Literature DB >> 11109371

[Polycystic lipomembranous osteodysplasia].

L Tranebjaerg, H Schrader, J Paloneva.   

Abstract

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Mesh：

Year:  2000        PMID： 11109371

Source DB:  PubMed          Journal:  Tidsskr Nor Laegeforen        ISSN： 0029-2001


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  2 in total

1.  Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype.

Authors:  Juha Paloneva; Tuula Manninen; Grant Christman; Karine Hovanes; Jami Mandelin; Rolf Adolfsson; Marino Bianchin; Thomas Bird; Roxana Miranda; Andrea Salmaggi; Lisbeth Tranebjaerg; Yrjö Konttinen; Leena Peltonen
Journal:  Am J Hum Genet       Date:  2002-06-21       Impact factor: 11.025

Review 2.  Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy--PLOSL): a dementia associated with bone cystic lesions. From clinical to genetic and molecular aspects.

Authors:  Marino Muxfeldt Bianchin; Heraldo M Capella; Daniel Loureiro Chaves; Mário Steindel; Edmundo C Grisard; Gerson Gandi Ganev; João Péricles da Silva Júnior; Schaeffer Neto Evaldo; Mônica Aparecida Poffo; Roger Walz; Carlos G Carlotti Júnior; Américo C Sakamoto
Journal:  Cell Mol Neurobiol       Date:  2004-02       Impact factor: 5.046
  2 in total

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