Irini Manoli

Irini Manoli

UNVERIFIED PROFILE

Are you Irini Manoli?   Register this Author

Register author
Irini Manoli

Irini Manoli

Publications by authors named "Irini Manoli"

Are you Irini Manoli?   Register this Author

44Publications

976Reads

49Profile Views

Chronic kidney disease in propionic acidemia.

Genet Med 2019 12 28;21(12):2830-2835. Epub 2019 Jun 28.

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-019-0593-zDOI Listing
December 2019

Epstein-Barr virus NK and T cell lymphoproliferative disease: report of a 2018 international meeting.

Leuk Lymphoma 2019 Dec 13:1-12. Epub 2019 Dec 13.

Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/10428194.2019.1699080DOI Listing
December 2019

Comparison of Three-Dimensional Surface Imaging Systems Using Landmark Analysis.

J Craniofac Surg 2019 Sep;30(6):1869-1872

National Institute of Dental and Craniofacial Research, National Institutes of Health.

View Article

Download full-text PDF

Source
http://Insights.ovid.com/crossref?an=00001665-201909000-0006
Publisher Site
http://dx.doi.org/10.1097/SCS.0000000000005795DOI Listing
September 2019

Noninvasive monitoring of chronic kidney disease using pH and perfusion imaging.

Sci Adv 2019 08 14;5(8):eaaw8357. Epub 2019 Aug 14.

Division of MR Research, The Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1126/sciadv.aaw8357DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6693904PMC
August 2019

Recurrent scarring papulovesicular lesions on sun-exposed skin in a 22-year-old man.

J Am Acad Dermatol 2018 03 28;78(3):637-642. Epub 2017 Sep 28.

Laboratory of Cancer Biology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaad.2017.08.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5815928PMC
March 2018

Effects of medical food leucine content in the management of methylmalonic and propionic acidemias.

Curr Opin Clin Nutr Metab Care 2018 Jan;21(1):42-48

Organic Acid Research Section, Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCO.0000000000000428DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5815322PMC
January 2018

Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia.

Hum Gene Ther 2016 May 22;27(5):345-53. Epub 2016 Mar 22.

1 Organic Acid Research Section, Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/hum.2015.092DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4841085PMC
May 2016

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.

Genet Med 2016 Apr 13;18(4):386-95. Epub 2015 Aug 13.

Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/gim2015102
Publisher Site
http://dx.doi.org/10.1038/gim.2015.102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752925PMC
April 2016

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency.

Genet Med 2016 Apr 13;18(4):396-404. Epub 2015 Aug 13.

Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/gim2015107
Publisher Site
http://dx.doi.org/10.1038/gim.2015.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752912PMC
April 2016

Response to Cunningham et al.

Genet Med 2016 Apr 10;18(4):414-5. Epub 2016 Mar 10.

Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2016.12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5586539PMC
April 2016

Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.

Ophthalmology 2016 Mar 26;123(3):571-82. Epub 2016 Jan 26.

National Human Genome Research Institute, Genetics and Molecular Biology Branch, National Institutes of Health, Bethesda, Maryland.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065014PMC
http://dx.doi.org/10.1016/j.ophtha.2015.10.041DOI Listing
March 2016

Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review.

J Inherit Metab Dis 2015 Sep 8;38(5):839-46. Epub 2015 Jan 8.

Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10545-014-9802-8
Publisher Site
http://dx.doi.org/10.1007/s10545-014-9802-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4496322PMC
September 2015

Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA).

Am J Med Genet A 2015 Sep 10;167A(9):2075-84. Epub 2015 May 10.

Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37127DOI Listing
September 2015

Propofol administration in patients with methylmalonic acidemia and intracellular cobalamin metabolism disorders: a review of theoretical concerns and clinical experiences in 28 patients.

J Inherit Metab Dis 2015 Sep 19;38(5):847-53. Epub 2015 May 19.

Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive, Building 49, Room 4A18, Bethesda, MD, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-015-9816-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5577977PMC
September 2015

Medical genetics and genomic medicine in Greece: achievements and challenges.

Mol Genet Genomic Med 2015 Sep 15;3(5):383-90. Epub 2015 Sep 15.

Medical Genetics, Choremio Research Laboratory, "Aghia Sophia" Children's Hospital, University of Athens - School of Medicine Athens, Greece.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4585445PMC
September 2015

Liver or combined liver-kidney transplantation for patients with isolated methylmalonic acidemia: who and when?

