Results 61 to 70 of about 1,261 (184)

HSPG-Deficient Zebrafish Uncovers Dental Aspect of Multiple Osteochondromas [PDF]

, 2012
Multiple Osteochondromas (MO; previously known as multiple hereditary exostosis) is an autosomal dominant genetic condition that is characterized by the formation of cartilaginous bone tumours (osteochondromas) at multiple sites in the skeleton ...
Wiweger, M.I., Roehl, H.H., Wiweger Malgorzata I., Malgorzata I. Wiweger (189110), van Merkesteyn Richard J. P., Henry H. Roehl (51229), van Merkesteyn, R.J.P., Malgorzata I Wiweger, Henry H. Roehl, Henry H Roehl, Zhao Zhe, Zhe Zhao, Pancras C. W. Hogendoorn, Malgorzata I. Wiweger, Zhe Zhao (157204), Richard J. P. van Merkesteyn (189116), Zhao, Z., Pancras C. W. Hogendoorn (123300), Hogendoorn Pancras C. W., Hogendoorn, P.C.W., Richard J. P. van Merkesteyn, Richard J P van Merkesteyn, Pancras C W Hogendoorn, Roehl Henry H., Merkesteyn, R.J.P. van   +24 more
core   +1 more source

Acral Mesenchymal Spindle Cell Neoplasm With a Novel HMGA2::NCOA2 Fusion

Journal of Cutaneous Pathology, Volume 53, Issue 5, Page 402-406, May 2026.
ABSTRACT Molecular profiling has revolutionized the field of soft tissue pathology, enhancing diagnostic precision and treatment strategies. The integration of molecular analysis and immunohistochemistry has been crucial for classifying diagnostically challenging acral mesenchymal neoplasms.
Grace Z. Armstrong, Carina A. Dehner, Eitan Halper‐Stromberg, Esther Baranov, Anna C. Eden, Rachel P. Kowal   +5 more
wiley   +1 more source

Costal exostosis at risk of hepatic injury in a 10-year-old girl

Journal of Pediatric Surgery Case Reports, 2022
Hereditary multiple exostosis (HME) is a rare skeletal genetic disorder with multiple and disseminated osteochondromas. Costal localization is found in 40% of cases.
M. Doan, B. Tschopp, A. Binet, J.-M. Joseph, A. Bregou Bourgeois   +4 more
doaj   +1 more source

Physiotherapist's Management of Suspected Cauda Equina Syndrome in the United Kingdom: A National Survey

Physiotherapy Research International, Volume 31, Issue 2, April 2026.
ABSTRACT Background and Purpose Cauda Equina Syndrome (CES) is a rare but serious spinal condition requiring urgent diagnosis and management. Physiotherapists in UK musculoskeletal (MSK) services increasingly encounter suspected CES cases, but little is known about their clinical decision‐making and referral practices.
Rob Tyer, Nick Livadas, Robert Hogg
wiley   +1 more source

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, Volume 255, Issue 3, Page 228-245, March 2026.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source

Primary Chest Wall Ewing Sarcoma With Diaphragmatic Invasion in an Adult: En‐Bloc Resection and Polypropylene Mesh Reconstruction

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Chest‐wall Ewing sarcoma (CWES) is uncommon in adults and often abuts vital thoracic structures, making R0 resection challenging despite gains with multimodal therapy. A 46‐year‐old Arab male presented with year‐long right‐sided chest pain, weight loss, and a firm mass over the lower right ribs.
Mohammad Alaa Aldakak, Ahmad Al‐Bitar, Raneem Ahmad, Hamza Alhallaq, Kinda Assoud, Hussain Chaban   +5 more
wiley   +1 more source

Congenital multiple exostoses with congenital heart disease

Medical Journal of Dr. D.Y. Patil University, 2017
Multiple exostoses are a rare disorder. It is estimated to occur in 1; 50,000 pregnancies. It presents within the first decade of life and it has an autosomal mode of inheritance; though it has been associated with a spontaneous mutation in 10% of cases.
Ibrahim Aliyu, Teslim O Lawal
doaj   +1 more source

Distal femoral osteochondromas in patients with hereditary multiple osteochondromas, a longitudinal radiological assessment. [PDF]

International Journal of Research Studies in Biosciences, 2015
Contains fulltext : 152132.pdf (Publisher’s version ) (Open Access)
Staal, H.M., Nijhuis, W., Hannink, G.J., Witlox, A.M., Zwan, A.L. van der, Ham, S.J., Arts, J.J., Rhijn, L.W. van   +7 more
openaire   +2 more sources

Chondrosarcoma in Metachondromatosis: A Rare Case Report

Acta Medica Iranica, 2018
Metachondromatosis which was first described in 1971 by Maroteaux is a rare genetic disease consisting of osteochondromas and enchondromas, caused by loss of function of the PTPN11 gene.
Khodamorad Jamshidi, Tina Shooshtarizadeh, Mehrdad Bahrabadi   +2 more
doaj  

Deletion of exon 8 from the EXT1 gene causes multiple osteochondromas (MO) in a family with three affected members. [PDF]

, 2016
Multiple osteochondromas (also called hereditary multiple exostoses) is an autosomal dominant disorder characterized by multiple cartilaginous tumors, which are caused by mutations in the genes for exostosin-1 (EXT1) and exostosin-2 (EXT2).
Stefan Kuchen, Simon D. Gerber, Peter M. Villiger, Kuchen, Stefan, Villiger, Peter, Lei Zhuang, Zhuang, Lei, Trueb, Beat, Gerber, Simon D, Beat Trueb   +9 more
core   +1 more source