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ea0051oc5.7 | Oral Communications 5 | BSPED2017

The Phenotyping of Overgrowth (POD) Study: a novel ‘no win, no fee’ model for translating research findings into clinical diagnoses

Foster Alison , Antoniadi Thalia , Wallis Yvonne , Griffiths Mike , Lim Derek , Cole Trevor , Barrett Tim

Introduction: Rare genetic overgrowth disorders are a group of conditions characterised by height and/or head circumference >2 S.D. above the mean for age and sex, learning disability, congenital anomalies, and in some cases childhood tumours. POD is a national cohort study that includes a next generation sequencing (NGS) panel of overgrowth genes. We present a new model for clinical confirmation of pathogenic variants identified by this research panel. Clin...

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ea0084op-08-37 | Oral Session 8: Basic 2 | ETA2022

Resistance to thyroid hormone alpha: molecular, biochemical and physiological approach to diagnosis and therapy

Agostini Maura , Pietzner Maik , Marelli Federica , Prapa Matina , Moran Carla , Edward Visser W. , Brown Dave , Thomas Ellen , Schoenmakers Erik , Romartinez-Alonso Beatriz , Scheuplein Rabea , Tylki-Szymanska Anna , Lyons Greta , Watson Laura , Rajanayagam Odelia , Schwedhelm Edzard , F. Hartmann Michaela , Wudy Stefan , Probst Maiken , MacDonald Stephen , Thomas William , Arlt Wiebke , Volker Uwe , M. Main Katharina , Feldt-Rasmussen Ulla , T. Dattani Mehul , Koren Dahll Louise , Demir Korcan , Kara Cengiz , Kirbiyik Ozgur , Mammadova Jamala , Cayır Atilla , Yarali Oguzhan , Phan-Hug Franziska , Sakremath Rajesh , Mohamed Zainaba , Shinawi Marwan , Gill Harpreet , pacaud Daniele , Perrier Renee , Poke Gemma , Hunter Wendy , Douzgou Sofia , Wakeling Emma , Gardham Alice , Lim Derek , Shears Deborah , Freel Marie , Omladic Jasna , Tansek Mojca , Writzl Karin , Farooqi Sadaf , Kopp Peter , Schwabe John , Persani Luca , Chatterjee Krishna

Objectives: THRA mutations cause Resistance to Thyroid Hormone α (RTHα), an underdiagnosed disorder with hypothyroid features but near-normal thyroid function tests (TFTs). We developed a pathway, combining molecular analyses, new biomarkers and physiological measurements, to better diagnose and treat this disorder.Methods: Structural and functional analyses of THRA variants, discovered by next generation sequencing in specifi...

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Endocrine Abstracts

The Phenotyping of Overgrowth (POD) Study: a novel ‘no win, no fee’ model for translating research findings into clinical diagnoses

Resistance to thyroid hormone alpha: molecular, biochemical and physiological approach to diagnosis and therapy

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