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1911 3
1912 2
1913 3
1914 2
1915 1
1919 1
1920 1
1924 1
1926 1
1928 1
1930 1
1932 2
1933 5
1940 1
1945 5
1946 4
1947 2
1948 3
1949 8
1950 5
1951 11
1952 8
1953 7
1954 6
1955 10
1956 16
1957 12
1958 6
1959 7
1960 3
1961 12
1962 11
1963 16
1964 29
1965 21
1966 14
1967 28
1968 23
1969 28
1970 39
1971 29
1972 41
1973 21
1974 50
1975 32
1976 36
1977 40
1978 30
1979 27
1980 29
1981 23
1982 22
1983 38
1984 36
1985 44
1986 41
1987 35
1988 101
1989 40
1990 44
1991 47
1992 29
1993 43
1994 34
1995 59
1996 65
1997 52
1998 62
1999 55
2000 57
2001 57
2002 50
2003 57
2004 49
2005 52
2006 63
2007 67
2008 73
2009 55
2010 61
2011 67
2012 75
2013 68
2014 71
2015 79
2016 83
2017 103
2018 80
2019 88
2020 91
2021 134
2022 104
2023 121
2024 122
2025 8

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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: 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 …
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 …
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 …
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 …
Novel therapeutic approaches for the treatment of achondroplasia.
Legeai-Mallet L, Savarirayan R. Legeai-Mallet L, et al. Bone. 2020 Dec;141:115579. doi: 10.1016/j.bone.2020.115579. Epub 2020 Aug 11. Bone. 2020. PMID: 32795681 Free article. Review.
Achondroplasia is the most common form of human dwarfism. The molecular basis of achondroplasia was elucidated in 1994 with the identification of the fibroblast growth factor receptor 3 (FGFR3) as the causative gene. ...This review provides a brief overview of the p …
Achondroplasia is the most common form of human dwarfism. The molecular basis of achondroplasia was elucidated in 1994 with th …
New treatments for children with achondroplasia.
Savarirayan R, Hoover-Fong J, Yap P, Fredwall SO. Savarirayan R, et al. Lancet Child Adolesc Health. 2024 Apr;8(4):301-310. doi: 10.1016/S2352-4642(23)00310-3. Lancet Child Adolesc Health. 2024. PMID: 38485412 Review.
In this Review, we outline the clinical and genetic hallmarks of achondroplasia and related FGFR3 conditions, the natural history and impact of achondroplasia over a patient's lifespan, and diagnosis and management options. ...These new options are changing the natu …
In this Review, we outline the clinical and genetic hallmarks of achondroplasia and related FGFR3 conditions, the natural history and …
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 …
Achondroplasia.
Pereira E. Pereira E. Pediatr Rev. 2019 Jun;40(6):316-318. doi: 10.1542/pir.2018-0009. Pediatr Rev. 2019. PMID: 31152107 No abstract available.
Achondroplasia.
Baujat G, Legeai-Mallet L, Finidori G, Cormier-Daire V, Le Merrer M. Baujat G, et al. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):3-18. doi: 10.1016/j.berh.2007.12.008. Best Pract Res Clin Rheumatol. 2008. PMID: 18328977 Review.
Achondroplasia (MIM 100800) is the most common non-lethal skeletal dysplasia. Its incidence is between one in 10,000 and one in 30,000. ...
Achondroplasia (MIM 100800) is the most common non-lethal skeletal dysplasia. Its incidence is between one in 10,000 and one in 30,00 …
3,294 results

Searches related to "achondroplasia"