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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1989 1
1996 1
1997 1
1998 2
1999 5
2000 4
2001 1
2002 2
2003 2
2004 2
2005 1
2006 3
2008 1
2009 1
2010 3
2011 5
2012 4
2013 4
2014 2
2015 2
2016 3
2017 2
2018 2
2019 4
2020 1
2022 1
2023 1
2024 0

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PubMed for Bookshelf ID: 1487440

59 results

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Page 1
Nosology of genetic skeletal disorders: 2023 revision.
Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier-Daire V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson SP, Savarirayan R, Sillence D, Simon M, Sutton VR, Warman ML, Superti-Furga A. Unger S, et al. Am J Med Genet A. 2023 May;191(5):1164-1209. doi: 10.1002/ajmg.a.63132. Epub 2023 Feb 13. Am J Med Genet A. 2023. PMID: 36779427 Free PMC article.
C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.
Savarirayan R, Irving M, Bacino CA, Bostwick B, Charrow J, Cormier-Daire V, Le Quan Sang KH, Dickson P, Harmatz P, Phillips J, Owen N, Cherukuri A, Jayaram K, Jeha GS, Larimore K, Chan ML, Huntsman Labed A, Day J, Hoover-Fong J. Savarirayan R, et al. N Engl J Med. 2019 Jul 4;381(1):25-35. doi: 10.1056/NEJMoa1813446. Epub 2019 Jun 18. N Engl J Med. 2019. PMID: 31269546 Clinical Trial.
TransCon CNP, a Sustained-Release C-Type Natriuretic Peptide Prodrug, a Potentially Safe and Efficacious New Therapeutic Modality for the Treatment of Comorbidities Associated with Fibroblast Growth Factor Receptor 3-Related Skeletal Dysplasias.
Breinholt VM, Rasmussen CE, Mygind PH, Kjelgaard-Hansen M, Faltinger F, Bernhard A, Zettler J, Hersel U. Breinholt VM, et al. J Pharmacol Exp Ther. 2019 Sep;370(3):459-471. doi: 10.1124/jpet.119.258251. Epub 2019 Jun 24. J Pharmacol Exp Ther. 2019. PMID: 31235532
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM. Zhang J, et al. Nat Med. 2019 Mar;25(3):439-447. doi: 10.1038/s41591-018-0334-x. Epub 2019 Jan 28. Nat Med. 2019. PMID: 30692697
Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia.
Savarirayan R, Rossiter JP, Hoover-Fong JE, Irving M, Bompadre V, Goldberg MJ, Bober MB, Cho TJ, Kamps SE, Mackenzie WG, Raggio C, Spencer SS, White KK; Skeletal Dysplasia Management Consortium. Savarirayan R, et al. Am J Obstet Gynecol. 2018 Dec;219(6):545-562. doi: 10.1016/j.ajog.2018.07.017. Epub 2018 Jul 23. Am J Obstet Gynecol. 2018. PMID: 30048634 Review.
Best practices in peri-operative management of patients with skeletal dysplasias.
White KK, Bompadre V, Goldberg MJ, Bober MB, Cho TJ, Hoover-Fong JE, Irving M, Mackenzie WG, Kamps SE, Raggio C, Redding GJ, Spencer SS, Savarirayan R, Theroux MC; Skeletal Dysplasia Management Consortium. White KK, et al. Am J Med Genet A. 2017 Oct;173(10):2584-2595. doi: 10.1002/ajmg.a.38357. Epub 2017 Aug 1. Am J Med Genet A. 2017. PMID: 28763154
59 results