Results 191 to 200 of about 11,039 (220)
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Journal of pediatric orthopedics, 2023
Background: Achondroplasia is the most prevalent form of skeletal dysplasia, affecting more than 250,000 individuals. Lower extremity angular deformities, particularly genu varum, are common in children with achondroplasia, often resulting in pain and ...
C. Makarewich, Emily Zhang, P. Stevens
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Background: Achondroplasia is the most prevalent form of skeletal dysplasia, affecting more than 250,000 individuals. Lower extremity angular deformities, particularly genu varum, are common in children with achondroplasia, often resulting in pain and ...
C. Makarewich, Emily Zhang, P. Stevens
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Journal of Neurosurgery: Pediatrics, 2023
OBJECTIVE Pediatric achondroplasia is often associated with conditions requiring neurosurgical intervention, including CSF diversion and multilevel spinal decompression.
O. Akinnusotu +3 more
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OBJECTIVE Pediatric achondroplasia is often associated with conditions requiring neurosurgical intervention, including CSF diversion and multilevel spinal decompression.
O. Akinnusotu +3 more
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The Lancet, 2007
Achondroplasia is the most common form of short limb dwarfism in human beings, affecting more than 250,000 individuals worldwide. More than 95% of patients have the same point mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) and more than 80% of these are new mutations. The mutation, which causes gain of FGFR3 function, affects many
William A, Horton +2 more
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Achondroplasia is the most common form of short limb dwarfism in human beings, affecting more than 250,000 individuals worldwide. More than 95% of patients have the same point mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) and more than 80% of these are new mutations. The mutation, which causes gain of FGFR3 function, affects many
William A, Horton +2 more
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The Journal of Bone and Joint Surgery. British volume, 1981
A thoracolumbar gibbus is an uncommon but potentially dangerous feature of achondroplasia. In a series of unselected South African Negro achondroplasts, nine out of 17 had an abnormality of this type. In contrast, only one girl out of 20 affected individuals of European or mixed ancestry had a gibbus.
P, Beighton, C A, Bathfield
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A thoracolumbar gibbus is an uncommon but potentially dangerous feature of achondroplasia. In a series of unselected South African Negro achondroplasts, nine out of 17 had an abnormality of this type. In contrast, only one girl out of 20 affected individuals of European or mixed ancestry had a gibbus.
P, Beighton, C A, Bathfield
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The Pediatric clinics of North America
Disclosure: C. McDonnell: Ascendis Pharma, BioMarin, Pfizer, Inc. H. Hove: Ascendis Pharma, Pfizer, Inc.. J.M. Legare: None. P.M. Campeau: Ascendis Pharma, BioMarin, Ipsen, Pfizer, Inc., Takeda. P.L. Hofman: Eli Lilly & Company, Novo Nordisk.
Ciara Mcdonnell +15 more
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Disclosure: C. McDonnell: Ascendis Pharma, BioMarin, Pfizer, Inc. H. Hove: Ascendis Pharma, Pfizer, Inc.. J.M. Legare: None. P.M. Campeau: Ascendis Pharma, BioMarin, Ipsen, Pfizer, Inc., Takeda. P.L. Hofman: Eli Lilly & Company, Novo Nordisk.
Ciara Mcdonnell +15 more
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Achondroplasia and obstructive sleep apnea: surgical outcomes and comparison to general population
Journal of Clinical Sleep Medicine (JCSM)The objective was to compare demographics between children with achondroplasia and obstructive sleep apnea (OSA) with the general pediatric population with OSA, as well as present treatment outcomes for children with achondroplasia.
Claudio Gomez Ascencio +2 more
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Journal of Medicinal Chemistry
Activating FGFR3 alterations have been identified in up to 15-20% of muscle-invasive bladder cancer and metastatic urothelial carcinoma (mUC), and as high as 80% in nonmuscle invasive bladder cancers.
Robert L Hudkins +13 more
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Activating FGFR3 alterations have been identified in up to 15-20% of muscle-invasive bladder cancer and metastatic urothelial carcinoma (mUC), and as high as 80% in nonmuscle invasive bladder cancers.
Robert L Hudkins +13 more
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Oral Infigratinib Therapy in Children with Achondroplasia.
New England Journal of MedicineBACKGROUND Achondroplasia is a genetic skeletal condition that results in disproportionately short stature and medical complications throughout life. Infigratinib is an orally bioavailable FGFR1-3 selective tyrosine kinase inhibitor in development for ...
Ravi Savarirayan +25 more
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