Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients

B Calsina; M Curras-Freixes; A Buffet; T Pons; L Contreras; R Leton; I Comino-Mendez; L Remacha; M Calatayud; B Obispo; A Martin; R Cohen; S Richter; J Balmana; Esther Korpershoek; E Rapizzi; T Deutschbein; L Vroonen; J Favier; Ronald de Krijger; M Fassnacht; F Beuschlein; HJ Timmers; G Eisenhofer; M Mannelli; K Pacak; J Satrustegui; C Rodriguez-Antona; L Amar; A Cascon; N Dolker; AP Gimenez-Roqueplo; M Robledo

doi:10.1038/s41436-018-0068-7

Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients

B Calsina, M Curras-Freixes, A Buffet, T Pons, L Contreras, R Leton, I Comino-Mendez, L Remacha, M Calatayud, B Obispo, A Martin, R Cohen, S Richter, J Balmana, Esther Korpershoek, E Rapizzi, T Deutschbein, L Vroonen, J Favier, Ronald de KrijgerM Fassnacht, F Beuschlein, HJ Timmers, G Eisenhofer, M Mannelli, K Pacak, J Satrustegui, C Rodriguez-Antona, L Amar, A Cascon, N Dolker, AP Gimenez-Roqueplo, M Robledo

Pathology

Research output: Contribution to journal › Article › Academic › peer-review

52 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	1652-1662
Number of pages	11
Journal	Genetics in Medicine
Volume	20
Issue number	12
DOIs	https://doi.org/10.1038/s41436-018-0068-7
Publication status	Published - 2018

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EMC OR-01

Access to Document

10.1038/s41436-018-0068-7

http://hdl.handle.net/1765/109397

Cite this

Calsina, B., Curras-Freixes, M., Buffet, A., Pons, T., Contreras, L., Leton, R., Comino-Mendez, I., Remacha, L., Calatayud, M., Obispo, B., Martin, A., Cohen, R., Richter, S., Balmana, J., Korpershoek, E., Rapizzi, E., Deutschbein, T., Vroonen, L., Favier, J., ... Robledo, M. (2018). Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients. Genetics in Medicine, 20(12), 1652-1662. https://doi.org/10.1038/s41436-018-0068-7

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author = "B Calsina and M Curras-Freixes and A Buffet and T Pons and L Contreras and R Leton and I Comino-Mendez and L Remacha and M Calatayud and B Obispo and A Martin and R Cohen and S Richter and J Balmana and Esther Korpershoek and E Rapizzi and T Deutschbein and L Vroonen and J Favier and {de Krijger}, Ronald and M Fassnacht and F Beuschlein and HJ Timmers and G Eisenhofer and M Mannelli and K Pacak and J Satrustegui and C Rodriguez-Antona and L Amar and A Cascon and N Dolker and AP Gimenez-Roqueplo and M Robledo",

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doi = "10.1038/s41436-018-0068-7",

language = "Undefined/Unknown",

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Calsina, B, Curras-Freixes, M, Buffet, A, Pons, T, Contreras, L, Leton, R, Comino-Mendez, I, Remacha, L, Calatayud, M, Obispo, B, Martin, A, Cohen, R, Richter, S, Balmana, J, Korpershoek, E, Rapizzi, E, Deutschbein, T, Vroonen, L, Favier, J, de Krijger, R, Fassnacht, M, Beuschlein, F, Timmers, HJ, Eisenhofer, G, Mannelli, M, Pacak, K, Satrustegui, J, Rodriguez-Antona, C, Amar, L, Cascon, A, Dolker, N, Gimenez-Roqueplo, AP & Robledo, M 2018, 'Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients', Genetics in Medicine, vol. 20, no. 12, pp. 1652-1662. https://doi.org/10.1038/s41436-018-0068-7

TY - JOUR

T1 - Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients

AU - Calsina, B

AU - Curras-Freixes, M

AU - Buffet, A

AU - Pons, T

AU - Contreras, L

AU - Leton, R

AU - Comino-Mendez, I

AU - Remacha, L

AU - Calatayud, M

AU - Obispo, B

AU - Martin, A

AU - Cohen, R

AU - Richter, S

AU - Balmana, J

AU - Korpershoek, Esther

AU - Rapizzi, E

AU - Deutschbein, T

AU - Vroonen, L

AU - Favier, J

AU - de Krijger, Ronald

AU - Fassnacht, M

AU - Beuschlein, F

AU - Timmers, HJ

AU - Eisenhofer, G

AU - Mannelli, M

AU - Pacak, K

AU - Satrustegui, J

AU - Rodriguez-Antona, C

AU - Amar, L

AU - Cascon, A

AU - Dolker, N

AU - Gimenez-Roqueplo, AP

AU - Robledo, M

PY - 2018

Y1 - 2018

U2 - 10.1038/s41436-018-0068-7

DO - 10.1038/s41436-018-0068-7

M3 - Article

C2 - 30008476

SN - 1098-3600

VL - 20

SP - 1652

EP - 1662

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 12

ER -