Literature DB >> 16354942

Overview of Smith-Magenis syndrome.

Ann C M Smith1, R Ellen Magenis, Sarah H Elsea.   

Abstract

Increased awareness of the phenotype associated with SMS permits early diagnosis and optimal management and intervention. From a management standpoint, the unique constellation of behavioral dysfunction and sleep disturbances has a significant impact on the parents, siblings and relatives of individuals with SMS as well as the professionals involved in their care. Support groups for families of persons with SMS like PRISMS in the US [http://www.prisms.org], provide families with up-to-date information, as well as emotional and peer support, enabling them to better care for their child.

Entities:  

Year:  2005        PMID： 16354942

Source DB:  PubMed          Journal:  J Assoc Genet Technol        ISSN： 1523-7834


  9 in total

1.  Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior.

Authors:  Paulina Carmona-Mora; Katherina Walz
Journal:  Curr Genomics       Date:  2010-12       Impact factor: 2.236

2.  Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.

Authors:  Gustavo H Vieira; Jayson D Rodriguez; Paulina Carmona-Mora; Lei Cao; Bruno F Gamba; Daniel R Carvalho; Andréa de Rezende Duarte; Suely R Santos; Deise H de Souza; Barbara R DuPont; Katherina Walz; Danilo Moretti-Ferreira; Anand K Srivastava
Journal:  Eur J Hum Genet       Date:  2011-09-07       Impact factor: 4.246

3.  Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions.

Authors:  J Andrieux; C Villenet; S Quief; S Lignon; S Geffroy; C Roumier; H de Leersnyder; M-C de Blois; S Manouvrier; B Delobel; B Benzacken; P Bitoun; T Attie-Bitach; S Thomas; S Lyonnet; M Vekemans; J-P Kerckaert
Journal:  J Med Genet       Date:  2007-04-27       Impact factor: 6.318

Review 4.  Neurodevelopmental Disorders Commonly Presenting with Sleep Disturbances.

Authors:  Althea Robinson Shelton; Beth Malow
Journal:  Neurotherapeutics       Date:  2021-01-05       Impact factor: 7.620

5.  Genomic sister-disorders of neurodevelopment: an evolutionary approach.

Authors:  Bernard Crespi; Kyle Summers; Steve Dorus
Journal:  Evol Appl       Date:  2009-01-07       Impact factor: 5.183

Review 6.  RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.

Authors:  Mariateresa Falco; Sonia Amabile; Fabio Acquaviva
Journal:  Appl Clin Genet       Date:  2017-11-03

7.  A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation.

Authors:  Clemer Abad; Melissa M Cook; Lei Cao; Julie R Jones; Nalini R Rao; Lynn Dukes-Rimsky; Rini Pauly; Cindy Skinner; Yunsheng Wang; Feng Luo; Roger E Stevenson; Katherina Walz; Anand K Srivastava
Journal:  Biology (Basel)       Date:  2018-05-24

Review 8.  Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders.

Authors:  Berardo Rinaldi; Roberta Villa; Alessandra Sironi; Livia Garavelli; Palma Finelli; Maria Francesca Bedeschi
Journal:  Genes (Basel)       Date:  2022-02-11       Impact factor: 4.096

9.  Tasimelteon safely and effectively improves sleep in Smith-Magenis syndrome: a double-blind randomized trial followed by an open-label extension.

Authors:  Christos M Polymeropoulos; Justin Brooks; Emily L Czeisler; Michaela A Fisher; Mary M Gibson; Kailey Kite; Sandra P Smieszek; Changfu Xiao; Sarah H Elsea; Gunther Birznieks; Mihael H Polymeropoulos
Journal:  Genet Med       Date:  2021-07-27       Impact factor: 8.822
  9 in total

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