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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 29870202.

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

Fleur S Van Dijk, Isabel M Nesbitt, Peter G J Nikkels, Ann Dalton, Ernie M H F Bongers, Jiddeke M van de Kamp, Yvonne Hilhorst-Hofstee, Nicolette S Den Hollander, Augusta M A Lachmeijer, Carlo L Marcelis, Gita M B Tan-Sindhunata, Rick R van Rijn, Hanne Meijers-Heijboer, Jan M Cobben, Gerard Pals

Eur J Hum Genet. 2009 Dec; 17(12): 1560–1569. Published online 2009 Jun 24. doi: 10.1038/ejhg.2009.75

Correction in:: Eur J Hum Genet. 2009 Dec; 17(12): 1692.

PMCID:: PMC2987020

Abstract Article PDF–419K

Select item 54707613.

Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect

Emma A. Webb, Meena Balasubramanian, Nadja Fratzl-Zelman, Wayne A. Cabral, Hannah Titheradge, Atif Alsaedi, Vrinda Saraff, Julie Vogt, Trevor Cole, Susan Stewart, Nicola J. Crabtree, Brandi M. Sargent, Sonja Gamsjaeger, Eleftherios P. Paschalis, Paul Roschger, Klaus Klaushofer, Nick J. Shaw, Joan C. Marini, Wolfgang Högler

J Clin Endocrinol Metab. 2017 Jun 1; 102(6): 2019–2028. Published online 2017 Mar 16. doi: 10.1210/jc.2016-3766

PMCID:: PMC5470761

Abstract Article

Select item 53276284.

SPARC/Osteonectin in Mineralized Tissue

Emilie M. Rosset, Amy D. Bradshaw

Matrix Biol. Author manuscript; available in PMC 2017 May 1.

Published in final edited form as: Matrix Biol. 2016 May-Jul; 52-54: 78–87. Published online 2016 Feb 3. doi: 10.1016/j.matbio.2016.02.001

PMCID:: PMC5327628

Abstract Article PDF–411K

Select item 48574085.

Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome

Carla M. Kaneto, Patrícia S. P. Lima, Dalila Lucíola Zanette, Thiago Yukio Kikuchi Oliveira, Francisco de Assis Pereira, Julio Cesar Cetrulo Lorenzi, Jane Lima dos Santos, Karen L. Prata, João M. Pina Neto, Francisco J. A. de Paula, Wilson A. Silva, Jr.

BMC Med Genet. 2016; 17: 38. Published online 2016 May 4. doi: 10.1186/s12881-016-0301-7

PMCID:: PMC4857408

Abstract Article PDF–1.3M

Select item 44579556.

Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC

Roberto Mendoza-Londono, Somayyeh Fahiminiya, Jacek Majewski, Care4Rare Canada Consortium, Martine Tétreault, Javad Nadaf, Peter Kannu, Etienne Sochett, Andrew Howard, Jennifer Stimec, Lucie Dupuis, Paul Roschger, Klaus Klaushofer, Telma Palomo, Jean Ouellet, Hadil Al-Jallad, John S. Mort, Pierre Moffatt, Sergei Boudko, Hans-Peter Bächinger, Frank Rauch

Am J Hum Genet. 2015 Jun 4; 96(6): 979–985. doi: 10.1016/j.ajhg.2015.04.021

PMCID:: PMC4457955

Abstract Article PDF–1.4M

Select item 43146917.

Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment

FS Van Dijk, DO Sillence

Am J Med Genet A. 2014 Jun; 164(6): 1470–1481. Published online 2014 Apr 8. doi: 10.1002/ajmg.a.36545

Correction in:: Am J Med Genet A. 2015 May; 167(5): 1178.

PMCID:: PMC4314691

Abstract Article PDF–633K

Select item 36886728.

Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM5 Mutation

Jay R Shapiro, Caressa Lietman, Monica Grover, James T Lu, Sandesh CS Nagamani, Brian C Dawson, Dustin M Baldridge, Matthew N Bainbridge, Dan H Cohn, Maria Blazo, Timothy T Roberts, Feng-Shu Brennen, Yimei Wu, Richard A Gibbs, Pamela Melvin, Philippe M Campeau, Brendan H Lee

J Bone Miner Res. 2013 Jul; 28(7): 1523–1530. Published online 2013 Jun 18. doi: 10.1002/jbmr.1891

PMCID:: PMC3688672

Abstract Article PDF–1.0M

Select item 31792939.

Mutations in FKBP10 Cause Recessive Osteogenesis Imperfecta and Bruck Syndrome

Brian P Kelley, Fransiska Malfait, Luisa Bonafe, Dustin Baldridge, Erica Homan, Sofie Symoens, Andy Willaert, Nursel Elcioglu, Lionel Van Maldergem, Christine Verellen-Dumoulin, Yves Gillerot, Dobrawa Napierala, Deborah Krakow, Peter Beighton, Andrea Superti-Furga, Anne De Paepe, Brendan Lee

J Bone Miner Res. 2011 Mar; 26(3): 666–672. Published online 2010 Sep 13. doi: 10.1002/jbmr.250

PMCID:: PMC3179293

Abstract Article PDF–235K

Select item 580221810.

A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1

Qi Yang, Hong Xu, Jinsi Luo, Qinle Zhang, Bobo Xie, Sheng Yi, Xiuliang Rong, Jin Wang, Zailong Qin, Tingting Jiang, Li Lin, Yangjin Zuo, Xin Fan

Mol Med Rep. 2018 Mar; 17(3): 4433–4439. Published online 2018 Jan 16. doi: 10.3892/mmr.2018.8436

PMCID:: PMC5802218

Abstract Article PDF–1.1M

Select item 285043011.