J Pediatr 2015 Jun 14;166(6):1346-50. Epub 2015 Apr 14.

Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00223476150028
Publisher Site
http://dx.doi.org/10.1016/j.jpeds.2015.03.026DOI Listing
June 2015

Renal growth in isolated methylmalonic acidemia.

Genet Med 2013 Dec 2;15(12):990-6. Epub 2013 May 2.

Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2013.42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4149057PMC
December 2013

Chronic myopathy due to immunoglobulin light chain amyloidosis.

Mol Genet Metab 2013 Apr 4;108(4):249-54. Epub 2013 Feb 4.

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2013.01.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3608108PMC
April 2013

Neurocognitive phenotype of isolated methylmalonic acidemia.

Pediatrics 2012 Jun 21;129(6):e1541-51. Epub 2012 May 21.

National Institute of Mental Health, National Institutes of Health, Building 49 Room 4A18 Bethesda, MD 20892-4472, USA.

View Article

Download full-text PDF

Source
http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
Publisher Site
http://dx.doi.org/10.1542/peds.2011-1715DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3362903PMC
June 2012

The Gne M712T mouse as a model for human glomerulopathy.

Am J Pathol 2012 Apr 7;180(4):1431-40. Epub 2012 Feb 7.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1851, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajpath.2011.12.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3349896PMC
April 2012

Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations.

Am J Clin Nutr 2011 Jan 3;93(1):47-56. Epub 2010 Nov 3.

Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda MD, USA.

View Article

Download full-text PDF

Source
https://academic.oup.com/ajcn/article/93/1/47/4597678
Publisher Site
http://dx.doi.org/10.3945/ajcn.110.004341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3001598PMC
January 2011

Hermansky-Pudlak syndrome in two African-American brothers.

Am J Med Genet A 2009 May;149A(5):987-92

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1851, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2788939PMC
May 2009

Glucocorticoid receptor (GR) beta has intrinsic, GRalpha-independent transcriptional activity.

Biochem Biophys Res Commun 2009 Apr 25;381(4):671-5. Epub 2009 Feb 25.

Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD 20892-1109, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbrc.2009.02.110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2796800PMC
April 2009

Brx mediates the response of lymphocytes to osmotic stress through the activation of NFAT5.

Sci Signal 2009 Feb 10;2(57):ra5. Epub 2009 Feb 10.

Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

View Article

Download full-text PDF

Source
http://stke.sciencemag.org/cgi/doi/10.1126/scisignal.2000081
Publisher Site
http://dx.doi.org/10.1126/scisignal.2000081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2856329PMC
February 2009

Mitochondria as key components of the stress response.

Trends Endocrinol Metab 2007 Jul 17;18(5):190-8. Epub 2007 May 17.

Human Biochemical Genetics Section, MGB, NHGRI, NIH, Bethesda, MD 20892, USA.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10432760070006
Publisher Site
http://dx.doi.org/10.1016/j.tem.2007.04.004DOI Listing
July 2007

Third-generation human mitochondria-focused cDNA microarray and its bioinformatic tools for analysis of gene expression.

Biotechniques 2007 Mar;42(3):365-75

The George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2144/000112388DOI Listing
March 2007

Monoamine oxidase-A is a major target gene for glucocorticoids in human skeletal muscle cells.

FASEB J 2005 Aug 9;19(10):1359-61. Epub 2005 Jun 9.

Endocrine Section, Laboratory of Clinical Investigation, NCCAM, NIH, Bethesda, Maryland 20892, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1096/fj.04-3660fjeDOI Listing
August 2005

Modulatory effects of L-carnitine on glucocorticoid receptor activity.

Ann N Y Acad Sci 2004 Nov;1033:147-57

Endocrine Section, Laboratory of Clinical Investigation, National Center for Complementary and Alternative Medicine, National Institutes of Health, Bethesda, MD 20892, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1196/annals.1320.014
Publisher Site
http://dx.doi.org/10.1196/annals.1320.014DOI Listing
November 2004

L-Carnitine and acetyl-L-carnitine in the treatment of complications associated with HIV infection and antiretroviral therapy.

Mitochondrion 2004 Jul;4(2-3):163-8

Pediatric and Reproductive Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mito.2004.05.012DOI Listing
July 2004