R. Gafni

发表

Effects of estrogen on growth plate senescence and epiphyseal fusion

J. Baron, M. Weise, S. De-Levi, 2001, Proceedings of the National Academy of Sciences of the United States of America.

Genetic Causes of Hypoparathyroidism

M. Levine, R. Gafni, 2005 .

Childhood Bone Mass Acquisition and Peak Bone Mass May Not Be Important Determinants of Bone Mass in Late Adulthood

J. Baron, R. Gafni, 2007, Pediatrics.

The Hypocalcemic Disorders

R. Gafni, K. Insogna, T. Carpenter, 2018 .

Nephropathic Cystinosis: A Distinct Form of CKD-Mineral and Bone Disorder that Provides Novel Insights into the Regulation of FGF23.

M. Wolf, W. Gahl, C. Ferreira, 2020, Journal of the American Society of Nephrology : JASN.

Ultrasound is superior to computed tomography for assessment of medullary nephrocalcinosis in hypoparathyroidism.

P. Choyke, T. Shawker, N. Yovetich, 2013, The Journal of clinical endocrinology and metabolism.

Bone mineral content in patients with congenital generalized lipodystrophy is unaffected by metreleptin replacement therapy.

K. Rother, P. Gorden, Rebecca J. Brown, 2014, The Journal of clinical endocrinology and metabolism.

Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis‐Hyperphosphatemia Syndrome

K. White, M. Econs, Marcus Y. Chen, 2016, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Daily parathyroid hormone 1‐34 replacement therapy for hypoparathyroidism induces marked changes in bone turnover and structure

Hua Zhou, N. Bhattacharyya, P. Andreopoulou, 2012, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Mechanisms responsible for longitudinal growth of the cortex: coalescence of trabecular bone into cortical bone.

J. Baron, E. McCarthy, K. Barnes, 2003, The Journal of bone and joint surgery. American volume.

Recovery from osteoporosis through skeletal growth: early bone mass acquisition has little effect on adult bone density

J. Baron, N. Inoue, E. McCarthy, 2002, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Effects of denosumab treatment and discontinuation on human growth plates.

A. Molinolo, M. Collins, R. Gafni, 2014, The Journal of clinical endocrinology and metabolism.

Denosumab treatment for fibrous dysplasia

N. Bhattacharyya, A. Molinolo, M. Collins, 2012, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Tumor-Induced Osteomalacia

M. Collins, R. Gafni, P. Florenzano, 2020, Calcified Tissue International.

Tumor-induced osteomalacia.

A. Molinolo, Clara C. Chen, M. Collins, 2011, Endocrine-related cancer.

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

C. Brewer, D. Braddock, C. Zalewski, 2022, Orphanet Journal of Rare Diseases.

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

R. Gafni, A. Boyce, K. Roszko, 2020, Frontiers in Endocrinology.

Fibroblast growth factor 23: state of the field and future directions

N. Bhattacharyya, M. Collins, R. Gafni, 2012, Trends in Endocrinology & Metabolism.

Targeted FGFR Blockade for the Treatment of Tumor-Induced Osteomalacia.

Carole B. Miller, M. Collins, G. Papadakis, 2020, The New England journal of medicine.

Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies

E. Farrow, M. Econs, M. Collins, 2018, The Journal of clinical investigation.

Autoimmune Hypoparathyroidism

R. Gafni, K. Roszko, 2019, Hypoparathyroidism.

Hyperphosphatemic Familial Tumoral Calcinosis Hidden in Plain Sight for 73 Years: A Case Report

M. Collins, R. Gafni, C. Vanek, 2021, Frontiers in Dental Medicine.

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

M. Somerman, M. Collins, E. Chu, 2021, JBMR plus.

Nighttime salivary cortisol measurement as a simple, noninvasive, outpatient screening test for Cushing's syndrome in children and adolescents.

