Publications by authors named "Aggeliki Dimopoulos"

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Rare copy number variants identified in prune belly syndrome.
Nansi S Boghossian, Robert J Sicko, Andreas Giannakou, Aggeliki Dimopoulos, Michele Caggana

Eur J Med Genet· March 2018

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Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease.
Fabio R Faucz, Amit Tirosh, Christina Tatsi, Annabel Berthon, Laura C Hernández-Ramírez, Aggeliki Dimopoulos

J Clin Endocrinol Metab· August 2017

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Loss-of-function mutations in the gene are a novel cause of Cushing's disease.
Laura C Hernández-Ramírez, Ryhem Gam, Nuria Valdés, Maya B Lodish, Nathan Pankratz, Aggeliki Dimopoulos

Endocr Relat Cancer· August 2017

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Corticotropinoma as a Component of Carney Complex.
Laura C Hernández-Ramírez, Christina Tatsi, Maya B Lodish, Fabio R Faucz, Nathan Pankratz, Aggeliki Dimopoulos

J Endocr Soc· July 2017

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Copy number variants in a population-based investigation of Klippel-Trenaunay syndrome.
Aggeliki Dimopoulos, Robert J Sicko, Denise M Kay, Shannon L Rigler, Ruzong Fan

Am J Med Genet A· February 2017

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Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome.
Aggeliki Dimopoulos, Robert J Sicko, Denise M Kay, Shannon L Rigler, Charlotte M Druschel

Birth Defects Res· January 2017

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Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways.
Erin M Hagen, Robert J Sicko, Denise M Kay, Shannon L Rigler, Aggeliki Dimopoulos

Hum Genet· December 2016

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What is standing in the way of complete prevention of folate preventable neural tube defects?
James L Mills, Aggeliki Dimopoulos, Regan L Bailey

Birth Defects Res A Clin Mol Teratol· July 2016

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Authors' reply to Smith and colleagues.
James L Mills, Aggeliki Dimopoulos

BMJ· February 2016

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Folic acid fortification for Europe?
James L Mills, Aggeliki Dimopoulos

BMJ· November 2015

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Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.
Giampaolo Trivellin, Adrian F Daly, Fabio R Faucz, Bo Yuan, Liliya Rostomyan, Aggeliki Dimopoulos

N Engl J Med· December 2014

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