PMC Articles for MedGen (Select 1684743) - PMC

Select item 110956321.

Neurodevelopmental defects in a mouse model of O-GlcNAc transferase intellectual disability

Florence Authier, Nina Ondruskova, Andrew T. Ferenbach, Alison D. McNeilly, Daan M. F. van Aalten

Dis Model Mech. 2024 Apr 1; 17(4): dmm050671. Published online 2024 Apr 25. doi: 10.1242/dmm.050671

PMCID:: PMC11095632

Select item 110681062.

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

Stephanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L Komdeur, Robin A Liang, Mohamed S Abdel-Hamid, Tipu Sultan, Tuva Barøy, Marijke Van Ghelue, Barbara Vona, Reza Maroofian, Faisal Zafar, Fowzan S Alkuraya, Maha S Zaki, Mariasavina Severino, Kingsley C Duru, Robert C Tryon, Lin Vigdis Brauteset, Morad Ansari, Mark Hamilton, Mieke M van Haelst, Gijs van Haaften, Federico Zara, Henry Houlden, Éric Samarut, Colin G Nichols, Marie F Smeland, Conor McClenaghan

Brain. 2024 May; 147(5): 1822–1836. Published online 2024 Jan 13. doi: 10.1093/brain/awae010

PMCID:: PMC11068106

Abstract Article PDF–1.0M

Select item 75365733.

De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity

Francesca Cristofoli, Tonya Moss, Hannah W. Moore, Koen Devriendt, Heather Flanagan-Steet, Melanie May, Julie Jones, Filip Roelens, Carmen Fons, Anna Fernandez, Loreto Martorell, Angelo Selicorni, Silvia Maitz, Giuseppina Vitiello, Gerd Van der Hoeven, Steven A. Skinner, Mathieu Bollen, Joris R. Vermeesch, Richard Steet, Hilde Van Esch

Am J Hum Genet. 2020 Oct 1; 107(4): 753–762. Published online 2020 Sep 9. doi: 10.1016/j.ajhg.2020.08.015

PMCID:: PMC7536573

Abstract Article PDF–2.1M

Select item 46134694.

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Jianling Ji, Hane Lee, Bob Argiropoulos, Naghmeh Dorrani, John Mann, Julian A Martinez-Agosto, Natalia Gomez-Ospina, Natalie Gallant, Jonathan A Bernstein, Louanne Hudgins, Leah Slattery, Bertrand Isidor, Cédric Le Caignec, Albert David, Ewa Obersztyn, Barbara Wiśniowiecka-Kowalnik, Michelle Fox, Joshua L Deignan, Eric Vilain, Emily Hendricks, Margaret Horton Harr, Sarah E Noon, Jessi R Jackson, Alisha Wilkens, Ghayda Mirzaa, Noriko Salamon, Jeff Abramson, Elaine H Zackai, Ian Krantz, A Micheil Innes, Stanley F Nelson, Wayne W Grody, Fabiola Quintero-Rivera

Eur J Hum Genet. 2015 Oct; 23(11): 1473–1481. Published online 2015 May 6. doi: 10.1038/ejhg.2015.71

PMCID:: PMC4613469

Abstract Article PDF–2.3M

Select item 43152905.

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

Guntram Borck, Friederike Hög, Maria Lisa Dentici, Perciliz L. Tan, Nadine Sowada, Ana Medeira, Lucie Gueneau, Holger Thiele, Maria Kousi, Francesca Lepri, Larissa Wenzeck, Ian Blumenthal, Antonio Radicioni, Tito Livio Schwarzenberg, Barbara Mandriani, Rita Fischetto, Deborah J. Morris-Rosendahl, Janine Altmüller, Alexandre Reymond, Peter Nürnberg, Giuseppe Merla, Bruno Dallapiccola, Nicholas Katsanis, Patrick Cramer, Christian Kubisch

Genome Res. 2015 Feb; 25(2): 155–166. doi: 10.1101/gr.176925.114

Correction in:: Genome Res. 2015 Apr; 25(4): 609.

PMCID:: PMC4315290

Abstract Article PDF–1.1M

Select item 42979106.

Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans

A Gulhan Ercan-Sencicek, Samira Jambi, Daniel Franjic, Sayoko Nishimura, Mingfeng Li, Paul El-Fishawy, Thomas M Morgan, Stephan J Sanders, Kaya Bilguvar, Mohnish Suri, Michele H Johnson, Abha R Gupta, Zafer Yuksel, Shrikant Mane, Elena Grigorenko, Marina Picciotto, Arthur S Alberts, Murat Gunel, Nenad Šestan, Matthew W State

Eur J Hum Genet. 2015 Feb; 23(2): 165–172. Published online 2014 Apr 30. doi: 10.1038/ejhg.2014.82

PMCID:: PMC4297910

Abstract Article PDF–1.5M

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