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Journal of Postgraduate Medical Institute, ISSN 1013-5472, 03/2019, Volume 33, Issue 1, p. 86
Journal Article
Nature, ISSN 0028-0836, 2014, Volume 513, Issue 7519, pp. 507 - 511
Gain-of-function mutations in the fibroblast growth factor receptor 3 gene (FGFR3) result in skeletal dysplasias, such as thanatophoric dysplasia and... 
APOPTOSIS | STEM-CELLS | ACTIVATION | THANATOPHORIC DYSPLASIA | CHONDROCYTES | MULTIDISCIPLINARY SCIENCES | GROWTH-FACTOR RECEPTOR-3 | MICE | MUTATIONS | HUMAN ACHONDROPLASIA | CARTILAGE | Hydroxymethylglutaryl-CoA Reductase Inhibitors - administration & dosage | Chondrocytes - cytology | Lovastatin - pharmacology | Cartilage - pathology | Achondroplasia - pathology | Male | Cartilage - drug effects | Fluorobenzenes - administration & dosage | Thanatophoric Dysplasia - pathology | Fluorobenzenes - pharmacology | Receptor, Fibroblast Growth Factor, Type 3 - deficiency | Cartilage - cytology | Female | Cell Differentiation | Induced Pluripotent Stem Cells - cytology | Achondroplasia - drug therapy | Thanatophoric Dysplasia - genetics | Achondroplasia - genetics | Disease Models, Animal | Induced Pluripotent Stem Cells - pathology | Lovastatin - therapeutic use | Chondrocytes - pathology | Receptor, Fibroblast Growth Factor, Type 3 - genetics | Bone Development - drug effects | Pyrimidines - administration & dosage | Mice, Inbred C57BL | Rosuvastatin Calcium | Pyrimidines - pharmacology | Sulfonamides - pharmacology | Phenotype | Animals | Hydroxymethylglutaryl-CoA Reductase Inhibitors - pharmacology | Sulfonamides - therapeutic use | Pyrimidines - therapeutic use | Hydroxymethylglutaryl-CoA Reductase Inhibitors - therapeutic use | Thanatophoric Dysplasia - drug therapy | Mice | Fluorobenzenes - therapeutic use | Sulfonamides - administration & dosage | Achondroplasia | Radiography | Care and treatment | Usage | Analysis | Diagnosis | Protein kinases | Genotype & phenotype | Transcription factors | Disease | Mutation | Kinases | Patients | Statins
Journal Article
Indian Journal of Anaesthesia, ISSN 0019-5049, 09/2010, Volume 54, Issue 5, pp. 481 - 482
Journal Article
02/2013
Introduction: Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of... 
Achondroplasia | genetics | dwarfism | archaeology
Web Resource
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2016, Volume 170, Issue 11, pp. 2882 - 2888
The current observational study had three specific objectives: (i) to document any neuropsychological impairment in a sample of children with achondroplasia;... 
neuropsychological profile | achondroplasia | cognition | behavior | HYDROCEPHALUS | PERFORMANCE | SKILLS | GENETICS & HEREDITY | Intelligence | Achondroplasia - diagnosis | Humans | Memory | Attention | Child, Preschool | Achondroplasia - psychology | Male | Cognition | Achondroplasia - physiopathology | Neuropsychological Tests | Phenotype | Adolescent | Female | Child | Executive Function | Achondroplasia - therapy | Children
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 05/2016, Volume 126, Issue 5, pp. 1871 - 1884
Achondroplasia (ACH) is the most frequent form of dwarfism and is caused by gain-of-function mutations in the fibroblast growth factor receptor 3-encoding... 
MEDICINE, RESEARCH & EXPERIMENTAL | ACHONDROPLASIA | PROMOTES BONE-GROWTH | THANATOPHORIC DYSPLASIA | GENE | STAT1 | GROWTH-FACTOR RECEPTOR-3 | CHONDROCYTE PROLIFERATION | DIFFERENTIATION | FGFR3 MUTATION | SKELETAL DEVELOPMENT | Humans | Achondroplasia - pathology | Receptor, Fibroblast Growth Factor, Type 3 - metabolism | STAT1 Transcription Factor - metabolism | Achondroplasia - metabolism | MAP Kinase Signaling System - genetics | Mice, Mutant Strains | HEK293 Cells | Phospholipase C gamma - genetics | Intervertebral Disc - pathology | Achondroplasia - drug therapy | Chondrocytes - metabolism | Achondroplasia - genetics | Disease Models, Animal | SOX9 Transcription Factor - metabolism | Chondrocytes - pathology | Receptor, Fibroblast Growth Factor, Type 3 - genetics | Phospholipase C gamma - metabolism | Lumbar Vertebrae - metabolism | Intervertebral Disc - metabolism | Pyrimidines - pharmacology | STAT1 Transcription Factor - genetics | Animals | MAP Kinase Signaling System - drug effects | Lumbar Vertebrae - pathology | Mice | Phenylurea Compounds - pharmacology | SOX9 Transcription Factor - genetics | Cell Line, Transformed | Tyrosine | Dwarfism | Embryonic development | Phenols | Bank clearinghouses | Fibroblast growth factors | Health aspects | Genotype & phenotype | Phosphorylation | Bones | Vertebra | Software | Mutation | Polyclonal antibodies
Journal Article
2008, Par thengs 1., ISBN 9787105094974, 2, 2, 3, 116 pages
Study on treatment and prevention of achondroplasia according to Tibetan ayurvedic medical system. 
Achondroplasia | Medicine, Tibetan | China | Bones | Diseases
Book
Ultrasound in obstetrics & gynecology, ISSN 0960-7692, 2011, Volume 37, Issue 3, pp. 283 - 289
Journal Article
Lancet, The, ISSN 0140-6736, 2007, Volume 370, Issue 9582, pp. 162 - 172
Journal Article
The Journal of pharmacology and experimental therapeutics, ISSN 0022-3565, 04/2015, Volume 353, Issue 1, pp. 132 - 149
Journal Article
Journal Article