Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders-Reference-Cited by-同舟云学术

Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders

Published:2021-05-12 Issue:12 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Kokkonen Hannaleena¹^ORCID,Siren Auli²,Määttä Tuomo³,Kamila Kadlubowska Magda⁴,Acharya Anushree⁴^ORCID,Nouel‐Saied Liz M.⁴,Leal Suzanne M.⁴⁵^ORCID,Järvelä Irma⁶^ORCID,Schrauwen Isabelle⁴^ORCID

Affiliation:

1. Northern Finland Laboratory Centre NordLab and Medical Research Centre Oulu University Hospital and University of Oulu Oulu Finland

2. Kanta‐Häme Central Hospital Hämeenlinna Finland

3. Disability Services Joint Authority for Kainuu Kajaani Finland

4. Center for Statistical Genetics Sergievsky Center Department of Neurology Columbia University Medical Center New York NY USA

5. Taub Institute for Alzheimer's Disease and the Aging BrainColumbia University Medical Center New York NY USA

6. Department of Medical Genetics University of Helsinki Helsinki Finland

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1703

Reference21 articles.

1. Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1

2. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

3. Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis

4. A novel X-linked disorder with developmental delay and autistic features

5. Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement

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