Literature DB >> 9452077

A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma.

O Fattoruso1, L Quadro, A Libroia, U Verga, G Lupoli, E Cascone, V Colantuoni.   

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Year:  1998        PMID: 9452077     DOI: 10.1002/humu.1380110156

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


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  10 in total

1.  Seventeen-year-long follow-up of a family affected by type 2A multiple endocrine neoplasia (MEN 2A).

Authors:  A Libroia; U Verga; G Vecchi; F Banfi; F Zurleni; L Quadro; C Scurini; O Fattoruso; V Colantuoni
Journal:  J Endocrinol Invest       Date:  1998-02       Impact factor: 4.256

2.  The RET mutation E768D confers a late-onset familial medullary thyroid carcinoma -- only phenotype with incomplete penetrance: implications for screening and management of carrier status.

Authors:  Tabib Dabir; Steven J Hunter; Colin F J Russell; Damien McCall; Patrick J Morrison
Journal:  Fam Cancer       Date:  2006       Impact factor: 2.375

3.  Prevalence by age and predictors of medullary thyroid cancer in patients with lower risk germline RET proto-oncogene mutations.

Authors:  Thereasa A Rich; Lei Feng; Naifa Busaidy; Gilbert J Cote; Robert F Gagel; Mimi Hu; Camilo Jimenez; Jeffrey E Lee; Nancy Perrier; Steven I Sherman; Steven G Waguespack; Anita Ying; Elizabeth Grubbs
Journal:  Thyroid       Date:  2014-06-06       Impact factor: 6.568

Review 4.  Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis.

Authors:  J R Hansford; L M Mulligan
Journal:  J Med Genet       Date:  2000-11       Impact factor: 6.318

5.  Genotype-phenotype correlations in Hungarian patients with hereditary medullary thyroid cancer.

Authors:  Attila Patocs; Izabella Klein; Aniko Szilvasi; Peter Gergics; Miklos Toth; Zsuzsa Valkusz; Erzsebet Forizs; Peter Igaz; Yousuf Al-Farhat; Attila Tordai; Andras Varadi; Karoly Racz; Olga Esik
Journal:  Wien Klin Wochenschr       Date:  2006-07       Impact factor: 1.704

Review 6.  Prophylactic thyroidectomy in multiple endocrine neoplasia: the impact of molecular mechanisms of RET proto-oncogene.

Authors:  Andrea Frilling; Frank Weber; Carsten Tecklenborg; Christoph Erich Broelsch
Journal:  Langenbecks Arch Surg       Date:  2003-03-25       Impact factor: 3.445

7.  Characterization of the largest kindred with MEN2A due to a Cys609Ser RET mutation.

Authors:  Caterina Mian; Susi Barollo; Laura Zambonin; Gianmaria Pennelli; Paolo Bernante; Maria Rosa Pelizzo; Davide Nacamulli; Franco Mantero; Maria Elisa Girelli; Giuseppe Opocher
Journal:  Fam Cancer       Date:  2009-05-28       Impact factor: 2.375

8.  The minisequencing method: a simple strategy for genetic screening of MEN 2 families.

Authors:  Maria João Bugalho; Rita Domingues; Luís Sobrinho
Journal:  BMC Genet       Date:  2002-05-31       Impact factor: 2.797

Review 9.  RET codon 609 mutations: a contribution for better clinical managing.

Authors:  Caterina Mian; Paola Sartorato; Susi Barollo; Mariangela Zane; Giuseppe Opocher
Journal:  Clinics (Sao Paulo)       Date:  2012       Impact factor: 2.365

10.  A Case of medullary thyroid carcinoma with de novo V804M RET germline mutation.

Authors:  Young Sik Choi; Hye Jung Kwon; Bu Kyung Kim; Su Kyoung Kwon; Yo Han Park; Jeong Hoon Kim; Sang Bong Jung; Chang Hoon Lee; Seong Keun Lee; Shinya Uchino
Journal:  J Korean Med Sci       Date:  2013-01-08       Impact factor: 2.153

  10 in total

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