Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.


The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation


My NCBI Filters

Results by year

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

Year Number of Results
1967 1
1978 1
1980 2
1982 2
1984 1
1987 2
1988 5
1989 2
1991 1
1994 2
1995 4
1996 4
1997 2
1998 3
2000 2
2002 1
2003 2
2004 2
2005 4
2006 2
2007 3
2008 3
2009 2
2010 2
2011 4
2012 4
2013 2
2014 2
2015 8
2016 10
2017 6
2018 6
2019 4
2020 2
2021 2
2022 2
2023 1

Text availability

Article attribute

Article type

Publication date

PubMed (Bookshelf cited) for id: 1289

99 results

Results by year

Filters applied: . Clear all
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
Pharmacokinetics and Exposure-Response of Vosoritide in Children with Achondroplasia.
Chan ML, Qi Y, Larimore K, Cherukuri A, Seid L, Jayaram K, Jeha G, Fisheleva E, Day J, Huntsman-Labed A, Savarirayan R, Irving M, Bacino CA, Hoover-Fong J, Ozono K, Mohnike K, Wilcox WR, Horton WA, Henshaw J. Chan ML, et al. Clin Pharmacokinet. 2022 Feb;61(2):263-280. doi: 10.1007/s40262-021-01059-1. Epub 2021 Aug 25. Clin Pharmacokinet. 2022. PMID: 34431071 Free PMC article. Clinical Trial.
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study.
Savarirayan R, Tofts L, Irving M, Wilcox WR, Bacino CA, Hoover-Fong J, Font RU, Harmatz P, Rutsch F, Bober MB, Polgreen LE, Ginebreda I, Mohnike K, Charrow J, Hoernschemeyer D, Ozono K, Alanay Y, Arundel P, Kotani Y, Yasui N, White KK, Saal HM, Leiva-Gea A, Luna-González F, Mochizuki H, Basel D, Porco DM, Jayaram K, Fisheleva E, Huntsman-Labed A, Day JRS. Savarirayan R, et al. Genet Med. 2021 Dec;23(12):2443-2447. doi: 10.1038/s41436-021-01287-7. Epub 2021 Aug 2. Genet Med. 2021. PMID: 34341520 Free PMC article. Clinical Trial.
Health Supervision for People With Achondroplasia.
Hoover-Fong J, Scott CI, Jones MC; COMMITTEE ON GENETICS. Hoover-Fong J, et al. Pediatrics. 2020 Jun;145(6):e20201010. doi: 10.1542/peds.2020-1010. Pediatrics. 2020. PMID: 32457214 Review.
Nosology and classification of genetic skeletal disorders: 2019 revision.
Mortier GR, Cohn DH, Cormier-Daire V, Hall C, Krakow D, Mundlos S, Nishimura G, Robertson S, Sangiorgi L, Savarirayan R, Sillence D, Superti-Furga A, Unger S, Warman ML. Mortier GR, et al. Am J Med Genet A. 2019 Dec;179(12):2393-2419. doi: 10.1002/ajmg.a.61366. Epub 2019 Oct 21. Am J Med Genet A. 2019. PMID: 31633310
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
Achondroplasia: a comprehensive clinical review.
Pauli RM. Pauli RM. Orphanet J Rare Dis. 2019 Jan 3;14(1):1. doi: 10.1186/s13023-018-0972-6. Orphanet J Rare Dis. 2019. PMID: 30606190 Free PMC article. Review.
Acanthosis nigricans in achondroplasia.
Smid CJ, Modaff P, Alade A, Legare JM, Pauli RM. Smid CJ, et al. Am J Med Genet A. 2018 Dec;176(12):2630-2636. doi: 10.1002/ajmg.a.40506. Epub 2018 Oct 31. Am J Med Genet A. 2018. PMID: 30380187
99 results