Results 101 to 110 of about 83,265 (294)
Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4‐Related Dysplasia
Clinical Genetics, EarlyView.Exploring the genotype and phenotype diversity in a Chinese cohort with TRPV4‐related dysplasia. ABSTRACT Dominant mutations in the calcium permeable ion channel TRPV4 (transient receptor potential vanilloid 4) typically result in skeletal dysplasia or peripheral neuromuscular disease.
Lina Dong +8 more
wiley +1 more source
Pulmonary Artery Cement Embolism after a Vertebroplasty
Case Reports in Orthopedics, 2015 Background Context. Vertebroplasty is a minimally invasive procedure most commonly used for the treatment of vertebral compression fractures. Although it is relatively safe, complications have been reported over time.
Anas Nooh +3 more
doaj +1 more source
Clinical Genetics, EarlyView.A nuclear family affected by distal arthrogryposis with novel biallelic MYH3 variants, which at the heterozygous state yield a subclinical phenotype, highlighting the complexity of MYH3‐related disorders and their inheritance modes. ABSTRACT Distal arthrogryposis constitutes a highly heterogeneous group of disorders with a critical need for clear ...
Omar Zgheib +6 more
wiley +1 more source
Evaluation of the iPhone with an acrylic sleeve versus the Scoliometer for rib hump measurement in scoliosis [PDF]
, 2012 Maree T. Izatt +2 more
openalex +1 more source
SAGITTAL BALANCE IN ADOLESCENT IDIOPATHIC SCOLIOSIS
, 2022 Eduardo Moreira Pinto +3 more
openalex +1 more source
Clinical Genetics, EarlyView.This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau +7 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.Abstract Aim To evaluate medium‐term surgical outcomes, complications, mortality, and health‐related quality of life (HRQoL) in non‐ambulatory children with cerebral palsy (CP) and severe scoliosis, and to analyse outcomes and mortality rates in children who had not undergone surgery.
Svend Vinje +4 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70051 Abstract Aim To describe the real‐world effects of trofinetide in individuals with Rett syndrome (RTT) using the 18‐month follow‐up analysis of the LOTUS study. Method Caregivers of any patients who were prescribed trofinetide under routine clinical care were eligible to ...
Louise Cosand +3 more
wiley +1 more source