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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. ...Autosomal dominant variants include mutations of the collagen oligomeric matrix protein, collagen type IX alpha-1, coll
Multiple epiphyseal dysplasia is a genotypically and phenotypically heterogeneous disorder affecting the epiphysis
Sulphate in pregnancy.
Dawson PA, Elliott A, Bowling FG. Dawson PA, et al. Nutrients. 2015 Mar 4;7(3):1594-606. doi: 10.3390/nu7031594. Nutrients. 2015. PMID: 25746011 Free PMC article. Review.
In humans, reduced sulphonation capacity has been linked to skeletal dysplasias, ranging from the mildest form, multiple epiphyseal dysplasia, to achondrogenesis Type IB, which results in severe skeletal underdevelopment and death in utero or shortly a …
In humans, reduced sulphonation capacity has been linked to skeletal dysplasias, ranging from the mildest form, multiple ep
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. The disease spectrum ranges from mild MED, which manifests with pain and stiffness in t …
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) constitute a bone dysplasia family, which i …
Multiple epiphyseal dysplasia and related disorders: Molecular genetics, disease mechanisms, and therapeutic avenues.
Dennis EP, Greenhalgh-Maychell PL, Briggs MD. Dennis EP, et al. Dev Dyn. 2021 Mar;250(3):345-359. doi: 10.1002/dvdy.221. Epub 2020 Jul 18. Dev Dyn. 2021. PMID: 32633442 Free article. Review.
There are more than 450 unique phenotypes that, although individually rare, have an overall prevalence of at least 1 per 4000 children. Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous disorder characterized by disproportionat …
There are more than 450 unique phenotypes that, although individually rare, have an overall prevalence of at least 1 per 4000 children. M
Sulfate in fetal development.
Dawson PA. Dawson PA. Semin Cell Dev Biol. 2011 Aug;22(6):653-9. doi: 10.1016/j.semcdb.2011.03.004. Epub 2011 Mar 17. Semin Cell Dev Biol. 2011. PMID: 21419855 Review.
Sulfate enters and exits placental and fetal cells via transporters on the plasma membrane, which maintain a sufficient intracellular supply of sulfate and its universal sulfonate donor 3'-phosphoadenosine 5'-phosphosulfate (PAPS) for sulfate conjugation (sulfonation) reac …
Sulfate enters and exits placental and fetal cells via transporters on the plasma membrane, which maintain a sufficient intracellular supply …
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.
This overview covers the group of disorders that presents radiographically as multiple epiphyseal dysplasia (MED). The disorders include "classic MED" (Ribbing and Fairbank types): MED that is caused by mutations in the cartilage oligomeric matrix protein (CO …
This overview covers the group of disorders that presents radiographically as multiple epiphyseal dysplasia (MED). The …
The matrilins: modulators of extracellular matrix assembly.
Klatt AR, Becker AK, Neacsu CD, Paulsson M, Wagener R. Klatt AR, et al. Int J Biochem Cell Biol. 2011 Mar;43(3):320-30. doi: 10.1016/j.biocel.2010.12.010. Epub 2010 Dec 14. Int J Biochem Cell Biol. 2011. PMID: 21163365 Review.
In man, dominant mutations in the von Willebrand factor A like domain of matrilin-3 lead to a protein retention in the endoplasmic reticulum that causes multiple epiphyseal dysplasia by initiating a cell stress response. In contrast, a mutation in an E …
In man, dominant mutations in the von Willebrand factor A like domain of matrilin-3 lead to a protein retention in the endoplasmic re …
Model systems for studying skeletal dysplasias caused by TSP-5/COMP mutations.
Posey KL, Yang Y, Veerisetty AC, Sharan SK, Hecht JT. Posey KL, et al. Cell Mol Life Sci. 2008 Mar;65(5):687-99. doi: 10.1007/s00018-007-7485-0. Cell Mol Life Sci. 2008. PMID: 18193163 Free PMC article. Review.
TSP-5 is of interest because mutations in the gene cause two skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED/EDM1). Both PSACH and EDM1 have a characteristic chondrocyte phenotype distinguished by giant rough en …
TSP-5 is of interest because mutations in the gene cause two skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple
Genetic and molecular aspects of acromelic dysplasia.
Le Goff C, Cormier-Daire V. Le Goff C, et al. Pediatr Endocrinol Rev. 2009 Mar;6(3):418-23. Pediatr Endocrinol Rev. 2009. PMID: 19396027 Review.
The acromelic dysplasia group includes three rare disorders: Weill-Marchesani syndrome (WMS), Geleophysic dysplasia (GD) and Acromicric dysplasia (AD) all characterized by short stature, short hands and stiff joints. ...Indeed, in addition to the diagnostic c …
The acromelic dysplasia group includes three rare disorders: Weill-Marchesani syndrome (WMS), Geleophysic dysplasia (GD) and A …
Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature.
Mégarbané A, Ghanem I, Le Merrer M. Mégarbané A, et al. Am J Med Genet A. 2003 Oct 15;122A(3):252-6. doi: 10.1002/ajmg.a.20262. Am J Med Genet A. 2003. PMID: 12966527 Review.
Radiographs disclosed mainly the presence of thoracic scoliosis, narrow interpedicular distances, metaphyseal vertical striations, very small irregular epiphyses, right hip dislocation, luxation of both elbows, and severe delay of ossification of the epiphyses and t …
Radiographs disclosed mainly the presence of thoracic scoliosis, narrow interpedicular distances, metaphyseal vertical striations, very smal …
17 results