Results 211 to 220 of about 385,840 (284)

Skeletal Dysplasias

, 2011
  +5 more sources

Expanding Spectrum of FIG4‐Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype–Phenotype Correlations

Clinical Genetics, Volume 110, Issue 3, Page 363-368, September 2026.
FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley   +1 more source

Boy in the Barrel: Excruciating Paroxysmal Pain Disorder Associated With an SCN9A Gain‐of‐Function Variant

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Background and Aims Gain‐of‐function variants in SCN9A, encoding the Nav1.7 sodium channel, cause inherited painful neuropathic disorders. We report a young man with severe childhood‐onset heat‐triggered paroxysmal pain, autonomic dysfunction, skeletal abnormalities, and a de novo SCN9A p.Ile234Thr variant, emphasizing the diagnostic and ...
Pedro Jose Tomaselli, Rodrigo Siqueira Soares Frezatti, Christopher J. Record, Maria Cristina Lopes Schiavoni, Natalia Dominik, Jana Vandrovcova, Mary M. Reilly, Wilson Marques Jr   +7 more
wiley   +1 more source

Skeletal dysplasia-causing mutations in TRPV4 alter the chondrocyte transcriptomic response to mechanical loading. [PDF]

Am J Physiol Cell Physiol
Harissa Z, Kim Y, Dicks AR, Steward N, Guilak F.   +4 more
europepmc   +1 more source

Patients in Every Practice: Health Status and Health Experiences of an International Sample of Adults Born Preterm

Journal of Nursing Scholarship, Volume 58, Issue 5, September 2026.
ABSTRACTIntroductionDue to the increased survival and stable prevalence rates of preterm birth, every clinician, regardless of the patient population or practice setting, has cared for someone born preterm. Unfortunately, most healthcare teams fail to consider preterm birth as a risk factor to adult health, missing a critical opportunity to mitigate ...
Michelle M. Kelly, Kathyrn King, Caitlyn Ng, Lauren Ingledow, Margaret Brace   +4 more
wiley   +1 more source

The use and experience of the national disability insurance scheme for Australians with skeletal dysplasia: a mixed-methods study. [PDF]

Orphanet J Rare Dis
Lai JHJ, Ireland P, Nguyen D, Woodbury A, Pacey V.   +4 more
europepmc   +1 more source

Soft tissue abnormalities in the congenital limb malformation radial dysplasia (RD): Their clinical impact and treatment significance

Journal of Anatomy, Volume 249, Issue 3, Page 457-475, September 2026.
We review the characteristic changes to the limb soft tissue and neurovascular abnormalities that have been described in the congenital limb birth defect, Radial Dysplasia. These include consistent changes in muscle anatomy or absence of specific muscles, persistent median arteries and absent radial arteries and consistent alterations in neural ...
Marco Correia Duarte, Sultan M. Al‐Zyoud, Eleanor M. Feneck, Duane James, Gillian D. Smith, Branavan Sivakumar, Malcolm P. O. Logan   +6 more
wiley   +1 more source

Skeletal dysplasias

Donald School Journal of Ultrasound in Obstetrics and Gynecology
Kenneth Ward, Pamela Grant
openaire   +2 more sources

Novel EXTL3 Variants Causing Neuro-Immuno-Skeletal Dysplasia. [PDF]

J Clin Immunol
Mehta SS, Wash U./N. I. H. EXTL3 Consortium, Bosticardo M, Notarangelo LD, Kitcharoensakkul M.   +4 more
europepmc   +1 more source

Evaluation for radiographic changes in the coxofemoral joint and proximal femur following intramedullary stabilisation of diaphyseal femoral fractures using angle‐stable interlocking nails in skeletally immature patients

Journal of Small Animal Practice, Volume 67, Issue 9, Page 774-784, September 2026.
Objectives To evaluate a juvenile dog population that sustained diaphyseal femoral fractures surgically stabilised with an angle‐stable interlocking nail and evaluate for evidence of proximal femoral malformation both periooperatively and at skeletal maturity.
L. M. Meneghetti, S. R. O'Neill, K. L. Perry   +2 more
wiley   +1 more source