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

Year Number of Results
1976 1
1981 1
1986 3
1988 1
1989 1
1990 1
1991 1
1992 1
1993 2
1994 1
1996 1
1997 1
1998 2
1999 2
2000 4
2001 1
2002 4
2003 4
2004 1
2005 3
2007 2
2008 11
2009 3
2010 4
2011 4
2012 1
2013 1
2014 6
2015 1
2016 2
2017 2
2018 4
2019 2
2020 3
2021 3
2022 1
2023 1
2024 0

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76 results

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Page 1
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 v …
The diagnosis is either based on the specificity of the skeletal manifestations or on the presence of characteristic extraskeletal features …
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.
Mutations in at least six different genes can cause multiple epiphyseal dysplasia, and it can be either dominant or recessive. Molecular diagnosis is important for accurate prognosis and genetic counselling....
Mutations in at least six different genes can cause multiple epiphyseal dysplasia, and it can be either dominant or recessive. Molecular dia …
Cartilage oligomeric matrix protein: COMPopathies and beyond.
Posey KL, Coustry F, Hecht JT. Posey KL, et al. Matrix Biol. 2018 Oct;71-72:161-173. doi: 10.1016/j.matbio.2018.02.023. Epub 2018 Mar 9. Matrix Biol. 2018. PMID: 29530484 Free PMC article. Review.
The most exciting clinical application is the use of COMP as a biomarker for idiopathic pulmonary fibrosis and cartilage degeneration associated osteoarthritis and rheumatoid and, as a prognostic marker for joint injury. The ever expanding roles of COMP in single gene diso …
The most exciting clinical application is the use of COMP as a biomarker for idiopathic pulmonary fibrosis and cartilage degeneration associ …
A scintigraphic classification of Legg-Calvé-Perthes disease.
Conway JJ. Conway JJ. Semin Nucl Med. 1993 Oct;23(4):274-95. doi: 10.1016/s0001-2998(05)80109-6. Semin Nucl Med. 1993. PMID: 8256137 Review.
The A (allright) track scintigraphic pattern represents the recanalization process, a process of short duration and good prognosis. The B (bad) track scintigraphic pattern represents the process of neovascularization, a process of long duration and poorer prognosis. …
The A (allright) track scintigraphic pattern represents the recanalization process, a process of short duration and good prognosis. T …
The role of cartilage oligomeric matrix protein (COMP) in skeletal disease.
Posey KL, Hecht JT. Posey KL, et al. Curr Drug Targets. 2008 Oct;9(10):869-77. doi: 10.2174/138945008785909293. Curr Drug Targets. 2008. PMID: 18855621 Review.
Serum cartilage oligomeric matrix protein levels are higher in aggressive cases of arthritis and levels are used to predict future disease progression. Recent studies have identified molecular functions of cartilage oligomeric matrix protein that may contribute to its role …
Serum cartilage oligomeric matrix protein levels are higher in aggressive cases of arthritis and levels are used to predict future di …
MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia.
Lachman RS, Krakow D, Cohn DH, Rimoin DL. Lachman RS, et al. Pediatr Radiol. 2005 Feb;35(2):116-23. doi: 10.1007/s00247-004-1323-4. Epub 2004 Oct 21. Pediatr Radiol. 2005. PMID: 15503005 Review.
When a specific diagnosis is made, proper genetic counseling as well as prognostication, management issues and complications can be delineated to the patient and family. ...
When a specific diagnosis is made, proper genetic counseling as well as prognostication, management issues and complications can be d …
Hybrid total hip arthroplasty for multiple epiphyseal dysplasia.
Vanlommel J, Vanlommel L, Molenaers B, Simon JP. Vanlommel J, et al. Orthop Traumatol Surg Res. 2018 May;104(3):301-305. doi: 10.1016/j.otsr.2017.11.014. Epub 2017 Dec 21. Orthop Traumatol Surg Res. 2018. PMID: 29274861 Free article.
Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature.
Boerkoel CF, O'Neill S, André JL, Benke PJ, Bogdanovíć R, Bulla M, Burguet A, Cockfield S, Cordeiro I, Ehrich JH, Fründ S, Geary DF, Ieshima A, Illies F, Joseph MW, Kaitila I, Lama G, Leheup B, Ludman MD, McLeod DR, Medeira A, Milford DV, Ormälä T, Rener-Primec Z, Santava A, Santos HG, Schmidt B, Smith GC, Spranger J, Zupancic N, Weksberg R. Boerkoel CF, et al. Eur J Pediatr. 2000 Jan-Feb;159(1-2):1-7. doi: 10.1007/s004310050001. Eur J Pediatr. 2000. PMID: 10653321
Although 25 patients have been reported with this disorder, the clinical course and phenotype of SIOD are not well characterized. This report summarizes the clinical findings, course and treatment of reported patients and includes 14 additional patients with SIOD. . …
Although 25 patients have been reported with this disorder, the clinical course and phenotype of SIOD are not well characterized. Thi …
Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias.
Briggs MD, Brock J, Ramsden SC, Bell PA. Briggs MD, et al. Eur J Hum Genet. 2014 Nov;22(11):1278-82. doi: 10.1038/ejhg.2014.30. Epub 2014 Mar 5. Eur J Hum Genet. 2014. PMID: 24595329 Free PMC article.
This newly derived genotype to phenotype correlation may aid in determining the prognosis of PSACH and MED, including the prediction of disease severity, and in the long term guide genetic counselling and contribute to the clinical management of patients with these …
This newly derived genotype to phenotype correlation may aid in determining the prognosis of PSACH and MED, including the predicti …
76 results