Literature DB >> 29196358

A clinical approach to developmental delay and intellectual disability.

Pradeep Vasudevan1, Mohnish Suri2.   

Abstract

Global developmental delay and intellectual disability are phenotypically and genetically heterogeneous and a specific diagnosis is not reached in many cases. This paper outlines a systematic approach to global developmental delay and intellectual disability. © Royal College of Physicians 2017. All rights reserved.

Entities:  

Keywords:  Chromosomal micro-array; WES; WGS; clinical exome; global developmental delay; intellectual diasbility; learning disability

Mesh：

Year:  2017        PMID： 29196358      PMCID： PMC6297696          DOI： 10.7861/clinmedicine.17-6-558

Source DB:  PubMed          Journal:  Clin Med (Lond)        ISSN： 1470-2118            Impact factor:   2.659


  5 in total

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Review 2.  Genetic studies in intellectual disability and related disorders.

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Review 3.  Comprehensive evaluation of the child with intellectual disability or global developmental delays.

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Review 4.  Genetics and the investigation of developmental delay/intellectual disability.

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5.  Prevalence and architecture of de novo mutations in developmental disorders.

Authors: 
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1.  Genome-Wide Array Analysis Reveals Novel Genomic Regions and Candidate Gene for Intellectual Disability.

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6.  Exome Sequencing in Children.

Authors:  Elisa A Mahler; Jessika Johannsen; Konstantinos Tsiakas; Katja Kloth; Sabine Lüttgen; Chris Mühlhausen; Bader Alhaddad; Tobias B Haack; Tim M Strom; Fanny Kortüm; Thomas Meitinger; Ania C Muntau; René Santer; Christian Kubisch; Davor Lessel; Jonas Denecke; Maja Hempel
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7.  Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability.

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Journal:  Clin Exp Pediatr       Date:  2019-11-04

8.  Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay.

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9.  First Chinese patient with mental retardation-40 due to a de novo CHAMP1 frameshift mutation: Case report and literature review.

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10.  KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.

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Journal:  Hum Mol Genet       Date:  2021-11-16       Impact factor: 5.121
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