Results 171 to 180 of about 4,767,425 (261)

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell   +16 more
wiley   +1 more source

Late effects following CAR T cells and HCT in children and young adults with B-cell acute lymphoblastic leukemia

open access: yesBlood Immunology & Cellular Therapy
Bonnie Yates   +10 more
doaj   +1 more source

Exploring the Social and Stigma-Related Lived Experiences of Pediatric Cancer Survivors in a Canadian Province. [PDF]

open access: yesCurr Oncol
Siddique R   +6 more
europepmc   +1 more source

Atypical X‐Linked Severe Combined Immunodeficiency in a Patient With Early‐Onset Inflammatory Bowel Disease

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Primary immunodeficiency disorders may present with gastrointestinal inflammation resembling inflammatory bowel disease (IBD), particularly in patients with pediatric or very‐early‐onset disease. We report a 24‐year‐old male with lifelong immune dysregulation and early‐onset IBD who was ultimately found to carry a hemizygous intronic IL2RG ...
Agustina Fainguersch   +9 more
wiley   +1 more source

Environmental Exposures, Chronic Sinusitis, and Olfaction in People With Cystic Fibrosis

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Environmental air pollutants may contribute to chronic rhinosinusitis (CRS), but their relationship with upper airway disease in people with cystic fibrosis (CF) remains poorly understood. This study evaluated associations between long‐term ambient air pollutant exposure and CRS severity and olfactory dysfunction in adults with CF ...
Benton Tullis   +31 more
wiley   +1 more source

Establishment of Patient-Derived Organoids for Pediatric Cancer Research. [PDF]

open access: yesCancers (Basel)
Younis M   +13 more
europepmc   +1 more source

Healing Following Endoscopic Reconstruction of the Anterior Skull Base in Patients With Sinonasal Malignancies

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Healing dynamics after anterior skull base (ASB) reconstruction following transnasal endoscopic surgery (TES) for sinonasal malignancies remain poorly characterized. This study aimed to describe the postoperative healing process, quantify time to healing, identify factors influencing healing, and assess radiologic evolution over ...
Giacomo Contro   +22 more
wiley   +1 more source

Microbial‐Metabolite Signatures Are Associated With Glucocorticoid Responsiveness in Chronic Rhinosinusitis With Nasal Polyps

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Patients with chronic rhinosinusitis with nasal polyps (CRSwNP) exhibit heterogeneous responses to oral glucocorticoids (GCs), but the biological basis of this variability remains unclear. Objective To identify gut microbiome‒plasma metabolomic signatures associated with GC responsiveness in CRSwNP patients and to compare their ...
Ying‐Ying Zhang   +7 more
wiley   +1 more source

Home - About - Disclaimer - Privacy