital of Philadelphia, and the Department of Pediatrics, The University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1097/01.pec.0000121241.99242.3bDOI Listing
April 2004