Works matching DE "ACHONDROPLASIA"
Results: 544
Vosoritide in achondroplasia: a profile of its use.
- Published in:
- Drugs & Therapy Perspectives, 2022, v. 38, n. 10, p. 417, doi. 10.1007/s40267-022-00942-6
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- Publication type:
- Article
Evaluation of Volumetric Bone Mineral Density, Bone Microarchitecture, and Bone Strength in Patients with Achondroplasia Caused by FGFR3 c.1138G > A Mutation.
- Published in:
- Calcified Tissue International, 2023, v. 112, n. 1, p. 13, doi. 10.1007/s00223-022-01027-2
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- Publication type:
- Article
Collagen X Marker Levels are Decreased in Individuals with Achondroplasia.
- Published in:
- Calcified Tissue International, 2022, v. 111, n. 1, p. 66, doi. 10.1007/s00223-022-00966-0
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- Publication type:
- Article
Physical, Mental, and Social Problems of Adolescent and Adult Patients with Achondroplasia.
- Published in:
- 2019
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- Publication type:
- journal article
Humeral lengthening in patients with achondroplasia and in patients with post-septic shortening: comparison of procedure efficiency and safety.
- Published in:
- 2018
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- Publication type:
- journal article
Shoulder arthroplasty in patients with osteo-chondrodysplasias.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Alteration of major venous drainage routes in a patient with achondroplasia after ventriculoperitoneal shunt placement.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Unravelling the pathogenesis of foramen magnum stenosis in patients with severe achondroplasia: a CT-based comparison with age-matched controls and FGFR3 craniosynostosis syndromes.
- Published in:
- Child's Nervous System, 2023, v. 39, n. 12, p. 3491, doi. 10.1007/s00381-023-06005-z
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- Publication type:
- Article
Spinal canal stenosis in children with achondroplasia: the role of augmentation laminoplasty—a 15-year single institution experience.
- Published in:
- Child's Nervous System, 2023, v. 39, n. 1, p. 229, doi. 10.1007/s00381-022-05566-9
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- Publication type:
- Article
Myasthenia gravis complicating the surgical management of achondroplasia: a case-based update.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
New insights in craniovertebral junction MR changes leading to stenosis in children with achondroplasia.
- Published in:
- Child's Nervous System, 2022, v. 38, n. 6, p. 1137, doi. 10.1007/s00381-022-05514-7
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- Publication type:
- Article
Airways and craniofacial assessment in children affected by achondroplasia with and without sleep-disordered breathing: quantitative magnetic resonance study.
- Published in:
- Child's Nervous System, 2022, v. 38, n. 6, p. 1147, doi. 10.1007/s00381-022-05484-w
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- Publication type:
- Article
Endoscopic third ventriculostomy for hydrocephalus in a patient with achondroplasia: a case report and literature review.
- Published in:
- Child's Nervous System, 2021, v. 37, n. 12, p. 3907, doi. 10.1007/s00381-021-05129-4
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- Publication type:
- Article
The 100th volume of 'Archives' appeared 100 years ago.
- Published in:
- 2013
- By:
- Publication type:
- Editorial
Statin treatment rescues FGFR3 skeletal dysplasia phenotypes.
- Published in:
- Nature, 2014, v. 513, n. 7519, p. 507, doi. 10.1038/nature13775
- By:
- Publication type:
- Article
Anesthesia Management in an Acondroplasic Patient Developing Cardiac Tamponade Due to Myxedema.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Case Report of Chondrodysplasia Punctata: A Rare Complication of Hyperemesis Gravidarum.
- Published in:
- Kerbala Jorunal of Medicine, 2018, v. 11, n. 2, p. 4064
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- Publication type:
- Article
SNPS in the Promoter Regions of the Canine RMRP and SHOX Genes are not Associated with Canine Chondrodysplasia.
- Published in:
- Animal Biotechnology, 2008, v. 19, n. 1, p. 1, doi. 10.1080/10495390701638328
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- Publication type:
- Article
A case of facial palsy after spinal surgery with prone positioning in a patient with achondroplasia.
- Published in:
- JA Clinical Reports, 2023, v. 9, n. 1, p. 1, doi. 10.1186/s40981-023-00628-6
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- Publication type:
- Article
Chemotherapy dosing in achondroplastic dwarfism: a case report and review of literature.
- Published in:
- Journal of Clinical Pharmacy & Therapeutics, 2016, v. 41, n. 6, p. 733, doi. 10.1111/jcpt.12464
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- Publication type:
- Article
55th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Paris, France, September 10-12, 2016: Abstracts.
- Published in:
- 2016
- Publication type:
- Abstract
Symposia.
- Published in:
- 2016
- Publication type:
- Abstract
Height Outcome of Recombinant Human Growth Hormone Treatment in Achondroplasia Children: A Meta-Analysis.
- Published in:
- Hormone Research in Paediatrics, 2016, v. 86, n. 1, p. 27, doi. 10.1159/000446958
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- Publication type:
- Article
What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 199, doi. 10.3390/genes14010199
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- Publication type:
- Article
Detection of G1138A Mutation of the FGFR3 Gene in Tooth Material from a 180-Year-Old Museological Achondroplastic Skeleton.