D. Papanicolaou, L. Nieman, R. Gafni, 2000, The Journal of pediatrics.

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

W. Gahl, C. Ferreira, G. Khursigara, 2021, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approach to Management

C. Ferreira, R. Gafni, A. Boyce, 2020, Current Osteoporosis Reports.

A Subtrochanteric Femoral Stress Fracture following Bisphosphonate Treatment in an Adolescent Girl

M. Collins, L. Tosi, R. Gafni, 2015, Hormone Research in Paediatrics.

Hypoparathyroidism

R. Gafni, Michael T. Collins, Michael T Collins, 2019, The New England journal of medicine.

Rare Bone Diseases and Their Dental, Oral, and Craniofacial Manifestations

M. Somerman, B. Foster, R. Gafni, 2014, Journal of dental research.

1,25‐Dihydroxyvitamin D as Monotherapy for XLH: Back to the Future?

M. Collins, R. Gafni, D. Ovejero, 2016, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Stability and degradation of fibroblast growth factor 23 (FGF23): the effect of time and temperature and assay type

P. Andreopoulou, B. Brillante, N. Fedarko, 2016, Osteoporosis International.

Treatment of Autosomal Dominant Hypocalcemia Type 1 With the Calcilytic NPSP795 (SHP635)

J. Gelb, D. Ward, D. Riccardi, 2019, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Mechanism of FGF23 processing in fibrous dysplasia

M. Cho, G. Hager, M. Wiench, 2012, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Activation of RANK/RANKL/OPG Pathway Is Involved in the Pathophysiology of Fibrous Dysplasia and Associated With Disease Burden

N. Bhattacharyya, A. Molinolo, M. Collins, 2018, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Hypoparathyroidism: Genetics and Diagnosis

G. Guyatt, M. Brandi, F. Giusti, 2022, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Hypocitraturia Is an Untoward Side Effect of Synthetic Human Parathyroid Hormone (hPTH) 1‐34 Therapy in Hypoparathyroidism That May Increase Renal Morbidity

N. Yovetich, M. Collins, C. Langman, 2018, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.

S. Mane, R. Lifton, C. Tifft, 2014, Human molecular genetics.

Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment

K. Choate, L. Tosi, E. McCarthy, 2016, Osteoporosis International.

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

H. Hakonarson, J. Uitto, L. Schurgers, 2013, The Journal of investigative dermatology.

Skeletal Consequences of Nephropathic Cystinosis

W. Gahl, C. Ferreira, D. Bulas, 2018, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Decreased bone mineral density with off-label use of tenofovir in children and adolescents infected with human immunodeficiency virus.

S. Zeichner, J. Reynolds, R. Hazra, 2008, The Journal of pediatrics.

Tenofovir Disoproxil Fumarate and an Optimized Background Regimen of Antiretroviral Agents as Salvage Therapy: Impact on Bone Mineral Density in HIV-Infected Children

S. Zeichner, F. Maldarelli, B. Kearney, 2006, Pediatrics.

Anisomastia associated with interstitial duplication of chromosome 16, mental retardation, obesity, dysmorphic facies, and digital anomalies: molecular mapping of a new syndrome by fluorescent in situ hybridization and microsatellites to 16q13 (D16S419-D16S503).

C. Stratakis, R. Gafni, A. Lafferty, 2000, The Journal of clinical endocrinology and metabolism.

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

V. Maduro, C. Schwartz, D. Adams, 2015, Orphanet Journal of Rare Diseases.

Hypercalcemia due to Milk-Alkali Syndrome and Fracture-Induced Immobilization in an Adolescent Boy with Hypoparathyroidism

R. Gafni, R. Henry, 2016, Hormone Research in Paediatrics.

The role of the resting zone in growth plate chondrogenesis.

Ola Nilsson, J. Baron, K. Barnes, 2002, Endocrinology.

Catch-Up Growth Is Associated with Delayed Senescence of the Growth Plate in Rabbits

J. Baron, K. Barnes, M. Weise, 2001, Pediatric Research.

Overdiagnosis of osteoporosis in children due to misinterpretation of dual-energy x-ray absorptiometry (DEXA).

