PMC Links for OMIM (Select 608433) - PMC

Select item 60144781.

Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene

Vyne van der Schoot, Sonja de Munnik, Hanka Venselaar, Mariet Elting, Grazia M. S. Mancini, Conny M. A. Ravenswaaij‐Arts, Britt‐Marie Anderlid, Han G. Brunner, Servi J. C. Stevens

Mol Genet Genomic Med. 2018 May; 6(3): 393–400. Published online 2018 Mar 24. doi: 10.1002/mgg3.387

PMCID:: PMC6014478

Abstract Article PDF–1.2M

Select item 53608442.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Christel Depienne, Caroline Nava, Boris Keren, Solveig Heide, Agnès Rastetter, Sandrine Passemard, Sandra Chantot-Bastaraud, Marie-Laure Moutard, Pankaj B. Agrawal, Grace VanNoy, Joan M. Stoler, David J. Amor, Thierry Billette de Villemeur, Diane Doummar, Caroline Alby, Valérie Cormier-Daire, Catherine Garel, Pauline Marzin, Sophie Scheidecker, Anne de Saint-Martin, Edouard Hirsch, Christian Korff, Armand Bottani, Laurence Faivre, Alain Verloes, Christine Orzechowski, Lydie Burglen, Bruno Leheup, Joelle Roume, Joris Andrieux, Frenny Sheth, Chaitanya Datar, Michael J. Parker, Laurent Pasquier, Sylvie Odent, Sophie Naudion, Marie-Ange Delrue, Cédric Le Caignec, Marie Vincent, Bertrand Isidor, Florence Renaldo, Fiona Stewart, Annick Toutain, Udo Koehler, Birgit Häckl, Celina von Stülpnagel, Gerhard Kluger, Rikke S. Møller, Deb Pal, Tord Jonson, Maria Soller, Nienke E. Verbeek, Mieke M. van Haelst, Carolien de Kovel, Bobby Koeleman, Glen Monroe, Gijs van Haaften, DDD Study, Tania Attié-Bitach, Lucile Boutaud, Delphine Héron, Cyril Mignot

Hum Genet. 2017; 136(4): 463–479. Published online 2017 Mar 10. doi: 10.1007/s00439-017-1772-0

PMCID:: PMC5360844

Abstract Article PDF–2.3M

Select item 40232233.

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

Sonja A de Munnik, Sixto García-Miñaúr, Alexander Hoischen, Bregje W van Bon, Kym M Boycott, Jeroen Schoots, Lies H Hoefsloot, Nine VAM Knoers, Ernie MHF Bongers, Han G Brunner

Eur J Hum Genet. 2014 Jun; 22(6): 844–846. Published online 2013 Nov 6. doi: 10.1038/ejhg.2013.249

PMCID:: PMC4023223

Abstract Article PDF–303K

Select item 33079854.

RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion

C Xiang, V Baubet, S Pal, L Holderbaum, V Tatard, P Jiang, R V Davuluri, N Dahmane

Cell Death Differ. 2012 Apr; 19(4): 692–702. Published online 2011 Nov 18. doi: 10.1038/cdd.2011.144

PMCID:: PMC3307985

Abstract Article PDF–805K

Select item 31101515.

A Systems Approach Reveals that the Myogenesis Genome Network Is Regulated by the Transcriptional Repressor RP58

Shigetoshi Yokoyama, Yoshiaki Ito, Hiroe Ueno-Kudoh, Hirohito Shimizu, Kenta Uchibe, Sonia Albini, Kazuhiko Mitsuoka, Shigeru Miyaki, Minako Kiso, Akane Nagai, Tomohiro Hikata, Tadahiro Osada, Noritsugu Fukuda, Satoshi Yamashita, Daisuke Harada, Valeria Mezzano, Masataka Kasai, Pier Lorenzo Puri, Yoshihide Hayashizaki, Haruo Okado, Megumi Hashimoto, Hiroshi Asahara

Dev Cell. Author manuscript; available in PMC 2011 Jun 7.

Published in final edited form as: Dev Cell. 2009 Dec; 17(6): 836–848. doi: 10.1016/j.devcel.2009.10.011

PMCID:: PMC3110151

Abstract Article PDF–2.0M

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