Results 81 to 90 of about 1,394 (123)
ONMR: an orthopedic and nutritional Mendelian randomization database. [PDF]
NPJ Sci FoodChen Z +6 more
europepmc +1 more source
SOFT syndrome with kohlschutter-Tonz syndrome.
J Postgrad MedMondkar SA +3 more
europepmc +1 more source
Some of the next articles are maybe not open access.
Related searches:
Related searches:
Blomstrand lethal osteochondrodysplasia
American Journal of Medical Genetics, 1996We present the clinical, roentgenographic, and histologic abnormalities in a stillborn infant with Blomstrand osteochondrodysplasia. Parental consanguinity and multiplex occurrence in the patients' sibship confirm the hypothesis of autosomal recessive inheritance of this monogenic lethal entity.
Leroy, Jules G. +4 more
openaire +3 more sources
Mucopolysaccharides in osteochondrodysplasias
Clinical Genetics, 1979Mucopolysaccharide (MPS) metabolism in cultured skin fibroblasts was studied in one case of each of the following osteochondrodysplasias: chondrodysplasia punctata of the rhizomelic type, thanatophoric dysplasia, campomelic dysplasia, and osteogenesis imperfecta congenita.
G L, Francis, E, Feng, O M, Rennert
openaire +2 more sources
The Lethal Osteochondrodysplasias
1990Achondrogenesis was first described in 1936 by Parenti (1936). Lethal cases of osteogenesis imperfecta have been known since Vrolik’s (1849) description. Achondroplasia (formerly chondrodystrophy) was the only other diagnosis for all other dwarfed newborns until thanatophoric dysplasia was recognized as a separate entity (Maroteaux et al., 1967).
J, Spranger, P, Maroteaux
openaire +2 more sources
Osteochondrodysplasia in Fryns Syndrome
Archives of Pediatrics & Adolescent Medicine, 1991Various skeletal abnormalities have been identified in roentgenograms of persons with Fryns syndrome, but to our knowledge, no histopathologic description of bone or cartilage has been published. We describe disordered endochondral and intramembranous bone formation in a premature female infant with Fryns syndrome.
M M, Kershisnik +4 more
openaire +2 more sources
Osteochondrodysplasia in Scottish Fold cats
Australian Veterinary Journal, 1999ObjectiveTo better characterise the bone and joint problems which can develop in Scottish Fold cats.DesignRetrospective study of cases seen in five veterinary clinics and radiographic survey of cats in a cattery.ResultsSix Scottish Fold cats (four castrated males, two spayed females) aged between 5 months and 6 years were presented for signs of ...
R, Malik +6 more
openaire +2 more sources
Osteochondrodysplasias in South Africa
American Journal of Medical Genetics, 1996Jürgen Spranger's visit to the University of Cape Town in 1974 provided impetus for the establishment of a bone dysplasia registry. By 1996 more than 2,500 affected persons had been documented and radiographs and DNA had been obtained in many instances.
openaire +2 more sources
Congenital hypertrichosis, cardiomegaly and mild osteochondrodysplasia
American Journal of Medical Genetics, 1996We report on a boy with congenital hypertrichosis, cardiomegaly and a mild osteochondrodysplasia, a rare syndrome of which there is only one previous report [Cantú et al., Hum Genet 60:36-41, 1982]. In all, five patients now are known to have this syndrome (2 females, 3 males).
N C, Nevin, H C, Mulholland, P S, Thomas
openaire +2 more sources
Pathogenic mechanisms in osteochondrodysplasias.
The Journal of Bone & Joint Surgery, 1984We performed histochemical, immunohistochemical, electron-microscopic, and microchemical studies on cartilage growth plates from sixty-eight patients with nineteen different forms of human osteochondrodysplasia. Cartilage biopsies were obtained during orthopaedic procedures. Postmortem specimens were obtained within a short time after death.
V, Stanescu, R, Stanescu, P, Maroteaux
openaire +2 more sources