Literature DB >> 8595427

Two maternally derived missense mutations in the tyrosine kinase domain of the RET protooncogene in a patient with de novo MEN 2B.

Y Kitamura1, N Scavarda, S A Wells, C E Jackson, P J Goodfellow.   

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Year:  1995        PMID： 8595427     DOI： 10.1093/hmg/4.10.1987

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  11 in total

Review 1.  Base excision repair, aging and health span.

Authors:  Guogang Xu; Maryanne Herzig; Vladimir Rotrekl; Christi A Walter
Journal:  Mech Ageing Dev       Date:  2008-03-13       Impact factor: 5.432

2.  Identification of a novel variant of the RET proto-oncogene in a novel family with Hirschsprung's disease.

Authors:  Takafumi Kawano; Kazuyoshi Hosomichi; Ituro Inoue; Ryuichi Shimono; Shun Onishi; Kazuhiko Nakame; Tatsuru Kaji; Hiroshi Matsufuji; Satoshi Ieiri
Journal:  Pediatr Surg Int       Date:  2017-08-10       Impact factor: 1.827

Review 3.  Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome).

Authors:  P J Morrison; N C Nevin
Journal:  J Med Genet       Date:  1996-09       Impact factor: 6.318

Review 4.  Multiple endocrine neoplasia type 2.

Authors:  Mariola Peczkowska; Andrzej Januszewicz
Journal:  Fam Cancer       Date:  2005       Impact factor: 2.375

5.  Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia.

Authors:  Anne Goriely; Gilean A T McVean; Ans M M van Pelt; Anthony W O'Rourke; Steven A Wall; Dirk G de Rooij; Andrew O M Wilkie
Journal:  Proc Natl Acad Sci U S A       Date:  2005-04-19       Impact factor: 11.205

6.  Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma. Le Groupe d'Etude des Tumeurs a Calcitonine.

Authors:  I Schuffenecker; N Ginet; D Goldgar; C Eng; B Chambe; A Boneu; C Houdent; D Pallo; M Schlumberger; C Thivolet; G M Lenoir
Journal:  Am J Hum Genet       Date:  1997-01       Impact factor: 11.025

Review 7.  Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease.

Authors:  Anne Goriely; Andrew O M Wilkie
Journal:  Am J Hum Genet       Date:  2012-02-10       Impact factor: 11.025

8.  Orolabial signs are important clues for diagnosis of the rare endocrine syndrome MEN 2B. Presentation of two unrelated cases.

Authors:  Agnes Sallai; Eva Hosszú; Péter Gergics; Károly Rácz; György Fekete
Journal:  Eur J Pediatr       Date:  2007-06-19       Impact factor: 3.183

9.  The newly detected mutations in the RET proto-oncogene in exon 16 as a cause of sporadic medullary thyroid carcinoma.

Authors:  S Jindrichova; R Kodet; L Krskova; P Vlcek; B Bendlova
Journal:  J Mol Med (Berl)       Date:  2003-11-15       Impact factor: 4.599

10.  Rapid diagnosis of MEN2B using unlabeled probe melting analysis and the LightCycler 480 instrument.

Authors:  Rebecca L Margraf; Rong Mao; Carl T Wittwer
Journal:  J Mol Diagn       Date:  2008-02-07       Impact factor: 5.568
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