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Page 1
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.
In addition, sulfonation of proteoglycans is important for maintaining normal structure and development of tissues, as shown for reduced sulfonation of cartilage proteoglycans that leads to developmental dwarfism disorders and four different osteochondrodysplasias (diastrophic …
In addition, sulfonation of proteoglycans is important for maintaining normal structure and development of tissues, as shown for reduced sul …
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 …
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 …
The utility of mouse models to provide information regarding the pathomolecular mechanisms in human genetic skeletal diseases: The emerging role of endoplasmic reticulum stress (Review).
Briggs MD, Bell PA, Pirog KA. Briggs MD, et al. Int J Mol Med. 2015 Jun;35(6):1483-92. doi: 10.3892/ijmm.2015.2158. Epub 2015 Mar 30. Int J Mol Med. 2015. PMID: 25824717 Free PMC article. Review.
This review focused on a disease spectrum resulting from mutations in the non-collagenous glycoproteins, cartilage oligomeric matrix protein (COMP) and matrilin-3, which together cause a continuum of phenotypes that are amongst the most common autosomal dominant GSDs. Pseudoachon …
This review focused on a disease spectrum resulting from mutations in the non-collagenous glycoproteins, cartilage oligomeric matrix protein …
Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: a variant of Lowry-Wood syndrome?
Yamamoto T, Tohyama J, Koeda T, Maegaki Y, Takahashi Y. Yamamoto T, et al. Am J Med Genet. 1995 Mar 13;56(1):6-9. doi: 10.1002/ajmg.1320560103. Am J Med Genet. 1995. PMID: 7747786 Review.
We report on a boy with multiple epiphyseal dysplasia (MED), mild short stature, small head, mental retardation and congenital nystagmus associated with other visual problems. ...
We report on a boy with multiple epiphyseal dysplasia (MED), mild short stature, small head, mental retardation and con …
Double patella syndrome with a form of multiple epiphyseal dysplasia.
Yochum TR, Sprowl CG, Barry MS. Yochum TR, et al. J Manipulative Physiol Ther. 1995 Jul-Aug;18(6):407-10. J Manipulative Physiol Ther. 1995. PMID: 7595113 Review.
OBJECTIVE: To present an interesting and unusual case of double patella syndrome in a patient with multiple epiphyseal dysplasia. The pertinent clinical and radiographic findings and a brief review of the literature are discussed. ...
OBJECTIVE: To present an interesting and unusual case of double patella syndrome in a patient with multiple epiphyseal dysp …