Literature DB >> 22638655

Carney Stratakis syndrome in a patient with SDHD mutation.

Carmen Tenorio Jiménez1, Louise Izatt, Fuju Chang, Mufaddal T Moonim, Paul V Carroll, Barbara M McGowan.   

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Year:  2012        PMID: 22638655     DOI: 10.1007/s12022-012-9213-z

Source DB:  PubMed          Journal:  Endocr Pathol        ISSN: 1046-3976            Impact factor:   3.943


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  20 in total

1.  SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors.

Authors:  José Gaal; Constantine A Stratakis; J Aidan Carney; Evan R Ball; Esther Korpershoek; Maya B Lodish; Isaac Levy; Paraskevi Xekouki; Francien H van Nederveen; Michael A den Bakker; Maureen O'Sullivan; Winand N M Dinjens; Ronald R de Krijger
Journal:  Mod Pathol       Date:  2010-10-01       Impact factor: 7.842

2.  Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.

Authors:  Katherine A Janeway; Su Young Kim; Maya Lodish; Vânia Nosé; Pierre Rustin; José Gaal; Patricia L M Dahia; Bernadette Liegl; Evan R Ball; Margarita Raygada; Angela H Lai; Lorna Kelly; Jason L Hornick; Maureen O'Sullivan; Ronald R de Krijger; Winand N M Dinjens; George D Demetri; Cristina R Antonescu; Jonathan A Fletcher; Lee Helman; Constantine A Stratakis
Journal:  Proc Natl Acad Sci U S A       Date:  2010-12-20       Impact factor: 11.205

Review 3.  Hereditary paragangliomas.

Authors:  Margarita Raygada; Barbara Pasini; Constantine A Stratakis
Journal:  Adv Otorhinolaryngol       Date:  2011-02-24

4.  Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes.

Authors:  Anthony J Gill; Diana E Benn; Angela Chou; Adele Clarkson; Anita Muljono; Goswin Y Meyer-Rochow; Anne Louise Richardson; Stan B Sidhu; Bruce G Robinson; Roderick J Clifton-Bligh
Journal:  Hum Pathol       Date:  2010-03-17       Impact factor: 3.466

5.  Immunohistochemistry for SDHB divides gastrointestinal stromal tumors (GISTs) into 2 distinct types.

Authors:  Anthony J Gill; Angela Chou; Ricardo Vilain; Adele Clarkson; Millie Lui; Richard Jin; Vivienne Tobias; Jaswinder Samra; David Goldstein; Celia Smith; Loretta Sioson; Nicole Parker; Ross C Smith; Mark Sywak; Stan B Sidhu; Jenny Ma Wyatt; Bruce G Robinson; Robert P Eckstein; Diana E Benn; Roderick J Clifton-Bligh
Journal:  Am J Surg Pathol       Date:  2010-05       Impact factor: 6.394

6.  Succinate dehydrogenase-deficient GISTs: a clinicopathologic, immunohistochemical, and molecular genetic study of 66 gastric GISTs with predilection to young age.

Authors:  Markku Miettinen; Zeng-Feng Wang; Maarit Sarlomo-Rikala; Czeslaw Osuch; Piotr Rutkowski; Jerzy Lasota
Journal:  Am J Surg Pathol       Date:  2011-11       Impact factor: 6.394

7.  Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.

Authors:  Hartmut P H Neumann; Christian Pawlu; Mariola Peczkowska; Birke Bausch; Sarah R McWhinney; Mihaela Muresan; Mary Buchta; Gerlind Franke; Joachim Klisch; Thorsten A Bley; Stefan Hoegerle; Carsten C Boedeker; Giuseppe Opocher; Jörg Schipper; Andrzej Januszewicz; Charis Eng
Journal:  JAMA       Date:  2004-08-25       Impact factor: 56.272

8.  Molecular characterization of pediatric gastrointestinal stromal tumors.

Authors:  Narasimhan P Agaram; Michael P Laquaglia; Berrin Ustun; Tianhua Guo; Grace C Wong; Nicholas D Socci; Robert G Maki; Ronald P DeMatteo; Peter Besmer; Cristina R Antonescu
Journal:  Clin Cancer Res       Date:  2008-05-15       Impact factor: 12.531

Review 9.  Carney triad: a syndrome featuring paraganglionic, adrenocortical, and possibly other endocrine tumors.

Authors:  J Aidan Carney
Journal:  J Clin Endocrinol Metab       Date:  2009-09-01       Impact factor: 5.958

Review 10.  The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications.

Authors:  C A Stratakis; J A Carney
Journal:  J Intern Med       Date:  2009-07       Impact factor: 8.989

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  4 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.  Resection of a large carotid paraganglioma in Carney-Stratakis syndrome: a multidisciplinary feat.

Authors:  Rebecca Spenser Nicholas; Ayyaz Quddus; Charlotte Topham; Daryll Baker
Journal:  BMJ Case Rep       Date:  2015-04-16

Review 3.  Syndromic gastrointestinal stromal tumors.

Authors:  Riccardo Ricci
Journal:  Hered Cancer Clin Pract       Date:  2016-07-19       Impact factor: 2.857

Review 4.  Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations.

Authors:  Lucie Evenepoel; Thomas G Papathomas; Niels Krol; Esther Korpershoek; Ronald R de Krijger; Alexandre Persu; Winand N M Dinjens
Journal:  Genet Med       Date:  2014-11-13       Impact factor: 8.822

  4 in total

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