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Select item 93144841.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Article PDF–776K

Select item 74972892.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Article PDF–2.5M

Select item 68177203.

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

Shahida Moosa, Guilherme L. Yamamoto, Lutz Garbes, Katharina Keupp, Ana Beleza-Meireles, Carolina Araujo Moreno, Eugenia Ribeiro Valadares, Sérgio B. de Sousa, Sofia Maia, Jorge Saraiva, Rachel S. Honjo, Chong Ae Kim, Hamilton Cabral de Menezes, Ekkehart Lausch, Pablo Villavicencio Lorini, Arsonval Lamounier, Jr., Tulio Canella Bezerra Carniero, Cecilia Giunta, Marianne Rohrbach, Marco Janner, Oliver Semler, Filippo Beleggia, Yun Li, Gökhan Yigit, Nadine Reintjes, Janine Altmüller, Peter Nürnberg, Denise P. Cavalcanti, Bernhard Zabel, Matthew L. Warman, Debora R. Bertola, Bernd Wollnik, Christian Netzer

Am J Hum Genet. 2019 Oct 3; 105(4): 836–843. Published online 2019 Sep 26. doi: 10.1016/j.ajhg.2019.08.008

PMCID:: PMC6817720

Article PDF–1.2M

Select item 67774444.

Genotype–phenotype correlation study in 364 osteogenesis imperfecta Italian patients

Margherita Maioli, Maria Gnoli, Manila Boarini, Morena Tremosini, Anna Zambrano, Elena Pedrini, Marina Mordenti, Serena Corsini, Patrizia D’Eufemia, Paolo Versacci, Mauro Celli, Luca Sangiorgi

Eur J Hum Genet. 2019 Jul; 27(7): 1090–1100. Published online 2019 Mar 18. doi: 10.1038/s41431-019-0373-x

PMCID:: PMC6777444

Article PDF–788K

Select item 66114875.

Bisphosphonate therapy for osteogenesis imperfecta

Kerry Dwan, Carrie A Phillipi, Robert D Steiner, Donald Basel, Cochrane Cystic Fibrosis and Genetic Disorders Group

Cochrane Database Syst Rev. 2016; 2016(10): CD005088. Published online 2016 Oct 19. doi: 10.1002/14651858.CD005088.pub4

PMCID:: PMC6611487

Article PDF–658K

Select item 65454546.

A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly

Thunyaporn Budsamongkol, Narin Intarak, Thanakorn Theerapanon, Somchai Yodsanga, Thantrira Porntaveetus, Vorasuk Shotelersuk

Genes Dis. 2019 Jun; 6(2): 138–146. Published online 2019 Mar 16. doi: 10.1016/j.gendis.2019.03.001

PMCID:: PMC6545454

Article PDF–3.3M

Select item 65246737.

A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta

Jaskaran S Bains, Erin M Carter, Kate P Citron, Adele L Boskey, Jay R Shapiro, Robert D Steiner, Peter A Smith, Michael B Bober, Tracy Hart, David Cuthbertson, Jeff Krischer, Peter H Byers, Melanie Pepin, Michaela Durigova, Francis H Glorieux, Frank Rauch, Joseph M Sliepka, V Reid Sutton, Brendan Lee, Members of the BBD Consortium, Sandesh CS Nagamani, Cathleen L Raggio

JBMR Plus. 2019 May; 3(5): e10118. Published online 2019 Jan 7. doi: 10.1002/jbm4.10118

PMCID:: PMC6524673

Article PDF–200K

Select item 61540458.

The Forteo Patient Registry linkage to multiple state cancer registries: study design and results from the first 8 years

A. Gilsenan, A. Harding, N. Kellier-Steele, D. Harris, K. Midkiff, E. Andrews

Osteoporos Int. 2018; 29(10): 2335–2343. Published online 2018 Jul 5. doi: 10.1007/s00198-018-4604-8

PMCID:: PMC6154045

Article PDF–563K

Select item 55547079.

Denosumab: An Emerging Therapy in Pediatric Bone Disorders

Alison M Boyce

Curr Osteoporos Rep. Author manuscript; available in PMC 2018 Aug 1.

Published in final edited form as: Curr Osteoporos Rep. 2017 Aug; 15(4): 283–292. doi: 10.1007/s11914-017-0380-1

PMCID:: PMC5554707

Article PDF–211K

Select item 508945110.

Safety and efficacy of denosumab in children with osteogenesis imperfecta - a first prospective trial

H. Hoyer-Kuhn, J. Franklin, G. Allo, M. Kron, C. Netzer, P. Eysel, B. Hero, E. Schoenau, O. Semler

J Musculoskelet Neuronal Interact. 2016 Mar; 16(1): 24–32.

PMCID:: PMC5089451

Article PDF–716K

Select item 505447311.

Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2

Anja Lisbeth Frederiksen, Morten Duno, Iben B. G. Johnsen, Morten Frost Nielsen, Anne Bruun Krøigård

Clin Case Rep. 2016 Oct; 4(10): 972–978. Published online 2016 Aug 31. doi: 10.1002/ccr3.658

PMCID:: PMC5054473

Article PDF–598K

Select item 454475312.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Article PDF–960K

Select item 418053113.

Two years’ experience with denosumab for children with Osteogenesis imperfecta type VI

Heike Hoyer-Kuhn, Christian Netzer, Friederike Koerber, Eckhard Schoenau, Oliver Semler

Orphanet J Rare Dis. 2014; 9: 145. Published online 2014 Sep 26. doi: 10.1186/s13023-014-0145-1

PMCID:: PMC4180531

Article PDF–1.3M

Select item 390462114.

Evaluation of teriparatide treatment in adults with osteogenesis imperfecta

Eric S. Orwoll, Jay Shapiro, Sandra Veith, Ying Wang, Jodi Lapidus, Chaim Vanek, Jan L. Reeder, Tony M. Keaveny, David C. Lee, Mary A. Mullins, Sandesh C.S. Nagamani, Brendan Lee

J Clin Invest. 2014 Feb 3; 124(2): 491–498. Published online 2014 Jan 27. doi: 10.1172/JCI71101

PMCID:: PMC3904621

Article PDF–799K

Select item 343309515.

Transplanted bone marrow mononuclear cells and MSCs impart clinical benefit to children with osteogenesis imperfecta through different mechanisms

Satoru Otsuru, Patricia L. Gordon, Kengo Shimono, Reena Jethva, Roberta Marino, Charlotte L. Phillips, Ted J. Hofmann, Elena Veronesi, Massimo Dominici, Masahiro Iwamoto, Edwin M. Horwitz

Blood. 2012 Aug 30; 120(9): 1933–1941. Prepublished online 2012 Jul 24. doi: 10.1182/blood-2011-12-400085

PMCID:: PMC3433095

Article

Select item 323450916.

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