Osteopetrose

None () Recent progress in the molecular genetics of sclerosing bone dysplasias.

Kocher MS et al. (2003) Osteopetrosis.

None (2003) Osteoclast diseases.

Teitelbaum SL et al. (2003) Genetic regulation of osteoclast development and function.

Kasow KA et al. (2004) Malignant infantile osteopetrosis and primary pulmonary hypertension: a new combination?

Mohn A et al. (2004) Autosomal malignant osteopetrosis. From diagnosis to therapy.

Susani L et al. (2004) TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA.

Shah GN et al. (2004) Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation.

Chu K et al. (2005) Analysis of variation in expression of autosomal dominant osteopetrosis type 2: searching for modifier genes.

Schmitz G et al. (2006) Pharmacogenomics of cholesterol-lowering therapy.

Kornak U et al. (2006) Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II.

Pangrazio A et al. (2006) Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement.

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