Results 101 to 110 of about 6,213,342 (156)

An ENU-induced p.C225S missense mutation in the mouse Tgfb1 gene does not cause Camurati-Engelmann disease-like skeletal phenotypes. [PDF]

Exp Anim, 2017
Ichimura S, Sasaki S, Murata T, Fukumura R, Gondo Y, Ikegawa S, Furuichi T.   +6 more
europepmc   +1 more source

Camurati-Engelmann disease (progressive hereditary craniodiaphyseal dysplasia)

, 1978
A. John Popp, John K. Yen, Carl R. Wirth, Robert S. Bourke   +3 more
core   +1 more source

Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand. [PDF]

J Bone Miner Res, 2011
Whyte MP, Totty WG, Novack DV, Zhang X, Wenkert D, Mumm S.   +5 more
europepmc   +1 more source

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. [PDF]

J Med Genet, 2006
Janssens K, Vanhoenacker F, Bonduelle M, Verbruggen L, Van Maldergem L, Ralston S, Guañabens N, Migone N, Wientroub S, Divizia MT, Bergmann C, Bennett C, Simsek S, Melançon S, Cundy T, Van Hul W.   +15 more
europepmc   +1 more source

Melorheostosis of the Right Lower Limb Presenting as Progressive Painful Swelling in a Young Adult: A Case Report. [PDF]

J Orthop Case Rep
Shukla A, Marri D, Sanjana PD, Harshitha P, Pavithra Y, Deekshitha NVS.   +5 more
europepmc   +1 more source

Metabolic-Immune Crosstalk in Pediatric Rheumatology: From Pathogenesis to Precision Therapy. [PDF]

Iran J Child Neurol
Shashaani N, Javadi V, Rahmani K, Alaei MR, Shiari R.   +4 more
europepmc   +1 more source

Intramedullary osteosclerosis of the tibia with inflammatory features: Multimodality imaging findings. [PDF]

Radiol Case Rep
Betancur JF, Diaz-Granados MG, Arroyave SA, Pérez LE, Ramírez B.   +4 more
europepmc   +1 more source

Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders. [PDF]

Calcif Tissue Int
Uludağ Alkaya D, Usluer E, Alp Ünkar Z, Şeker A, Adaletli İ, Güneş N, Madazlı R, Kadıoğlu P, Derbent M, Tüysüz B.   +9 more
europepmc   +1 more source

A case-based explainable graph neural network framework for mechanistic drug repositioning. [PDF]

Bioinformatics
Gonzalez-Cavazos AC, Tu R, Sinha M, Su AI.   +3 more
europepmc   +1 more source