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

Year Number of Results
1984 1
1987 1
1989 1
1990 1
1993 1
1996 2
1997 1
2001 1
2002 1
2003 1
2004 1
2005 1
2008 5
2012 1
2014 2
2015 1
2017 1
2018 1
2024 0

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24 results

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Page 1
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 genetically an
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.
While, COMP is known to play a role in collagen secretion and fibrillogenesis, chondrocyte proliferation and mechanical strength of tendons, the complete range of COMP functions remains to be defined. COMPopathies describe pseudoachondroplasia (PSACH) and multiple epiphyse …
While, COMP is known to play a role in collagen secretion and fibrillogenesis, chondrocyte proliferation and mechanical strength of tendons, …
Novel therapeutic interventions for pseudoachondroplasia.
Posey KL, Hecht JT. Posey KL, et al. Bone. 2017 Sep;102:60-68. doi: 10.1016/j.bone.2017.03.045. Epub 2017 Mar 21. Bone. 2017. PMID: 28336490 Free PMC article. Review.
Pseudoachondroplasia (PSACH), a severe short-limbed dwarfing condition, is associated with life-long joint pain and early onset osteoarthritis. ...
Pseudoachondroplasia (PSACH), a severe short-limbed dwarfing condition, is associated with life-long joint pain and early onset osteo
Spinal deformity in short-stature syndromes.
Tolo VT. Tolo VT. Instr Course Lect. 1990;39:399-405. Instr Course Lect. 1990. PMID: 2186130 Review.
The most common deformity found in skeletal dysplasias as a whole seems to be kyphosis: cervical kyphosis in diastrophic dysplasia and thoracolumbar kyphosis in achondroplasia, pseudoachondroplasia, and many of the short-stature syndromes of metabolic etiology. ...
The most common deformity found in skeletal dysplasias as a whole seems to be kyphosis: cervical kyphosis in diastrophic dysplasia and thora …
Pathogenic mechanisms in osteochondrodysplasias.
Stanescu V, Stanescu R, Maroteaux P. Stanescu V, et al. J Bone Joint Surg Am. 1984 Jul;66(6):817-36. doi: 10.2106/00004623-198466060-00002. J Bone Joint Surg Am. 1984. PMID: 6376516 Review.
The combined morphological and biochemical studies revealed specific abnormalities suggestive of a particular biochemical defect in several chondrodysplasias. In pseudoachondroplasia, non-collagenous protein accumulated in the rough endoplasmic reticulum of chondrocytes an …
The combined morphological and biochemical studies revealed specific abnormalities suggestive of a particular biochemical defect in several …
Review of cervical spine anomalies in genetic syndromes.
McKay SD, Al-Omari A, Tomlinson LA, Dormans JP. McKay SD, et al. Spine (Phila Pa 1976). 2012 Mar 1;37(5):E269-77. doi: 10.1097/BRS.0b013e31823b3ded. Spine (Phila Pa 1976). 2012. PMID: 22045003 Review.
Next, the upper cervical abnormalities seen in Down syndrome, 22q11.2 Deletion syndrome, pseudoachondroplasia, Morquio syndrome, Goldenhar syndrome, spondyloepiphyseal dysplasia congenita, and Kniest dysplasia. ...Nearly 100% of patients with 22q11.2 deletion syndrome have …
Next, the upper cervical abnormalities seen in Down syndrome, 22q11.2 Deletion syndrome, pseudoachondroplasia, Morquio syndrome, Gold …
Role of TSP-5/COMP in pseudoachondroplasia.
Posey KL, Hayes E, Haynes R, Hecht JT. Posey KL, et al. Int J Biochem Cell Biol. 2004 Jun;36(6):1005-12. doi: 10.1016/j.biocel.2004.01.011. Int J Biochem Cell Biol. 2004. PMID: 15094116 Review.
Pseudoachondroplasia (PSACH) is a well-characterized dwarfing condition associated with disproportionate short stature, abnormal joints and osteoarthritis requiring joint replacement. ...
Pseudoachondroplasia (PSACH) is a well-characterized dwarfing condition associated with disproportionate short stature, abnormal join
Pseudoachondroplastic dysplasia.
Khungar A, Mahajan P, Gupte G, Vasundhara M, Kher A, Bharucha BA. Khungar A, et al. J Postgrad Med. 1993 Apr-Jun;39(2):91-3. J Postgrad Med. 1993. PMID: 8169872 Free article. Review.
Pseudoachondroplasia is a heterogeneous inherited skeletal dysplasia in which dwarfism is a major feature. ...
Pseudoachondroplasia is a heterogeneous inherited skeletal dysplasia in which dwarfism is a major feature. ...
Pseudoachondroplasia/COMP - translating from the bench to the bedside.
Posey KL, Alcorn JL, Hecht JT. Posey KL, et al. Matrix Biol. 2014 Jul;37:167-73. doi: 10.1016/j.matbio.2014.05.006. Epub 2014 Jun 2. Matrix Biol. 2014. PMID: 24892720 Free PMC article. Review.
Pseudoachondroplasia (PSACH) is a skeletal dysplasia characterized by disproportionate short stature, small hands and feet, abnormal joints and early onset osteoarthritis. ...
Pseudoachondroplasia (PSACH) is a skeletal dysplasia characterized by disproportionate short stature, small hands and feet, abnormal
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. ...
Pseudoachondroplasia (PSACH) (OMIM#177170) and multiple epiphyseal dysplasia (MED) are separate but overlapping osteochondrodysplasia
24 results