Literature DB >> 23750034

Germline SDHA mutation detected by next-generation sequencing in a young index patient with large paraganglioma.

Jenny Welander1, Stina Garvin, Rickard Bohnmark, Lars Isaksson, Roger W Wiseman, Peter Söderkvist, Oliver Gimm.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2013        PMID： 23750034     DOI： 10.1210/jc.2013-1963

Source DB:  PubMed          Journal:  J Clin Endocrinol Metab        ISSN： 0021-972X            Impact factor:   5.958


× No keyword cloud information.
  10 in total

1.  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).

Authors:  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
Journal:  Mod Pathol       Date:  2015-02-27       Impact factor: 7.842

2.  Malignant phenotype and two SDHD mutations in a family with paraganglioma syndrome type 1.

Authors:  Franciele B Leidenz; Luciana Bastos-Rodrigues; Marcelo Oliveira; Marcelo Mamede; Marta Sarquis; Eitan Friedman; Luiz de Marco
Journal:  Genet Res (Camb)       Date:  2015-03-30       Impact factor: 1.588

3.  SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.

Authors:  G Herma Renkema; Saskia B Wortmann; Roel J Smeets; Hanka Venselaar; Marion Antoine; Gepke Visser; Tawfeg Ben-Omran; Lambert P van den Heuvel; Henri J L M Timmers; Jan A Smeitink; Richard J T Rodenburg
Journal:  Eur J Hum Genet       Date:  2014-04-30       Impact factor: 4.246

4.  The adrenal medulla and extra-adrenal paraganglia: then and now.

Authors:  Arthur S Tischler; Karel Pacak; Graeme Eisenhofer
Journal:  Endocr Pathol       Date:  2014-03       Impact factor: 3.943

Review 5.  Metabologenomics of Phaeochromocytoma and Paraganglioma: An Integrated Approach for Personalised Biochemical and Genetic Testing.

Authors:  Graeme Eisenhofer; Barbara Klink; Susan Richter; Jacques Wm Lenders; Mercedes Robledo
Journal:  Clin Biochem Rev       Date:  2017-04

6.  Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.

Authors:  Jenny Welander; Adam Andreasson; C Christofer Juhlin; Roger W Wiseman; Martin Bäckdahl; Anders Höög; Catharina Larsson; Oliver Gimm; Peter Söderkvist
Journal:  J Clin Endocrinol Metab       Date:  2014-04-02       Impact factor: 5.958

7.  Pathogenicity and Penetrance of Germline SDHA Variants in Pheochromocytoma and Paraganglioma (PPGL).

Authors:  Pavithran Maniam; Kaixin Zhou; Mike Lonergan; Jonathan N Berg; David R Goudie; Paul J Newey
Journal:  J Endocr Soc       Date:  2018-06-18

8.  Clinical, Diagnostic, and Treatment Characteristics of SDHA-Related Metastatic Pheochromocytoma and Paraganglioma.

Authors:  Abhishek Jha; Kristine de Luna; Charlene Ann Balili; Corina Millo; Cecilia Angela Paraiso; Alexander Ling; Melissa K Gonzales; Bruna Viana; Rami Alrezk; Karen T Adams; Isabel Tena; Alice Chen; Jiri Neuzil; Margarita Raygada; Electron Kebebew; David Taieb; M Sue O'Dorisio; Thomas O'Dorisio; Ali Cahid Civelek; Constantine A Stratakis; Leilani Mercado-Asis; Karel Pacak
Journal:  Front Oncol       Date:  2019-02-22       Impact factor: 6.244

Review 9.  Paragangliomas/Pheochromocytomas: clinically oriented genetic testing.

Authors:  Rute Martins; Maria João Bugalho
Journal:  Int J Endocrinol       Date:  2014-05-12       Impact factor: 3.257

Review 10.  A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?

Authors:  Bernardo Dias Pereira; Tiago Nunes da Silva; Ana Teresa Bernardo; Rui César; Henrique Vara Luiz; Karel Pacak; Luísa Mota-Vieira
Journal:  Int J Endocrinol       Date:  2018-03-20       Impact factor: 3.257
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.