PMC Articles for MedGen (Select 1684749) - PMC

Select item 107155261.

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

Francesca Peluso, Stefano G Caraffi, Gianluca Contrò, Lara Valeri, Manuela Napoli, Giorgia Carboni, Alka Seth, Roberta Zuntini, Emanuele Coccia, Guja Astrea, Anne-Marie Bisgaard, Ivan Ivanovski, Silvia Maitz, Elise Brischoux-Boucher, Melissa T Carter, Maria Lisa Dentici, Koenraad Devriendt, Melissa Bellini, Maria Cristina Digilio, Asif Doja, David A Dyment, Stense Farholt, Carlos R Ferreira, Lynne A Wolfe, William A Gahl, Maria Gnazzo, Himanshu Goel, Sabine Weller Grønborg, Trine Hammer, Lorenzo Iughetti, Tjitske Kleefstra, David A Koolen, Francesca Romana Lepri, Gabrielle Lemire, Pedro Louro, Gary McCullagh, Simona F Madeo, Annarita Milone, Roberta Milone, Jens Erik Klint Nielsen, Antonio Novelli, Charlotte W. Ockeloen, Rosario Pascarella, Tommaso Pippucci, Ivana Ricca, Stephen P Robertson, Sarah Sawyer, Marie Falkenberg Smeland, Sander Stegmann, Constanze T Stumpel, Amy Goel, Juliet M Taylor, Domenico Barbuti, Annarosa Soresina, Maria Francesca Bedeschi, Roberta Battini, Anna Cavalli, Carlo Fusco, Maria Iascone, Lionel Van Maldergem, Sunita Venkateswaran, Orsetta Zuffardi, Samantha Vergano, Livia Garavelli, Allan Bayat

J Med Genet. 2023 Dec; 60(12): 1224–1234. Published online 2023 Aug 16. doi: 10.1136/jmg-2023-109141

PMCID:: PMC10715526

Abstract Article PDF–2.8M

Select item 103424532.

Improving Rice Leaf Shape Using CRISPR/Cas9-Mediated Genome Editing of SRL1 and Characterizing Its Regulatory Network Involved in Leaf Rolling through Transcriptome Analysis

Yue Han, Jinlian Yang, Hu Wu, Fang Liu, Baoxiang Qin, Rongbai Li

Int J Mol Sci. 2023 Jul; 24(13): 11087. Published online 2023 Jul 4. doi: 10.3390/ijms241311087

PMCID:: PMC10342453

Abstract Article PDF–2.7M

Select item 85957263.

Repulsive guidance molecule acts in axon branching in Caenorhabditis elegans

Kaname Tsutsui, Hon-Song Kim, Chizu Yoshikata, Kenji Kimura, Yukihiko Kubota, Yukimasa Shibata, Chenxi Tian, Jun Liu, Kiyoji Nishiwaki

Sci Rep. 2021; 11: 22370. Published online 2021 Nov 16. doi: 10.1038/s41598-021-01853-8

PMCID:: PMC8595726

Abstract Article PDF–3.4M

Select item 83659584.

De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy

Robin N. Stringer, Bohumila Jurkovicova-Tarabova, Ivana A. Souza, Judy Ibrahim, Tomas Vacik, Waseem Mahmoud Fathalla, Jozef Hertecant, Gerald W. Zamponi, Lubica Lacinova, Norbert Weiss

Mol Brain. 2021; 14: 126. Published online 2021 Aug 16. doi: 10.1186/s13041-021-00838-y

PMCID:: PMC8365958

Abstract Article PDF–1.5M

Select item 80485305.

Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

Kevin E. Glinton, Anna C. E. Hurst, Kevin M. Bowling, Ingrid Cristian, Devon Haynes, Dusit Adstamongkonkul, Oskar Schnappauf, David B. Beck, Carole Brewer, Aditi Shah Parikh, Deepali N. Shinde, Alan Donaldson, Ariel Brautbar, Saskia Koene, Arie van Haeringen, Amélie Piton, Yline Capri, Margherita Furlan, Elena Gardella, Rikke Steensbjerre Møller, Irma van de Beek, Linda Zuurbier, Phillis Lakeman, Allan Bayat, Julian Martinez, Rebecca Signer, Pernille M. Torring, Morten Buch Engelund, Karen W. Gripp, Louise Amlie‐Wolf, Lindsay B. Henderson, Alina T. Midro, Eugeniusz Tarasów, Beata Stasiewicz‐Jarocka, Diana Moskal‐Jasinska, Paul Vos, Felix Boschann, Corinna Stoltenburg, Oliver Puk, Inger‐Lise Mero, Kristine Lossius, Cyril Mignot, Boris Keren, Johanna C. Acosta Guio, Ignacio Briceño, Alberto Gomez, Yaping Yang, Pawel Stankiewicz

Am J Med Genet A. 2021 May; 185(5): 1366–1378. Published online 2021 Jan 31. doi: 10.1002/ajmg.a.62102

PMCID:: PMC8048530

Abstract Article PDF–11M

Select item 78395086.

PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations

Camille Tremblay‐Laganière, Rauan Kaiyrzhanov, Reza Maroofian, Thi Tuyet Mai Nguyen, Kamran Salayev, Ilana T. Chilton, Wendy K. Chung, Jill A. Madden, Chanika Phornphutkul, Pankaj B. Agrawal, Henry Houlden, Philippe M. Campeau

Clin Genet. 2021 Feb; 99(2): 313–317. Published online 2020 Nov 27. doi: 10.1111/cge.13877

PMCID:: PMC7839508

Abstract Article PDF–958K

Select item 66988797.

Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies

Alexej Knaus, Fanny Kortüm, Tjitske Kleefstra, Asbjørg Stray-Pedersen, Dejan Đukić, Yoshiko Murakami, Thorsten Gerstner, Hans van Bokhoven, Zafar Iqbal, Denise Horn, Taroh Kinoshita, Maja Hempel, Peter M. Krawitz

Am J Hum Genet. 2019 Aug 1; 105(2): 395–402. Published online 2019 Jul 25. doi: 10.1016/j.ajhg.2019.06.009

PMCID:: PMC6698879

Abstract Article PDF–958K

Select item 62317168.

The phenotypic spectrum of Xia-Gibbs syndrome

Yunyun Jiang, Michael F. Wangler, Amy L. McGuire, James R. Lupski, Jennifer E. Posey, Michael M. Khayat, David R. Murdock, Luis Sanchez-Pulido, Chris P. Ponting, Fan Xia, Jill V. Hunter, Qingchang Meng, Mullai Murugan, Richard A. Gibbs

Am J Med Genet A. Author manuscript; available in PMC 2018 Dec 1.

Published in final edited form as: Am J Med Genet A. 2018 Jun; 176(6): 1315–1326. Published online 2018 Apr 25. doi: 10.1002/ajmg.a.38699

PMCID:: PMC6231716

Abstract Article PDF–821K

Select item 60265569.

The course of awake breathing disturbances across the lifespan in Rett syndrome

Daniel C. Tarquinio, Wei Hou, Jeffrey L. Neul, Gamze Kilic Berkmen, Jana Drummond, Elizabeth Aronoff, Jennifer Harris, Jane B. Lane, Walter E. Kaufmann, Kathleen J. Motil, Daniel G. Glaze, Steven A. Skinner, Alan K. Percy

Brain Dev. Author manuscript; available in PMC 2019 Aug 1.

Published in final edited form as: Brain Dev. 2018 Aug; 40(7): 515–529. Published online 2018 Apr 12. doi: 10.1016/j.braindev.2018.03.010