Periventricular nodular heterotopia in Smith-Magenis syndrome-Reference-Cited by-同舟云学术

Periventricular nodular heterotopia in Smith-Magenis syndrome

Published:2014-09-24 Issue:12 Volume:164 Page:3142-3147
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Capra Valeria¹,Biancheri Roberta²,Morana Giovanni³,Striano Pasquale⁴^ORCID,Novara Francesca⁵,Ferrero Giovanni Battista⁶,Boeri Luca²,Celle Maria Elena²,Mancardi Maria Margherita²,Zuffardi Orsetta⁵⁷,Parrini Elena⁸,Guerrini Renzo⁸⁹

Affiliation:

1. Neurosurgery Unit; Istituto Giannina Gaslini; 16147 Genova Genoa Italy

2. Child Neurology and Psychiatry Unit; Istituto Giannina Gaslini; 16147 Genova Genoa Italy

3. Neuroradiology Unit; Istituto Giannina Gaslini; 16147 Genova Genoa Italy

4. Paediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health; University of Genoa; Istituto Giannina Gaslini; 16147 Genov Genoa Italy

5. Department of Molecular Medicine; University of Pavia; Pavia Italy

6. Department of Pediatrics; University of Torino, Regina Margherita Children Hospital; Torino Italy

7. Neurological Clinic; IRCCS C. Mondino; Pavia Italy

8. Pediatric Neurology Unit and Laboratories; Children's Hospital A. Meyer-University of Florence; Florence Italy

9. IRCCS Stella Maris Foundation; Pisa Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36742/fullpdf

Reference33 articles.

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2. Anatomical and functional brain imaging evidence of lenticulo-insular anomalies in Smith Magenis syndrome;Boddaert;Neuroimage,2004

3. Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion;Cardoso;Neurology,2009

4. Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis syndrome;Carmona-Mora;BMC Mol Biol,2010

5. RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome;Carmona-Mora;PLoS One,2012

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