PMC Articles for MedGen (Select 1375401) - PMC

Select item 80770901.

A 9‐month‐old Chinese patient with Gabriele‐de Vries syndrome due to novel germline mutation in the YY1 gene

Li Tan, Ying Li, Fan Liu, Yufeng Huang, Sukun Luo, Peiwei Zhao, Weiyue Gu, Jun Lin, Aifen Zhou, Xuelian He

Mol Genet Genomic Med. 2021 Feb; 9(2): e1582. Published online 2020 Dec 23. doi: 10.1002/mgg3.1582

PMCID:: PMC8077090

Select item 108887842.

YY1 mutations disrupt corticogenesis through a cell-type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programs

Marlene F. Pereira, Veronica Finazzi, Ludovico Rizzuti, Davide Aprile, Vittorio Aiello, Luca Mollica, Matteo Riva, Chiara Soriani, Francesco Dossena, Reinald Shyti, Davide Castaldi, Erika Tenderini, Maria Teresa Carminho-Rodrigues, Julien F. Bally, Bert B.A. de Vries, Michele Gabriele, Alessandro Vitriolo, Giuseppe Testa

Version 2. bioRxiv. Preprint. 2024 Feb 17. doi: 10.1101/2024.02.16.580337

PMCID:: PMC10888784

Abstract Article PDF–4.6M

Select item 107674173.

Clinical analysis of Gabriele‐de Vries caused by YY1 mutations and literature review

Jingjing Yang, Chaonan Yu, Nan Lyn, Lei Liu, Dongxiao Li, Qing Shang

Mol Genet Genomic Med. 2024 Jan; 12(1): e2281. Published online 2023 Sep 1. doi: 10.1002/mgg3.2281

PMCID:: PMC10767417

Abstract Article PDF–2.7M

Select item 101367064.

First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism

Nenad Koruga, Silvija Pušeljić, Marko Babić, Mario Ćuk, Andrea Cvitković Roić, Vjenceslav Vrtarić, Anamarija Soldo Koruga, Alen Rončević, Višnja Tomac, Tatjana Rotim, Tajana Turk, Domagoj Kretić, Nora Pušeljić, Rebeka Nađ, Ivana Serdarušić

Children (Basel) 2023 Apr; 10(4): 623. Published online 2023 Mar 26. doi: 10.3390/children10040623

PMCID:: PMC10136706

Abstract Article PDF–1.5M

Select item 65225355.

Yin Yang 1 sustains biosynthetic demands during brain development in a stage-specific manner

Luis Zurkirchen, Sandra Varum, Sonja Giger, Annika Klug, Jessica Häusel, Raphaël Bossart, Martina Zemke, Claudio Cantù, Zeynep Kalender Atak, Nicola Zamboni, Konrad Basler, Lukas Sommer

Nat Commun. 2019; 10: 2192. Published online 2019 May 16. doi: 10.1038/s41467-019-09823-5

PMCID:: PMC6522535

Abstract Article PDF–7.1M

Select item 54737336.

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

Michele Gabriele, Anneke T. Vulto-van Silfhout, Pierre-Luc Germain, Alessandro Vitriolo, Raman Kumar, Evelyn Douglas, Eric Haan, Kenjiro Kosaki, Toshiki Takenouchi, Anita Rauch, Katharina Steindl, Eirik Frengen, Doriana Misceo, Christeen Ramane J. Pedurupillay, Petter Stromme, Jill A. Rosenfeld, Yunru Shao, William J. Craigen, Christian P. Schaaf, David Rodriguez-Buritica, Laura Farach, Jennifer Friedman, Perla Thulin, Scott D. McLean, Kimberly M. Nugent, Jenny Morton, Jillian Nicholl, Joris Andrieux, Asbjørg Stray-Pedersen, Pascal Chambon, Sophie Patrier, Sally A. Lynch, Susanne Kjaergaard, Pernille M. Tørring, Charlotte Brasch-Andersen, Anne Ronan, Arie van Haeringen, Peter J. Anderson, Zöe Powis, Han G. Brunner, Rolph Pfundt, Janneke H.M. Schuurs-Hoeijmakers, Bregje W.M. van Bon, Stefan Lelieveld, Christian Gilissen, Willy M. Nillesen, Lisenka E.L.M. Vissers, Jozef Gecz, David A. Koolen, Giuseppe Testa, Bert B.A. de Vries

Am J Hum Genet. 2017 Jun 1; 100(6): 907–925. Published online 2017 Jun 1. doi: 10.1016/j.ajhg.2017.05.006

PMCID:: PMC5473733

Abstract Article PDF–3.5M

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