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

Yasemin Alanay, Hrispima Avaygan, Natalia Camacho, G. Eda Utine, Koray Boduroglu, Dilek Aktas, Mehmet Alikasifoglu, Ergul Tuncbilek, Diclehan Orhan, Filiz Tiker Bakar, Bernard Zabel, Andrea Superti-Furga, Leena Bruckner-Tuderman, Cindy J.R. Curry, Shawna Pyott, Peter H. Byers, David R. Eyre, Dustin Baldridge, Brendan Lee, Amy E. Merrill, Elaine C. Davis, Daniel H. Cohn, Nurten Akarsu, Deborah Krakow

Am J Hum Genet. 2010 Apr 9; 86(4): 551–559. doi: 10.1016/j.ajhg.2010.02.022

Correction in:: Am J Hum Genet. 2010 Oct 8; 87(4): 572–573.

PMCID:: PMC2850430

Abstract Article PDF–1.2M

Select item 264291812.

A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family

Wei Liu, Feng Gu, Jian Ji, Duanyang Lu, Xiaorong Li, Xu Ma

Mol Vis. 2007; 13: 360–365. Published online 2007 Mar 9.

PMCID:: PMC2642918

Abstract Article PDF–131K

Select item 263880113.

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships

Dale L. Bodian, Ting-Fung Chan, Annie Poon, Ulrike Schwarze, Kathleen Yang, Peter H. Byers, Pui-Yan Kwok, Teri E. Klein

Hum Mol Genet. 2009 Feb 1; 18(3): 463–471. Published online 2008 Nov 7. doi: 10.1093/hmg/ddn374

Correction in:: Hum Mol Genet. 2009 May 15; 18(10): 1893–1895.

PMCID:: PMC2638801

Abstract Article PDF–106K

Select item 168497114.

Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2

Bryan Sykes, Donald Ogilvie, Paul Wordsworth, Gillian Wallis, Chris Mathew, Peter Beighton, Alan Nicholls, F. Michael Pope, Elizabeth Thompson, Petros Tsipouras, Robin Schwartz, Olafur Jensson, Alfred Arnason, Anne-Lise Børresen, Arvid Heiberg, Daniel Frey, Beat Steinmann

Am J Hum Genet. 1990 Feb; 46(2): 293–307.

PMCID:: PMC1684971

Summary Page Browse PDF–1.2M

Select item 118195215.

High Proportion of Mutant Osteoblasts Is Compatible with Normal Skeletal Function in Mosaic Carriers of Osteogenesis Imperfecta

Wayne A. Cabral, Joan C. Marini

Am J Hum Genet. 2004 Apr; 74(4): 752–760. Published online 2004 Mar 11. doi: 10.1086/383252

PMCID:: PMC1181952

Abstract Article PDF–462K

Select item 104950816.

Collagen genes and proteins in osteogenesis imperfecta.

F M Pope, A C Nicholls, J McPheat, P Talmud, R Owen

J Med Genet. 1985 Dec; 22(6): 466–478. doi: 10.1136/jmg.22.6.466

PMCID:: PMC1049508

Summary Page Browse PDF–3.6M

Select item 50703617.

Antisense oligodeoxynucleotides selectively suppress expression of the mutant alpha 2(I) collagen allele in type IV osteogenesis imperfecta fibroblasts. A molecular approach to therapeutics of dominant negative disorders.

Q Wang, J C Marini

J Clin Invest. 1996 Jan 15; 97(2): 448–454. doi: 10.1172/JCI118434

PMCID:: PMC507036

Summary PDF–195K

Select item 15161318.

The effects of intravenous pamidronate on the bone tissue of children and adolescents with osteogenesis imperfecta

Frank Rauch, Rose Travers, Horacio Plotkin, Francis H. Glorieux

J Clin Invest. 2002 Nov 1; 110(9): 1293–1299. doi: 10.1172/JCI15952

PMCID:: PMC151613

Abstract Article PDF–110K

Select item 896255319.

Delineation of dual molecular diagnosis in patients with skeletal deformity

Lian Liu, Liying Sun, Yujun Chen, Muchuan Wang, Chenxi Yu, Yingzhao Huang, Sen Zhao, Huakang Du, Shaoke Chen, Xin Fan, Wen Tian, Zhihong Wu, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group, Guixing Qiu, Terry Jianguo Zhang, Nan Wu

Orphanet J Rare Dis. 2022; 17: 139. Published online 2022 Mar 28. doi: 10.1186/s13023-022-02293-x

PMCID:: PMC8962553

Abstract Article PDF–1.3M

Select item 1110701820.

A recurrent de novo missense mutation in COL1A1 causes osteogenesis imperfecta type II and preterm delivery in Normande cattle

Julien Corbeau, Cécile Grohs, Jeanlin Jourdain, Mekki Boussaha, Florian Besnard, Anne Barbat, Vincent Plassard, Julie Rivière, Christophe Hamelin, Jeremy Mortier, Didier Boichard, Raphaël Guatteo, Aurélien Capitan

Genet Sel Evol. 2024; 56: 39. Published online 2024 May 21. doi: 10.1186/s12711-024-00909-3

PMCID:: PMC11107018

Abstract Article PDF–2.8M

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