Diagnostic yield of microarrays in individuals with non‐syndromic developmental delay and intellectual disability-Reference-Cited by-同舟云学术

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Diagnostic yield of microarrays in individuals with non‐syndromic developmental delay and intellectual disability

Published:2021-10-18 Issue:12 Volume:65 Page:1033-1048
ISSN:0964-2633
Container-title:Journal of Intellectual Disability Research
language:en
Short-container-title:Journal of Intellectual Disability Research

Author:

Oğuz S.¹^ORCID,Arslan U. E.²,Kiper P. Ö. Ş.³,Alikaşifoğlu M.¹³,Boduroğlu K.¹³,Utine G. E.³^ORCID

Affiliation:

1. Department of Medical Genetics, Faculty of Medicine Hacettepe University Ankara Turkey

2. Department of Health Research Public Health Institute Ankara Turkey

3. Department of Pediatrics, Department of Pediatric Genetics, Faculty of Medicine Hacettepe University Faculty of Medicine Ankara Turkey

Publisher

Wiley

Subject

Psychiatry and Mental health,Neurology (clinical),Neurology,Arts and Humanities (miscellaneous),Rehabilitation

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jir.12892

Reference42 articles.

1. Xq28 duplication overlapping theint22h-1/int22h-2region and includingRAB39BandCLIC2in a family with intellectual and developmental disability

2. Expanding the phenotype associated with 17q12 duplication: Case report and review of the literature

3. Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay

4. Phenotypic features in patients with 15q11.2(BP1-BP2) deletion: Further delineation of an emerging syndrome

5. Prenatal detection of 5q14.3 duplication includingMEF2Cand brain phenotype

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1. The diagnostic yield of genetic and metabolic investigations in syndromic and nonsyndromic patients with autism spectrum disorder, global developmental delay, or intellectual disability from a dedicated neurodevelopmental disorders genetics clinic;American Journal of Medical Genetics Part A;2024-06-20

2. A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD;Scientific Reports;2024-02-14

3. A Cohort Study of Individuals with Neurodevelopmental Disorders and/or Congenital Anomalies Investigated by High- Resolution Chromosomal Microarrays in Southern Brazil: The Significance of Autism Spectrum Disorder;2023-11-14

4. Novel maternal duplication of 6p22.3-p25.3 with subtelomeric 6p25.3 deletion: new clinical findings and genotype–phenotype correlations;Molecular Cytogenetics;2023-06-11

5. Genome-Wide Sequencing Modalities for Children with Unexplained Global Developmental Delay and Intellectual Disabilities—A Narrative Review;Children;2023-03-03

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