PMC Links for GEO Profiles (Select 65736507) - PMC

Select item 99584471.

In silico studies, X-ray diffraction analysis and biological investigation of fluorinated pyrrolylated-chalcones in zebrafish epilepsy models

Muhammad Syafiq Akmal Mohd Fahmi, Puspanjali Swain, Amirah Hani Ramli, Wan Norhamidah Wan Ibrahim, Nur Atikah Saleh Hodin, Noraini Abu Bakar, Yee Seng Tan, Siti Munirah Mohd Faudzi, Cheol-Hee Kim

Heliyon. 2023 Feb; 9(2): e13685. Published online 2023 Feb 11. doi: 10.1016/j.heliyon.2023.e13685

PMCID:: PMC9958447

Abstract Article PDF–1.5M

Select item 68748992.

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Suzanna G.M. Frints, Friederike Hennig, Roberto Colombo, Sebastien Jacquemont, Paulien Terhal, Holly H. Zimmerman, David Hunt, Bryce A. Mendelsohn, Ulrike Kordaß, Richard Webster, Margje Sinnema, Omar Abdul-Rahman, Vanessa Suckow, Deciphering Developmental Disorders (DDD) Study, Alberto Fernández-Jaén, Kees van Roozendaal, Servi J.C. Stevens, Merryn V.E. Macville, Salwan Al-Nasiry, Koen van Gassen, Norbert Utzig, Suzanne M. Koudijs, Lesley McGregor, Saskia M. Maas, Diana Baralle, Abhijit Dixit, Peter Wieacker, Marcus Lee, Arthur S. Lee, Elizabeth C. Engle, Gunnar Houge, Gyri A. Gradek, Andrew G.L. Douglas, Cheryl Longman, Shelagh Joss, Danita Velasco, Raoul C. Hennekam, Hiromi Hirata, Vera M. Kalscheuer

Hum Mutat. Author manuscript; available in PMC 2020 Dec 1.

Published in final edited form as: Hum Mutat. 2019 Dec; 40(12): 2270–2285. Published online 2019 Aug 21. doi: 10.1002/humu.23841

PMCID:: PMC6874899

Abstract Article PDF–742K

Select item 45274883.

ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons

Melanie May, Kyu-Seok Hwang, Judith Miles, Charlie Williams, Tejasvi Niranjan, Stephen G. Kahler, Pietro Chiurazzi, Katharina Steindl, Peter J. Van Der Spek, Sigrid Swagemakers, Jennifer Mueller, Shannon Stefl, Emil Alexov, Jeong-Im Ryu, Jung-Hwa Choi, Hyun-Taek Kim, Patrick Tarpey, Giovanni Neri, Lynda Holloway, Cindy Skinner, Roger E. Stevenson, Richard I. Dorsky, Tao Wang, Charles E. Schwartz, Cheol-Hee Kim

Hum Mol Genet. 2015 Sep 1; 24(17): 4848–4861. Published online 2015 Jun 8. doi: 10.1093/hmg/ddv208

PMCID:: PMC4527488

Abstract Article PDF–833K

Select item 36446454.

ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity

Hiromi Hirata, Indrajit Nanda, Anne van Riesen, Gai McMichael, Hao Hu, Melanie Hambrock, Marie-Amélie Papon, Ute Fischer, Sylviane Marouillat, Can Ding, Servane Alirol, Melanie Bienek, Sabine Preisler-Adams, Astrid Grimme, Dominik Seelow, Richard Webster, Eric Haan, Alastair MacLennan, Werner Stenzel, Tzu Ying Yap, Alison Gardner, Lam Son Nguyen, Marie Shaw, Nicolas Lebrun, Stefan A. Haas, Wolfram Kress, Thomas Haaf, Elke Schellenberger, Jamel Chelly, Géraldine Viot, Lisa G. Shaffer, Jill A. Rosenfeld, Nancy Kramer, Rena Falk, Dima El-Khechen, Luis F. Escobar, Raoul Hennekam, Peter Wieacker, Christoph Hübner, Hans-Hilger Ropers, Jozef Gecz, Markus Schuelke, Frédéric Laumonnier, Vera M. Kalscheuer

Am J Hum Genet. 2013 May 2; 92(5): 681–695. doi: 10.1016/j.ajhg.2013.03.021

PMCID:: PMC3644645

Abstract Article PDF–1.5M

Select item 31780595.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 5164746.

Identification of 315 genes essential for early zebrafish development

Adam Amsterdam, Robert M. Nissen, Zhaoxia Sun, Eric C. Swindell, Sarah Farrington, Nancy Hopkins

Proc Natl Acad Sci U S A. 2004 Aug 31; 101(35): 12792–12797. Published online 2004 Jul 15. doi: 10.1073/pnas.0403929101

PMCID:: PMC516474

Abstract Article PDF–692K

Select item 1392417.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from GEO Profiles

Items: 7

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity