Keywords: دیسپلازی اسکلتی; Genetic; Short stature; Skeletal dysplasia; Syndrome; Adult height;
مقالات ISI دیسپلازی اسکلتی (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: دیسپلازی اسکلتی; achondroplasia; hypophosphatasia; next generation sequencing; osteochondrodysplasia; pseudoachondroplasia; radiology; skeletal dysplasia; spondyloepiphyseal dysplasia congenita;
Keywords: دیسپلازی اسکلتی; Thanatophoric dysplasia; Biparietal diameter; Femur length; Skeletal dysplasia; Lethal skeletal dysplasia;
Keywords: دیسپلازی اسکلتی; Arthroplasty; Kashin-Beck disease; Osteoarthritis; Skeletal dysplasia;
Keywords: دیسپلازی اسکلتی; taper fluted stem; complex primary; arthroplasty; dysplasia; skeletal dysplasia; survival;
Keywords: دیسپلازی اسکلتی; Bracing; Kyphosis; Skeletal dysplasia; Spine; Spondylometaphyseal dysplasia;
Keywords: دیسپلازی اسکلتی; Skeletal dysplasia; Osteosclerosis; FAM20C; Respiratory distress
Keywords: دیسپلازی اسکلتی; brachycephaly; disproportionate dwarfism; sheep; skeletal dysplasia;
Keywords: دیسپلازی اسکلتی; bone diseases, developmental/diagnosis; diagnosis, differential; dwarfism/etiology; humans; physical examination; skeletal dysplasia;
Keywords: دیسپلازی اسکلتی; Resistance to thyroid hormone; Thyroid hormone receptor alpha; Dominant negative; Skeletal dysplasia;
Keywords: دیسپلازی اسکلتی; SMARCAL1; SIOD; Skeletal dysplasia; Nephropathy; Immunodeficiency
Keywords: دیسپلازی اسکلتی; Achondroplasia; Kyphosis; Prevalence; Scoliosis; Skeletal dysplasia
Clinical findings and mutation analysis of NF1 patients in Turkey
Keywords: دیسپلازی اسکلتی; NF1; neurofibromatosis type 1; GTPase; Ras guanosine triphosphatase; NIH; National Institutes of Health; SSCP; single strand conformation polymorphism; HRM; High Resolution Melting Curve; CLS; café-au-lait spots; CN; cutaneous neurofibromas; LN; lisch no
On engagement with anthropology: A critical evaluation of skeletal and developmental abnormalities in the Atacama preterm baby and issues of forensic and bioarchaeological research ethics. Response to Bhattacharya et al. “Whole-genome sequencing of Atacam
Keywords: دیسپلازی اسکلتی; Ata; Genomic analyses; Foetal skeletal development; Skeletal dysplasia; Research ethics; Chile;
Early-Onset Spinal Deformity in Skeletal Dysplasias: A Multicenter Study of Growth-Friendly Systems
Keywords: دیسپلازی اسکلتی; Skeletal dysplasia; Early-onset scoliosis; Kyphosis; Growing rods;
Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice
Keywords: دیسپلازی اسکلتی; Hypophosphatasia; Alkaline phosphatase; ALPL; Skeletal dysplasia; Enzyme replacement therapy; Asfotase alfa; Orphan drug;
Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition
Keywords: دیسپلازی اسکلتی; Skeletal dysplasia; GM1 gangliosidosis; Lysosome; Natural history;
Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7
Keywords: دیسپلازی اسکلتی; MAP3K7; TAK1; Frontometaphyseal dysplasia 2; Skeletal dysplasia; Growth retardation;
Diagnóstico ecográfico de 2 casos de displasias esqueléticas con alteración en la mineralización. Papel de la ecografÃa 3D
Keywords: دیسپلازی اسکلتی; Hipomineralización; Displasia esquelética; Acondrogénesis; Osteogénesis imperfecta; Hypomineralisation; Skeletal dysplasia; Achondrogenesis; Osteogenesis imperfecta;
Review articleSkeletal dysplasia: Respiratory management during infancy
Keywords: دیسپلازی اسکلتی; Infants; Respiratory; Skeletal dysplasia;
ARQ 087 inhibits FGFR signaling and rescues aberrant cell proliferation and differentiation in experimental models of craniosynostoses and chondrodysplasias caused by activating mutations in FGFR1, FGFR2 and FGFR3
Keywords: دیسپلازی اسکلتی; ARQ 087; Fibroblast growth factor receptor; FGFR; Skeletal dysplasia; Achondroplasia; Craniosynostosis; Inhibitor;
A novel ACVR1 mutation detected by whole exome sequencing in a family with an unusual skeletal dysplasia
Keywords: دیسپلازی اسکلتی; Whole exome sequencing; ACVR1; Skeletal dysplasia; Fibrodysplasia ossificans progressiva; FOP variant
Altered FGF signalling in congenital craniofacial and skeletal disorders
Keywords: دیسپلازی اسکلتی; FGF signalling; FGFR1; FGFR2; FGFR3; Bone development; Craniosynostosis; Skeletal dysplasia;
Phenotypic variability of TRPV4 related neuropathies
Keywords: دیسپلازی اسکلتی; Axonal neuropathy; Skeletal dysplasia; Transient receptor potential vanilloid 4 gene; Hereditary motor and sensory neuropathy type 2C; Scapuloperoneal spinal muscular atrophy; Congenital distal spinal muscular atrophy;
Low Bone Mineral Content and Challenges in Interpretation of Dual-Energy X-Ray Absorptiometry in Children With Mucopolysaccharidosis Types I, II, and VI
Keywords: دیسپلازی اسکلتی; Bone mineral content; bone mineral density; mucopolysaccharidoses; osteoporosis; skeletal dysplasia;
Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome
Keywords: دیسپلازی اسکلتی; Hajdu-Cheney syndrome; NOTCH2 mutation; Osteoporosis; Acro-osteolysis; Skeletal dysplasia;
Growing up different in Neolithic China: A contextualised case study and differential diagnosis of a young adult with skeletal dysplasia
Keywords: دیسپلازی اسکلتی; Skeletal dysplasia; Neolithic China; Bioarchaeology of care; Lifecourse; 骨åè²å¼å¸¸; ä¸å½æ°ç³å¨æ¶ä»£; æ¤çå¦ççç©èå¤ç 究; çå½åç¨;
Orthopaedic manifestations of achondroplasia
Keywords: دیسپلازی اسکلتی; achondroplasia; Fibroblast Growth Factor Receptor 3; natriuretic peptide; skeletal dysplasia; thoracolumbar kyphosis
Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1
Keywords: دیسپلازی اسکلتی; Copy number variation; Skeletal dysplasia; Autosomal recessive osteopetrosis; Infantile malignant osteopetrosis type 5; OPTB5; OSTM1
Evaluation of Suspected Fetal Skeletal Dysplasia for the Referring Physician
Keywords: دیسپلازی اسکلتی; Fetus; Osteochondrodysplasia; Prenatal diagnosis; Skeletal dysplasia; Ultrasonography;
Osteological evidence of short-limbed dwarfism in a nineteenth century Dutch family: Achondroplasia or hypochondroplasia
Keywords: دیسپلازی اسکلتی; Dwarfism; Skeletal dysplasia; Historic cemetery; Family history
Complex malformation (Ruggieri–Happle) phenotype with “cutis tricolor” in a 10-year-old girl
Keywords: دیسپلازی اسکلتی; Cutis tricolor; Skeletal dysplasia; Neurocutaneous syndrome; Mosaicism; Skin
TRPV4 axonal neuropathy spectrum disorder
Keywords: دیسپلازی اسکلتی; Axonal neuropathy; Skeletal dysplasia; TRPV4; Vocal cord paralysis
Otolaryngologic Manifestations of Skeletal Dysplasias in Children
Keywords: دیسپلازی اسکلتی; Skeletal dysplasia; Achondroplasia; Osteogenesis imperfecta; Hearing loss; Obstructive sleep apnea;
Deficiencia femoral focal proximal. Diagnóstico prenatal
Keywords: دیسپلازی اسکلتی; Deficiencia femoral focal proximal; Diagnóstico prenatal; Displasia esquelética; Proximal focal femoral deficiency; Prenatal diagnosis; Skeletal dysplasia;
Imaging of Musculoskeletal Abnormalities with 3-Dimensional Ultrasonography, CT, and MR Imaging
Keywords: دیسپلازی اسکلتی; Skeletal dysplasia; Three-dimensional ultrasonography; Computed tomography; Magnetic resonance imaging;
Genetic diseases of bones and joints
Keywords: دیسپلازی اسکلتی; Skeletal dysplasia; Single gene disorders;
The molecular basis of the cartilage-hair hypoplasia–anauxetic dysplasia spectrum
Keywords: دیسپلازی اسکلتی; cartilage-hair hypoplasia; metaphyseal dysplasia without hypotrichosis; anauxetic dysplasia; RMRP; RNase MRP; rRNA; mRNA; cleavage activity; skeletal dysplasia; anemia; defect cellular immunity
FGFR3 signaling induces a reversible senescence phenotype in chondrocytes similar to oncogene-induced premature senescence
Keywords: دیسپلازی اسکلتی; FGFR3; Oncogene; Skeletal dysplasia; Cartilage; MAP kinase; Senescence
Molecular assessment of thymic capacities in patients with Schimke immuno-osseous dysplasia
Keywords: دیسپلازی اسکلتی; Schimke; SIOD; Skeletal dysplasia; Thymus; Immunodeficiency; TREC; TCR; SMARCAL1;
Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature
Keywords: دیسپلازی اسکلتی; Familial osteochondritis dissecans; Osteoarthritis; Skeletal dysplasia; Autosomal dominant; Cartilage
Potential role of WISP3 (CCN6) in regulating the accumulation of reactive oxygen species
Keywords: دیسپلازی اسکلتی; WISP3; CCN6; Connective tissue; Skeletal dysplasia; ROS; Nitration; Carbonylation
Severe skeletal dysplasia caused by undiagnosed hypothyroidism
Keywords: دیسپلازی اسکلتی; Congenital hypothyroidism; Ectopic thyroid; Skeletal deformities; Skeletal dysplasia; PAX8
Sustained phosphorylation of mutated FGFR3 is a crucial feature of genetic dwarfism and induces apoptosis in the ATDC5 chondrogenic cell line via PLCγ-activated STAT1
Keywords: دیسپلازی اسکلتی; FGFR3; Skeletal dysplasia; Phosphorylation; ER localization; STAT1
Morquio syndrome
Keywords: دیسپلازی اسکلتی; Morquio syndrome; MPS IV; Mucopolysaccharidoses; Skeletal dysplasia
The role of ultrasound in the accurate diagnosis of a case of thanatophoric dysplasia
Keywords: دیسپلازی اسکلتی; Thanatophoric dysplasia; Skeletal dysplasia; Antenatal ultrasound; Musculoskeletal; Paediatric
Subglottic stenosis in short-statured children: A case for further investigation of airway symptoms in patients with skeletal dysplasias
Keywords: دیسپلازی اسکلتی; Laryngotracheal reconstruction; Laryngotracheoplasty; Skeletal dysplasia