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

Year Number of Results
1963 1
1968 1
1969 1
1970 2
1971 1
1972 4
1974 1
1975 2
1976 1
1977 2
1978 1
1979 1
1980 1
1983 3
1984 5
1985 3
1986 1
1987 2
1988 8
1989 5
1990 6
1991 9
1992 5
1993 3
1994 4
1995 9
1996 12
1997 8
1998 3
1999 7
2000 8
2001 17
2002 5
2003 10
2004 9
2005 6
2006 4
2007 10
2008 11
2009 5
2010 9
2011 8
2012 8
2013 9
2014 12
2015 11
2016 12
2017 12
2018 11
2019 12
2020 13
2021 21
2022 16
2023 11
2024 5

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341 results

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Page 1
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.
Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). ...This review provides both an updated discussion of the care needs of those with achondroplasia and an exploration of the limits of evidence that is availa
Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). ...This review provides
Achondroplasia: Development, pathogenesis, and therapy.
Ornitz DM, Legeai-Mallet L. Ornitz DM, et al. Dev Dyn. 2017 Apr;246(4):291-309. doi: 10.1002/dvdy.24479. Epub 2017 Mar 2. Dev Dyn. 2017. PMID: 27987249 Free PMC article. Review.
Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism in humans, and related chondrodysplasia syndromes that include hypochondroplasia (Hch), severe achondroplasia with developmental …
Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarf …
Achondroplasia: Update on diagnosis, follow-up and treatment.
Leiva-Gea A, Martos Lirio MF, Barreda Bonis AC, Marín Del Barrio S, Heath KE, Marín Reina P, Guillén-Navarro E, Santos Simarro F, Riaño Galán I, Yeste Fernández D, Leiva-Gea I. Leiva-Gea A, et al. An Pediatr (Engl Ed). 2022 Dec;97(6):423.e1-423.e11. doi: 10.1016/j.anpede.2022.10.004. Epub 2022 Nov 5. An Pediatr (Engl Ed). 2022. PMID: 36347803 Free article. Review.
Achondroplasia requieres multidisciplinary follow-up, with the aim of preventing and managing complications, improving the quality of life of people who suffer from it and favoring their independence and social inclusion. ...Different guidelines and recommendations have be
Achondroplasia requieres multidisciplinary follow-up, with the aim of preventing and managing complications, improving the quality of
Burden and Treatment of Achondroplasia: A Systematic Literature Review.
Murton MC, Drane ELA, Goff-Leggett DM, Shediac R, O'Hara J, Irving M, Butt TJ. Murton MC, et al. Adv Ther. 2023 Sep;40(9):3639-3680. doi: 10.1007/s12325-023-02549-3. Epub 2023 Jun 29. Adv Ther. 2023. PMID: 37382866 Free PMC article. Review.
Included management guidelines varied widely in their scope, with the first global effort to standardise achondroplasia management represented by the International Achondroplasia Consensus Statement published at the end of 2021. Current evidence gaps include a lack …
Included management guidelines varied widely in their scope, with the first global effort to standardise achondroplasia management re …
Achondroplasia.
Horton WA, Hall JG, Hecht JT. Horton WA, et al. Lancet. 2007 Jul 14;370(9582):162-172. doi: 10.1016/S0140-6736(07)61090-3. Lancet. 2007. PMID: 17630040 Review.
Achondroplasia is the most common form of short limb dwarfism in human beings, affecting more than 250,000 individuals worldwide. ...The biology of FGFR3 and the molecular and cellular consequences of the achondroplasia mutation are being elucidated, providing a mor
Achondroplasia is the most common form of short limb dwarfism in human beings, affecting more than 250,000 individuals worldwide. ...
Advantages and Disadvantages of Different Treatment Methods in Achondroplasia: A Review.
Wrobel W, Pach E, Ben-Skowronek I. Wrobel W, et al. Int J Mol Sci. 2021 May 25;22(11):5573. doi: 10.3390/ijms22115573. Int J Mol Sci. 2021. PMID: 34070375 Free PMC article. Review.
Achondroplasia (ACH) is a disease caused by a missense mutation in the FGFR3 (fibroblast growth factor receptor 3) gene, which is the most common cause of short stature in humans. The treatment of ACH is necessary and urgent because untreated achondroplasia has many
Achondroplasia (ACH) is a disease caused by a missense mutation in the FGFR3 (fibroblast growth factor receptor 3) gene, which is the
Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.
Stembalska A, Dudarewicz L, Śmigiel R. Stembalska A, et al. Adv Clin Exp Med. 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. Adv Clin Exp Med. 2021. PMID: 34019743 Free article. Review.
Less frequent dysplasias, such as asphyxiating thoracic dystrophy, fibrochondrogenesis, atelosteogenesis, and homozygous achondroplasia, are also discussed....
Less frequent dysplasias, such as asphyxiating thoracic dystrophy, fibrochondrogenesis, atelosteogenesis, and homozygous achondroplasia
Vosoritide: First Approval.
Duggan S. Duggan S. Drugs. 2021 Nov;81(17):2057-2062. doi: 10.1007/s40265-021-01623-w. Drugs. 2021. PMID: 34694597 Review.
Vosoritide (VOXZOGO()) is a modified recombinant human C-type natriuretic peptide (CNP) analogue, being developed by BioMarin Pharmaceutical for the treatment of achondroplasia. Achondroplasia is caused by a gain-of-function mutation in the fibroblast growth factor …
Vosoritide (VOXZOGO()) is a modified recombinant human C-type natriuretic peptide (CNP) analogue, being developed by BioMarin Pharmaceutical …
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.
Achondroplasia is the most common short-stature skeletal dysplasia, additionally marked by rhizomelia, macrocephaly, midface hypoplasia, and normal cognition. ...This is the second revision to the original 1995 health supervision guidance from the American Academy of Pedia
Achondroplasia is the most common short-stature skeletal dysplasia, additionally marked by rhizomelia, macrocephaly, midface hypoplas
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.
Savarirayan R, Ireland P, Irving M, Thompson D, Alves I, Baratela WAR, Betts J, Bober MB, Boero S, Briddell J, Campbell J, Campeau PM, Carl-Innig P, Cheung MS, Cobourne M, Cormier-Daire V, Deladure-Molla M, Del Pino M, Elphick H, Fano V, Fauroux B, Gibbins J, Groves ML, Hagenäs L, Hannon T, Hoover-Fong J, Kaisermann M, Leiva-Gea A, Llerena J, Mackenzie W, Martin K, Mazzoleni F, McDonnell S, Meazzini MC, Milerad J, Mohnike K, Mortier GR, Offiah A, Ozono K, Phillips JA 3rd, Powell S, Prasad Y, Raggio C, Rosselli P, Rossiter J, Selicorni A, Sessa M, Theroux M, Thomas M, Trespedi L, Tunkel D, Wallis C, Wright M, Yasui N, Fredwall SO. Savarirayan R, et al. Nat Rev Endocrinol. 2022 Mar;18(3):173-189. doi: 10.1038/s41574-021-00595-x. Epub 2021 Nov 26. Nat Rev Endocrinol. 2022. PMID: 34837063 Free article. Review.
Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functional and psychosocial challenges across the lifespan. ...The primary purpose of this first International Consensus Statement is to facilitate the improvement and standardiza
Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functional and psychosocial challenges
341 results