Literature DB >> 29700698

A novel nonsense EIF1AX mutation identified in a thyroid nodule histologically diagnosed as oncocytic carcinoma.

Marialuisa Sponziello1, Gabriella Silvestri2, Antonella Verrienti3, Alessia Perna2, Francesca Rosignolo1, Chiara Brunelli4, Valeria Pecce1, Esther Diana Rossi4, Celestino Pio Lombardi5, Cosimo Durante1, Sebastiano Filetti1, Guido Fadda4.   

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Year:  2018        PMID： 29700698     DOI： 10.1007/s12020-018-1611-7

Source DB:  PubMed          Journal:  Endocrine        ISSN： 1355-008X            Impact factor:   3.633


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  19 in total

1.  Prevalence and phenotypic correlations of EIF1AX mutations in thyroid nodules.

Authors:  Arivarasan Karunamurthy; Federica Panebianco; Susan J Hsiao; Jennie Vorhauer; Marina N Nikiforova; Simion Chiosea; Yuri E Nikiforov
Journal:  Endocr Relat Cancer       Date:  2016-02-24       Impact factor: 5.678

Review 2.  Current state and future perspective of molecular diagnosis of fine-needle aspiration biopsy of thyroid nodules.

Authors:  Carolina Ferraz; Markus Eszlinger; Ralf Paschke
Journal:  J Clin Endocrinol Metab       Date:  2011-05-18       Impact factor: 5.958

Review 3.  2015 American Thyroid Association Management Guidelines for Adult Patients with Thyroid Nodules and Differentiated Thyroid Cancer: The American Thyroid Association Guidelines Task Force on Thyroid Nodules and Differentiated Thyroid Cancer.

Authors:  Bryan R Haugen; Erik K Alexander; Keith C Bible; Gerard M Doherty; Susan J Mandel; Yuri E Nikiforov; Furio Pacini; Gregory W Randolph; Anna M Sawka; Martin Schlumberger; Kathryn G Schuff; Steven I Sherman; Julie Ann Sosa; David L Steward; R Michael Tuttle; Leonard Wartofsky
Journal:  Thyroid       Date:  2016-01       Impact factor: 6.568

4.  Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation.

Authors:  Roberto Fernández-Torrón; Mikel García-Puga; José-Ignacio Emparanza; Miren Maneiro; Ana-María Cobo; Juan-José Poza; Juan-Bautista Espinal; Miren Zulaica; Irune Ruiz; Loreto Martorell; David Otaegui; Ander Matheu; Adolfo López de Munain
Journal:  Neurology       Date:  2016-08-24       Impact factor: 9.910

5.  The natural history of benign thyroid nodules.

Authors:  Cosimo Durante; Giuseppe Costante; Giuseppe Lucisano; Rocco Bruno; Domenico Meringolo; Alessandra Paciaroni; Efisio Puxeddu; Massimo Torlontano; Salvatore Tumino; Marco Attard; Livia Lamartina; Antonio Nicolucci; Sebastiano Filetti
Journal:  JAMA       Date:  2015-03-03       Impact factor: 56.272

6.  Integrated genomic characterization of papillary thyroid carcinoma.

Authors: 
Journal:  Cell       Date:  2014-10-23       Impact factor: 41.582

7.  Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions.

Authors:  Massimo Santoro; Marcella Masciullo; Roberta Pietrobono; Giulia Conte; Anna Modoni; Maria Laura E Bianchi; Valentina Rizzo; Maria Grazia Pomponi; Giorgio Tasca; Giovanni Neri; Gabriella Silvestri
Journal:  J Neurol       Date:  2012-12-23       Impact factor: 4.849

8.  Highly accurate diagnosis of cancer in thyroid nodules with follicular neoplasm/suspicious for a follicular neoplasm cytology by ThyroSeq v2 next-generation sequencing assay.

Authors:  Yuri E Nikiforov; Sally E Carty; Simon I Chiosea; Christopher Coyne; Umamaheswar Duvvuri; Robert L Ferris; William E Gooding; Steven P Hodak; Shane O LeBeau; N Paul Ohori; Raja R Seethala; Mitchell E Tublin; Linwah Yip; Marina N Nikiforova
Journal:  Cancer       Date:  2014-09-10       Impact factor: 6.860

9.  EIF1AX Mutation in a Patient with Hürthle Cell Carcinoma.

Authors:  Michael C Topf; Zi-Xuan Wang; Kevin Furlong; Jeffrey L Miller; Madalina Tuluc; Edmund A Pribitkin
Journal:  Endocr Pathol       Date:  2018-03       Impact factor: 3.943

Review 10.  The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.

Authors:  Peter D Stenson; Matthew Mort; Edward V Ball; Katy Evans; Matthew Hayden; Sally Heywood; Michelle Hussain; Andrew D Phillips; David N Cooper
Journal:  Hum Genet       Date:  2017-03-27       Impact factor: 4.132
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  2 in total

1.  Analytical validation of a novel targeted next-generation sequencing assay for mutation detection in thyroid nodule aspirates and tissue.

Authors:  Antonella Verrienti; Valeria Pecce; Luana Abballe; Valeria Ramundo; Rosa Falcone; Farzaneh Inanloo Nigi Jak; Chiara Brunelli; Guido Fadda; Daniela Bosco; Valeria Ascoli; Raffaella Carletti; Cira Di Gioia; Giorgio Grani; Marialuisa Sponziello
Journal:  Endocrine       Date:  2020-06-06       Impact factor: 3.633

2.  Mutation profiles of follicular thyroid tumors by targeted sequencing.

Authors:  Huanli Duan; Xiaoding Liu; Xinyu Ren; Hui Zhang; Huanwen Wu; Zhiyong Liang
Journal:  Diagn Pathol       Date:  2019-05-10       Impact factor: 2.644
  2 in total

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