PMC Articles for MedGen (Select 371977) - PMC

Bertrand Chesneau, Thomas Edouard, Yves Dulac, Hélène Colineaux, Maud Langeois, Nadine Hanna, Catherine Boileau, Pauline Arnaud, Nicolas Chassaing, Sophie Julia, Guillaume Jondeau, Aurélie Plancke, Philippe Khau Van Kien, Julie Plaisancié

Mol Genet Genomic Med. 2020 May; 8(5): e1132. Published online 2020 Mar 10. doi: 10.1002/mgg3.1132

PMCID:: PMC7216810

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Select item 62957265.

Loss of histone methyltransferase Ezh2 stimulates an osteogenic transcriptional program in chondrocytes but does not affect cartilage development

Emily T. Camilleri, Amel Dudakovic, Scott M. Riester, Catalina Galeano-Garces, Christopher R. Paradise, Elizabeth W. Bradley, Meghan E. McGee-Lawrence, Hee-Jeong Im, Marcel Karperien, Aaron J. Krych, Jennifer J. Westendorf, A. Noelle Larson, Andre J. van Wijnen

J Biol Chem. 2018 Dec 7; 293(49): 19001–19011. Published online 2018 Oct 16. doi: 10.1074/jbc.RA118.003909

PMCID:: PMC6295726

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Select item 62353646.

HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study

Bastian Oppl, Emma Husar-Memmer, Svea Pfefferkorn, Martha Blank, Peter Zenz, Eva Gollob, Christian Wurnig, Alfred Engel, Andreas Stadlmayr, Gökhan Uyanik, Wolfgang Brozek, Klaus Klaushofer, Jochen Zwerina, Christian Datz

PLoS One. 2018; 13(11): e0207415. Published online 2018 Nov 14. doi: 10.1371/journal.pone.0207415

PMCID:: PMC6235364

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Select item 35280797.

Assessing Constitutive Activity of Extracellular Calcium-Sensing Receptors In Vitro and in Bone

Wenhan Chang, Melita Dvorak, Dolores Shoback

Methods Enzymol. Author manuscript; available in PMC 2012 Dec 21.

Published in final edited form as: Methods Enzymol. 2010; 484: 253–266. doi: 10.1016/B978-0-12-381298-8.00013-7

PMCID:: PMC3528079

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Two Novel COL2A1 Mutations Associated with a Legg-Calvé-Perthes Disease-like Presentation

Peter Kannu, Melita Irving, Salim Aftimos, Ravi Savarirayan

Clin Orthop Relat Res. 2011 Jun; 469(6): 1785–1790. Published online 2011 Mar 26. doi: 10.1007/s11999-011-1850-x

PMCID:: PMC3094608

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Select item 26496989.

Smad3-Deficient Chondrocytes Have Enhanced BMP Signaling and Accelerated Differentiation

Tian-Fang Li, Michael Darowish, Michael J Zuscik, Di Chen, Edward M Schwarz, Randy N Rosier, Hicham Drissi, Regis J O’Keefe

J Bone Miner Res. Author manuscript; available in PMC 2009 Mar 2.

Published in final edited form as: J Bone Miner Res. 2006 Jan; 21(1): 4–16. Published online 2005 Sep 19. doi: 10.1359/JBMR.050911

PMCID:: PMC2649698

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The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda

A. K. Gedeon, G. E. Tiller, M. Le Merrer, S. Heuertz, L. Tranebjaerg, D. Chitayat, S. Robertson, I. A. Glass, R. Savarirayan, W. G. Cole, D. L. Rimoin, B. G. Kousseff, H. Ohashi, B. Zabel, A. Munnich, J. Gecz, J. C. Mulley

Am J Hum Genet. 2001 Jun; 68(6): 1386–1397. Published online 2001 May 8. doi: 10.1086/320592

PMCID:: PMC1226125

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Select item 105070311.

PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome.

N N Ahmad, D M McDonald-McGinn, P Dixon, E H Zackai, W S Tasman

J Med Genet. 1996 Aug; 33(8): 678–681. doi: 10.1136/jmg.33.8.678

PMCID:: PMC1050703

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Mild Myopathy Is Associated with COMP but Not MATN3 Mutations in Mouse Models of Genetic Skeletal Diseases

Katarzyna A. Piróg, Yoshihisa Katakura, Aleksandr Mironov, Michael D. Briggs

PLoS One. 2013; 8(11): e82412. Published online 2013 Nov 27. doi: 10.1371/journal.pone.0082412

PMCID:: PMC3842254

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AI aided workflow for hip dysplasia screening using ultrasound in primary care clinics

Jacob L. Jaremko, Abhilash Hareendranathan, Seyed Ehsan Seyed Bolouri, Rod Fitzsimmons Frey, Sukhdeep Dulai, Allan L. Bailey

Sci Rep. 2023; 13: 9224. Published online 2023 Jun 7. doi: 10.1038/s41598-023-35603-9

PMCID:: PMC10247760

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Therapeutic and diagnostic advances in Stickler syndrome

Martin Snead, Howard Martin, Peter Bale, Nick Shenker, David Baguley, Philip Alexander, Annie McNinch, Arabella Poulson

Ther Adv Rare Dis. 2020 Jan-Dec; 1: 2633004020978661. Published online 2020 Dec 9. doi: 10.1177/2633004020978661

PMCID:: PMC10032448

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Musculoskeletal and Gait Characteristics in Patients with Stickler Syndrome: A Cross-Sectional Study

Juan José Fernández-Pérez, Paloma Mascaraque-Ruiz, Carlos Martín-Gómez, Ignacio Martínez-Caballero, Teresa Otón, Loreto Carmona, Sergio Lerma-Lara

Children (Basel) 2022 Dec; 9(12): 1895. Published online 2022 Dec 2. doi: 10.3390/children9121895

PMCID:: PMC9777477

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Artificial intelligence-generated hip radiological measurements are fast and adequate for reliable assessment of hip dysplasia: an external validation study

Holden Archer, Seth Reine, Ahmed Alshaikhsalama, Joel Wells, Ajay Kohli, Louis Vazquez, Allan Hummer, Matthew D. DiFranco, Richard Ljuhar, Yin Xi, Avneesh Chhabra

Bone Jt Open. 2022 Nov; 3(11): 877–884. Published online 2022 Sep 28. doi: 10.1302/2633-1462.311.BJO-2022-0125.R1

PMCID:: PMC9709495

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Systematic Review of Current Approaches to Tibia Plateau: Best Clinical Evidence

Gur Aziz Singh Sidhu, Jamie Hind, Neil Ashwood, Harjot Kaur, Hannah Bridgwater, Shyam Rajagopalan

Cureus. 2022 Jul; 14(7): e27183. Published online 2022 Jul 23. doi: 10.7759/cureus.27183

PMCID:: PMC9395202

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Chronically Elevated Contact Stress Exposure Correlates with Intra-Articular Cartilage Degeneration in Patients with Concurrent Acetabular Dysplasia and Femoroacetabular Impingement

Holly D. Aitken, Robert W. Westermann, Nicholas I. Bartschat, Alex M. Meyer, Marc J. Brouillette, Natalie A. Glass, John C. Clohisy, Michael C. Willey, Jessica E. Goetz

J Orthop Res. Author manuscript; available in PMC 2023 Nov 1.

Published in final edited form as: J Orthop Res. 2022 Nov; 40(11): 2632–2645. Published online 2022 Feb 6. doi: 10.1002/jor.25285