Literature DB >> 17927788

Malignant melanoma in a woman with LEOPARD syndrome: identification of a germline PTPN11 mutation and a somatic BRAF mutation.

M Seishima, Y Mizutani, Y Shibuya, C Arakawa, R Yoshida, T Ogata.   

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Year:  2007        PMID： 17927788     DOI： 10.1111/j.1365-2133.2007.08229.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  7 in total

1.  LEOPARD Syndrome: Clinical Features and Gene Mutations.

Authors:  E Martínez-Quintana; F Rodríguez-González
Journal:  Mol Syndromol       Date:  2012-08-29

2.  LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD.

Authors:  Jihyun Kim; Mi Ri Kim; Hee Jung Kim; Kyung-A Lee; Min-Geol Lee
Journal:  Ann Dermatol       Date:  2011-05-27       Impact factor: 1.444

Review 3.  The differential diagnosis of familial lentiginosis syndromes.

Authors:  Maya B Lodish; Constantine A Stratakis
Journal:  Fam Cancer       Date:  2011-09       Impact factor: 2.375

4.  A Novel A461S Mutation of PTPN11 in a Female with LEOPARD Syndrome.

Authors:  Rie Yoshida; Tsutomu Ogata
Journal:  Clin Pediatr Endocrinol       Date:  2008-11-08

5.  Patient with confirmed LEOPARD syndrome developing multiple melanoma.

Authors:  Caroline Colmant; Deborah Franck; Liliane Marot; Gert Matthijs; Yves Sznajer; Sandrine Blomme; Isabelle Tromme
Journal:  Dermatol Pract Concept       Date:  2018-01-31

6.  Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Authors:  Daniela Šimčíková; Petr Heneberg
Journal:  Sci Rep       Date:  2019-12-09       Impact factor: 4.379

Review 7.  Leopard syndrome.

Authors:  Anna Sarkozy; Maria Cristina Digilio; Bruno Dallapiccola
Journal:  Orphanet J Rare Dis       Date:  2008-05-27       Impact factor: 4.123
  7 in total

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