Literature DB >> 24092654

A founder SDHB mutation in Portuguese paraganglioma patients.

Raquel G Martins1, Joana B Nunes, Valdemar Máximo, Paula Soares, Joana Peixoto, Telmo Catarino, Teresa Rito, Pedro Soares, Luísa Pereira, Manuel Sobrinho-Simões, Ana Paula Santos, Joana Couto, Rui Henrique, Joana Matos-Loureiro, Paula Dias, Isabel Torres, Jorge Lima.   

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Year:  2013        PMID： 24092654     DOI： 10.1530/ERC-12-0399

Source DB:  PubMed          Journal:  Endocr Relat Cancer        ISSN： 1351-0088            Impact factor:   5.678


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  6 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.  SDHB large deletions are associated with absence of MIBG uptake in metastatic lesions of malignant paragangliomas.

Authors:  Janaina Petenuci; Gustavo F C Fagundes; Anna Flavia F Benedetti; Augusto G Guimaraes; Ana Caroline F Afonso; Flavia T Mota; Aurea Luiza F Magalhães; George B Coura-Filho; Maria Claudia N Zerbini; Sheila Siqueira; Fabio L M Montenegro; Victor Srougi; Fabio Y Tanno; Jose Luis Chambo; Marcela S S Ferrari; Joao Evangelista Bezerra Neto; Maria Adelaide A Pereira; Ana Claudia Latronico; Maria Candida B V Fragoso; Berenice B Mendonca; Ana O Hoff; Madson Q Almeida
Journal:  Endocrine       Date:  2021-01-09       Impact factor: 3.633

3.  SDHx-related pheochromocytoma/paraganglioma - genetic, clinical, and treatment outcomes in a series of 30 patients from a single center.

Authors:  Sara Donato; Helder Simões; Ana Teresa Pinto; Branca M Cavaco; Valeriano Leite
Journal:  Endocrine       Date:  2019-05-18       Impact factor: 3.633

4.  The role of germline mutations in the BRCA1/2 and mismatch repair genes in men ascertained for early-onset and/or familial prostate cancer.

Authors:  Sofia Maia; Marta Cardoso; Paula Paulo; Manuela Pinheiro; Pedro Pinto; Catarina Santos; Carla Pinto; Ana Peixoto; Rui Henrique; Manuel R Teixeira
Journal:  Fam Cancer       Date:  2016-01       Impact factor: 2.375

5.  Dutch founder SDHB exon 3 deletion in patients with pheochromocytoma-paraganglioma in South Africa.

Authors:  Debra M Gordon; Pablo Beckers; Emilie Castermans; Sebastian J C M M Neggers; Liliya Rostomyan; Vincent Bours; Patrick Petrossians; Vinciane Dideberg; Albert Beckers; Adrian F Daly
Journal:  Endocr Connect       Date:  2022-01-31       Impact factor: 3.335

Review 6.  Paragangliomas/Pheochromocytomas: clinically oriented genetic testing.

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

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