J. Baron, R. Gafni, Jeffrey Baron, 2004, The Journal of pediatrics.

Hypoparathyroidism in the adult: Epidemiology, diagnosis, pathophysiology, target‐organ involvement, treatment, and challenges for future research

L. Rejnmark, L. Mosekilde, M. Rubin, 2011, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Tenofovir Disoproxil Fumarate and an Optimized Background Regimen of Antiretroviral Agents as Salvage Therapy for Pediatric HIV Infection

S. Steinberg, F. Balis, S. Zeichner, 2005, Pediatrics.

Octreotide Is Ineffective in Treating Tumor‐Induced Osteomalacia: Results of a Short‐Term Therapy

B. Brillante, R. Gafni, D. Ovejero, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Autosomal Dominant Hypocalcemia Type 1: A Systematic Review

R. Gafni, E. Nemeth, M. Collins, 2022, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Determination of FGF23 Levels for the Diagnosis of FGF23‐Mediated Hypophosphatemia

W. Gahl, C. Ferreira, K. Pacak, 2022, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

Xiaobai Li, R. Gafni, C. Dambkowski, 2022, JBMR plus.

Multimodality Image‐Guided Cryoablation for Inoperable Tumor‐Induced Osteomalacia

E. Levy, Sheng Xu, B. Wood, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Tumor localization and biochemical response to cure in tumor‐induced osteomalacia

A. Dwyer, G. Kletter, N. Bhattacharyya, 2013, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Catch-up growth: possible mechanisms

J. Baron, R. Gafni, 2000, Pediatric Nephrology.

Long-term outcomes of letrozole treatment for precocious puberty in girls with McCune-Albright syndrome.

A. Estrada, M. Collins, B. Brillante, 2016, European journal of endocrinology.

Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu‐Cheney Syndrome

F. Rauch, B. Clarke, M. Samuels, 2017, The Journal of clinical endocrinology and metabolism.

Mutations in NOTCH2 in patients with Hajdu–Cheney syndrome

P. Robey, R. Gafni, M. Seton, 2013, Osteoporosis International.

Hypercementosis Associated with ENPP1 Mutations and GACI

W. Gahl, C. Ferreira, M. Somerman, 2018, Journal of dental research.

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

Ellen F. Macnamara, E. Chew, E. Dikoglu, 2020, Genetics in Medicine.

Hyperphosphatemic Familial Tumoral Calcinosis

M. Collins, R. Gafni, M. S. Ramnitz, 2020, Definitions.

Bone Matrix Mineralization in Patients With Gain‐of‐Function Calcium‐Sensing Receptor Mutations Is Distinctly Different From that in Postsurgical Hypoparathyroidism

D. Dempster, Hua Zhou, M. Collins, 2019, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Transient Increased Calcium and Calcitriol Requirements After Discontinuation of Human Synthetic Parathyroid Hormone 1‐34 (hPTH 1‐34) Replacement Therapy in Hypoparathyroidism

M. Kelly, R. Gafni, R. James, 2015, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Approach to the child with fractures.

R. Gafni, A. Boyce, 2011, The Journal of clinical endocrinology and metabolism.

PTH and FGF23 Exert Interdependent Effects on Renal Phosphate Handling: Evidence From Patients With Hypoparathyroidism and Hyperphosphatemic Familial Tumoral Calcinosis Treated With Synthetic Human PTH 1–34

M. Collins, Xiaobai Li, R. Gafni, 2021, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Bone densitometry in children and adolescents

A. Estrada, R. Gafni, M. S. Ramnitz, 2014, Current opinion in obstetrics & gynecology.

Ocular Adverse Effects of Infigratinib, a New FGFR Tyrosine Kinase Inhibitor.

E. FitzGibbon, M. Collins, R. Bishop, 2020, Ophthalmology.

Tumor-induced osteomalacia

A. Molinolo, Clara C. Chen, M. Collins, 2017, Bone reports.

Treatment of Autosomal Dominant Hypocalcemia Type 1 with the Calcilytic NPSP795 21 (SHP635) 22

D. Ward, M. Schepelmann, B. Brillante, 2022 .

Tenofovir Disoproxil Fumarate and an Optimized Background Regimen of Antiretroviral Agents as Salvage Therapy for Pediatric HIV Infection

S. Steinberg, F. Balis, S. Zeichner, 2005, Pediatrics.

Mechanism of FGF23 processing in fibrous dysplasia

G. Hager, M. Wiench, N. Bhattacharyya, 2012, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Tumor-induced osteomalacia

M. Collins, R. Gafni, P. Florenzano, 2017, Bone Reports.

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

R. Gafni, Mathew J. Most, S. Fine, 2023, Case reports in orthopedics.