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Sleep and sleep disorders in rare hereditary diseases: a reminder for the pediatrician, pediatric and adult neurologist, general practitioner, and sleep specialistSixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasiasMultiple consequences of a single amino acid pathogenic RTK mutation: the A391E mutation in FGFR3Meclozine facilitates proliferation and differentiation of chondrocytes by attenuating abnormally activated FGFR3 signaling in achondroplasiaEffect of the G375C and G346E achondroplasia mutations on FGFR3 activation.Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilageMedical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years.Physical basis behind achondroplasia, the most common form of human dwarfism.Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders.Identification of SPRED2 (sprouty-related protein with EVH1 domain 2) as a negative regulator of the hypothalamic-pituitary-adrenal axis.FGFR3 heterodimerization in achondroplasia, the most common form of human dwarfism.Genetic inactivation of ERK1 and ERK2 in chondrocytes promotes bone growth and enlarges the spinal canalA recurrent regulatory change underlying altered expression and Wnt response of the stickleback armor plates gene EDA.Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) PopulationPaleodysmorphology and paleoteratology: Diagnosing and interpreting congenital conditions of the skeleton in anthropological contexts.Cervical high-intensity intramedullary lesions in achondroplasia: aetiology, prevalence and clinical relevanceEndochondral Ossification Is Accelerated in Cholinesterase-Deficient Mice and in Avian Mesenchymal Micromass Cultures.De novo achondroplasia causing four consecutive unsuccessful pregnancies: a case report.FGFR3/fibroblast growth factor receptor 3 inhibits autophagy through decreasing the ATG12-ATG5 conjugate, leading to the delay of cartilage development in achondroplasiaComparative analysis of osteogenic/chondrogenic differentiation potential in primary limb bud-derived and C3H10T1/2 cell line-based mouse micromass cultures.Skeleton Genetics: a comprehensive database for genes and mutations related to genetic skeletal disorders.Meckel's and condylar cartilages anomalies in achondroplasia result in defective development and growth of the mandible.A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia.Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes.Measures of self-care independence for children with osteochondrodysplasia: a clinimetric review.FGFR3 targeting strategies for achondroplasia.Height matters-from monogenic disorders to normal variation.Detection of G1138A Mutation of the FGFR3 Gene in Tooth Material from a 180-Year-Old Museological Achondroplastic SkeletonAdvances in treatment of achondroplasia and osteoarthritis.The Relationship between Brachycephalic Head Features in Modern Persian Cats and Dysmorphologies of the Skull and Internal Hydrocephalus.Clinical dosage of meclozine promotes longitudinal bone growth, bone volume, and trabecular bone quality in transgenic mice with achondroplasia.A Novel Role for the BMP Antagonist Noggin in Sensitizing Cells to Non-canonical Wnt-5a/Ror2/Disheveled Pathway ActivationMolecular Physiology of Membrane Guanylyl Cyclase Receptors.Current Care and Investigational Therapies in Achondroplasia.Sleep disordered breathing in children with achondroplasia.Achondroplasia: Development, pathogenesis, and therapy.The natural history of thoracolumbar kyphosis in achondroplasia.FGFR3 is a target of the homeobox transcription factor SHOX in limb development.Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia.
P2860
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P2860
description
article publié dans la revue scientifique The Lancet
@fr
im Juli 2007 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published in The Lancet
@en
наукова стаття, опублікована в липні 2007
@uk
ശാസ്ത്രപ്രബന്ധം
@ml
name
Achondroplasia
@en
type
label
Achondroplasia
@en
prefLabel
Achondroplasia
@en
P1433
P1476
Achondroplasia
@en
P2093
Jacqueline T Hecht
William A Horton
P304
P356
10.1016/S0140-6736(07)61090-3
P407
P577
2007-07-01T00:00:00Z