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Select item 114881861.

Melorheostosis Involving the Hip Joint

Antoine Vandendriessche, Filip Vanhoenacker

J Belg Soc Radiol. 2024; 108(1): 88. Published online 2024 Oct 14. doi: 10.5334/jbsr.3752

PMCID:: PMC11488186

Article PDF–414K

Select item 114556602.

Arthroscopic Management of Melorheostosis-Induced Ankle Deformity: A Case Report

Che-Yu Lin, Kai-Chiang Yang, Kuang-Ting Yeh, Meng-Chun Tsai, Chen-Chie Wang

Cureus. 2024 Sep; 16(9): e68747. Published online 2024 Sep 5. doi: 10.7759/cureus.68747

PMCID:: PMC11455660

Article PDF–4.1M

Select item 113348063.

Osteopoikilosis in a patient with familial adenopolyposis : A case report

Rashed Al-Khudairi, Alexandros Maris, Ahmed Blehadj, Angelo V. Vasiliadis

Radiol Case Rep. 2024 Oct; 19(10): 4485–4488. Published online 2024 Aug 2. doi: 10.1016/j.radcr.2024.07.068

PMCID:: PMC11334806

Article PDF–705K

Select item 112848574.

Abnormal dental follicle cells: A crucial determinant in tooth eruption disorders (Review)

Jiahao Chen, Ying Ying, Huimin Li, Zhuomin Sha, Jiaqi Lin, Yongjia Wu, Yange Wu, Yun Zhang, Xuepeng Chen, Weifang Zhang

Mol Med Rep. 2024 Sep; 30(3): 168. Published online 2024 Jul 15. doi: 10.3892/mmr.2024.13292

PMCID:: PMC11284857

Article PDF–1.8M

Select item 111520585.

Antagonism Between PEDF and TGF-β Contributes to Type VI Osteogenesis Imperfecta Bone and Vascular Pathogenesis

Heeseog Kang, Smriti Aryal AC, Aileen M Barnes, Aline Martin, Valentin David, Susan E Crawford, Joan C Marini

J Bone Miner Res. Author manuscript; available in PMC 2024 Jun 5.

Published in final edited form as: J Bone Miner Res. 2022 May; 37(5): 925–937. Published online 2022 Apr 13. doi: 10.1002/jbmr.4540

PMCID:: PMC11152058

Article PDF–1.8M

Select item 110458706.

Gingival proteomics reveals the role of TGF beta and YAP/TAZ signaling in Raine syndrome fibrosis

Cláudio Rodrigues Rezende Costa, Rym Chalgoumi, Amina Baker, Clément Guillou, Paulo Marcio Yamaguti, Victor Simancas Escorcia, Lilia Abbad, Bruna Rabelo Amorin, Caroline Lourenço de Lima, Vidjea Cannaya, Mourad Benassarou, Ariane Berdal, Christos Chatziantoniou, Olivier Cases, Pascal Cosette, Renata Kozyraki, Ana Carolina Acevedo

Sci Rep. 2024; 14: 9497. Published online 2024 Apr 25. doi: 10.1038/s41598-024-59713-0

PMCID:: PMC11045870

Article PDF–9.2M

Select item 108728217.

VEGF Secretion Drives Bone Formation in Classical MAP2K1+ Melorheostosis

Jules Allbritton-King, Jyotirindra Maity, Amit Patel, Robert A Colbert, Fatemeh Navid, Timothy Bhattacharyya

J Bone Miner Res. Author manuscript; available in PMC 2024 Dec 1.

Published in final edited form as: J Bone Miner Res. 2023 Dec; 38(12): 1834–1845. Published online 2023 Oct 24. doi: 10.1002/jbmr.4915

PMCID:: PMC10872821

Article PDF–2.2M

Select item 105027358.

AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia

Paulien Terhal, Anton J. Venhuizen, Davor Lessel, Wen-Hann Tan, Abdulrahman Alswaid, Regina Grün, Hamad I. Alzaidan, Simon von Kroge, Nada Ragab, Maja Hempel, Christian Kubisch, Eduardo Novais, Alba Cristobal, Kornelia Tripolszki, Peter Bauer, Björn Fischer-Zirnsak, Rutger A.J. Nievelstein, Atty van Dijk, Peter Nikkels, Ralf Oheim, Heidi Hahn, Aida Bertoli-Avella, Madelon M. Maurice, Uwe Kornak

Am J Hum Genet. 2023 Sep 7; 110(9): 1470–1481. Published online 2023 Aug 14. doi: 10.1016/j.ajhg.2023.07.011

PMCID:: PMC10502735

Article PDF–2.9M

Select item 102292159.

