Omodysplasia, a heterogeneous osteochondrodysplasia, was first observed by Barrow and Fitzsimmons (1984), but better delineated and named by Maroteaux et al. (1989). It was only in 1991, with Borochowitz et al., that two forms were recognized: autosomal dominant and recessive. Recently, Elçioglu (2004) studied five cases of recessive Omodysplasia and made an excellent review of the literature b...

Schon seit lfingerer Zeit befasst sich die Forschergruppe, der auch der Autor angeh6rt, mit der Untersuchung der Beeinflussung yon Organellstrukturen in Hefe durch verschiedene Kulturbedingungen. Insbesondere interessieren uns die Ver~inderungen beim Ubergang von totaler Anaerobiose zu aeroben Bedingungen. Die durch entsprechende Versuchsanordnung erzielte gute Synchronisierung der Kulturen erl...

A family study was based on 184 consecutive patients who had undergone surgery for craniosynostosis at The Hospital for Sick Children, London, between 1953 and 1976. Of these, 127 were traced and visited and are the probands for this study. Crouzon syndrome was recognised in 16, Apert in 11, Saethre-Chotzen in nine, and Pfeiffer in two. In addition, two probands had Saethre-Chotzen-like facies ...

BACKGROUND Wnt5a is important for the development of various organs and postnatal cellular function. Little is known, however, about the role of Wnt5a in kidney development, although WNT5A mutations were identified in patients with Robinow syndrome, a genetic disease which includes developmental defects in kidneys. Our goal in this study was to determine the role of Wnt5a in kidney development....

The transmembrane receptor 'ROR2' resembles members of the receptor tyrosine kinase family of signalling receptors in sequence but its' signal transduction mechanisms remain enigmatic. This problem has particular importance because mutations in ROR2 are associated with two human skeletal dysmorphology syndromes, recessive Robinow Syndrome (RS) and dominant acting Brachydactyly type B (BDB). Her...

A novel method for analysing the catalytic action of a DNAzyme is reported. Resonance Raman scattering (RRS) is shown to successfully monitor the oxidation of two different peroxidase substrates and has been implemented in an assay for the detection of target DNA, providing a more sensitive method of analysis than current colorimetric techniques.

Two different forms of dyssegmental dysplasia can be distinguished; the lethal Silverman-Handmaker type and less severe Rolland-Desbuquois type. Patients with Rolland-Desbuquois type often survive beyond neonatal period. The purpose of this paper is to report a rare case of Dyssegmental dysplasia, Rolland-Desbuquois type from Pakistan.

Ror2 is a receptor tyrosine kinase mutated in the human syndromes Brachydactyly type B (BDB) and recessive Robinow syndrome (RS). In this study, we used the chick as a model to investigate the role of Ror2 in skeletogenesis and to elucidate the functional consequences of Ror2 mutations. For this purpose, we cloned chicken Ror2 and analyzed its expression pattern at various embryonic stages by i...