Výsledky vyhľadávania - "fibrous dysplasia/McCune-Albright syndrome"

Single-cell analysis of human fibrous dysplasia bone reveals a fibrotic transcriptome and GNAS variants in endothelial, perivascular, and stromal cells

Autori: Wentworth, Kelly L Fierro, Fernando A Moody, Tania A a ďalší

Zdroj: American Journal of Human Genetics. 112(9)

Predmety: 31 Biological Sciences (for-2020), 32 Biomedical and Clinical Sciences (for-2020), 3105 Genetics (for-2020), Rare Diseases (rcdc), Human Genome (rcdc), Dental/Oral and Craniofacial Disease (rcdc), Genetics (rcdc), 2.1 Biological and endogenous factors (hrcs-rac), 1.1 Normal biological development and functioning (hrcs-rac), Humans (mesh), GTP-Binding Protein alpha Subunits, Gs (mesh), Chromogranins (mesh), Transcriptome (mesh), Fibrous Dysplasia of Bone (mesh), Single-Cell Analysis (mesh), Fibrosis (mesh), Endothelial Cells (mesh), Stromal Cells (mesh), Mosaicism (mesh), Male (mesh), Female (mesh), Bone and Bones (mesh), Fibroblasts (mesh), Bone and Bones (mesh), Fibroblasts (mesh), Stromal Cells (mesh), Endothelial Cells (mesh), Humans (mesh), Fibrous Dysplasia of Bone (mesh), Fibrosis (mesh), GTP-Binding Protein alpha Subunits, Gs (mesh), Chromogranins (mesh), Mosaicism (mesh), Female (mesh), Male (mesh), Single-Cell Analysis (mesh), Transcriptome (mesh), Gs-GPCR signaling, bone formation, fibrous dysplasia of the bone, fibrous dysplasia/McCune-Albright syndrome, genetic mosaicism, single-cell RNA sequencing, single-cell genotyping, skeletal dysplasias, Humans (mesh), GTP-Binding Protein alpha Subunits, Gs (mesh), Chromogranins (mesh), Transcriptome (mesh), Fibrous Dysplasia of Bone (mesh), Single-Cell Analysis (mesh), Fibrosis (mesh), Endothelial Cells (mesh), Stromal Cells (mesh), Mosaicism (mesh), Male (mesh), Female (mesh), Bone and Bones (mesh), Fibroblasts (mesh), 06 Biological Sciences (for), 11 Medical and Health Sciences (for), Genetics & Heredity (science-metrix), 31 Biological sciences (for-2020), 32 Biomedical and clinical sciences (for-2020), 42 Health sciences (for-2020)

Popis súboru: application/pdf

Prístupová URL adresa: https://escholarship.org/uc/item/2kv46815
https://escholarship.org/content/qt2kv46815/qt2kv46815.pdf

Incidence and Prevalence of Fibrous Dysplasia/McCune-Albright Syndrome: A Nationwide Registry-Based Study in Denmark: a nationwide registry-based study in Denmark

Autori: Maartje E Meier Emese Vágó Bo Abrahamsen a ďalší

Zdroj: J Clin Endocrinol Metab
Meier, M E, Vágó, E, Abrahamsen, B, Dekkers, O M, Horváth-Puhó, E, Rejnmark, L & Appelman-Dijkstra, N M 2024, 'Incidence and Prevalence of Fibrous Dysplasia/McCune-Albright Syndrome : A Nationwide Registry-Based Study in Denmark', Journal of Clinical Endocrinology and Metabolism, vol. 109, no. 6, pp. 1423-1432. https://doi.org/10.1210/clinem/dgad744
The Journal of Clinical Endocrinology & Metabolism

Predmety: Male, Adult, Adolescent, Hypophosphatemia, Denmark, prevalence, registry, Fibrous Dysplasia, Polyostotic, Polyostotic/epidemiology, Cohort Studies, Young Adult, Prevalence, Humans, Registries, rare bone disorder, Preschool, Child, 10. No inequality, Aged, fibrous dysplasia/McCune-Albright syndrome, Clinical Research Article, Incidence, Registries/statistics & numerical data, Infant, Middle Aged, Hypophosphatemia/epidemiology, Denmark/epidemiology, 3. Good health, Fibroblast Growth Factor-23, Child, Preschool, incidence, epidemiology, Female, Fibrous Dysplasia

Popis súboru: application/pdf

Prístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38174586
https://portal.findresearcher.sdu.dk/da/publications/86c77310-6bcf-4388-8734-53d8923f5147
https://doi.org/10.1210/clinem/dgad744
https://hdl.handle.net/1887/3721123
https://pure.au.dk/portal/en/publications/7ee2f94e-b066-4be1-bda5-25ce22ef2750
https://doi.org/10.1210/clinem/dgad744

Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune–Albright Syndrome (FD/MAS)

Autori: Yerai Vado Africa Manero-Azua Arrate Pereda a ďalší

Zdroj: Genes, Vol 15, Iss 1, p 120 (2024)