Complications of surgical management of osteopetrosis. A case report of multiple surgeries performed on one patient

Anže Lamut, Simon Kovač

J Surg Case Rep. 2023 May; 2023(5): rjad315. Published online 2023 May 30. doi: 10.1093/jscr/rjad315

PMCID:: PMC10229215

Article PDF–586K

Select item 1022322010.

Melorheostosis: A Review of the Literature and a Case Report

Sergiu Iordache, Adrian Cursaru, Bogdan Serban, Mihai Costache, Razvan Spiridonica, Bogdan Cretu, Catalin Cirstoiu

Medicina (Kaunas) 2023 May; 59(5): 869. Published online 2023 Apr 30. doi: 10.3390/medicina59050869

PMCID:: PMC10223220

Article PDF–4.0M

Select item 1021929411.

Potential Role of Protein Kinase FAM20C on the Brain in Raine Syndrome, an In Silico Analysis

Icela Palma-Lara, Patricia García Alonso-Themann, Javier Pérez-Durán, Ricardo Godínez-Aguilar, José Bonilla-Delgado, Damián Gómez-Archila, Ana María Espinosa-García, Manuel Nolasco-Quiroga, Georgina Victoria-Acosta, Adolfo López-Ornelas, Juan Carlos Serrano-Bello, María Guadalupe Olguín-García, Carmen Palacios-Reyes

Int J Mol Sci. 2023 May; 24(10): 8904. Published online 2023 May 17. doi: 10.3390/ijms24108904

PMCID:: PMC10219294

Article PDF–3.6M

Select item 963148112.

Clinical characteristics and the influence of rs1800470 in patients with Camurati-Engelmann disease

Hanting Liang, Ruizhi Jiajue, Wenting Qi, Wei Liu, Yue Chi, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Weibo Xia

Front Endocrinol (Lausanne) 2022; 13: 1041061. Published online 2022 Oct 20. doi: 10.3389/fendo.2022.1041061

PMCID:: PMC9631481

Article PDF–1.2M

Select item 954422413.

Clinical characteristics of 10 Chinese patients with melorheostosis and identification of a somatic MAP2K1 variant in one case

Xiaojun Han, Yang Xu, Zhanying Wei, Chun Wang, Hua Yue, Zhenlin Zhang

Mol Genet Genomic Med. 2022 Oct; 10(10): e2043. Published online 2022 Aug 25. doi: 10.1002/mgg3.2043

PMCID:: PMC9544224

Article PDF–3.1M

Select item 947059114.

Inhibition of interleukin-1β reduces myelofibrosis and osteosclerosis in mice with JAK2-V617F driven myeloproliferative neoplasm

Shivam Rai, Elodie Grockowiak, Nils Hansen, Damien Luque Paz, Cedric B. Stoll, Hui Hao-Shen, Gabriele Mild-Schneider, Stefan Dirnhofer, Christopher J. Farady, Simón Méndez-Ferrer, Radek C. Skoda

Nat Commun. 2022; 13: 5346. Published online 2022 Sep 13. doi: 10.1038/s41467-022-32927-4

PMCID:: PMC9470591

Article PDF–2.6M

Select item 926354315.

A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis

Tarık Kırkgöz, Behzat Özkan, Filiz Hazan, Sezer Acar, Özlem Nalbantoğlu, Beyhan Özkaya, Melike Ataseven Kulalı, Semra Gürsoy, Shiro Ikegawa, Long Guo

Front Genet. 2022; 13: 938814. Published online 2022 Jun 24. doi: 10.3389/fgene.2022.938814

PMCID:: PMC9263543

Article PDF–2.2M

Select item 889590916.

SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients

M. Mouillé, M. Rio, S. Breton, M. L. Piketty, A. Afenjar, J. Amiel, Y. Capri, A. Goldenberg, C. Francannet, C. Michot, C. Mignot, L. Perrin, C. Quelin, J. Van Gils, G. Barcia, V. Pingault, G. Maruani, E. Koumakis, V. Cormier-Daire

Orphanet J Rare Dis. 2022; 17: 100. Published online 2022 Mar 3. doi: 10.1186/s13023-022-02229-5