Results 161 to 170 of about 213,329 (290)

Mitigating HLA Disparity in AML Transplantation: Comparable Outcomes After Haploidentical and 9/10 Mismatched Unrelated Donor Transplantation With Treosulfan and PTCy

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Allogeneic hematopoietic stem cell transplantation (allo‐HSCT) is a potentially curative strategy for acute myeloid leukemia (AML), but the impact of HLA disparity in the era of posttransplant cyclophosphamide (PTCy) and reduced‐toxicity conditioning remains unclear. We performed an EBMT registry study including 275 adult AML patients in first
Daniele Avenoso   +21 more
wiley   +1 more source

Phase II Study of Posttransplant Cyclophosphamide‐Based Graft‐Versus‐Host Disease Prophylaxis After HLA‐Mismatched Unrelated Donor Reduced Intensity Transplantation: Results From the ACCESS Trial Expansion Cohort

open access: yesAmerican Journal of Hematology, EarlyView.
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

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda   +5 more
wiley   +1 more source

Validation of low-volume plasma dilution protocols for human cytomegalovirus DNA quantification using the cobas CMV assay. [PDF]

open access: yesMicrobiol Spectr
Lim G   +10 more
europepmc   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice   +10 more
wiley   +1 more source

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