Predmety: GNAS, genetic mosaicism, Fibrous Dysplasia/McCune–Albright syndrome, Sanger sequencing, Next-Generation Sequencing, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/15/1/120; https://doaj.org/toc/2073-4425; https://doaj.org/article/ffd032e2e07041e6aa950e6b137e8955

Dostupnosť: https://doi.org/10.3390/genes15010120
https://doaj.org/article/ffd032e2e07041e6aa950e6b137e8955

Rare musculoskeletal diseases in adults: a research priority setting partnership with the James Lind Alliance

Autori: Gerda Mickute Kristina Staley Heather Delaney a ďalší

Zdroj: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)

Predmety: James Lind Alliance, Priority setting partnership, Fibrous dysplasia/McCune-Albright syndrome, X-linked hypophosphatemia, Osteogenesis imperfecta, Rare musculoskeletal diseases, Medicine

Popis súboru: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01398-5; https://doaj.org/toc/1750-1172

Prístupová URL adresa: https://doaj.org/article/4ae5dac3f5014699af4faf4104d0e118

Improving patient outcomes in fibrous dysplasia/McCune-Albright syndrome: an international multidisciplinary workshop to inform an international partnership

Autori: Daniele Tessaris Muhammad Javaid L Watts a ďalší

Zdroj: Archives of Osteoporosis. 12

Predmety: Adult, Male, 0301 basic medicine, 0303 health sciences, Epidemiology, Fibrous dysplasia, McCune-Albright syndrome, Patient-centered care, Delayed Diagnosis, International Cooperation, Disease Management, Fibrous Dysplasia, Polyostotic, Quality Improvement, Severity of Illness Index, 3. Good health, Fibrous dysplasia McCune-Albright syndrome Patient-centered care Epidemiology, 03 medical and health sciences, 13. Climate action, Patient-Centered Care, Humans, Female, Symptom Assessment

Popis súboru: application/pdf

Prístupová URL adresa: https://europepmc.org/articles/pmc5653227?pdf=render
https://pubmed.ncbi.nlm.nih.gov/28243882
https://www.narcis.nl/publication/RecordID/oai%3Ascholarlypublications.universiteitleiden.nl%3Aitem_3003315
https://research-information.bris.ac.uk/en/publications/improving-patient-outcomes-in-fibrous-dysplasiamccunealbright-syndrome(49417d40-fc20-46b8-8385-e2027af22405)/export.html
https://link.springer.com/content/pdf/10.1007/s11657-016-0271-6
https://www.ncbi.nlm.nih.gov/pubmed/28243882
https://pubmed.ncbi.nlm.nih.gov/28243882/
https://www.csm.ox.ac.uk/publications/683691
https://hdl.handle.net/1887/94857
http://link.springer.com/article/10.1007/s11657-016-0271-6
https://doi.org/10.1007/s11657-016-0271-6
https://hdl.handle.net/2158/1083084

Polyostotic fibrous dysplasia with neuro-axial involvement: a case report and clinical insights.

Autori: van der Meulen M Hof JJ van Velsen EFS

Zdroj: Acta neurologica Belgica [Acta Neurol Belg] 2025 Nov 17. Date of Electronic Publication: 2025 Nov 17.

Spôsob vydávania: Journal Article

Informácie o časopise: Publisher: Springer Country of Publication: Italy NLM ID: 0247035 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2240-2993 (Electronic) Linking ISSN: 03009009 NLM ISO Abbreviation: Acta Neurol Belg Subsets: MEDLINE

Clinical Characteristics and Management of Rare Metabolic Bone Diseases: An Audit of the Rare Metabolic Bone Disease Registry of India.

Autori: Sangar M Das L Kaur S a ďalší

Zdroj: Calcified tissue international [Calcif Tissue Int] 2025 Sep 07; Vol. 116 (1), pp. 119. Date of Electronic Publication: 2025 Sep 07.

Spôsob vydávania: Journal Article; Review

Informácie o časopise: Publisher: Springer Verlag Country of Publication: United States NLM ID: 7905481 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-0827 (Electronic) Linking ISSN: 0171967X NLM ISO Abbreviation: Calcif Tissue Int Subsets: MEDLINE

Výrazy zo slovníka MeSH: Rare Diseases*/therapy , Rare Diseases*/epidemiology , Bone Diseases, Metabolic*/therapy , Bone Diseases, Metabolic*/epidemiology , Bone Diseases, Metabolic*/diagnosis , Bone Diseases, Metabolic*/genetics, Humans ; Female ; Male ; Registries ; Adult ; India/epidemiology ; Adolescent ; Middle Aged ; Young Adult ; Child ; Osteogenesis Imperfecta ; Hypophosphatasia

Fibrous Dysplasia/McCune-Albright Syndrome

Autori: Boyce AM Florenzano P de Castro LF a ďalší

Zdroj: 1993.

Zdroj: In: GeneReviews ^® Adam MP; Ardinger HH; Pagon RA; Wallace SE; Bean LJH; Gripp KW; Mirzaa GM; Amemiya A

Spôsob vydávania: Review

Informácie o časopise: Publisher: University of Washington, Seattle Cited Medium: Internet