PMC Articles for MedGen (Select 892817) - PMC

Select item 108892211.

Insights into Hyperparathyroidism–Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of CDC73 Gene and Parafibromin-Deficient Tumours

Ana-Maria Gheorghe, Oana-Claudia Sima, Alexandru Florin Florescu, Adrian Ciuche, Claudiu Nistor, Florica Sandru, Mara Carsote

Int J Mol Sci. 2024 Feb; 25(4): 2301. Published online 2024 Feb 15. doi: 10.3390/ijms25042301

PMCID:: PMC10889221

Abstract Article PDF–761K

Select item 105562762.

DNA methylation profile discriminates sporadic giant cell granulomas of the jaws and cherubism from their giant cell‐rich histological mimics

Letícia Martins Guimarães, Daniel Baumhoer, Vanghelita Andrei, Dennis Friedel, Christian Koelsche, Ricardo Santiago Gomez, Andreas von Deimling, Carolina Cavalieri Gomes

J Pathol Clin Res. 2023 Nov; 9(6): 464–474. Published online 2023 Aug 9. doi: 10.1002/cjp2.337

PMCID:: PMC10556276

Abstract Article PDF–1.1M

Select item 95347963.

Oestrogen receptor expression distinguishes non-ossifying fibroma from other giant cell containing bone tumours

Arjen H. G. Cleven, Willem H. Schreuder, Eline Groen, Jan de Lange, Inge H. Briaire-de Bruijn, Judith V. M. G. Bovée

Virchows Arch. 2022; 481(4): 671–675. Published online 2022 May 25. doi: 10.1007/s00428-022-03341-4

PMCID:: PMC9534796

Abstract Article PDF–781K

Select item 95087074.

A two-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family: clinical presentations, pathological characteristics and genetic analysis: a case report

Dun Yang, Jiaoyun Zheng, Fei Tang, Qiongzhi He, Hui Huang, Peng Zhou

Diagn Pathol. 2022; 17: 71. Published online 2022 Sep 24. doi: 10.1186/s13000-022-01248-x

PMCID:: PMC9508707

Abstract Article PDF–2.3M

Select item 82420745.

Copy number alteration profiling facilitates differential diagnosis between ossifying fibroma and fibrous dysplasia of the jaws

Ming Ma, Lu Liu, Ruirui Shi, Jianyun Zhang, Xiaotian Li, Xuefen Li, Jiaying Bai, Jianbin Wang, Yanyi Huang, Tiejun Li

Int J Oral Sci. 2021; 13: 21. Published online 2021 Jun 30. doi: 10.1038/s41368-021-00127-3

PMCID:: PMC8242074

Abstract Article PDF–5.1M

Select item 81933416.

Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey

REINHARD E. FRIEDRICH, JOZEF ZUSTIN, ANDREAS M. LUEBKE, THORSTEN ROSENBAUM, MARTIN GOSAU, CHRISTIAN HAGEL, FELIX K. KOHLRUSCH, ILSE WIELAND, MARTIN ZENKER

In Vivo. 2021 May-Jun; 35(3): 1711–1736. Published online 2021 May 3. doi: 10.21873/invivo.12431

PMCID:: PMC8193341

Abstract Article PDF–12M

Select item 80100057.

Review of Pediatric Head and Neck Neoplasms that Raise the Possibility of a Cancer Predisposition Syndrome

Nahir Cortes-Santiago, Kalyani Patel

Head Neck Pathol. 2021 Mar; 15(1): 16–24. Published online 2021 Mar 15. doi: 10.1007/s12105-021-01292-x

PMCID:: PMC8010005

Abstract Article PDF–3.0M

Select item 72163758.

Jaffe-Campanacci syndrome or neurofibromatosis type 1: a case report of phenotypic overlap with detection of NF1 gene mutation in non-ossifying fibroma

Silvia Vannelli, Raffaele Buganza, Federica Runfola, Ilaria Mussinatto, Antonio Andreacchio, Luisa de Sanctis

Ital J Pediatr. 2020; 46: 58. Published online 2020 May 11. doi: 10.1186/s13052-020-0813-9

PMCID:: PMC7216375

Abstract Article PDF–721K

Select item 59877599.

