Výsledky vyhledávání - "Aggeliki Dimopoulos"

Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing’s disease

Publikováno v: Endocrine-Related Cancer. 24:379-392

The CABLES1 cell cycle regulator participates in the adrenal–pituitary negative feedback, and its expression is reduced in corticotropinomas, pituitary tumors with a largely unexplained genetic basis. We investigated the presence of CABLES1 mutatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fe62a3d4d36996b3d7762ba66f0e41d0
https://doi.org/10.1530/erc-17-0131

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Corticotropinoma as a Component of Carney Complex

Autor: James L. Mills, Prashant Chittiboina, Laura C. Hernández-Ramírez, John Lane, Aggeliki Dimopoulos, Christina Tatsi, Maya Lodish, Fabio R. Faucz, Constantine A. Stratakis, Nuria Valdés, Nathan Pankratz, Denise M. Kay

Publikováno v: Journal of the Endocrine Society
Journal of the Endocrine Society, vol 1, iss 7

Known germline gene abnormalities cause one-fifth of the pituitary adenomas in children and adolescents, but, in contrast with other pituitary tumor types, the genetic causes of corticotropinomas are largely unknown. In this study, we report a case o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba447ef2cdc018cb1ae057bc09c743dc
http://europepmc.org/articles/PMC5686778

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

Autor: Constantine A. Stratakis, Maya Lodish, Martha Quezado, Christina Tatsi, Nikolaos Settas, Aggeliki Dimopoulos, Prashant Chittiboina, James L. Mills, Laura C. Hernández-Ramírez, Georgios Z. Papadakis, Anna Angelousi, Amit Tirosh, Nathan Pankratz, Fabio R. Faucz, John Lane, Annabel Berthon, Ricardo G. Correa

Publikováno v: The Journal of Clinical Endocrinology and Metabolism

Context: Somatic mutations in the ubiquitin-specific protease 8 (USP8) gene have been recently identified as the most common genetic alteration in patients with Cushing disease (CD). However, the frequency of these mutations in the pediatric populati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b6e7b626778350a97dbfa46436e87a1
http://europepmc.org/articles/PMC5546857

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

Autor: Shannon L. Rigler, Aggeliki Dimopoulos, Paul A. Romitti, James L. Mills, Lawrence C. Brody, Ruzong Fan, Marilyn L. Browne, Robert J. Sicko, Michele Caggana, Denise M. Kay, Charlotte M. Druschel

Publikováno v: Birth Defects Research. 109:8-15

Background Hypoplastic right heart syndrome (HRHS) is a rare congenital defect characterized by underdevelopment of the right heart structures commonly accompanied by an atrial septal defect. Familial HRHS reports suggest genetic factor involvement.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3a1ff0341046897a3803fec3f7c8e8e0
https://doi.org/10.1002/bdra.23586

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

Autor: Charlotte M. Druschel, Ruzong Fan, Marilyn L. Browne, James L. Mills, Aggeliki Dimopoulos, Robert J. Sicko, Denise M. Kay, Lawrence C. Brody, Shannon L. Rigler, Paul A. Romitti, Michele Caggana

Publikováno v: American Journal of Medical Genetics Part A. 173:352-359

Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular disorder that is thought to occur sporadically; however, reports of familial occurrence suggest a genetic component. We examined KTS cases to identify novel, potentially causal copy numbe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38c485c2beaa5300cfd2cb5f37621eb0
https://doi.org/10.1002/ajmg.a.37868

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

Autor: Robert J. Sicko, Lawrence C. Brody, Margaret H. Doleman, Erin M. Hagen, Shannon L. Rigler, Shabbir Ahmad, Michele Caggana, Denise M. Kay, Marilyn L. Browne, Ruzong Fan, Paul A. Romitti, James L. Mills, Gary M. Shaw, Aggeliki Dimopoulos, Laura L. Jelliffe-Pawlowski

Publikováno v: Human Genetics. 135:1355-1364

Classic heterotaxy consists of congenital heart defects with abnormally positioned thoracic and abdominal organs. We aimed to uncover novel, genomic copy-number variants (CNVs) in classic heterotaxy cases. A microarray containing 2.5 million single-n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f09432e9f8a330dc2593cc50b7ad411
https://doi.org/10.1007/s00439-016-1727-x

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Rare copy number variants identified in prune belly syndrome

Autor: Paul A. Romitti, Denise M. Kay, Ruzong Fan, Edwina Yeung, Michael Y. Tsai, Aggeliki Dimopoulos, Nansi S. Boghossian, James L. Mills, Andreas Giannakou, Aiyi Liu, Robert J. Sicko, Nathan Pankratz, Marilyn L. Browne, Michele Caggana, Benjamin R. Cole

Publikováno v: European journal of medical genetics. 61(3)

Prune belly syndrome (PBS), also known as Eagle-Barrett syndrome, is a rare congenital disorder characterized by absence or hypoplasia of the abdominal wall musculature, urinary tract anomalies, and cryptorchidism in males. The etiology of PBS is lar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1b054103b65bb11d5d9ee1a5a232b7c
https://pubmed.ncbi.nlm.nih.gov/29174092

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Authors' reply to Smith and colleagues

Autor: James L. Mills, Aggeliki Dimopoulos

Publikováno v: BMJ (Clinical research ed.). 352

Some of Smith and colleagues’ statements about our editorial require clarification.1 2 They interpret our statement that: “No important adverse effects have been identified to date, probably because a modest level of fortification has proved very

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26aaa6e0a6e32ac5c8bd2cc796829023
https://pubmed.ncbi.nlm.nih.gov/26883421

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