Literature DB >> 11732489

Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET.

L Kasprzak, S Nolet, L Gaboury, C Pavia, C Villabona, F Rivera-Fillat, J Oriola, W D Foulkes.   

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Year:  2001        PMID： 11732489      PMCID： PMC1734769          DOI： 10.1136/jmg.38.11.784

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  14 in total

Review 1.  Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.

Authors:  Samuel A Wells; Sylvia L Asa; Henning Dralle; Rossella Elisei; Douglas B Evans; Robert F Gagel; Nancy Lee; Andreas Machens; Jeffrey F Moley; Furio Pacini; Friedhelm Raue; Karin Frank-Raue; Bruce Robinson; M Sara Rosenthal; Massimo Santoro; Martin Schlumberger; Manisha Shah; Steven G Waguespack
Journal:  Thyroid       Date:  2015-06       Impact factor: 6.568

Review 2.  Multiple endocrine neoplasia type 2.

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

Review 3.  Pheochromocytoma-associated syndromes: genes, proteins and functions of RET, VHL and SDHx.

Authors:  O Gimm
Journal:  Fam Cancer       Date:  2005       Impact factor: 2.375

Review 4.  Molecular pathogenesis of MEN2-associated tumors.

Authors:  Christian A Koch
Journal:  Fam Cancer       Date:  2005       Impact factor: 2.375

5.  Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity.

Authors:  Kamron Khan; Ahmed Al-Maskari; Martin McKibbin; Ian M Carr; Adam Booth; Moin Mohamed; Salina Siddiqui; James A Poulter; David A Parry; Clara V Logan; Anwar Hashmi; Tehseen Sahi; Hussain Jafri; Yasmin Raashid; Colin A Johnson; Alex F Markham; Carmel Toomes; Aine Rice; Eamonn Sheridan; Chris F Inglehearn; Manir Ali
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-06-16       Impact factor: 4.799

Review 6.  Multiple endocrine neoplasia 2B syndrome due to codon 918 mutation: clinical manifestation and course in early and late onset disease.

Authors:  Michael Brauckhoff; Oliver Gimm; Carl-Ludwig Weiss; Jörg Ukkat; Carsten Sekulla; Katrin Brauckhoff; Phuong Nguyen Thanh; Henning Dralle
Journal:  World J Surg       Date:  2004-11-04       Impact factor: 3.352

7.  Timing and extent of surgery in patients with familial medullary thyroid carcinoma/multiple endocrine neoplasia 2A-related RET mutations not affecting codon 634.

Authors:  Oliver Gimm; Jörg Ukkat; Barbara E Niederle; Theresa Weber; Phuong Nguyen Thanh; Michael Brauckhoff; Bruno Niederle; Henning Dralle
Journal:  World J Surg       Date:  2004-11-04       Impact factor: 3.352

Review 8.  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

9.  Tandem Germline RET Mutations in a Family Pathogenetic for Multiple Endocrine Neoplasia 2B, Confirmed by a Natural Experiment.

Authors:  Minoru Kihara; Akira Miyauchi; Hiroshi Yoshida; Osamu Yamada; Hiroo Masuoka; Tomonori Yabuta; Takuya Higashiyama; Mitsuhiro Fukushima; Yasuhiro Ito; Kaoru Kobayashi; Akihiro Miya
Journal:  Eur Thyroid J       Date:  2014-12-03

10.  The optimal range of RET mutations to be tested: European comments to the guidelines of the American Thyroid Association.

Authors:  Laura Fugazzola; Simone De Leo; Michela Perrino
Journal:  Thyroid Res       Date:  2013-03-14
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