Gnathodiaphyseal Dysplasia: Severe Atypical Presentation with Novel Heterozygous Mutation of the Anoctamin Gene (ANO5)

Ghada A. Otaify, Michael P. Whyte, Gary S. Gottesman, William H. McAlister, J. Eric Gordon, Abby Hollander, Marisa V. Andrews, Samir K. El-Mofty, Wei-Shen Chen, Deborah V. Novack, Marina Stolina, Albert Woo, Panagiotis Katsonis, Olivier Lichtarge, Fan Zhang, Marwan Shinawi

Bone. Author manuscript; available in PMC 2019 Feb 1.

Published in final edited form as: Bone. 2018 Feb; 107: 161–171. Published online 2017 Nov 21. doi: 10.1016/j.bone.2017.11.012

PMCID:: PMC5987759

Abstract Article PDF–1.1M

Select item 561500310.

Hyper Parathyroidisim Jaw Tumor Syndrome: A Rare Condition of Incongruous Features

Manchil P Redwin Dhas, Kannan S Karthiga, Joy E Tatu, Sherubin J Eugenia

Ethiop J Health Sci. 2017 May; 27(3): 309–313. doi: 10.4314/ejhs.v27i3.14

PMCID:: PMC5615003

Abstract Article PDF–335K

Select item 547220011.

Mice deleted for cell division cycle 73 gene develop parathyroid and uterine tumours: model for the hyperparathyroidism-jaw tumour syndrome

G V Walls, M Stevenson, K E Lines, P J Newey, A A C Reed, M R Bowl, J Jeyabalan, B Harding, K J Bradley, S Manek, J Chen, P Wang, B O Williams, B T Teh, R V Thakker

Oncogene. 2017 Jul 13; 36(28): 4025–4036. Published online 2017 Mar 13. doi: 10.1038/onc.2017.43

PMCID:: PMC5472200

Abstract Article PDF–3.5M

Select item 402641112.

Characterization of a New CDC73 Missense Mutation that Impairs Parafibromin Expression and Nucleolar Localization

Giulia Masi, Maurizio Iacobone, Alessandro Sinigaglia, Barbara Mantelli, Gianmaria Pennelli, Ignazio Castagliuolo, Giorgio Palù, Luisa Barzon

PLoS One. 2014; 9(5): e97994. Published online 2014 May 19. doi: 10.1371/journal.pone.0097994

PMCID:: PMC4026411

Abstract Article PDF–10M

Select item 397445013.

Two cases of multiple ossifying fibromas in the jaws

Ting-Ting Wang, Ran Zhang, Lin Wang, Yan Chen, Qing Dong, Tie-Jun Li

Diagn Pathol. 2014; 9: 75. Published online 2014 Mar 28. doi: 10.1186/1746-1596-9-75

PMCID:: PMC3974450

Abstract Article PDF–1.2M

Select item 385538614.

Identification and Functional Characterization of Three NoLS (Nucleolar Localisation Signals) Mutations of the CDC73 Gene

Valerio Pazienza, Annamaria la Torre, Filomena Baorda, Michela Alfarano, Massimiliano Chetta, Lucia Anna Muscarella, Claudia Battista, Massimiliano Copetti, Dieter Kotzot, Klaus Kapelari, Dalia Al-Abdulrazzaq, Kusiel Perlman, Etienne Sochett, David E. C. Cole, Fabio Pellegrini, Lucie Canaff, Geoffrey N. Hendy, Leonardo D’Agruma, Leopoldo Zelante, Massimo Carella, Alfredo Scillitani, Vito Guarnieri

PLoS One. 2013; 8(12): e82292. Published online 2013 Dec 5. doi: 10.1371/journal.pone.0082292

PMCID:: PMC3855386

Abstract Article PDF–1.2M

Select item 47660615.

Parathyroid carcinoma in familial hyperparathyroidism.

J S Dinnen, R H Greenwoood, J H Jones, D A Walker, E D Williams

J Clin Pathol. 1977 Oct; 30(10): 966–975. doi: 10.1136/jcp.30.10.966

PMCID:: PMC476606

Summary Page Browse PDF–3.4M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 15

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity