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Results by year

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

Year Number of Results
1952 2
1953 4
1954 4
1955 5
1956 6
1957 7
1958 1
1959 4
1960 2
1961 5
1962 4
1964 2
1965 2
1966 1
1968 4
1969 3
1971 1
1972 3
1973 1
1974 2
1975 3
1976 3
1978 4
1979 4
1980 3
1982 1
1983 4
1984 2
1985 6
1986 3
1987 2
1988 5
1989 2
1990 1
1993 3
1995 3
1996 1
1997 3
1998 10
1999 4
2000 10
2001 8
2002 3
2003 7
2004 12
2005 7
2006 9
2007 17
2008 10
2009 13
2010 18
2011 17
2012 20
2013 14
2014 13
2015 8
2016 13
2017 9
2018 11
2019 13
2020 12
2021 11
2022 11
2023 12
2024 4

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Article type

Publication date

Search Results

372 results

Results by year

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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. Among authors: mortier gr. 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.
Stickler Syndrome.
Mortier G. Mortier G. 2000 Jun 9 [updated 2023 Sep 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Jun 9 [updated 2023 Sep 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301479 Free Books & Documents. Review.
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. Among authors: mortier gr. 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.
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
Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.
Laurent MR, De Schepper J, Trouet D, Godefroid N, Boros E, Heinrichs C, Bravenboer B, Velkeniers B, Lammens J, Harvengt P, Cavalier E, Kaux JF, Lombet J, De Waele K, Verroken C, van Hoeck K, Mortier GR, Levtchenko E, Vande Walle J. Laurent MR, et al. Among authors: mortier gr. Front Endocrinol (Lausanne). 2021 Mar 19;12:641543. doi: 10.3389/fendo.2021.641543. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 33815294 Free PMC article. Review.
Camurati-Engelmann Disease.
Van Hul W, Boudin E, Vanhoenacker FM, Mortier G. Van Hul W, et al. Among authors: mortier g. Calcif Tissue Int. 2019 May;104(5):554-560. doi: 10.1007/s00223-019-00532-1. Epub 2019 Feb 5. Calcif Tissue Int. 2019. PMID: 30721323 Review.
X-Linked Hypophosphatemia.
Laurent MR, Harvengt P, Mortier GR, Böckenhauer D. Laurent MR, et al. Among authors: mortier gr. 2012 Feb 9 [updated 2023 Dec 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2012 Feb 9 [updated 2023 Dec 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 22319799 Free Books & Documents. Review.
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.
Sommen M, Schrauwen I, Vandeweyer G, Boeckx N, Corneveaux JJ, van den Ende J, Boudewyns A, De Leenheer E, Janssens S, Claes K, Verstreken M, Strenzke N, Predöhl F, Wuyts W, Mortier G, Bitner-Glindzicz M, Moser T, Coucke P, Huentelman MJ, Van Camp G. Sommen M, et al. Among authors: mortier g. Hum Mutat. 2016 Aug;37(8):812-9. doi: 10.1002/humu.22999. Epub 2016 May 6. Hum Mutat. 2016. PMID: 27068579
Human Genetics of Sclerosing Bone Disorders.
De Ridder R, Boudin E, Mortier G, Van Hul W. De Ridder R, et al. Among authors: mortier g. Curr Osteoporos Rep. 2018 Jun;16(3):256-268. doi: 10.1007/s11914-018-0439-7. Curr Osteoporos Rep. 2018. PMID: 29656376 Review.
Multiple Epiphyseal Dysplasia, Autosomal Dominant.
Briggs MD, Wright MJ, Mortier GR. Briggs MD, et al. Among authors: mortier gr. 2003 Jan 8 [updated 2019 Apr 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 Jan 8 [updated 2019 Apr 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301302 Free Books & Documents. Review.
372 results