Literature DB >> 17366582

Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes.

Anna Sarkozy1, Annalisa Schirinzi, Francesca Lepri, Irene Bottillo, Alessandro De Luca, Antonio Pizzuti, Marco Tartaglia, Maria Cristina Digilio, Bruno Dallapiccola.   

Abstract

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Year:  2007        PMID： 17366582     DOI： 10.1002/ajmg.a.31666

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  3 in total

1.  LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria.

Authors:  Atilano Carcavilla; Isabel Pinto; Rafael Muñoz-Pacheco; Raquel Barrio; Maria Martin-Frías; Begoña Ezquieta
Journal:  Eur J Pediatr       Date:  2011-03-02       Impact factor: 3.183

Review 2.  On the value of homogeneous constructs for construct validation, theory testing, and the description of psychopathology.

Authors:  Gregory T Smith; Denis M McCarthy; Tamika C B Zapolski
Journal:  Psychol Assess       Date:  2009-09

Review 3.  Leopard syndrome.

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

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