Literature DB >> 15173254

A germline mutation in KIT in familial diffuse cutaneous mastocytosis.

X Tang1, M Boxer, A Drummond, P Ogston, M Hodgins, A D Burden.   

Abstract

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Year:  2004        PMID： 15173254      PMCID： PMC1735799          DOI： 10.1136/jmg.2003.015156

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


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  17 in total

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2.  Structure, domain organization, and different conformational states of stem cell factor-induced intact KIT dimers.

Authors:  Yarden Opatowsky; Irit Lax; Francisco Tomé; Franziska Bleichert; Vinzenz M Unger; Joseph Schlessinger
Journal:  Proc Natl Acad Sci U S A       Date:  2014-01-21       Impact factor: 11.205

Review 3.  Familial testicular germ cell tumours.

Authors:  Christian P Kratz; Phuong L Mai; Mark H Greene
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Review 4.  Familial testicular germ cell tumors in adults: 2010 summary of genetic risk factors and clinical phenotype.

Authors:  Mark H Greene; Christian P Kratz; Phuong L Mai; Christine Mueller; June A Peters; Gennady Bratslavsky; Alex Ling; Peter M Choyke; Ahalya Premkumar; Janet Bracci; Rissah J Watkins; Mary Lou McMaster; Larissa A Korde
Journal:  Endocr Relat Cancer       Date:  2010-03-08       Impact factor: 5.678

5.  Mastocytosis associated with a rare germline KIT K509I mutation displays a well-differentiated mast cell phenotype.

Authors:  Eunice Ching Chan; Yun Bai; Arnold S Kirshenbaum; Elizabeth R Fischer; Olga Simakova; Geethani Bandara; Linda M Scott; Laura B Wisch; Daly Cantave; Melody C Carter; John C Lewis; Pierre Noel; Irina Maric; Alasdair M Gilfillan; Dean D Metcalfe; Todd M Wilson
Journal:  J Allergy Clin Immunol       Date:  2014-02-28       Impact factor: 10.793

6.  Beginning of personalized medicine in Panama: Molecular and pathological characteristics of gastrointestinal stromal tumors from archival paraffin-embedded tissue.

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Journal:  Oncol Lett       Date:  2011-07-05       Impact factor: 2.967

7.  Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities.

Authors:  Jonathan J Lyons; Guangping Sun; Kelly D Stone; Celeste Nelson; Laura Wisch; Michelle O'Brien; Nina Jones; Andrew Lindsley; Hirsh D Komarow; Yun Bai; Linda M Scott; Daly Cantave; Irina Maric; J Pablo Abonia; Marc E Rothenberg; Lawrence B Schwartz; Joshua D Milner; Todd M Wilson
Journal:  J Allergy Clin Immunol       Date:  2014-01-25       Impact factor: 10.793

Review 8.  Mastocytosis in Children.

Authors:  Nicholas Klaiber; Santhosh Kumar; Anne-Marie Irani
Journal:  Curr Allergy Asthma Rep       Date:  2017-10-07       Impact factor: 4.806

9.  Profiling cancer gene mutations in clinical formalin-fixed, paraffin-embedded colorectal tumor specimens using targeted next-generation sequencing.

Authors:  Liangxuan Zhang; Liangjing Chen; Sachin Sah; Gary J Latham; Rajesh Patel; Qinghua Song; Hartmut Koeppen; Rachel Tam; Erica Schleifman; Haider Mashhedi; Sreedevi Chalasani; Ling Fu; Teiko Sumiyoshi; Rajiv Raja; William Forrest; Garret M Hampton; Mark R Lackner; Priti Hegde; Shidong Jia
Journal:  Oncologist       Date:  2014-03-24

Review 10.  Pediatric Mastocytosis: Recognition and Management.

Authors:  Julie V Schaffer
Journal:  Am J Clin Dermatol       Date:  2021-03       Impact factor: 7.403
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