Literature DB >> 20513144

Are we overestimating the penetrance of mutations in SDHB?

Francesca Schiavi, Roger L Milne, Emma Anda, Pilar Blay, Maurizio Castellano, Giuseppe Opocher, Mercedes Robledo, Alberto Cascón.   

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Year:  2010        PMID： 20513144     DOI： 10.1002/humu.21269

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  20 in total

1.  Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas.

Authors:  Laura Remacha; David Pirman; Christopher E Mahoney; Javier Coloma; Bruna Calsina; Maria Currás-Freixes; Rocío Letón; Rafael Torres-Pérez; Susan Richter; Guillermo Pita; Belén Herráez; Giovanni Cianchetta; Emiliano Honrado; Lorena Maestre; Miguel Urioste; Javier Aller; Óscar García-Uriarte; María Ángeles Gálvez; Raúl M Luque; Marcos Lahera; Cristina Moreno-Rengel; Graeme Eisenhofer; Cristina Montero-Conde; Cristina Rodríguez-Antona; Óscar Llorca; Gromoslaw A Smolen; Mercedes Robledo; Alberto Cascón
Journal:  Am J Hum Genet       Date:  2019-03-28       Impact factor: 11.025

Review 2.  Pheochromocytoma and paraganglioma: diagnosis, genetics, management, and treatment.

Authors:  Victoria L Martucci; Karel Pacak
Journal:  Curr Probl Cancer       Date:  2014-01-15       Impact factor: 3.187

3.  Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling.

Authors:  Sabine Grønborg; Niklas Darin; Maria J Miranda; Bodil Damgaard; Jorge Asin Cayuela; Anders Oldfors; Gittan Kollberg; Thomas V O Hansen; Kirstine Ravn; Flemming Wibrand; Elsebet Østergaard
Journal:  JIMD Rep       Date:  2016-09-08

4.  A novel SDHB mutation associated with hereditary head and neck paraganglioma.

Authors:  Brandon W Peck; Thereasa A Rich; Camilo Jimenez; Michael E Kupferman
Journal:  Laryngoscope       Date:  2011-12       Impact factor: 3.325

Review 5.  New Perspectives on Pheochromocytoma and Paraganglioma: Toward a Molecular Classification.

Authors:  Joakim Crona; David Taïeb; Karel Pacak
Journal:  Endocr Rev       Date:  2017-12-01       Impact factor: 19.871

6.  SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations.

Authors:  Ivana Jochmanova; Katherine I Wolf; Kathryn S King; Joan Nambuba; Robert Wesley; Victoria Martucci; Margarita Raygada; Karen T Adams; Tamara Prodanov; Antonio Tito Fojo; Ivica Lazurova; Karel Pacak
Journal:  J Cancer Res Clin Oncol       Date:  2017-04-03       Impact factor: 4.553

7.  European Association of Nuclear Medicine Practice Guideline/Society of Nuclear Medicine and Molecular Imaging Procedure Standard 2019 for radionuclide imaging of phaeochromocytoma and paraganglioma.

Authors:  David Taïeb; Rodney J Hicks; Elif Hindié; Benjamin A Guillet; Anca Avram; Pietro Ghedini; Henri J Timmers; Aaron T Scott; Saeed Elojeimy; Domenico Rubello; Irène J Virgolini; Stefano Fanti; Sona Balogova; Neeta Pandit-Taskar; Karel Pacak
Journal:  Eur J Nucl Med Mol Imaging       Date:  2019-06-29       Impact factor: 9.236

Review 8.  Current and future treatments for malignant pheochromocytoma and sympathetic paraganglioma.

Authors:  Camilo Jimenez; Eric Rohren; Mouhammed Amir Habra; Thereasa Rich; Paola Jimenez; Montserrat Ayala-Ramirez; Eric Baudin
Journal:  Curr Oncol Rep       Date:  2013-08       Impact factor: 5.075

Review 9.  Molecular and therapeutic advances in the diagnosis and management of malignant pheochromocytomas and paragangliomas.

Authors:  Aoife J Lowery; Siun Walsh; Enda W McDermott; Ruth S Prichard
Journal:  Oncologist       Date:  2013-04-10

Review 10.  Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma.

Authors:  Erik F Hensen; Jean-Pierre Bayley
Journal:  Fam Cancer       Date:  2011-06       Impact factor: 2.375
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