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

Year Number of Results
1883 1
1885 1
1887 3
1893 1
1894 1
1903 1
1904 2
1905 1
1907 1
1908 1
1909 2
1910 1
1911 1
1913 1
1914 4
1915 3
1916 1
1917 2
1918 1
1920 1
1921 3
1922 1
1923 1
1924 3
1925 2
1926 3
1927 3
1928 3
1929 7
1930 8
1931 5
1932 4
1933 8
1934 10
1935 5
1936 6
1937 6
1938 2
1939 10
1940 5
1941 2
1942 4
1943 6
1944 5
1945 40
1946 144
1947 120
1948 163
1949 139
1950 233
1951 288
1952 327
1953 357
1954 328
1955 388
1956 361
1957 388
1958 367
1959 392
1960 373
1961 396
1962 455
1963 484
1964 565
1965 563
1966 561
1967 664
1968 698
1969 771
1970 816
1971 849
1972 896
1973 952
1974 1017
1975 1790
1976 1880
1977 1921
1978 2014
1979 2125
1980 2159
1981 2471
1982 2612
1983 2865
1984 3131
1985 3279
1986 3438
1987 3497
1988 3856
1989 4254
1990 4362
1991 4332
1992 4466
1993 4920
1994 5822
1995 7506
1996 8115
1997 8320
1998 9098
1999 9125
2000 10018
2001 9987
2002 10599
2003 11152
2004 11571
2005 12626
2006 12981
2007 13647
2008 14193
2009 14920
2010 15709
2011 16568
2012 17896
2013 18443
2014 19138
2015 19721
2016 18979
2017 18962
2018 19759
2019 20043
2020 21670
2021 22948
2022 21750
2023 20892
2024 8076

