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Results for
""Hyperostosis, Cortical, Congenital""[mesh_terms]

11 Results

Searching titles within these results

Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.

Heidi Schigt, Martin Bald, Bram C J van der Eerden, Lars Gal, Barnabas P Ilenwabor, Martin Konrad, Michael A Levine, Dong Li, Christoph J Mache, Sharon Mackin, Colin Perry, Francisco J Rios, Karl Peter Schlingmann, Ben Storey, Christine M Trapp, Annemieke J M H Verkerk, M Carola Zillikens, Rhian M Touyz, Ewout J Hoorn, Joost G J Hoenderop, Jeroen H F de Baaij

The Journal of clinical endocrinology and metabolism 2023;108(9):e754-e768

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

Rachel I Gafni, Kelly L Roszko, Alisa E Lee, Alison M Boyce

Frontiers in endocrinology 2021;11():293

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Congenital Hyperphosphatemic Conditions Caused by the Deficient Activity of FGF23.

Nobuaki Ito, Seiji Fukumoto

Calcified tissue international 2021;108(1):104-115

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Caffey disease: new perspectives on old questions.

Harikiran Nistala, Outi Mäkitie, Harald Jüppner

Bone 2014;60():246-51

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Development and Validation of a Simple Diagnostic Method to Detect Gain and Loss of Function Defects in Fibroblast Growth Factor-23.

Ahmad R Ramadan, Said M Shawar, Manal A Alghamdi

Hormone research in paediatrics 2017;86(1):45-52

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

Mary Scott Ramnitz, Pravitt Gourh, Raphaela Goldbach-Mansky, Felasfa Wodajo, Shoji Ichikawa, Michael J Econs, Kenneth E White, Alfredo Molinolo, Marcus Y Chen, Theo Heller, Jaydira Del Rivero, Patricia Seo-Mayer, Bita Arabshahi, Malaka B Jackson, Sarah Hatab, Edward McCarthy, Lori C Guthrie, Beth A Brillante, Rachel I Gafni, Michael T Collins

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2017;31(10):1845-1854

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Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action.

Lisal J Folsom, Erik A Imel

Current osteoporosis reports 2016;13(2):78-87

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Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature.

M Collins, G El Hajj Fuleihan, S Ichikawa, M Hourani, A Berberi, A Abchee, N Shabb, G Nemer, N Khoury, M S Ramnitz, M Chakhtoura

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2019;29(9):1987-2009

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Severe vascular calcification and tumoral calcinosis in a family with hyperphosphatemia: a fibroblast growth factor 23 mutation identified by exome sequencing.

Parag Mehtani, Anuja Shah, Clinton J Miller, Cynthia C Nast, Mark D Adams, Barbara Truitt, John A Tayek, Lili Tong, Francisco Monteon, John R Sedor, Erica L Clinkenbeard, Kenneth White, Rajnish Mehrotra, Janine LaPage, Patricia Dickson, Sharon G Adler, Sudha K Iyengar

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2015;29(12):2235-43

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Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.

Yvonne Nitschke, Frank Rutsch

Current osteoporosis reports 2018;15(4):255-270

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Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature.

Silje Rafaelsen, Stefan Johansson, Helge Ræder, Robert Bjerknes

BMC genetics 2015;15():98

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Results for ""Hyperostosis, Cortical, Congenital""[mesh_terms]

Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.

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

Congenital Hyperphosphatemic Conditions Caused by the Deficient Activity of FGF23.

Caffey disease: new perspectives on old questions.

Development and Validation of a Simple Diagnostic Method to Detect Gain and Loss of Function Defects in Fibroblast Growth Factor-23.

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

Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action.

Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature.

Severe vascular calcification and tumoral calcinosis in a family with hyperphosphatemia: a fibroblast growth factor 23 mutation identified by exome sequencing.

Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.

Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature.

Results for
""Hyperostosis, Cortical, Congenital""[mesh_terms]