DNA methylation episignature in Gabriele-de Vries syndrome-Reference-Cited by-同舟云学术

DNA methylation episignature in Gabriele-de Vries syndrome

Published:2022-04 Issue:4 Volume:24 Page:905-914
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Cherik Florian,Reilly Jack,Kerkhof Jennifer,Levy Michael,McConkey Haley,Barat-Houari Mouna,Butler Kameryn M.,Coubes Christine,Lee Jennifer A.,Le Guyader Gwenael,Louie Raymond J.,Patterson Wesley G.,Tedder Matthew L.,Bak Mads,Hammer Trine Bjørg,Craigen William,Démurger Florence,Dubourg Christèle,Fradin Mélanie,Franciskovich Rachel,Frengen Eirik,Friedman Jennifer,Palares Nathalie Ruiz,Iascone Maria,Misceo Doriana,Monin Pauline,Odent Sylvie,Philippe Christophe,Rouxel Flavien,Saletti Veronica,Strømme Petter,Thulin Perla Cassayre,Sadikovic Bekim,Genevieve David

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference33 articles.

1. YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction;Gabriele;Am J Hum Genet,2017

2. A case of YY1-associated syndromic learning disability or Gabriele-de Vries syndrome with myasthenia gravis;Morales-Rosado;Am J Med Genet A,2018

3. Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome);Carminho-Rodrigues;Am J Med Genet A,2020

5. A 9-month-old Chinese patient with Gabriele-de Vries syndrome due to novel germline mutation in the YY1 gene;Tan;Mol Genet Genomic Med,2021

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1. Adult-onset YY1-associated combined dystonia syndrome with infantile nystagmus as a diagnostic clue;Parkinsonism & Related Disorders;2024-07

2. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders;European Journal of Human Genetics;2023-10-23

3. Clinical analysis of Gabriele‐de Vries caused by YY1 mutations and literature review;Molecular Genetics & Genomic Medicine;2023-09

4. Congenital hypotonia: systematic approach for prenatal detection;Ultrasound in Obstetrics & Gynecology;2023-06-30

5. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders;2023-05-24