Literature DB >> 19547830

Oculocerebrorenal syndrome of Lowe: magnetic resonance imaging findings in the first six years of life.

Arnolfo de Carvalho-Neto1, Sergio Eiji Ono, Georgina de Melo Cardoso, Mara Lucia Schmitz Ferreira Santos, Izabela Celidonio.   

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Year:  2009        PMID: 19547830     DOI: 10.1590/s0004-282x2009000200027

Source DB:  PubMed          Journal:  Arq Neuropsiquiatr        ISSN: 0004-282X            Impact factor:   1.420


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  5 in total

1.  Bannayan-Riley-Ruvalcaba syndrome: MRI neuroimaging features in a series of 7 patients.

Authors:  R Bhargava; K J Au Yong; N Leonard
Journal:  AJNR Am J Neuroradiol       Date:  2013-08-01       Impact factor: 3.825

2.  Neuroimaging and renal ultrasound manifestations of Oculocerebrorenal syndrome of Lowe.

Authors:  Andrew Mark Allmendinger; Naman S Desai; Alanna Teatom Burke; Narayan Viswanadhan; Sanjay Prabhu
Journal:  J Radiol Case Rep       Date:  2014-10-31

3.  Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

Authors:  Adeline Vanderver; Davide Tonduti; Ilana Kahn; Johanna Schmidt; Livija Medne; Jodie Vento; Kimberly A Chapman; Brendan Lanpher; Phillip Pearl; Andrea Gropman; Charles Lourenco; John-Steven Bamforth; Cynthia Sharpe; Mercédes Pineda; Jens Schallner; Olaf Bodamer; Simona Orcesi; Saskia A J Lesnik Oberstein; Erik A Sistermans; Helger G Yntema; Carsten Bonnemann; Amy T Waldman; Marjo S van der Knaap
Journal:  Am J Med Genet A       Date:  2013-12-20       Impact factor: 2.802

4.  Impaired neural development in a zebrafish model for Lowe syndrome.

Authors:  Irene Barinaga-Rementeria Ramirez; Grzegorz Pietka; David R Jones; Nullin Divecha; A Alia; Scott C Baraban; Adam F L Hurlstone; Martin Lowe
Journal:  Hum Mol Genet       Date:  2011-12-30       Impact factor: 6.150

5.  Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL.

Authors:  Maria Giovanna De Leo; Leopoldo Staiano; Mariella Vicinanza; Alessandro Luciani; Annamaria Carissimo; Margherita Mutarelli; Antonella Di Campli; Elena Polishchuk; Giuseppe Di Tullio; Valentina Morra; Elena Levtchenko; Francesca Oltrabella; Tobias Starborg; Michele Santoro; Diego Di Bernardo; Olivier Devuyst; Martin Lowe; Diego L Medina; Andrea Ballabio; Maria Antonietta De Matteis
Journal:  Nat Cell Biol       Date:  2016-07-11       Impact factor: 28.824

  5 in total

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