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Stem Cell Research|December 4, 2019
Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 geneGaetana Lanzi, Rosalba Monica Ferraro, Stefania Masneri, et al.Clinical Immunology (Orlando, Fla.)|June 21, 2005
Omenn's syndrome occurring in patients without mutations in recombination activating genesAndrew R Gennery, Elizabeth Hodges, Anthony P Williams, et al.Clinical & Developmental Immunology|June 14, 2013
RANKL cytokine: from pioneer of the osteoimmunology era to cure for a rare diseaseNadia Lo Iacono, Alessandra Pangrazio, Mario Abinun, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|July 29, 2016
Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human OsteopetrosisEleonora Palagano, Lucia Susani, Ciro Menale, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|February 19, 2014
As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 geneCristina Sobacchi, Alessandra Pangrazio, Antonio González-Meneses Lopez, et al.Bone|August 10, 2020
Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiencyMarco Ritelli, Eleonora Palagano, Valeria Cinquina, et al.Hepatology (Baltimore, Md.)|November 7, 2017
B lymphocytes limit senescence-driven fibrosis resolution and favor hepatocarcinogenesis in mouse liver injuryFrancesca Faggioli, Eleonora Palagano, Luca Di Tommaso, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|August 22, 2008
Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patientsAlessandra Pangrazio, Maria Elena Caldana, Cristina Sobacchi, et al.Journal of Biomedical Optics|January 5, 2011
Noninvasive assessment of breast cancer risk using time-resolved diffuse optical spectroscopyPaola Taroni, Antonio Pifferi, Giovanna Quarto, et al.Clinical Immunology (Orlando, Fla.)|June 19, 2007
GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genesIram J Haq, Laura J Steinberg, Manfred Hoenig, et al.Pageof 17