PMC Articles for MedGen (Select 355563) - PMC

Select item 56198641.

Techniques for epicardial mapping and ablation with a miniature robotic walker

Dwight A Meglan, Wener Lv, Richard J Cohen, Cameron N Riviere

Robot Surg. 2017; 4: 25–31. Published online 2017 Mar 23. doi: 10.2147/RSRR.S127047

PMCID:: PMC5619864

Select item 27711782.

Altered endochondral bone development in matrix metalloproteinase 13-deficient mice

Dominique Stickens, Danielle J. Behonick, Nathalie Ortega, Babette Heyer, Bettina Hartenstein, Ying Yu, Amanda J. Fosang, Marina Schorpp-Kistner, Peter Angel, Zena Werb

Development. Author manuscript; available in PMC 2009 Nov 1.

Published in final edited form as: Development. 2004 Dec; 131(23): 5883–5895. doi: 10.1242/dev.01461

PMCID:: PMC2771178

Abstract Article PDF–8.0M

Select item 99727833.

IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type)

Pauline De Kinderen, Silke Peeters, Laura Rabaut, Geert Mortier, Peter Ponsaerts, Bart Loeys, Aline Verstraeten, Josephina A.N. Meester

Stem Cell Res. 2023 Mar; 67: 103024. doi: 10.1016/j.scr.2023.103024

PMCID:: PMC9972783

Abstract Article

Select item 95565334.

Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)

Yohei Masunaga, Gen Nishimura, Koji Takahashi, Tomiyuki Hishiyama, Masatoshi Imamura, Kenichi Kashimada, Machiko Kadoya, Yoshinao Wada, Nobuhiko Okamoto, Daiju Oba, Hirofumi Ohashi, Mitsuru Ikeno, Yuko Sakamoto, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata

Sci Rep. 2022; 12: 17079. Published online 2022 Oct 12. doi: 10.1038/s41598-022-21751-x

PMCID:: PMC9556533

Abstract Article PDF–4.4M

Select item 79885645.

Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia

Alice Costantini, Jessica J Alm, Francesca Tonelli, Helena Valta, Céline Huber, Anh N Tran, Valentina Daponte, Nadi Kirova, Yong‐Uk Kwon, Jung Yun Bae, Woo Yeong Chung, Shengjiang Tan, Yves Sznajer, Gen Nishimura, Tuomas Näreoja, Alan J Warren, Valérie Cormier‐Daire, Ok‐Hwa Kim, Antonella Forlino, Tae‐Joon Cho, Outi Mäkitie

J Bone Miner Res. 2021 Feb; 36(2): 283–297. Published online 2020 Oct 13. doi: 10.1002/jbmr.4177

PMCID:: PMC7988564

Abstract Article PDF–7.0M

Select item 68493596.

RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature

Cedric Le Caignec, Benjamin Ory, François Lamoureux, Marie-Francoise O’Donohue, Emilien Orgebin, Pierre Lindenbaum, Stéphane Téletchéa, Manon Saby, Anna Hurst, Katherine Nelson, Shawn R. Gilbert, Yael Wilnai, Leonid Zeitlin, Eitan Segev, Robel Tesfaye, Mathilde Nizon, Benjamin Cogne, Stéphane Bezieau, Loic Geoffroy, Antoine Hamel, Emmanuelle Mayrargue, Benoît de Courtivron, Aliette Decock-Giraudaud, Céline Charrier, Olivier Pichon, Christelle Retière, Richard Redon, Alexander Pepler, Kirsty McWalter, Lydie Da Costa, Annick Toutain, Pierre-Emmanuel Gleizes, Marc Baud’huin, Bertrand Isidor

Am J Hum Genet. 2019 Nov 7; 105(5): 1040–1047. Published online 2019 Oct 17. doi: 10.1016/j.ajhg.2019.09.024

PMCID:: PMC6849359

Abstract Article PDF–1.9M

Select item 46370887.

Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias

Shuji Mizumoto, Shuhei Yamada, Kazuyuki Sugahara

Biomed Res Int. 2015; 2015: 861752. Published online 2015 Oct 25. doi: 10.1155/2015/861752

PMCID:: PMC4637088

Abstract Article PDF–612K

Select item 16987838.

Functional Knockout of the Matrilin-3 Gene Causes Premature Chondrocyte Maturation to Hypertrophy and Increases Bone Mineral Density and Osteoarthritis

Louise van der Weyden, Lei Wei, Junming Luo, Xu Yang, David E. Birk, David J. Adams, Allan Bradley, Qian Chen

Am J Pathol. 2006 Aug; 169(2): 515–527. doi: 10.2353/ajpath.2006.050981

PMCID:: PMC1698783

Abstract Article PDF–3.2M

Select item 12016609.

MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD_MO)

Ann M. Kennedy, Masaki Inada, Stephen M. Krane, Paul T. Christie, Brian Harding, Carlos López-Otín, Luis M. Sánchez, Anna A.J. Pannett, Andrew Dearlove, Claire Hartley, Michael H. Byrne, Anita A.C. Reed, M. Andrew Nesbit, Michael P. Whyte, Rajesh V. Thakker

J Clin Invest. 2005 Oct 1; 115(10): 2832–2842. doi: 10.1172/JCI22900

PMCID:: PMC1201660

Abstract Article PDF–1.2M

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