Results 81 to 90 of about 1,547 (171)

Genetic disorders of the skeleton: a developmental approach

, 2003
Although disorders of the skeleton are individually rare, they are of clinical relevance because of their overall frequency. Many attempts have been made in the past to identify disease groups in order to facilitate diagnosis and to draw conclusions ...
Kornak, Uwe, Mundlos, Stefan
core   +1 more source

Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene

, 2003
Dyggve-Melchior-Clausen dysplasia (DMC) and Smith-McCort dysplasia (SMC) are similar, rare autosomal recessive osteochondrodysplasias. The radiographic features and cartilage histology in DMC and SMC are identical.
Rimoin, David L., Reinker, Kent, Powell, Berkley R., Sheila Unger, Unger, Sheila, Nadia Ehtesham, Kent Reinker, Berkley R. Powell, Shanske, Alan, Deborah Krakow, Ehtesham, Nadia, Daniel H. Cohn, Alan Shanske, David L. Rimoin, Cohn, Daniel H., Krakow, Deborah   +15 more
core   +1 more source

Clinical Epidemiology Of Skeletal Dysplasias In South America

, 2015
Currently accepted birth prevalence for osteochondrodysplasias (OCD) of about 2/10,000 is based on few studies from small series of cases. We conducted a study based on more than 1.5 million births. OCD cases were detected from 1,544,496 births occurring
Castilla E.E., da Graca Dutra M., Cavalcanti D.P., Barbosa-Buck C.O., Lopez-Camelo J., Orioli I.M.   +5 more
core   +1 more source

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia multiple epiphyseal dysplasia disease spectrum

, 1998
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are autosomal dominant osteochondrodysplasias that result in mild to severe short-limb dwarfism and early-onset osteoarthrosis.
Golik, Steven S, King, Lily M., Briggs, Michael D, De Paepe, Anne, Lachman, Ralph S, Wilcox, William R., Briggs, Michael D., Mortier, Geert, Cole, William G., Bonaventure, Jacky, Nuytinck, Lieve, Lipson, Mark, King, Lily M, Knowlton, Robert G, Rimoin, David L, Cohn, Daniel H, Cohn, Daniel H., Rimoin, David L., Leroy, Jules G., Golik, Steven S., Cole, Willam G, Leroy, Juliaan, Lachman, Ralph S., Biesecker, Leslie, Knowlton, Robert G., Wilcox, William R, Mortier, Geert R.   +26 more
core   +1 more source

PPAR-g Regulatory Networks in Bone Metabolism And Mineralization [PDF]

, 2015
__Abstract__ Bone is a highly dynamic tissue that is permanently remodeled as an intrinsic mechanism to regenerate bone during life, to accomplish longitudinal growth, and to generate new bone during fracture repair.
Bruedigam, Claudia, Bruedigam, C. (Claudia)   +1 more
core  

Osteochondrodysplasias

, 2013
Yasemin Alanay, David L. Rimoin
core   +1 more source

Osteochondroplasias (Osteochondrodysplasias)

, 2004

core   +1 more source

From wheelchair to walking: first reported case in Saudi Arabia of transformative orthopedic surgery in a patient with spondyloepimetaphyseal dysplasia with joint laxity type 3 due to EXOC6B mutation-a case report. [PDF]

J Med Case Rep
Alqawlaq AK, Almoshawar HH, Saddiq BB, ElZayyat E, Felemban F.   +4 more
europepmc   +1 more source

Clinical and genetic profiles of 985 Chinese families with skeletal dysplasia. [PDF]

Chin Med J (Engl), 2023
Li S, Lyu S, Fu W, Hu Y, Yue H, Chen L, Zhang Z.   +6 more
europepmc   +1 more source

Osteochondrodysplasia [PDF]

, 2020
openaire   +1 more source