Search Results - "Rustad CF"

Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.

Authors: Jost C Mussa A Kurtz JE et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Jul 08. Date of Electronic Publication: 2026 Jul 08.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Healthcare needs, care use and health status outcomes in adults with Bardet-Biedl syndrome: a cross-sectional study in Norway.

Authors: Rustad CF Bragadottir R Nordgarden H et al.

Source: BMJ open [BMJ Open] 2025 Apr 22; Vol. 15 (4), pp. e095986. Date of Electronic Publication: 2025 Apr 22.

Publication Type: Journal Article; Observational Study

Journal Info: Publisher: BMJ Publishing Group Ltd Country of Publication: England NLM ID: 101552874 Publication Model: Electronic Cited Medium: Internet ISSN: 2044-6055 (Electronic) Linking ISSN: 20446055 NLM ISO Abbreviation: BMJ Open Subsets: MEDLINE

Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.

Authors: AlAbdi, Lama Shamseldin, Hanan E. Khouj, Ebtissal et al.

Source: Genome Medicine. 12/14/2023, Vol. 15 Issue 1, p1-16. 16p.

Mental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: a cross-sectional multinational study.

Authors: Fagereng, Elisabeth Htwe, Su McDonald, Sam et al.

Source: Orphanet Journal of Rare Diseases. 3/11/2025, Vol. 20 Issue 1, p1-14. 14p.

Clinical burden and healthcare resource utilization associated with achondroplasia: a real-world observational, retrospective cohort study.

Authors: Abraham, Pranav Miles, Gandarvaka Petruski-Ivleva, Natalia et al.

Source: Orphanet Journal of Rare Diseases. 11/5/2025, Vol. 20 Issue 1, p1-10. 10p.

Complicated Spinal Stenosis and Spinal Deformity in Patients with Achondroplasia: Case Series and Review of the Literature.

Authors: Fu, Wenyang Gao, Xianlei Wang, Xia et al.

Source: Orthopaedic Surgery. Dec2024, Vol. 16 Issue 12, p3059-3067. 9p.

Facilitators and constraints of physical activity in adults with achondroplasia: a scoping review.

Authors: Alves, Inês Koromani, Fjorda Lemos, Carolina et al.

Source: Journal of Rare Diseases. Dec2024, Vol. 3 Issue 1, p1-23. 23p.

Inconvenience and adaptation in Japanese adult achondroplasia and hypochondroplasia: A cross-sectional study.

Authors: Akiko Ajimi Masaki Matsushita Kenichi Mishima et al.

Source: Clinical Pediatric Endocrinology. 2022, Vol. 31 Issue 1, p18-24. 7p.

Body composition, anthropometry, and resting energy expenditure in adults with achondroplasia: a pilot study to determine best practices.

Authors: Schulze, Kerry McGready, John Barron, Bobbie et al.

Source: Orphanet Journal of Rare Diseases. 10/21/2025, Vol. 20 Issue 1, p1-10. 10p.

Integrated mendelian randomization analyses highlight AFF3 as a novel eQTL-mediated susceptibility gene in renal cancer and its potential mechanisms.

Authors: Wang, Qiming Chen, Shaopeng Wang, Gang et al.

Source: BMC Cancer. 6/17/2024, Vol. 24 Issue 1, p1-10. 10p.

A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report.

Alternate Title: Uma rara mutação missense no gene LMNA causando um fenótipo grave de displasia mandibuloacral tipo A: relato de caso.

Authors: Carvalho, Adriana Amaral Machado, Renato Assis Fernandes Maia, Célia Márcia et al.

Source: Revista Paulista de Pediatria. 2024, Vol. 42, p1-7. 7p.

Dermatologic manifestations in paediatric neurofibromatosis type 2: a cross sectional descriptive multicentric study.

Authors: Legoupil, S. Bessis, D. Picard, F. et al.

Source: Orphanet Journal of Rare Diseases. 6/21/2022, Vol. 17 Issue 1, p1-8. 8p.

Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study.

Authors: Savarirayan, Ravi Baratela, Wagner Butt, Thomas et al.

Source: Orphanet Journal of Rare Diseases. 6/13/2022, Vol. 17 Issue 1, p1-10. 10p.

Unilateral biportal endoscopic decompression for lumbar spinal stenosis in achondroplasia: a 30-month follow up case report.

Authors: Liu X Su Z Zhang D et al.

Source: European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society [Eur Spine J] 2025 Jul; Vol. 34 (7), pp. 2981-2985. Date of Electronic Publication: 2025 Apr 01.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 9301980 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0932 (Electronic) Linking ISSN: 09406719 NLM ISO Abbreviation: Eur Spine J Subsets: MEDLINE

Work participation in adults with rare genetic diseases - a scoping review.

Authors: Velvin, Gry Dammann, Brede Haagensen, Trond et al.

Source: BMC Public Health. 5/19/2023, Vol. 23 Issue 1, p1-17. 17p. 2 Diagrams, 4 Charts, 4 Graphs.

Maternal, fetal and neonatal outcomes among pregnant women with arthrogryposis multiplex congenita: a scoping review.

Authors: Arduç, Arda De Vries, Johanna I. P. Tan-Sindhunata, Maria B. et al.

Source: Orphanet Journal of Rare Diseases. 3/17/2025, Vol. 20 Issue 1, p1-17. 17p.

UXS1 Knockdown Suppresses Cell Proliferation and Invasion in Hepatocellular Carcinoma by Inducing Ferroptosis via SLC7A11/GPX4 Pathway.

Authors: Lv J Han K Gan FY et al.

Source: Current medical science [Curr Med Sci] 2026 Apr; Vol. 46 (2), pp. 472-482. Date of Electronic Publication: 2026 Mar 17.

Publication Type: Journal Article

Journal Info: Publisher: Huazhong University of Science and Technology Country of Publication: China NLM ID: 101729993 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2523-899X (Electronic) Linking ISSN: 2523899X NLM ISO Abbreviation: Curr Med Sci Subsets: MEDLINE

Bardet-Biedl syndrome in two sibling pairs: a case series.

Authors: Aziz A Shahzil M Arshad A et al.

Source: Journal of medical case reports [J Med Case Rep] 2026 Mar 14; Vol. 20 (1). Date of Electronic Publication: 2026 Mar 14.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947 (Electronic) Linking ISSN: 17521947 NLM ISO Abbreviation: J Med Case Rep Subsets: MEDLINE

Mechanostimulation of neuroendocrine cells and their clinical relevance.

Authors: Brayer M Zderic V Jeremic A

Source: Molecular and cellular biochemistry [Mol Cell Biochem] 2026 Feb; Vol. 481 (2), pp. 639-654. Date of Electronic Publication: 2025 Nov 18.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 0364456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4919 (Electronic) Linking ISSN: 03008177 NLM ISO Abbreviation: Mol Cell Biochem Subsets: MEDLINE

Fat infiltration in the thigh muscles is associated with symptomatic spinal stenosis and reduced physical functioning in adults with achondroplasia.

Authors: Fredwall, Svein O. Linge, Jennifer de Vries, Olga et al.

Source: Orphanet Journal of Rare Diseases. 2/22/2023, Vol. 18 Issue 1, p1-12. 12p.