Publications by authors named "Aggeliki Dimopoulos"

11Publications

Corticotropinoma as a Component of Carney Complex.

J Endocr Soc 2017 Jul 30;1(7):918-925. Epub 2017 May 30.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892.

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July 2017

Rare copy number variants identified in prune belly syndrome.

Eur J Med Genet 2018 Mar 23;61(3):145-151. Epub 2017 Nov 23.

Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States.

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March 2018

Loss-of-function mutations in the gene are a novel cause of Cushing's disease.

Endocr Relat Cancer 2017 08 22;24(8):379-392. Epub 2017 May 22.

Section on Endocrinology and GeneticsEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA

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August 2017

Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease.

J Clin Endocrinol Metab 2017 08;102(8):2836-2843

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892.

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August 2017

Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome.

Birth Defects Res 2017 01;109(1):8-15

Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.

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January 2017

Copy number variants in a population-based investigation of Klippel-Trenaunay syndrome.

Am J Med Genet A 2017 Feb 30;173(2):352-359. Epub 2016 Nov 30.

Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.

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February 2017

Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways.

Hum Genet 2016 12 15;135(12):1355-1364. Epub 2016 Sep 15.

Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, 6100 Executive Boulevard, Bethesda, MD, 20892, USA.

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December 2016

What is standing in the way of complete prevention of folate preventable neural tube defects?

Birth Defects Res A Clin Mol Teratol 2016 07;106(7):517-9

Department of Nutrition Science, Purdue University, West Lafayette, Indiana.

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July 2016

Authors' reply to Smith and colleagues.

BMJ 2016 Feb 16;352:i746. Epub 2016 Feb 16.

Epidemiology Branch, Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.

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February 2016

Folic acid fortification for Europe?

BMJ 2015 Nov 24;351:h6198. Epub 2015 Nov 24.

Epidemiology Branch, Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.

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November 2015