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Altered growth and function of synoviocytes, the intimal cells which line joint cavities and tendon sheaths, occur in a number of skeletal diseases. Hyperplasia of synoviocytes is found in both rheumatoid arthritis and osteoarthritis, despite differences in the underlying aetiologies of the two disorders. We have studied the autosomal recessive disorder(More)
During the last few years, it has been demonstrated that some syndromic craniosynostosis and short-limb dwarfism syndromes, a heterogeneous group comprising of 11 distinct clinical entities, are caused by mutations in one of three fibroblast growth factor receptor genes (FGFR1, FGFR2, and FGFR3). The present review list all mutations described to date in(More)
Twenty-eight families with a clinical diagnosis of Treacher Collins syndrome were screened for mutations in the 25 coding exons of TCOF1 and their adjacent splice junctions through SSCP and direct sequencing. Pathogenic mutations were detected in 26 patients, yielding the highest detection rate reported so far for this disease (93%) and bringing the number(More)
Phenotypic analyses of genetic combinations involving the gene extramacrochaetae (emc) reveal its participation in the differentiation of both sensory elements and wing veins. The study of near-amorphic alleles of emc in mitotitc recombination clones indicates that it also affects cell proliferation. These clones show abnormal sizes, shapes and spatial(More)
INTRODUCTION Epidemiological studies have suggested an association between unilateral posterior crossbite (UPXB) and temporomandibular joint disc displacement. The purpose of this prospective study was to investigate articular disc positioning and its configuration in children with functional UPXB malocclusions and their counterparts with normal occlusions(More)
OBJECTIVE In the last two decades, advances in the computerized tomography (CT) field revise the internal and medium ear evaluation. Therefore, the aim of this study is to analyze the morphology and morphometric aspects of the vestibular aqueduct on the basis of computerized tomography images (CTI). MATERIAL AND METHOD Computerized tomography images of(More)
Dominant mutations in three fibroblast growth factor receptor genes (FGFRs1-3) cause Crouzon, Jackson-Weiss, Pfeiffer, and Apert syndromes. In the present study, 50 Brazilian patients with these four syndromes (27 Apert, 17 Crouzon, 5 Pfeiffer, and 1 Jackson-Weiss patients) were screened for mutations in the FGFR1-3 genes. Except for one, all the Apert(More)
T HIS WORK was designed to show the effects of long term dietary restriction on the body composition of obese mice. The animals used were the obese mutants discovered by Ingalls, Dickie and Snell (I), which have since been the subject of extensive studies by Mayer and his colleagues (reviewed in ref. 2). The major anatomical characteristic of the obese(More)
Carpenter syndrome is a pleiotropic disorder with autosomal recessive inheritance, the cardinal features of which include craniosynostosis, polysyndactyly, obesity, and cardiac defects. Using homozygosity mapping, we found linkage to chromosome 6p12.1-q12 and, in 15 independent families, identified five different mutations (four truncating and one missense)(More)