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Current Opinion in Allergy and Clinical Immunology|November 8, 2006
Osteopetroses and immunodeficiencies in humansAnna Villa, Paolo Vezzoni, Annalisa FrattiniCell Cycle (Georgetown, Tex.)|January 19, 2008
The Dissection of Human Autosomal Recessive Osteopetrosis Identifies an Osteoclast-Poor Form due to RANKL DeficiencyAnnalisa Frattini, Paolo Vezzoni, Anna Villa, et al.Cytotechnology|November 13, 2008
Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantationAnna Villa, Alessandra Pangrazio, Elena Caldana, et al.Cancer Genetics and Cytogenetics|May 30, 2002
Heterogeneous gene distribution reflects human genome complexity as detected at the cytogenetic levelAntonio Musio, Tullio Mariani, Paolo Vezzoni, et al.Calcified Tissue International|August 1, 2012
A homozygous contiguous gene deletion in chromosome 16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patientAlessandra Pangrazio, Annalisa Frattini, Roberto Valli, et al.Human Mutation|August 10, 2004
TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNALucia Susani, Alessandra Pangrazio, Cristina Sobacchi, et al.Human Mutation|September 9, 2006
RAG-dependent primary immunodeficienciesCristina Sobacchi, Veronica Marrella, Francesca Rucci, et al.The Journal of Clinical Investigation|March 18, 2010
Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombinationChrystelle Couëdel, Christopher Roman, Alison Jones, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|July 4, 2006
Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvementAlessandra Pangrazio, Pietro Luigi Poliani, André Megarbane, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 20, 2005
Polymorphisms of the CLCN7 gene are associated with BMD in womenUlrika Pettersson, Omar M E Albagha, Max Mirolo, et al.Pageof 23