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Select item 32345091.

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

Fleur S van Dijk, Peter H Byers, Raymond Dalgleish, Fransiska Malfait, Alessandra Maugeri, Marianne Rohrbach, Sofie Symoens, Erik A Sistermans, Gerard Pals

Eur J Hum Genet. 2012 Jan; 20(1): 11–19. Published online 2011 Aug 10. doi: 10.1038/ejhg.2011.141

PMCID:: PMC3234509

Abstract Article PDF–495K

Select item 63206862.

Popcorn Calcification in Osteogenesis Imperfecta: Incidence, Progression, and Molecular Correlation

Abimbola A. Obafemi, Dorothy I. Bulas, James Troendle, Joan C. Marini

Am J Med Genet A. Author manuscript; available in PMC 2019 Jan 5.

Published in final edited form as: Am J Med Genet A. 2008 Nov 1; 146A(21): 2725–2732. doi: 10.1002/ajmg.a.32508

PMCID:: PMC6320686

Abstract Article PDF–714K

Select item 60314573.

Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

Tim Cundy, Michael Dray, John Delahunt, Jannie Dahl Hald, Bente Langdahl, Chumei Li, Marta Szybowska, Shehla Mohammed, Emma L Duncan, Aideen M McInerney-Leo, Patricia G Wheeler, Paul Roschger, Klaus Klaushofer, Jyoti Rai, MaryAnn Weis, David Eyre, Ulrike Schwarze, Peter H Byers

J Bone Miner Res. Author manuscript; available in PMC 2018 Jul 4.

Published in final edited form as: J Bone Miner Res. 2018 Jul; 33(7): 1260–1271. Published online 2018 Apr 18. doi: 10.1002/jbmr.3424

PMCID:: PMC6031457

Abstract Article PDF–1.3M

Select item 58167254.

Monoallelic and Biallelic CREB3L1 Variant Causes Mild and Severe Osteogenesis Imperfecta, Respectively

Rachel B Keller, Thao T Tran, Shawna M Pyott, Melanie G Pepin, Ravi Savarirayan, George McGillivray, UW Center For Mendelian Genomics, Deborah A Nickerson, Michael J Bamshad, Peter H Byers

Genet Med. Author manuscript; available in PMC 2018 Apr 11.

Published in final edited form as: Genet Med. 2018 Apr; 20(4): 411–419. Published online 2017 Aug 17. doi: 10.1038/gim.2017.115

PMCID:: PMC5816725

Abstract Article PDF–1.8M

Select item 56555015.

Heat shock protein 47 and 65-kDa FK506-binding protein weakly but synergistically interact during collagen folding in the endoplasmic reticulum

Yoshihiro Ishikawa, Paul Holden, Hans Peter Bächinger

J Biol Chem. 2017 Oct 20; 292(42): 17216–17224. Published online 2017 Aug 31. doi: 10.1074/jbc.M117.802298

PMCID:: PMC5655501

Abstract Article PDF–1.9M

Select item 55587036.

Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients

Lidiia Zhytnik, Katre Maasalu, Ene Reimann, Ele Prans, Sulev Kõks, Aare Märtson

Hum Genomics. 2017; 11: 19. Published online 2017 Aug 15. doi: 10.1186/s40246-017-0115-5

PMCID:: PMC5558703

Abstract Article PDF–820K

Select item 54289107.

Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta – A retrospective cohort study

Kristofer Andersson, Göran Dahllöf, Katarina Lindahl, Andreas Kindmark, Giedre Grigelioniene, Eva Åström, Barbro Malmgren

PLoS One. 2017; 12(5): e0176466. Published online 2017 May 12. doi: 10.1371/journal.pone.0176466

PMCID:: PMC5428910

Abstract Article PDF–6.3M

Select item 41534238.

Osteogenesis imperfecta and primary open angle glaucoma: Genotypic analysis of a new phenotypic association

Dana J. Wallace, Felix Y. Chau, Cecilia Santiago-Turla, Michael Hauser, Pratap Challa, Paul P. Lee, Leon W. Herndon, R. Rand Allingham

Mol Vis. 2014; 20: 1174–1181. Published online 2014 Aug 29.

