Cargando…

Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders

CONTEXT: Many different inherited and acquired conditions can result in premature bone fragility/low bone mass disorders (LBMDs). OBJECTIVE: We aimed to elucidate the impact of genetic testing on differential diagnosis of adult LBMDs and at defining clinical criteria for predicting monogenic forms....

Descripción completa

Detalles Bibliográficos
Autores principales:	Oheim, Ralf, Tsourdi, Elena, Seefried, Lothar, Beller, Gisela, Schubach, Max, Vettorazzi, Eik, Stürznickel, Julian, Rolvien, Tim, Ehmke, Nadja, Delsmann, Alena, Genest, Franca, Krüger, Ulrike, Zemojtel, Tomasz, Barvencik, Florian, Schinke, Thorsten, Jakob, Franz, Hofbauer, Lorenz C, Mundlos, Stefan, Kornak, Uwe
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2022
Materias:	Online Only Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9202726/ https://www.ncbi.nlm.nih.gov/pubmed/35276006 http://dx.doi.org/10.1210/clinem/dgac147

Ejemplares similares

Bilateral Looser zones or pseudofractures in the anteromedial tibia as a component of medial tibial stress syndrome in athletes
por: Stürznickel, Julian, et al.
Publicado: (2020)

Clinical and Radiological Characterization of Patients with Immobilizing and Progressive Stress Fractures in Methotrexate Osteopathy
por: Rolvien, Tim, et al.
Publicado: (2020)

Muskuloskelettale Labordiagnostik im Leistungssport
por: Delsmann, Maximilian M., et al.
Publicado: (2021)

Impaired Bone Microarchitecture at Distal Radial and Tibial Reference Locations Is Not Related to Injury Site in Athletes With Bone Stress Injury
por: Stürznickel, Julian, et al.
Publicado: (2022)

Bone mineral density and microarchitecture change during skeletal growth in harbor seals (Phoca vitulina) from the German coast
por: Delsmann, Julian, et al.
Publicado: (2023)

Genotype–Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia
por: Jandl, Nico Maximilian, et al.
Publicado: (2020)

Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome
por: Rolvien, Tim, et al.
Publicado: (2020)

Outcome of Teriparatide Treatment on Fracture Healing Complications and Symptomatic Bone Marrow Edema in Four Adult Patients With Hypophosphatasia
por: Schmidt, Tobias, et al.
Publicado: (2019)

Beneficial effects of denosumab on muscle performance in patients with low BMD: a retrospective, propensity score-matched study
por: Rupp, Tobias, et al.
Publicado: (2022)

Intra-articular osteoid osteoma accompanied by extensive bone marrow edema. A clinical and micro-morphological analysis
por: Rolvien, Tim, et al.
Publicado: (2019)

Osteology
Publicado: (1898)

Gnathodiaphyseal dysplasia is not recapitulated in a respective mouse model carrying a mutation of the Ano5 gene
por: Rolvien, Tim, et al.
Publicado: (2020)

AIDS TO OSTEOLOGY
Publicado: (1963)

Human osteology
por: White, T. D. (Timothy D.)
Publicado: (2000)

The Pocket Osteology
Publicado: (1908)

The Osteology of Mammalia
Publicado: (1871)

Aids to Osteology
Publicado: (1934)

Aids to Osteology
Publicado: (1942)

Holden's Osteology
Publicado: (1870)

Illustrations of Osteology
Publicado: (1839)

Illustrations of Osteology
Publicado: (1839)

Human Osteology
Publicado: (1886)

Palæolithic Osteology
por: Cilley, J. L.
Publicado: (1881)

Distribution of Constituents and Metabolites of Maritime Pine Bark Extract (Pycnogenol(®)) into Serum, Blood Cells, and Synovial Fluid of Patients with Severe Osteoarthritis: A Randomized Controlled Trial
por: Mülek, Melanie, et al.
Publicado: (2017)

Physical Function and Health‐Related Quality of Life in Adults Treated With Asfotase Alfa for Pediatric‐Onset Hypophosphatasia
por: Genest, Franca, et al.
Publicado: (2020)

Dynamics of Skeletal Status under Optimized Management during Subsequent Pregnancy in Three Women with a History of Pregnancy‐ and Lactation‐Associated Osteoporosis Carrying pathogenic Variants in WNT1 and LRP5
por: Stürznickel, Julian, et al.
Publicado: (2023)

Human Osteology in Bengali
Publicado: (1885)

An Introduction to the Osteology of the Mammalia
Publicado: (1870)

Holden's Human Osteology
por: Thomson, Arthur
Publicado: (1899)

Osteology of the Circus Hudsonius
por: Shufeldt, R. W.
Publicado: (1889)

Radial HR-pQCT and Finite Element Analysis in HPP Patients are Superior in Identifying Susceptibility to Fracture-Associated Skeletal Affections Compared to DXA and Laboratory Tests
por: Schmidt, Felix N., et al.
Publicado: (2023)

Sarcopenia and Malnutrition Screening in Female Osteoporosis Patients—A Cross-Sectional Study
por: Genest, Franca, et al.
Publicado: (2021)

Feasibility of simple exercise interventions for men with osteoporosis – A prospective randomized controlled pilot study
por: Genest, Franca, et al.
Publicado: (2021)

Human osteology : a laboratory and field manual /
por: Bass, William M., 1928-
Publicado: (2005)

Cellular pharmacodynamic effects of Pycnogenol® in patients with severe osteoarthritis: a randomized controlled pilot study
por: Jessberger, Steffen, et al.
Publicado: (2017)

Differential impact of osteoporosis, sarcopenia and obesity on physical performance in aging men
por: Genest, Franca, et al.
Publicado: (2021)

Lectures on Osteology, Including the Ligaments
Publicado: (1845)

Rough Notes on Human Osteology
Publicado: (1878)

The Student's Guide to Human Osteology
Publicado: (1876)

Osteological Studies of the Subfamily Ardeinæ
por: Shufeldt, R. W.
Publicado: (1889)

Cannot write session to /tmp/vufind_sessions/sess_ghsnr9jmfsrkvttditr8lkqtmh