Results 61 to 70 of about 3,459 (205)

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

Two Siblings Followed Up for Hereditary Multiple Exostoses

Haseki Tıp Bülteni, 2014
Hereditary multiple exostoses is an autosomal dominant disease with abnormal bone formation especially at the long bones. Osteochondromas, which occur in the course of the disease, can cause growth disturbances in affected children.
Meltem Erol, Özgül Yiğit, Oktay Adanır, Mehmet Toksöz, Halis Narin, Veysel Gök, Dilek Borakay, Murat Konya   +7 more
doaj   +1 more source

Complicaciones de los osteocondromas [PDF]

, 2009
Los osteocondromas o exostosis cartilaginosas son los tumores óseos más frecuentes, representando el 10-15 % de la totalidad. Parece ser más bien una alteración del desarrollo óseo más que un tumor verdadero.
Carpintero Benítez, Pedro, Carpintero, R., Fresno, J.A. del, Gálvez, M.J., Marín, M.A.   +4 more
core  

Skeletal Dysplasia During the Bronze Age in Northeast Thailand (3000–2500 BP)

International Journal of Osteoarchaeology, Volume 36, Issue 2, Page 318-324, March/April 2026.
ABSTRACT This study examines a case of skeletal dysplasia in an adult male (B290) from the Bronze Age at the site of Ban Non Wat, Northeast Thailand. Skeletal dysplasia, a group of genetic disorders affecting bone and cartilage growth, presents diagnostic challenges due to overlapping clinical features.
Nuttheera Kaoboriboon, Nancy Tayles, Sarah Agatha Villaluz, Pratiwi Yuwono, Kate Domett, Melandri Vlok   +5 more
wiley   +1 more source

Multiple Hereditary Exostoses [PDF]

HSS Journal®: The Musculoskeletal Journal of Hospital for Special Surgery, 2005
Carolyn M, Sofka, Gregory R, Saboeiro, Robert, Schneider   +2 more
openaire   +3 more sources

The identification of a novel frameshift insertion mutation in the EXT1 gene in a Chinese family with hereditary multiple exostoses

Clinical Case Reports, 2022
To identify the pathogenic gene variation in a Chinese family with Hereditary Multiple Exostoses (HME). By examining blood‐sourced DNA and clinical manifestations of the proband and his family members, the whole exome sequencing (WES) and Sanger ...
Wanlu Liu, Xinwei Shi, Yuqi Li, Fuyuan Qiao, Yuanyuan Wu   +4 more
doaj   +1 more source

Dental Stigmata and Skeletal Lesions of Congenital Treponematosis in Early Agricultural Vietnam (4000–3500 bp)

International Journal of Osteoarchaeology, Volume 36, Issue 2, Page 401-413, March/April 2026.
ABSTRACT Prior research has documented treponematosis at a single site in Mainland Southeast Asia from northern Vietnam dated to the early agricultural transition (~4000–3500 bp). To date, no other cases in Southeast Asia's prehistory have been identified.
Melandri Vlok, Tran Thi Minh, Nicola Czaplinski, Hallie Buckley, Kate Domett, Hiep Hoang Trinh, Nguyen Thi Mai Huong, Nghia Thi Huu, Do Thi Kim Dung, Nguyen Thi Sau, Nguyen Phuong Thao, Do Thi Lan, Phan Thi Kim An, Luong Hong Phuoc, Hirofumi Matsumura, Marc Oxenham   +15 more
wiley   +1 more source

Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas

Therapeutics and Clinical Risk Management, 2016
Susan Akbaroghli,1,* Maryam Balali,2,* Behnam Kamalidehghan,3,4 Siamak Saber,4 Omid Aryani,5 Goh Yong Meng,6 Massoud Houshmand4 1Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, 2ENT and Head & Neck Research Center ...
Akbaroghli S, Balali M, Kamalidehghan B, Saber S, Aryani O, Yong Meng G, Houshmand M   +6 more
doaj  

Prognostic Factors in Dedifferentiated Chondrosarcoma: A Retrospective Analysis of a Large Series Treated at a Single Institution. [PDF]

, 2019
Background:Dedifferentiated chondrosarcomas (DDCSs) are highly malignant tumors with a dismal prognosis and present a significant challenge in clinical management.
Chebib, Ivan, Chen, Yen-Lin E, Choy, Edwin, Cote, Gregory M, DeLaney, Thomas F, Deshpande, Vikram, Hornicek, Francis J, Miao, Ruoyu, Nielsen, Gunnlaugur Petur, Raskin, Kevin A, Schwab, Joseph H   +10 more
core   +1 more source

Golgi Apparatus‐Associated Secretome Deciphering in Living Cells Enabled by Aggregation‐Induced Emission Luminogen‐Mediated Photocatalytic Proximity Labeling

Aggregate, Volume 7, Issue 2, February 2026.
Golgi apparatus‐associated secretome is crucial for cell communications. This work introduces a novel application of aggregation‐induced emission luminogen for Golgi‐targeted labeling, and provides a robust chemical tool that enables proteome mapping within the Golgi lumen in situ with precise spatiotemporal control and high efficiency, achieving dual ...
He Wang, Yanli Guo, Zhen Liang, Wenwen Liu, Zijian Guo, Yukui Zhang, Yuncong Chen, Bo Jiang, Lihua Zhang   +8 more
wiley   +1 more source