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

Year Number of Results
1946 3
1947 6
1948 9
1949 9
1950 13
1951 18
1952 12
1953 14
1954 20
1955 25
1956 22
1957 19
1958 15
1959 12
1960 9
1961 29
1962 23
1963 33
1964 53
1965 46
1966 34
1967 60
1968 61
1969 43
1970 32
1971 43
1972 57
1973 31
1974 48
1975 53
1976 53
1977 48
1978 50
1979 45
1980 29
1981 49
1982 44
1983 35
1984 39
1985 56
1986 39
1987 36
1988 44
1989 49
1990 41
1991 43
1992 26
1993 46
1994 40
1995 39
1996 32
1997 39
1998 56
1999 40
2000 47
2001 57
2002 35
2003 40
2004 25
2005 65
2006 32
2007 42
2008 53
2009 52
2010 61
2011 89
2012 92
2013 93
2014 88
2015 107
2016 89
2017 75
2018 90
2019 99
2020 104
2021 100
2022 91
2023 63
2024 27

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3,376 results

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Page 1
Congenital malformations.
Corsello G, Giuffrè M. Corsello G, et al. J Matern Fetal Neonatal Med. 2012 Apr;25 Suppl 1:25-9. doi: 10.3109/14767058.2012.664943. Epub 2012 Mar 14. J Matern Fetal Neonatal Med. 2012. PMID: 22356564 Free article. Review.
Congenital malformations are single or multiple defects of the morphogenesis of organs or body districts identifiable at birth or during the intrauterine life. ...Both genetic and environmental factors, as well as their combination in a multifactorial contest, may induce …
Congenital malformations are single or multiple defects of the morphogenesis of organs or body districts identifiable at birth or dur …
Spondyloepiphyseal dysplasia congenita.
Turner LM, Steffensen TS, Leroy J, Gilbert-Barness E. Turner LM, et al. Fetal Pediatr Pathol. 2010;29(1):57-62. doi: 10.3109/15513810903266310. Fetal Pediatr Pathol. 2010. PMID: 20055564
We report a case of spondyloepiphyseal dysplasia congenita (SED congenita), diagnosed at autopsy of a term infant. ...
We report a case of spondyloepiphyseal dysplasia congenita (SED congenita), diagnosed at autopsy of a term infant. ...
[Spondyloepiphyseal dysplasia congenita].
Nishimura G. Nishimura G. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):688-9. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11528966 Review. Japanese. No abstract available.
[Spondyloepiphyseal and metaphyseal dysplasia].
Wirth T. Wirth T. Orthopade. 2008 Jan;37(1):8-16. doi: 10.1007/s00132-007-1179-z. Orthopade. 2008. PMID: 18210084 Review. German.
Spondyloepiphyseal, metaphyseal and spondylometaphyseal dysplasias are a group of hereditary skeletal diseases, which lead to small stature, axial deformities of the lower extremities and spinal deformities. ...Among the spinal deformities there are instabilities of the up …
Spondyloepiphyseal, metaphyseal and spondylometaphyseal dysplasias are a group of hereditary skeletal diseases, which lead to small s …
Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families.
Liu L, Pang Q, Jiang Y, Li M, Wang O, Xia W. Liu L, et al. Eur Spine J. 2016 Sep;25(9):2967-74. doi: 10.1007/s00586-016-4559-4. Epub 2016 Apr 8. Eur Spine J. 2016. PMID: 27059630 Review.
PURPOSE: To present three identified novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita (SEDC) in three unrelated Chinese families, and perform analysis regarding the clinical and genetic features of SEDC in the Chinese population through assessme …
PURPOSE: To present three identified novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita (SEDC) in three unr …
Imaging of Congenital Skeletal Disorders.
Aparisi Gómez MP, Trisolino G, Sangiorgi L, Guglielmi G, Bazzocchi A. Aparisi Gómez MP, et al. Semin Musculoskelet Radiol. 2021 Feb;25(1):22-38. doi: 10.1055/s-0041-1723964. Epub 2021 May 21. Semin Musculoskelet Radiol. 2021. PMID: 34020466 Review.
Osteochondrodysplasias are the result of the expression of gene mutations. The phenotypes in osteochondrodysplasias evolve through life, with the possibility that previously unaffected bones may be involved at later stages of growth. ...
Osteochondrodysplasias are the result of the expression of gene mutations. The phenotypes in osteochondrodysplasias evolve thr …
Congenital hypothyroidism presenting as apparent spondyloepiphyseal dysplasia.
Eberle AJ. Eberle AJ. Am J Med Genet. 1993 Sep 15;47(4):464-7. doi: 10.1002/ajmg.1320470405. Am J Med Genet. 1993. PMID: 8256805
An 11-year-old boy with short stature, dysplastic epiphyses, and vertebral abnormalities was thought to have spondyloepiphyseal dysplasia. He was subsequently found to have epiphyseal dysplasia secondary to congenital hypothyroidism. The radiographic f …
An 11-year-old boy with short stature, dysplastic epiphyses, and vertebral abnormalities was thought to have spondyloepiphyseal dy …
Omodysplasia.
Maroteaux P, Sauvegrain J, Chrispin A, Farriaux JP. Maroteaux P, et al. Am J Med Genet. 1989 Mar;32(3):371-5. doi: 10.1002/ajmg.1320320321. Am J Med Genet. 1989. PMID: 2729357
Three cases of a new congenital bone disorder associating facial anomalies (depressed nasal bridge, broad base of the nose, long philtrum) with short humeri. ...
Three cases of a new congenital bone disorder associating facial anomalies (depressed nasal bridge, broad base of the nose, long phil …
Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis.
Rolvien T, Yorgan TA, Kornak U, Hermans-Borgmeyer I, Mundlos S, Schmidt T, Niemeier A, Schinke T, Amling M, Oheim R. Rolvien T, et al. Osteoarthritis Cartilage. 2020 Mar;28(3):334-343. doi: 10.1016/j.joca.2019.12.011. Epub 2020 Jan 17. Osteoarthritis Cartilage. 2020. PMID: 31958497 Free article.
OBJECTIVE: Spondyloepiphyseal dysplasia, a combination of progressive arthropathy with variable signs of skeletal dysplasia, can be a result of mutations in the collagen, type II, alpha 1 (COL2A1) gene. ...RESULTS: We identified a dominant COL2A1 mutation (c. …
OBJECTIVE: Spondyloepiphyseal dysplasia, a combination of progressive arthropathy with variable signs of skeletal dysplasia …
Spondyloepiphyseal dysplasia congenita: Use of complementary 3D reconstruction imaging for preoperative planning.
Bisht RU, Van Tassel DC, Belthur MV. Bisht RU, et al. Clin Imaging. 2022 Jun;86:94-97. doi: 10.1016/j.clinimag.2022.03.019. Epub 2022 Mar 30. Clin Imaging. 2022. PMID: 35397299
We present a case of spondyloepiphyseal dysplasia congenita (SEDC), a rare autosomal dominant genetic disorder that results in short stature and skeletal anomalies. ...
We present a case of spondyloepiphyseal dysplasia congenita (SEDC), a rare autosomal dominant genetic disorder that results in …
3,376 results