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472,592 results

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Page 1
IMAGe Syndrome.
Schrier Vergano SA, Deardorff MA. Schrier Vergano SA, et al. 2014 Mar 13 [updated 2021 Aug 5]. 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. 2014 Mar 13 [updated 2021 Aug 5]. 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: 24624461 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: IMAGe syndrome is an acronym for the major findings of intrauterine growth restriction (IUGR), metaphyseal dysplasia, adrenal hypoplasia congenita, and genitourinary abnormalities (in males). Findings reported in individuals with a clinical …
CLINICAL CHARACTERISTICS: IMAGe syndrome is an acronym for the major findings of intrauterine growth restriction (IUGR), metaphyseal …
Hypochondroplasia.
Bober MB, Bellus GA, Nikkel SM, Tiller GE. Bober MB, et al. 1999 Jul 15 [updated 2020 May 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. 1999 Jul 15 [updated 2020 May 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: 20301650 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Hypochondroplasia is a skeletal dysplasia characterized by short stature; stocky build; disproportionately short arms and legs; broad, short hands and feet; mild joint laxity; and macrocephaly. ...If an affected individual's partner also ha …
CLINICAL CHARACTERISTICS: Hypochondroplasia is a skeletal dysplasia characterized by short stature; stocky build; disproportio …
Spondylo-epi-metaphyseal dysplasia.
Cormier-Daire V. Cormier-Daire V. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):33-44. doi: 10.1016/j.berh.2007.12.009. Best Pract Res Clin Rheumatol. 2008. PMID: 18328979 Review.
The spondylo-epi-metaphyseal dysplasias (SEMD) are a heterogeneous group of disorders comprising more than 20 distinct entities with differing modes of inheritance, all defined by the combination of vertebral, epiphyseal and metaphyseal abnormalities. ...The complic …
The spondylo-epi-metaphyseal dysplasias (SEMD) are a heterogeneous group of disorders comprising more than 20 distinct entities with …
Bone Scan.
Adams C, Banks KP. Adams C, et al. 2023 Aug 14. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Aug 14. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 30285381 Free Books & Documents.
Skeletal scintigraphy, commonly referred to as a bone scan (BS), is a valuable and versatile nuclear medicine tool. ...Thus, increased radiotracer uptake occurs with multiple pathologic processes such as fractures, infection, malignant disease and less commonly encountered …
Skeletal scintigraphy, commonly referred to as a bone scan (BS), is a valuable and versatile nuclear medicine tool. ...Thus, increase …
MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.
Bonafé L, Liang J, Gorna MW, Zhang Q, Ha-Vinh R, Campos-Xavier AB, Unger S, Beckmann JS, Le Béchec A, Stevenson B, Giedion A, Liu X, Superti-Furga G, Wang W, Spahr A, Superti-Furga A. Bonafé L, et al. Am J Med Genet A. 2014 May;164A(5):1175-9. doi: 10.1002/ajmg.a.36431. Epub 2014 Mar 19. Am J Med Genet A. 2014. PMID: 24648384
Metaphyseal dysplasia, Spahr type (MDST; OMIM 250400) was described in 1961 based on the observation of four children in one family who had rickets-like metaphyseal changes but normal blood chemistry and moderate short stature. ...Dominant MMP13 …
Metaphyseal dysplasia, Spahr type (MDST; OMIM 250400) was described in 1961 based on the observation of four children i …
RUNX2-related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling SFRP4-related Pyle disease.
Hordyjewska-Kowalczyk E, Wuyts W, Boeckx N, Verdonck A, Hendrickx G, Mortier G. Hordyjewska-Kowalczyk E, et al. Clin Genet. 2024 Apr;105(4):434-439. doi: 10.1111/cge.14474. Epub 2023 Dec 18. Clin Genet. 2024. PMID: 38108099 Review.
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly (MDMHB) is an ultra-rare skeletal dysplasia caused by heterozygous intragenic RUNX2 duplications, comprising either exons 3 to 5 or exons 3 to 6 of RUNX2. In this study, we d …
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly (MDMHB) is an ultra-rare skeletal dysp …
EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity.
Bhavani GS, Singh S, Girisha KM. Bhavani GS, et al. 2023 May 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. 2023 May 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: 37229238 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity (EXOC6B-SEMD-JL) is characterized by multiple joint dislocations, joint laxity, genu valgum, short stature, and skeletal dysplasia. ...Radiographic manifestations incl …
CLINICAL CHARACTERISTICS: EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity (EXOC6B-SEMD-JL) is characterized by mult …
Improving the rate of inferior vena cava filter retrieval through multidisciplinary engagement.
Stevens H, Bortz H, Chao S, Ramanan R, Clements W, Peter K, McFadyen JD, Tran H. Stevens H, et al. Res Pract Thromb Haemost. 2023 Jan 7;7(1):100040. doi: 10.1016/j.rpth.2023.100040. eCollection 2023 Jan. Res Pract Thromb Haemost. 2023. PMID: 36852111 Free PMC article.
RESULTS: Overall, 453 patients were included, with 272 individuals in the pre-MDST cohort and 181 individuals in the post-MDST cohort. The MDST was associated with a higher composite primary outcome of IVC filter retrieval or a documented filter plan from 79. …
RESULTS: Overall, 453 patients were included, with 272 individuals in the pre-MDST cohort and 181 individuals in the post-MDST …
Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders.
Mäkitie O, Vakkilainen S. Mäkitie O, et al. 2012 Mar 15 [updated 2023 May 11]. 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 Mar 15 [updated 2023 May 11]. 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: 22420014 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: The cartilage-hair hypoplasia - anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic …
CLINICAL CHARACTERISTICS: The cartilage-hair hypoplasia - anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includ …
New perspectives on the treatment of skeletal dysplasia.
Marzin P, Cormier-Daire V. Marzin P, et al. Ther Adv Endocrinol Metab. 2020 Mar 3;11:2042018820904016. doi: 10.1177/2042018820904016. eCollection 2020. Ther Adv Endocrinol Metab. 2020. PMID: 32166011 Free PMC article. Review.
Indeed, several therapeutic strategies are currently being investigated in osteogenesis imperfecta; there are ongoing clinical trials based on pharmacological approaches, targeting signaling pathways in achondroplasia and fibrodysplasia ossificans progressiva or the endoplasmic r …
Indeed, several therapeutic strategies are currently being investigated in osteogenesis imperfecta; there are ongoing clinical trials based …
472,592 results
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