Induced pluripotent stem cells established from a female patient with Xq22 deletion confirm that BEX2 escapes from X‐chromosome inactivation-Reference-Cited by-同舟云学术

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Induced pluripotent stem cells established from a female patient with Xq22 deletion confirm that BEX2 escapes from X‐chromosome inactivation

Published:2020-12-13 Issue:2 Volume:61 Page:63-67
ISSN:0914-3505
Container-title:Congenital Anomalies
language:en
Short-container-title:Congenit Anom

Author:

Yamamoto‐Shimojima Keiko¹,Osawa Mitsujiro²,Saito Megumu K.²,Yamamoto Toshiyuki¹^ORCID

Affiliation:

1. Institute of Medical Genetics Tokyo Women's Medical genetics Tokyo Japan

2. Department of Clinical Application, Center for iPS Cell Research and Application Kyoto University Kyoto Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cga.12403

Reference21 articles.

1. An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities

2. Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

3. An Xq22.1q22.2 nullisomy in a male patient with severe neurological impairment

4. A novel efficient feeder-free culture system for the derivation of human induced pluripotent stem cells

5. An Efficient Nonviral Method to Generate Integration-Free Human-Induced Pluripotent Stem Cells from Cord Blood and Peripheral Blood Cells

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2. Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia, and seizures;Journal of Human Genetics;2024-08-09

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