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About 1,425 results

ALLMedicine™ Achondroplasia Center

Research & Reviews  697 results

Obstructive sleep apnea in Norwegian adults with achondroplasia: a population-based study.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8028078
Orphanet Journal of Rare Diseases; Fredwall SO, Øverland B et. al.

Apr 8th, 2021 - Previous studies have found a high prevalence of obstructive sleep apnea (OSA) in children with achondroplasia, but clinical studies on this complication in adults with achondroplasia are lacking. This population-based, cross-sectional study inves...

Use of postoperative neurophysiological testing to help guide management in a case of d...
https://doi.org/10.1007/s00381-021-05071-5 10.3171/2013.2.JNS121752 10.1227/NEU.0b013e31823f5ade 10.4103/0028-3886.198189 10.4103/0019-5413.58608 10.1016/j.clinph.2013.07.025 10.1097/BRS.0b013e3181f6f0d0 10.1213/ANE.0000000000001503 10.12998/wjcc.v3.i9.765 10.1007/s00586-018-5861-0 10.1097/BRS.0b013e3181e53434 10.4103/2152-7806.85606 10.1097/BRS.0000000000002900
Child's Nervous System : ChNS : Official Journal of the I... Kanuparthi SPV, Pahys JM et. al.

Mar 30th, 2021 - Bimodal intraoperative neuromonitoring (IONM), combining transcranial motor-evoked potentials (tcMEP) and somatosensory-evoked potentials (SSEP), enables real-time detection and prevention of spinal cord injury during pediatric spinal deformity co...

An Fgfr3-activating mutation in immature osteoblasts affects the appendicular and crani...
https://doi.org/10.1242/dmm.048272
Disease Models & Mechanisms; Duplan MB, Dambroise E et. al.

Mar 19th, 2021 - Achondroplasia (ACH), the most common form of dwarfism is caused by a missense mutation in the gene coding for fibroblast growth factor receptor 3 (FGFR3). The resulting increase in FGFR3 signaling perturbs the proliferation and differentiation of...

Childhood prevalence of achondroplasia in New South Wales and the Australian Capital Te...
https://doi.org/10.1002/ajmg.a.62142
American Journal of Medical Genetics. Part A; Tofts L, Armstrong J et. al.

Feb 27th, 2021 - The aim of this study was to estimate the childhood prevalence of achondroplasia, trends over time in birth prevalence, and age at diagnosis in Australia. Children born between 1990 and 2019 with a clinical and radiological and/or molecular diagno...

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Clinicaltrials.gov  715 results

Obstructive sleep apnea in Norwegian adults with achondroplasia: a population-based study.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8028078
Orphanet Journal of Rare Diseases; Fredwall SO, Øverland B et. al.

Apr 8th, 2021 - Previous studies have found a high prevalence of obstructive sleep apnea (OSA) in children with achondroplasia, but clinical studies on this complication in adults with achondroplasia are lacking. This population-based, cross-sectional study inves...

Use of postoperative neurophysiological testing to help guide management in a case of d...
https://doi.org/10.1007/s00381-021-05071-5 10.3171/2013.2.JNS121752 10.1227/NEU.0b013e31823f5ade 10.4103/0028-3886.198189 10.4103/0019-5413.58608 10.1016/j.clinph.2013.07.025 10.1097/BRS.0b013e3181f6f0d0 10.1213/ANE.0000000000001503 10.12998/wjcc.v3.i9.765 10.1007/s00586-018-5861-0 10.1097/BRS.0b013e3181e53434 10.4103/2152-7806.85606 10.1097/BRS.0000000000002900
Child's Nervous System : ChNS : Official Journal of the I... Kanuparthi SPV, Pahys JM et. al.

Mar 30th, 2021 - Bimodal intraoperative neuromonitoring (IONM), combining transcranial motor-evoked potentials (tcMEP) and somatosensory-evoked potentials (SSEP), enables real-time detection and prevention of spinal cord injury during pediatric spinal deformity co...

An Fgfr3-activating mutation in immature osteoblasts affects the appendicular and crani...
https://doi.org/10.1242/dmm.048272
Disease Models & Mechanisms; Duplan MB, Dambroise E et. al.

Mar 19th, 2021 - Achondroplasia (ACH), the most common form of dwarfism is caused by a missense mutation in the gene coding for fibroblast growth factor receptor 3 (FGFR3). The resulting increase in FGFR3 signaling perturbs the proliferation and differentiation of...

Childhood prevalence of achondroplasia in New South Wales and the Australian Capital Te...
https://doi.org/10.1002/ajmg.a.62142
American Journal of Medical Genetics. Part A; Tofts L, Armstrong J et. al.

Feb 27th, 2021 - The aim of this study was to estimate the childhood prevalence of achondroplasia, trends over time in birth prevalence, and age at diagnosis in Australia. Children born between 1990 and 2019 with a clinical and radiological and/or molecular diagno...

see more →

News  11 results

Vosoritide Ups Height in Achondroplasia in Year-Long Phase 3 Study
https://www.staging.medscape.com/viewarticle/939744

Oct 25th, 2020 - A year of daily subcutaneous vosoritide was associated with a 0.6-inch (1.5-cm) greater increase in height than placebo in children with achondroplasia, the most common form of human dwarfism. There was no difference in the incidence of side effec...

Vosoritide Ups Height in Achondroplasia in Year-Long Phase 3 Study
https://www.medscape.com/viewarticle/939744

Oct 25th, 2020 - A year of daily subcutaneous vosoritide was associated with a 0.6-inch (1.5-cm) greater increase in height than placebo in children with achondroplasia, the most common form of human dwarfism. There was no difference in the incidence of side effec...

Health Supervision Guidance for Achondroplasia Patients Updated
https://www.medscape.com/viewarticle/931243

May 28th, 2020 - (Reuters Health) - New clinical guidance from the American Academy of Pediatrics (AAP) on health supervision across the lifespan of people with achondroplasia focuses on recent advances in technology that can help diagnose and manage patients with...

Vosoritide Boosts Growth in Kids With Achondroplasia
https://www.medpagetoday.com/pediatrics/growthdisorders/80559

Jun 18th, 2019 - Children with achondroplasia, the genetic bone growth disorder that causes disproportionate dwarfism, saw sustained increases in annualized growth velocity with an investigational C-type natriuretic peptide analogue called vosoritide, researchers ...

Novel Agent Shows Promise as First Possible Therapy for Achondroplasia
https://www.staging.medscape.com/viewarticle/914534

Jun 17th, 2019 - The results are preliminary, but a novel investigative agent has shown promise in a small trial in children for the treatment of achondroplasia, the most common form of human dwarfism. A phase 2 proof of concept study found that treatment with vos...

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Patient Education  2 results see all →