PMC Articles for MedGen (Select 934655) - PMC

Select item 108628971.

Chromatin remodeling protein CHD4 regulates axon guidance of spiral ganglion neurons in developing cochlea

Jihyun Kim, Edward Martinez, Jingyun Qiu, Julie Zhouli Ni, Kelvin Y. Kwan

Version 1. bioRxiv. Preprint. 2024 Feb 1. doi: 10.1101/2024.01.31.578202

PMCID:: PMC10862897

Select item 105072462.

Case report: Diagnosis of a patient with Sifrim–Hitz–Weiss syndrome, development and epileptic encephalopathy-14, and medium chain acyl-CoA dehydrogenase deficiency

Naim Zeka, Eris Zeka, Esra Zhubi, Ilir Hoxha

Front Pediatr. 2023; 11: 1230056. Published online 2023 Sep 4. doi: 10.3389/fped.2023.1230056

PMCID:: PMC10507246

Abstract Article PDF–12M

Select item 102629013.

Sifrim–Hitz‐Weiss/CHD4‐related syndrome: A new case report

Beibei Zhang, Ming Cheng, Lijun Fan, Chunxiu Gong

Pediatr Investig. 2023 Jun; 7(2): 137–139. Published online 2023 Jan 4. doi: 10.1002/ped4.12357

PMCID:: PMC10262901

Article PDF–103K

Select item 98553994.

A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1)

Jorge Diogo Da Silva, Natália Oliva-Teles, Nataliya Tkachenko, Joana Fino, Mariana Marques, Ana Maria Fortuna, Dezso David

Biomedicines. 2023 Jan; 11(1): 12. Published online 2022 Dec 21. doi: 10.3390/biomedicines11010012

PMCID:: PMC9855399

Abstract Article PDF–1.2M

Select item 89008275.

Karin Weiss, Hayley P. Lazar, Alina Kurolap, Ariel Martinez, Tamar Paperna, Lior Cohen, Marie F. Smeland, Sandra Wallen, Solveig Heide, Boris Keren, Pauline Terhal, Melita Irving, Motoki Takaku, John D. Roberts, Robert M. Petrovich, Samantha A. Schrier Vergano, Amy Kenney, Hanne Hove, Elizabeth DeChene, Shane C. Quinonez, Estelle Colin, Alban Ziegler, Melissa Rumple, Mahim Jain, Danielle Monteil, Elizabeth R. Roeder, Kimberly Nugent, Arie van Haeringen, Michael Gambello, Avni Santani, Līvija Medne, Bryan Krock, Cara M. Skraban, Elaine H. Zackai, Holly A. Dubbs, Thomas Smol, Jamal Ghoumid, Michael J. Parker, Michael Wright, Peter Turnpenny, Jill Clayton-Smith, Kay Metcalfe, Hitoshi Kurumizaka, Bruce D. Gelb, Hagit Baris Feldman, Philippe M. Campeau, Maximilian Muenke, Paul A. Wade, Katherine Lachlan

Genet Med. Author manuscript; available in PMC 2022 Mar 7.

Published in final edited form as: Genet Med. 2020 Feb; 22(2): 389–397. Published online 2019 Aug 7. doi: 10.1038/s41436-019-0612-0

Correction in:: Genet Med. 2019 Dec 17

PMCID:: PMC8900827

Abstract Article PDF–1.5M

Select item 73380496.

Nucleosome-CHD4 chromatin remodeler structure maps human disease mutations

Lucas Farnung, Moritz Ochmann, Patrick Cramer

eLife. 2020; 9: e56178. Published online 2020 Jun 16. doi: 10.7554/eLife.56178

PMCID:: PMC7338049

Abstract Article PDF–4.9M

Select item 103420007.

Generation of a Well-Characterized Homozygous Chromodomain-Helicase-DNA-Binding Protein 4^G1003D Mutant hESC Line Using CRISPR/eCas9 (ULIEGEe001-A-1)

Ilyas Chohra, Subhajit Giri, Brigitte Malgrange

Int J Mol Sci. 2023 Jul; 24(13): 10543. Published online 2023 Jun 23. doi: 10.3390/ijms241310543

PMCID:: PMC10342000

Abstract Article PDF–1.1M

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