Literature DB >> 25099851

Phaeochromocytoma and paraganglioma: next-generation sequencing and evolving Mendelian syndromes.

Eamonn R Maher1.   

Abstract

Entities:  

Keywords:  DNA sequencing; genetics; paraganglioma; phaeochromocytoma

Mesh：

Substances：

Year:  2014        PMID： 25099851      PMCID： PMC4952843          DOI： 10.7861/clinmedicine.14-4-440

Source DB:  PubMed          Journal:  Clin Med (Lond)        ISSN： 1470-2118            Impact factor:   2.659


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  23 in total

1.  Germ-line mutations in nonsyndromic pheochromocytoma.

Authors:  Hartmut P H Neumann; Birke Bausch; Sarah R McWhinney; Bernhard U Bender; Oliver Gimm; Gerlind Franke; Joerg Schipper; Joachim Klisch; Carsten Altehoefer; Klaus Zerres; Andrzej Januszewicz; Charis Eng; Wendy M Smith; Robin Munk; Tanja Manz; Sven Glaesker; Thomas W Apel; Markus Treier; Martin Reineke; Martin K Walz; Cuong Hoang-Vu; Michael Brauckhoff; Andreas Klein-Franke; Peter Klose; Heinrich Schmidt; Margarete Maier-Woelfle; Mariola Peçzkowska; Cesary Szmigielski; Charis Eng
Journal:  N Engl J Med       Date:  2002-05-09       Impact factor: 91.245

2.  Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.

Authors:  E R Woodward; C Eng; R McMahon; R Voutilainen; N A Affara; B A Ponder; E R Maher
Journal:  Hum Mol Genet       Date:  1997-07       Impact factor: 6.150

3.  Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.

Authors:  Iñaki Comino-Méndez; Francisco J Gracia-Aznárez; Francesca Schiavi; Iñigo Landa; Luis J Leandro-García; Rocío Letón; Emiliano Honrado; Rocío Ramos-Medina; Daniela Caronia; Guillermo Pita; Alvaro Gómez-Graña; Aguirre A de Cubas; Lucía Inglada-Pérez; Agnieszka Maliszewska; Elisa Taschin; Sara Bobisse; Giuseppe Pica; Paola Loli; Rafael Hernández-Lavado; José A Díaz; Mercedes Gómez-Morales; Anna González-Neira; Giovanna Roncador; Cristina Rodríguez-Antona; Javier Benítez; Massimo Mannelli; Giuseppe Opocher; Mercedes Robledo; Alberto Cascón
Journal:  Nat Genet       Date:  2011-06-19       Impact factor: 38.330

4.  Molecular implications of RET mutations for pheochromocytoma risk in multiple endocrine neoplasia 2.

Authors:  Taranjit S Gujral; Lois M Mulligan
Journal:  Ann N Y Acad Sci       Date:  2006-08       Impact factor: 5.691

5.  Phaeochromocytoma, new genes and screening strategies.

Authors:  Anne-Paule Gimenez-Roqueplo; Hendrik Lehnert; Massimo Mannelli; Hartmut Neumann; Giuseppe Opocher; Eamonn R Maher; Pierre-François Plouin
Journal:  Clin Endocrinol (Oxf)       Date:  2006-12       Impact factor: 3.478

6.  SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma.

Authors:  Huai-Xiang Hao; Oleh Khalimonchuk; Margit Schraders; Noah Dephoure; Jean-Pierre Bayley; Henricus Kunst; Peter Devilee; Cor W R J Cremers; Joshua D Schiffman; Brandon G Bentz; Steven P Gygi; Dennis R Winge; Hannie Kremer; Jared Rutter
Journal:  Science       Date:  2009-07-23       Impact factor: 47.728

7.  Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.

Authors:  Anne-Paule Gimenez-Roqueplo; Judith Favier; Pierre Rustin; Claudine Rieubland; Malvina Crespin; Valérie Nau; Philippe Khau Van Kien; Pierre Corvol; Pierre-François Plouin; Xavier Jeunemaitre
Journal:  Cancer Res       Date:  2003-09-01       Impact factor: 12.701

Review 8.  The genetics of phaeochromocytoma: using clinical features to guide genetic testing.

Authors:  Mariam Jafri; Eamonn R Maher
Journal:  Eur J Endocrinol       Date:  2011-09-06       Impact factor: 6.664

9.  Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.

Authors:  Mariam Jafri; James Whitworth; Eleanor Rattenberry; Lindsey Vialard; Gail Kilby; Ajith V Kumar; Louise Izatt; Fiona Lalloo; Paul Brennan; Jackie Cook; Patrick J Morrison; Natalie Canham; Ruth Armstrong; Carole Brewer; Susan Tomkins; Alan Donaldson; Julian Barwell; Trevor R Cole; A Brew Atkinson; Simon Aylwin; Steve G Ball; Umasuthan Srirangalingam; Shern L Chew; Dafydd Gareth R Evans; Shirley V Hodgson; Richard Irving; Emma Woodward; Fiona Macdonald; Eamonn R Maher
Journal:  Clin Endocrinol (Oxf)       Date:  2013-04-06       Impact factor: 3.478

10.  A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

Authors:  Eleanor Rattenberry; Lindsey Vialard; Anna Yeung; Hayley Bair; Kirsten McKay; Mariam Jafri; Natalie Canham; Trevor R Cole; Judit Denes; Shirley V Hodgson; Richard Irving; Louise Izatt; Márta Korbonits; Ajith V Kumar; Fiona Lalloo; Patrick J Morrison; Emma R Woodward; Fiona Macdonald; Yvonne Wallis; Eamonn R Maher
Journal:  J Clin Endocrinol Metab       Date:  2013-05-10       Impact factor: 5.958
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  3 in total

1.  Striking parallels between carotid body glomus cell and adrenal chromaffin cell development.

Authors:  Dorit Hockman; Igor Adameyko; Marketa Kaucka; Perrine Barraud; Tomoki Otani; Adam Hunt; Anna C Hartwig; Elisabeth Sock; Dominic Waithe; Marina C M Franck; Patrik Ernfors; Sean Ehinger; Marthe J Howard; Naoko Brown; Jeffrey Reese; Clare V H Baker
Journal:  Dev Biol       Date:  2018-05-25       Impact factor: 3.582

Review 2.  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

3.  Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

Authors:  Katrina A Andrews; David B Ascher; Douglas Eduardo Valente Pires; Daniel R Barnes; Lindsey Vialard; Ruth T Casey; Nicola Bradshaw; Julian Adlard; Simon Aylwin; Paul Brennan; Carole Brewer; Trevor Cole; Jackie A Cook; Rosemarie Davidson; Alan Donaldson; Alan Fryer; Lynn Greenhalgh; Shirley V Hodgson; Richard Irving; Fiona Lalloo; Michelle McConachie; Vivienne P M McConnell; Patrick J Morrison; Victoria Murday; Soo-Mi Park; Helen L Simpson; Katie Snape; Susan Stewart; Susan E Tomkins; Yvonne Wallis; Louise Izatt; David Goudie; Robert S Lindsay; Colin G Perry; Emma R Woodward; Antonis C Antoniou; Eamonn R Maher
Journal:  J Med Genet       Date:  2018-01-31       Impact factor: 6.318
  3 in total

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