Tumor-induced osteomalacia

por Florenzano, Pablo, Gafni, Rachel I., Collins, Michael T.
Publicado 2017

Hyperphosphatemic Tumoral Calcinosis: Pathogenesis, Clinical Presentation, and Challenges in Management

por Boyce, Alison M., Lee, Alisa E., Roszko, Kelly L., Gafni, Rachel I.
Publicado 2020

Atypical Fragility Fractures due to Bony or Soft Tissue Phosphaturic Mesenchymal Tumors: A Report of Two Cases

por Clegg, Stephanie M., Eiel, Emily S., Fine, Sara, Gafni, Rachel I., Most, Mathew J.
Publicado 2023

Autosomal Dominant Hypocalcemia Type 1: A Systematic Review

por Roszko, Kelly L, Stapleton Smith, Lyndsay M, Sridhar, Ananth V, Roberts, Mary Scott, Hartley, Iris R, Gafni, Rachel I, Collins, Michael T, Fox, Jonathan C, Nemeth, Edward F
Publicado 2022

Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy – Genotypic Overlap with Pseudoxanthoma Elasticum

por Li, Qiaoli, Brodsky, Jill L., Conlin, Laura K., Pawel, Bruce, Glatz, Andrew C., Gafni, Rachel I., Schurgers, Leon, Uitto, Jouni, Hakonarson, Hakon, Deardorff, Matthew A., Levine, Michael A.
Publicado 2013

Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI)

por Theng, Elizabeth H., Brewer, Carmen C., Oheim, Ralf, Zalewski, Christopher K., King, Kelly A., Delsmann, Maximillian M., Rolvien, Tim, Gafni, Rachel I., Braddock, Demetrios T., Jeffrey Kim, H., Ferreira, Carlos R.
Publicado 2022

A Cross‐Sectional Cohort Study of the Effects of FGF23 Deficiency and Hyperphosphatemia on Dental Structures in Hyperphosphatemic Familial Tumoral Calcinosis

por Lee, Alisa E, Chu, Emily Y, Gardner, Pamela J, Duverger, Olivier, Saikali, Amanda, Wang, Sean K, Gafni, Rachel I, Hartley, Iris R, Ten Hagen, Kelly G, Somerman, Martha J, Collins, Michael T
Publicado 2021

Infigratinib Reduces Fibroblast Growth Factor 23 (FGF23) and Increases Blood Phosphate in Tumor‐Induced Osteomalacia

por Hartley, Iris R., Roszko, Kelly L., Li, Xiaobai, Pozo, Karen, Streit, Jamie, del Rivero, Jaydira, Magone, M. Teresa, Smith, Michaele R., Vold, Roo, Dambkowski, Carl L., Collins, Michael T., Gafni, Rachel I.
Publicado 2022

Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies

por Ferreira, Carlos R, Kintzinger, Kristina, Hackbarth, Mary E, Botschen, Ulrike, Nitschke, Yvonne, Mughal, M Zulf, Baujat, Genevieve, Schnabel, Dirk, Yuen, Eric, Gahl, William A, Gafni, Rachel I, Liu, Qing, Huertas, Pedro, Khursigara, Gus, Rutsch, Frank
Publicado 2021

Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome

por Albert, Jessica S, Bhattacharyya, Nisan, Wolfe, Lynne A, Bone, William P, Maduro, Valerie, Accardi, John, Adams, David R, Schwartz, Charles E, Norris, Joy, Wood, Tim, Gafni, Rachel I, Collins, Michael T, Tosi, Laura L, Markello, Thomas C, Gahl, William A, Boerkoel, Cornelius F
Publicado 2015

Prospective phenotyping of long-term survivors of Generalized Arterial Calcification of Infancy (GACI)

por Ferreira, Carlos R., Hackbarth, Mary E., Ziegler, Shira G., Pan, Kristen S., Roberts, Mary S., Rosing, Douglas R., Whelpley, Margaret S., Bryant, Joy C., Macnamara, Ellen F., Wang, Sisi, Müller, Kerstin, Hartley, Iris R., Chew, Emily Y., Corden, Timothy E., Jacobsen, Christina M., Holm, Ingrid A., Rutsch, Frank, Dikoglu, Esra, Chen, Marcus Y., Mughal, M. Zulf, Levine, Michael A., Gafni, Rachel I., Gahl, William A.
Publicado 2020