Associated Papers
Clinical analysis of Gabriele-de Vries caused by YY1 mutations and literature review.
Yang J et al.
Molecular Genetics & Genomic Medicine, 2024
A de novo YY1 missense variant expanding the Gabriele-de Vries syndrome phenotype and affecting X-chromosome inactivation.
Dos Santos SR et al.
Metabolic Brain Disease, 2022
Clinical features of patients with Yin Yang 1 deficiency causing Gabriele-de Vries syndrome: A new case and review of the literature.
Khamirani HJ et al.
Annals of Human Genetics, 2022
A 9-month-old Chinese patient with Gabriele-de Vries syndrome due to novel germline mutation in the YY1 gene.
Tan L et al.
Molecular Genetics & Genomic Medicine, 2021
The effect of D380Y pathogenic mutation in human Yin Yang 1 on the protein's structure and function.
Figiel M et al.
Acta Biochimica Polonica, 2020
A case of YY1-associated syndromic learning disability or Gabriele-de Vries syndrome with myasthenia gravis.
Morales-Rosado JA et al.
American Journal of Medical Genetics. Part A, 2018
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Gabriele M et al.
American Journal of Human Genetics, 2017
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