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Endocrine Abstracts

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ea0044p167 | Neuroendocrinology and pituitary | SFEBES2016

Polymorphism or mutation? – The role of the R304Q missense AIP mutation in the predisposition to pituitary adenoma

Mothojakan Nadira B , Ferrau Francesco , Dang Mary N , Barlier Anne , Chanson Philippe , Occhi Gianluca , Daly Adrian F , Schofl Christof , Dal Jakob , Gadelha Monica R , Ludman Mark , Kapur Sonal , Iacovazzo Donato , Korbonits Marta

Introduction: Heterozygous mutations in the AIP gene are associated with young-onset pituitary adenomas while homozygous loss of AIP in animal models is lethal. As early diagnosis could lead to better outcomes, family members of AIP mutation-positive patients need follow up. The R304Q variant is commonly described as pathogenic based on clinical assessment. However, it is also present in the general population (minor-allele-frequency (MAF) 0.0007&#15...
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ea0038p306 | Pituitary | SFEBES2015

Unique clinical picture in patients with X-linked acrogigantism

Iacovazzo Donato , Jose Sian , Bunce Benjamin , Caswell Richard , Hernandez-Ramirez Laura Cristina , Caimari Francisca , Ferrau Francesco , Kapur Sonal , Gabrovska Plamena , Dang Mary N , Rodd Celia , Vance Mary Lee , Ramirez Claudia , Mercado Moises , Goldstone Anthony P , Buchfelder Michael , Burren Christine , Dutta Pinaki , Choong Catherine , Cheetham Timothy , Roncaroli Federico , Ellard Sian , Sampson Julian , Korbonits M

Introduction: Non-syndromic pituitary gigantism can result from AIP mutations and the recently identified Xq26.3 microduplications causing X-LAG.Patients and methods: DNA samples and clinical data were collected from 151 patients with pituitary gigantism. All samples were tested for AIP mutations; AIP mutation negative cases (AIPneg) were screened for Xq26.3 microduplications.Results: Xq26.3 micr...
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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