Results 61 to 70 of about 35,518 (257)

Project SATURN– a real-world evidence data collaboration with existing European datasets in Osteogenesis Imperfecta to support future therapies

Orphanet Journal of Rare Diseases
Regulatory marketing authorisation is not enough to ensure patient access to new medicinal products. Health Technology Assessment bodies may require data on effectiveness, relative effectiveness, and cost-effectiveness.
L. Sangiorgi, M. Boarini, I. Westerheim, R. T. Skarberg, J. Clancy, V. Wang, M. Mordenti   +6 more
doaj   +1 more source

Avascular Necrosis and Minimal Trauma Fractures in Telomere Biology Disorders

Clinical Genetics, Volume 109, Issue 2, Page 286-293, February 2026.
Avascular Necrosis (AVN) and Minimal Trauma Fractures (MTF) cause significant morbidity in people with Telomere Biology Disorders (TBDs). They occur more frequently in young patients and in those with autosomal recessive (AR) or X‐linked recessive (XLR) than in autosomal dominant (AD) genotypes.
Arman M. Niknafs, Neelam Giri, Marena R. Niewisch, Sharon A. Savage   +3 more
wiley   +1 more source

Fatigue and disturbances of sleep in patients with osteogenesis imperfecta - a cross-sectional questionnaire study [PDF]

, 2018
Background: Persisting fatigue has been reported to be a common complaint by individuals with connective tissue disorders, including Osteogenesis imperfecta (OI).
Arponen, Heidi, Mäkitie, Outi, Valta, Helena, Waltimo-Siren, Janna   +3 more
core   +1 more source

Osteogenesis Imperfecta: A study of the patient journey in 13 European countries

Orphanet Journal of Rare Diseases
Introduction Osteogenesis imperfecta (OI) is a heritable skeletal disorder and comprises various subtypes that differ in clinical presentation, with Type I considered the least severe and Types III/IV the most severe forms.
Ingunn Westerheim, Valerie Cormier-Daire, Scott Gilbert, Sean O’Malley, Richard Keen   +4 more
doaj   +1 more source

Concurrent Reversible Cerebral Vasoconstriction Syndrome and Bilateral Vertebral Artery Dissection in the Postpartum Period: A Case Report

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Reports of postpartum women with concurrent reversible cerebral vasoconstriction syndrome (RCVS) and bilateral vertebral artery dissection (VAD) are rare. Guidelines on the management of future pregnancies in these patients are also limited.
Rong Jin, Huiliang Melissa Tang, Shavi Fernando   +2 more
wiley   +1 more source

Pathological mandibular fracture after simple molar extraction in a patient with osteogenesis imperfecta treated with alendronate [PDF]

, 2010
Osteogenesis imperfecta (OI), is a heterogeneous group of inherited disorders of connective tissue characterized by bone fragility. Patients with this disease frequently suffer fractures, over 80% of the extremities due to the more intensive mechanical
Costilla García, Serafín, Gallego, Lorena, Junquera Gutiérrez, Luis Manuel, Pelaz, A.   +3 more
core   +1 more source

Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications

Prenatal Diagnosis, Volume 46, Issue 1, Page 46-55, January 2026.
ABSTRACT Objective To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES‐CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA) and karyotyping, and to delineate the practical challenges encountered ...
Yulin Jiang, Haibo Li, Xiangyu Zhu, Liangpu Xu, Ying Chang, Fengqun Dong, Jianping Xiao, Jian Gao, Minyue Dong, Ying Peng, Hua Jin, Ting Wang, Xiaoxiao Xie, Lin Zhang, Hongmei Zhuang, Na Hao, Xiya Zhou, Hongna Wang, Ying You, Kun Ma, Rui Xiao, Qingwei Qi   +21 more
wiley   +1 more source

Studies of chain substitution caused sub-fibril level differences in stiffness and ultrastructure of wildtype and oim/oim collagen fibers using multifrequency-AFM and molecular modeling. [PDF]

, 2016
Molecular alteration in type I collagen, i.e., substituting the α2 chain with α1 chain in tropocollagen molecule, can cause osteogenesis imperfecta (OI), a brittle bone disease, which can be represented by a mouse model (oim/oim).
Buehler, MJ, Chang, SW, Dao, M, Li, T, Rodriguez-Florez, N, Shefelbine, S, Zeng, K   +6 more
core   +4 more sources

A guide to building the matrisome interactome: from computational predictions to experimental validation

The FEBS Journal, Volume 293, Issue 1, Page 42-70, January 2026.
This guide proposes a roadmap combining state‐of‐the‐art computational and experimental approaches (including biophysical, biochemical, and imaging techniques) to identify, characterize, and contextualize extracellular matrix (ECM) protein interactions.
Leanna Leverton, Amanpreet Kaur Bains, Ikram Isa, Sylvie Ricard‐Blum, Alexandra Naba   +4 more
wiley   +1 more source

Conducta Anestésica en Niño con Osteogénesis Imperfecta y Hemorragia Epidural [PDF]

, 2013
ResumenLa osteogénesis imperfecta (OI) es el resultado de una mutación genética que causa la formación defectuosa o insuficiente de colágeno. La OI puede causar varias complicaciones anestésicas a causa del manejo difícil de las vías aéreas, de la ...
Erdoğan, Mehmet Ali, Sanlı, Mukadder, Ersoy, Mehmet Ozcan   +2 more
core   +1 more source