Results 211 to 220 of about 474,985 (303)
ABSTRACT Posttransplant cyclophosphamide (PTCy) to prevent graft‐versus‐host disease (GVHD) improves outcomes in recipients of HLA mismatched unrelated donor (MMUD) allogeneic hematopoietic cell transplantation (allo HCT). Outcomes of MMUD HCT using PTCy in patients requiring reduced intensity or non‐myeloablative conditioning (RIC/NMA) are not well ...
Brian C. Shaffer +38 more
wiley +1 more source
Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan +5 more
wiley +1 more source
Exploring Long COVID diagnostic equity by sex, race and ethnicity, and insurance type. [PDF]
Petranu K +7 more
europepmc +1 more source
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins +9 more
wiley +1 more source
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright +10 more
wiley +1 more source
The use of race and ethnicity in air pollution epidemiology and methodological recommendations: A scoping review focusing on California. [PDF]
Dey AK +5 more
europepmc +1 more source
Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces
ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh +5 more
wiley +1 more source
Disparities in 2020 Life Expectancy by Race and Ethnicity in Hawai'i. [PDF]
Wu YY +4 more
europepmc +1 more source

