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Year Number of Results
1954 1
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1974 3
1975 1
1976 1
1977 2
1978 1
1979 3
1981 3
1982 2
1983 3
1985 1
1986 1
1987 1
1988 1
1989 5
1991 2
1992 1
1993 4
1994 1
1995 3
1996 2
1997 3
1998 5
1999 3
2000 5
2001 3
2002 9
2003 8
2004 4
2005 4
2006 7
2007 6
2008 14
2009 5
2010 7
2011 11
2012 8
2013 4
2014 10
2015 7
2016 10
2017 4
2018 8
2019 7
2020 8
2021 9
2022 10
2023 6
2024 0

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206 results

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Page 1
Multiple epiphyseal dysplasia.
Anthony S, Munk R, Skakun W, Masini M. Anthony S, et al. J Am Acad Orthop Surg. 2015 Mar;23(3):164-72. doi: 10.5435/JAAOS-D-13-00173. Epub 2015 Feb 9. J Am Acad Orthop Surg. 2015. PMID: 25667404 Review.
Multiple epiphyseal dysplasia is a genotypically and phenotypically heterogeneous disorder affecting the epiphysis of long bones. ...
Multiple epiphyseal dysplasia is a genotypically and phenotypically heterogeneous disorder affecting the epiphysis of long bon …
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 diagnosis is either based on the specificity of the skeletal manifestations or on the presence of characteristic extraskeletal features which may appear during the course of the disease, highlighting the importance of follow-up of SEMD patients. The complications are variable …
The diagnosis is either based on the specificity of the skeletal manifestations or on the presence of characteristic extraskeletal features …
Wolcott-Rallison syndrome.
Juneja A, Sultan A, Bhatnagar S. Juneja A, et al. J Indian Soc Pedod Prev Dent. 2012 Jul-Sep;30(3):250-3. doi: 10.4103/0970-4388.105019. J Indian Soc Pedod Prev Dent. 2012. PMID: 23263430
Multiple epiphyseal dysplasia with early-onset diabetes mellitus (also known as Wolcott-Rallison syndrome) is a rare autosomal recessive disorder that manifests itself in early infancy with symptoms of diabetes mellitus. ...
Multiple epiphyseal dysplasia with early-onset diabetes mellitus (also known as Wolcott-Rallison syndrome) is a rare autosomal …
Multiple epiphyseal dysplasia.
Dahlqvist J, Orlén H, Matsson H, Dahl N, Lönnerholm T, Gustavson KH. Dahlqvist J, et al. Acta Orthop. 2009 Dec;80(6):711-5. doi: 10.3109/17453670903473032. Acta Orthop. 2009. PMID: 19995321 Free PMC article.
BACKGROUND: Multiple epiphyseal dysplasia (MED) is a common genetically and clinically heterogeneous skeletal dysplasia characterized by early-onset osteoarthritis, mainly in the hip and knee, and mild-to-moderate short stature. ...
BACKGROUND: Multiple epiphyseal dysplasia (MED) is a common genetically and clinically heterogeneous skeletal dysplasia charac …
Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis.
Unger S, Bonafé L, Superti-Furga A. Unger S, et al. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):19-32. doi: 10.1016/j.berh.2007.11.009. Best Pract Res Clin Rheumatol. 2008. PMID: 18328978 Review.
Multiple epiphyseal dysplasia is one of the more common skeletal dysplasias but it can still be difficult to diagnose. ...Mutations in at least six different genes can cause multiple epiphyseal dysplasia, and it can be either dominant or recessive. Mol …
Multiple epiphyseal dysplasia is one of the more common skeletal dysplasias but it can still be difficult to diagnose. ...Muta …
Hypochondrogenesis.
Maroteaux P, Stanescu V, Stanescu R. Maroteaux P, et al. Eur J Pediatr. 1983 Oct;141(1):14-22. doi: 10.1007/BF00445662. Eur J Pediatr. 1983. PMID: 6641761
Some cases similar to case no. 3 have roentgenological signs very close to spondylo-epiphyseal dysplasia congenita and probably were confused previously with the latter. ...The evolution which seems to be always lethal in a period of several weeks or months would ma …
Some cases similar to case no. 3 have roentgenological signs very close to spondylo-epiphyseal dysplasia congenita and probabl …
Skeletal phenotype/genotype in progressive pseudorheumatoid chondrodysplasia.
Al Kaissi A, Kenis V, Jemaa LB, Sassi H, Shboul M, Grill F, Ganger R, Kircher SG. Al Kaissi A, et al. Clin Rheumatol. 2020 Feb;39(2):553-560. doi: 10.1007/s10067-019-04783-z. Epub 2019 Oct 18. Clin Rheumatol. 2020. PMID: 31628567
A constellation of abnormalities such as early senile hyperostosis of the spine (Forestier disease), osteoarthritis of the hips showed progressive diminution and irregularities of the hip joint spaces associated with progressive capital femoral epiphyseal dysplasia …
A constellation of abnormalities such as early senile hyperostosis of the spine (Forestier disease), osteoarthritis of the hips showed progr …
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.
Briggs MD, Chapman KL. Briggs MD, et al. Hum Mutat. 2002 May;19(5):465-78. doi: 10.1002/humu.10066. Hum Mutat. 2002. PMID: 11968079 Review.
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) constitute a bone dysplasia family, which is both genetically and phenotypically heterogeneous. ...
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) constitute a bone dysplasia family, which is both genetic …
Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.
Unger S, Hecht JT. Unger S, et al. Am J Med Genet. 2001 Winter;106(4):244-50. Am J Med Genet. 2001. PMID: 11891674 Review.
Pseudoachondroplasia (PSACH) (OMIM#177170) and multiple epiphyseal dysplasia (MED) are separate but overlapping osteochondrodysplasias. ...Only mutations in the cartilage oligomeric matrix protein (COMP) gene have been reported in PSACH, and all family studies have …
Pseudoachondroplasia (PSACH) (OMIM#177170) and multiple epiphyseal dysplasia (MED) are separate but overlapping osteochondrody …
206 results