- Published in:
- Genes, 2017, v. 8, n. 9, p. 214, doi. 10.3390/genes8090214
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- Publication type:
- Article
Pubertal growth in height, sitting height and leg length in achondroplasia.
- Published in:
- Annals of Human Biology, 2021, v. 48, n. 1, p. 8, doi. 10.1080/03014460.2021.1883109
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- Publication type:
- Article
Pustular Skin Lesions in an Adult Female Patient with X-linked Dominant Chondrodysplasia Punctata with a Novel Emopamil Binding Protein Mutation: A Rare Skin Manifestation.
- Published in:
- Acta Dermato-Venereologica, 2021, v. 101, n. 9, p. 1, doi. 10.2340/00015555-3916
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- Publication type:
- Article
Advances in evaluating the fetal skeleton.
- Published in:
- International Journal of Women's Health, 2014, v. 6, p. 489, doi. 10.2147/IJWH.S47073
- By:
- Publication type:
- Article
'Taking a Risk': Disability, Prejudice and Advocacy in the Editing and Publishing History of Ruth Park's Swords and Crowns and Rings.
- Published in:
- 2022
- By:
- Publication type:
- Literary Criticism
Akondroplazik Pediyatrik Hastada Anestezi Yönetimi.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Clinical, anthropometric, radiological and molecular characteristics of Egyptian achondroplasia patients.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2009, v. 10, n. 1, p. 13
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- Publication type:
- Article
Successful Delivery in a Woman With Achondroplasia: A Cases Report.
- Published in:
- Acta Medica Iranica, 2017, v. 55, n. 8, p. 536
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- Publication type:
- Article
The best of the week's health-related TV and radio.
- Published in:
- Nursing Standard, 2013, v. 27, n. 49, p. 31, doi. 10.7748/ns2013.08.27.49.31.s44
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- Publication type:
- Article
CONTINUING EDUCATION. HOME STUDY ACTIVITIES.
- Published in:
- Neonatal Network, 2017, v. 36, n. 6, p. 388, doi. 10.1891/0730-0832.36.6.388
- Publication type:
- Article
Achondroplasia: Etiology, Clinical Presentation, and Management.
- Published in:
- Neonatal Network, 2017, v. 36, n. 6, p. 337, doi. 10.1891/0730-0832.36.6.337
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- Publication type:
- Article
Limb Lengthening for Achondroplasia: Systematic Review and Meta-analysis.
- Published in:
- Egyptian Journal of Hospital Medicine, 2019, v. 74, n. 7, p. 1491
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- Publication type:
- Article
Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?
- Published in:
- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03621-7
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- Publication type:
- Article
Clinical and economic burden of achondroplasia in the United States: results from a retrospective, observational study.
- Published in:
- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-024-03268-w
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- Publication type:
- Article
International expert opinion on the considerations for combining vosoritide and limb surgery: a modified delphi study.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03236-4
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- Publication type:
- Article
Cranial features of achondroplasia presenting with headaches.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Activated FGFR3 prevents subchondral bone sclerosis during the development of osteoarthritis in transgenic mice with achondroplasia.
- Published in:
- Journal of Orthopaedic Research, 2018, v. 36, n. 1, p. 300, doi. 10.1002/jor.23608
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- Publication type:
- Article
Bone robusticity in two distinct skeletal dysplasias diverges from established patterns.
- Published in:
- Journal of Orthopaedic Research, 2017, v. 35, n. 11, p. 2392, doi. 10.1002/jor.23543
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- Publication type:
- Article
Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type α1(X) protein chains.
- Published in:
- Journal of Orthopaedic Research, 2010, v. 28, n. 11, p. 1497, doi. 10.1002/jor.21161
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- Publication type:
- Article
Case reports and case series bridge gaps in the literature.
- Published in:
- Baylor University Medical Center Proceedings, 2024, v. 37, n. 1, p. 69, doi. 10.1080/08998280.2023.2273689
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- Publication type:
- Article
Anesthetic management of parturients with achondroplasia: a case series.
- Published in:
- Baylor University Medical Center Proceedings, 2024, v. 37, n. 1, p. 63, doi. 10.1080/08998280.2023.2261084
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- Publication type:
- Article
High-resolution computed tomography temporal bone imaging in achondroplasia.
- Published in:
- Baylor University Medical Center Proceedings, 2021, v. 34, n. 3, p. 419, doi. 10.1080/08998280.2020.1868245
- By:
- Publication type:
- Article
Progress in managing children with achondroplasia.
- Published in:
- Expert Review of Endocrinology & Metabolism, 2024, v. 19, n. 6, p. 479, doi. 10.1080/17446651.2024.2390416
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- Publication type:
- Article
A multidisciplinary approach to understanding skeletal dysplasias.
- Published in:
- Expert Review of Endocrinology & Metabolism, 2011, v. 6, n. 5, p. 731, doi. 10.1586/EEM.11.61
- By:
- Publication type:
- Article
Morphometric Analysis of the Foramen Magnum.
- Published in:
- International Journal of Morphology, 2017, v. 35, n. 4, p. 1270, doi. 10.4067/S0717-95022017000401270
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- Publication type:
- Article
Advantages and Disadvantages of Different Treatment Methods in Achondroplasia: A Review.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5573, doi. 10.3390/ijms22115573
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- Publication type:
- Article