Literature DB >> 11106270

Genetics of mental retardation.

P Chiurazzi1, B A Oostra.   

Abstract

Aim of this review is to present the latest advances in the identification of the genetic determinants of intellectual deficiency. Mental retardation (MR) is often associated with other neurologic symptoms, metabolic disorders, or malformation syndromes. The purpose of the review is to subdivide the large field of MR into categories that may help professionals in making a diagnosis. Nonspecific MR can also segregate in families and the mapping and cloning of corresponding mutant genes will eventually advance our understanding of normal and abnormal brain functioning. Several genes responsible for nonspecific X-linked mental retardation have been identified in the last 12 to 24 months and are being intensively investigated. This will hopefully lead to new possibilities of either genetic or pharmacological therapy.

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Year:  2000        PMID: 11106270     DOI: 10.1097/00008480-200012000-00003

Source DB:  PubMed          Journal:  Curr Opin Pediatr        ISSN: 1040-8703            Impact factor:   2.856


  5 in total

1.  δ-Catenin Regulates Spine Architecture via Cadherin and PDZ-dependent Interactions.

Authors:  Li Yuan; Eunju Seong; James L Beuscher; Jyothi Arikkath
Journal:  J Biol Chem       Date:  2015-02-27       Impact factor: 5.157

2.  A rational approach to the child with mental retardation for the paediatrician.

Authors:  Jean-François Lemay; Anthony R Herbert; Deborah M Dewey; A Micheil Innes
Journal:  Paediatr Child Health       Date:  2003-07       Impact factor: 2.253

Review 3.  Advances in understanding - genetic basis of intellectual disability.

Authors:  Pietro Chiurazzi; Filomena Pirozzi
Journal:  F1000Res       Date:  2016-04-07

4.  American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation.

Authors:  Lisa G Shaffer
Journal:  Genet Med       Date:  2005 Nov-Dec       Impact factor: 8.822

5.  A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES).

Authors:  Emanuela Leonardi; Mariagrazia Bellini; Maria C Aspromonte; Roberta Polli; Anna Mercante; Claudia Ciaccio; Elisa Granocchio; Elisa Bettella; Ilaria Donati; Elisa Cainelli; Stefania Boni; Stefano Sartori; Chiara Pantaleoni; Clementina Boniver; Alessandra Murgia
Journal:  Genes (Basel)       Date:  2020-03-24       Impact factor: 4.096

  5 in total

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