Showing 1–18 of 18 results
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Clinical and molecular genetics of patients with the Carney–Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD
- Barbara Pasini
- , Sarah R McWhinney
- , Thalia Bei
- , Ludmila Matyakhina
- , Sotirios Stergiopoulos
- , Michael Muchow
- , Sosipatros A Boikos
- , Barbara Ferrando
- , Karel Pacak
- , Guillaume Assie
- , Eric Baudin
- , Agnes Chompret
- , Jay W Ellison
- , Jean-Jacques Briere
- , Pierre Rustin
- , Anne-Paule Gimenez-Roqueplo
- , Charis Eng
- , J Aidan Carney
- & Constantine A Stratakis
European Journal of Human Genetics 16 , 79–88 -
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Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma
- Susan Richter
- , Laura Gieldon
- , Ying Pang
- , Mirko Peitzsch
- , Thanh Huynh
- , Rocio Leton
- , Bruna Viana
- , Tonino Ercolino
- , Anastasios Mangelis
- , Elena Rapizzi
- , Mario Menschikowski
- , Daniela Aust
- , Matthias Kroiss
- , Felix Beuschlein
- , Volker Gudziol
- , Henri JLM Timmers
- , Jacques Lenders
- , Massimo Mannelli
- , Alberto Cascon
- , Karel Pacak
- , Mercedes Robledo
- , Graeme Eisenhofer
- & Barbara Klink
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Research | | Open
Alternative assembly of respiratory complex II connects energy stress to metabolic checkpoints
- Ayenachew Bezawork-Geleta
- , He Wen
- , LanFeng Dong
- , Bing Yan
- , Jelena Vider
- , Stepana Boukalova
- , Linda Krobova
- , Katerina Vanova
- , Renata Zobalova
- , Margarita Sobol
- , Pavel Hozak
- , Silvia Magalhaes Novais
- , Veronika Caisova
- , Pavel Abaffy
- , Ravindra Naraine
- , Ying Pang
- , Thiri Zaw
- , Ping Zhang
- , Radek Sindelka
- , Mikael Kubista
- , Steven Zuryn
- , Mark P. Molloy
- , Michael V. Berridge
- , Karel Pacak
- , Jakub Rohlena
- , Sunghyouk Park
- & Jiri Neuzil
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Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients
- Bruna Calsina
- , Maria Currás-Freixes
- , Alexandre Buffet
- , Tirso Pons
- , Laura Contreras
- , Rocío Letón
- , Iñaki Comino-Méndez
- , Laura Remacha
- , María Calatayud
- , Berta Obispo
- , Antoine Martin
- , Regis Cohen
- , Susan Richter
- , Judith Balmaña
- , Esther Korpershoek
- , Elena Rapizzi
- , Timo Deutschbein
- , Laurent Vroonen
- , Judith Favier
- , Ronald R. de Krijger
- , Martin Fassnacht
- , Felix Beuschlein
- , Henri J. Timmers
- , Graeme Eisenhofer
- , Massimo Mannelli
- , Karel Pacak
- , Jorgina Satrústegui
- , Cristina Rodríguez-Antona
- , Laurence Amar
- , Alberto Cascón
- , Nicole Dölker
- , Anne-Paule Gimenez-Roqueplo
- & Mercedes Robledo
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SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T)
- Thomas G Papathomas
- , Lindsey Oudijk
- , Alexandre Persu
- , Anthony J Gill
- , Francien van Nederveen
- , Arthur S Tischler
- , Frédérique Tissier
- , Marco Volante
- , Xavier Matias-Guiu
- , Marcel Smid
- , Judith Favier
- , Elena Rapizzi
- , Rosella Libe
- , Maria Currás-Freixes
- , Selda Aydin
- , Thanh Huynh
- , Urs Lichtenauer
- , Anouk van Berkel
- , Letizia Canu
- , Rita Domingues
- , Roderick J Clifton-Bligh
- , Magdalena Bialas
- , Miikka Vikkula
- , Gustavo Baretton
- , Mauro Papotti
- , Gabriella Nesi
- , Cécile Badoual
- , Karel Pacak
- , Graeme Eisenhofer
- , Henri J Timmers
- , Felix Beuschlein
- , Jérôme Bertherat
- , Massimo Mannelli
- , Mercedes Robledo
- , Anne-Paule Gimenez-Roqueplo
- , Winand NM Dinjens
- , Esther Korpershoek
- & Ronald R de Krijger
Modern Pathology 28 , 807–821 -
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