PMCID:: PMC4153423

Abstract Article PDF–1.7M

Select item 41443499.

Consortium for Osteogenesis Imperfecta Mutations in the Helical Domain of Type I Collagen: Regions Rich in Lethal Mutations Align With Collagen Binding Sites for Integrins and Proteoglycans

Joan C. Marini, Antonella Forlino, Wayne A. Cabral, Aileen M. Barnes, James D. San Antonio, Sarah Milgrom, James C. Hyland, Jarmo Körkkö, Darwin J. Prockop, Anne De Paepe, Paul Coucke, Sofie Symoens, Francis H. Glorieux, Peter J. Roughley, Alan M. Lund, Kaija Kuurila-Svahn, Heini Hartikka, Daniel H. Cohn, Deborah Krakow, Monica Mottes, Ulrike Schwarze, Diana Chen, Kathleen Yang, Christine Kuslich, James Troendle, Raymond Dalgleish, Peter H. Byers

Hum Mutat. Author manuscript; available in PMC 2014 Aug 26.

Published in final edited form as: Hum Mutat. 2007 Mar; 28(3): 209–221. doi: 10.1002/humu.20429

PMCID:: PMC4144349

Abstract Article PDF–1004K

Select item 404832610.

Excessive TGFß signaling is a common mechanism in Osteogenesis Imperfecta

Ingo Grafe, Tao Yang, Stefanie Alexander, Erica Homan, Caressa Lietman, Ming Ming Jiang, Terry Bertin, Elda Munivez, Yuqing Chen, Brian Dawson, Yoshihiro Ishikawa, Mary Ann Weis, T. Kuber Sampath, Catherine Ambrose, David Eyre, Hans Peter Bächinger, Brendan Lee

Nat Med. Author manuscript; available in PMC 2014 Dec 1.

Published in final edited form as: Nat Med. 2014 Jun; 20(6): 670–675. Published online 2014 May 4. doi: 10.1038/nm.3544

PMCID:: PMC4048326

Abstract Article PDF–953K

Select item 365514111.

Lack of Genotoxicity due to Foamy Virus Vector Integration in Human iPSCs

David R. Deyle, Iram F. Khan, Gaoying Ren, David W. Russell

Gene Ther. Author manuscript; available in PMC 2014 Feb 1.

Published in final edited form as: Gene Ther. 2013 Aug; 20(8): 868–873. Published online 2013 Feb 7. doi: 10.1038/gt.2013.6

PMCID:: PMC3655141

Abstract Article PDF–1.2M

Select item 325641412.

Normal Collagen and Bone Production by Gene-targeted Human Osteogenesis Imperfecta iPSCs

David R Deyle, Iram F Khan, Gaoying Ren, Pei-Rong Wang, Jordan Kho, Ulrike Schwarze, David W Russell

Mol Ther. 2012 Jan; 20(1): 204–213. Published online 2011 Oct 25. doi: 10.1038/mt.2011.209

PMCID:: PMC3256414

Abstract Article PDF–896K

Select item 1115133413.

Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities

Bernadette R Gochuico, Mahin Hossain, Sara K Talvacchio, Mei Xing G Zuo, Mark Barton, An Ngoc Dang Do, Joan C Marini

J Med Genet. Author manuscript; available in PMC 2024 Jun 5.

Published in final edited form as: J Med Genet. 2023 Nov; 60(11): 1067–1075. Published online 2023 May 16. doi: 10.1136/jmg-2022-109009

PMCID:: PMC11151334

Abstract Article PDF–1.2M

Select item 306398714.

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes

Shawna M. Pyott, Ulrike Schwarze, Helena E. Christiansen, Melanie G. Pepin, Dru F. Leistritz, Richard Dineen, Catharine Harris, Barbara K. Burton, Brad Angle, Katherine Kim, Michael D. Sussman, MaryAnn Weis, David R. Eyre, David W. Russell, Kevin J. McCarthy, Robert D. Steiner, Peter H. Byers

Hum Mol Genet. 2011 Apr 15; 20(8): 1595–1609. Published online 2011 Jan 31. doi: 10.1093/hmg/ddr037