نتایج جستجو برای: meg3

تعداد نتایج: 407  

Journal: :Azhar International Journal of Pharmaceutical and Medical Sciences (Print) 2023

2015
Luis Jaime Castro-Vega Eric Letouzé Nelly Burnichon Alexandre Buffet Pierre-Hélie Disderot Emmanuel Khalifa Céline Loriot Nabila Elarouci Aurélie Morin Mélanie Menara Charlotte Lepoutre-Lussey Cécile Badoual Mathilde Sibony Bertrand Dousset Rossella Libé Franck Zinzindohoue Pierre François Plouin Jérôme Bertherat Laurence Amar Aurélien de Reyniès Judith Favier Anne-Paule Gimenez-Roqueplo

Pheochromocytomas and paragangliomas (PCCs/PGLs) are neural crest-derived tumours with a very strong genetic component. Here we report the first integrated genomic examination of a large collection of PCC/PGL. SNP array analysis reveals distinct copy-number patterns associated with genetic background. Whole-exome sequencing shows a low mutation rate of 0.3 mutations per megabase, with few recur...

2016
Stefania Benonisdottir Asmundur Oddsson Agnar Helgason Ragnar P Kristjansson Gardar Sveinbjornsson Arna Oskarsdottir Gudmar Thorleifsson Olafur B Davidsson Gudny A Arnadottir Gerald Sulem Brynjar O Jensson Hilma Holm Kristjan F Alexandersson Laufey Tryggvadottir G Bragi Walters Sigurjon A Gudjonsson Lucas D Ward Jon K Sigurdsson Paul D Iordache Michael L Frigge Thorunn Rafnar Augustine Kong Gisli Masson Hannes Helgason Unnur Thorsteinsdottir Daniel F Gudbjartsson Patrick Sulem Kari Stefansson

Adult height is a highly heritable trait. Here we identified 31.6 million sequence variants by whole-genome sequencing of 8,453 Icelanders and tested them for association with adult height by imputing them into 88,835 Icelanders. Here we discovered 13 novel height associations by testing four different models including parent-of-origin (|β|=0.4-10.6 cm). The minor alleles of three parent-of-ori...

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