Search Results - "Saikali, Amanda"

Murine models of HRAS-mediated cutaneous skeletal hypophosphatemia syndrome suggest bone as the FGF23 excess source by Ovejero, Diana, Michel, Zachary, Cataisson, Christophe, Saikali, Amanda, Galisteo, Rebeca, Yuspa, Stuart H, Collins, Michael T, de Castro, Luis F

“…Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a mosaic RASopathy characterized by the association of dysplastic skeletal lesions, congenital skin nevi…”
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A Cross‐Sectional Cohort Study of the Effects of FGF23 Deficiency and Hyperphosphatemia on Dental Structures in Hyperphosphatemic Familial Tumoral Calcinosis by 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

“…ABSTRACT Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disorder caused by mutations in FGF23, GALNT3, KLOTHO, or FGF23…”
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Determination of FGF23 Levels for the Diagnosis of FGF23‐Mediated Hypophosphatemia by Hartley, Iris R., Gafni, Rachel I., Roszko, Kelly L., Brown, Sydney M., Castro, Luis F., Saikali, Amanda, Ferreira, Carlos R., Gahl, William A., Pacak, Karel, Blau, Jenny E., Boyce, Alison M., Salusky, Isidro B., Collins, Michael T., Florenzano, Pablo

“…ABSTRACT Fibroblast growth factor‐23 (FGF23) measurement is a critical tool in the evaluation of patients with disordered phosphate homeostasis. Available…”
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Long Bone Fractures in Fibrous Dysplasia/McCune‐Albright Syndrome: Prevalence, Natural History, and Risk Factors by Geels, Raya E.S., Meier, Maartje E., Saikali, Amanda, Tsonaka, Roula, Appelman‐Dijkstra, Natasha M., Boyce, Alison M.

“…ABSTRACT Fibrous dysplasia/McCune‐Albright syndrome (FD/MAS) is a rare bone and endocrine disorder arising along a broad spectrum. Long‐bone fractures are a…”
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