Results 171 to 180 of about 19,041 (213)

Prenatal imaging phenotypes and outcomes of umbilical‐portal‐systemic venous shunts in singleton and twin pregnancies: A historical cohort study

open access: yesActa Obstetricia et Gynecologica Scandinavica, EarlyView.
This retrospective cohort compared umbilical‐portal‐systemic venous shunts in singleton and twin pregnancies. Type III was the most common subtype in singletons, whereas Type II was the most common in twins. Fetal growth restriction was more frequent in twins, but primary structural anomaly rates were similar.
Yun Zhang   +8 more
wiley   +1 more source

Predicted microbiome‐associated metabolic pathways are linked to immune checkpoint modulation in chronic lymphocytic leukaemia

open access: yesBritish Journal of Haematology, EarlyView.
Summary Microbial metabolites are key regulators of host immunity, yet their functional impact in chronic lymphocytic leukaemia (CLL) remains unclear. Following up on our earlier observations of microbiome dysbiosis in CLL, we performed predictive metabolic profiling based on 16S ribosomal RNA (rRNA) sequencing of oral and stool samples collected from ...
Monika Szelest   +15 more
wiley   +1 more source

A holocentric pangenome links karyotype evolution to meiotic recombination

open access: yes
Zhang M   +18 more
europepmc   +1 more source

Comparison of venetoclax and azacitidine versus a cytarabine‐based treatment for patients with acute myeloid leukaemia in first relapse after chemotherapy. A real‐world study of the DATAML‐IPC‐AURAML consortium

open access: yesBritish Journal of Haematology, EarlyView.
Summary Complete remission (CR) rates for patients with acute myeloid leukaemia (AML) treated with intensive chemotherapy (IC) have increasingly improved. Yet, relapse remains a concern with a dismal prognosis. In this report, results are presented of a retrospective analysis comparing salvage therapy based on intermediate (I) or high (H)‐dose ...
Pierre‐Yves Dumas   +22 more
wiley   +1 more source

Reduced‐dose versus standard‐dose total body irradiation before allogeneic haematopoietic stem cell transplantation in adults with acute lymphoblastic leukaemia

open access: yesBritish Journal of Haematology, EarlyView.
Summary Comparative data on reduced‐dose (8 Gy) versus standard‐dose (12 Gy) total body irradiation (TBI) before allogeneic haematopoietic stem cell transplantation (allo‐HSCT) for adults with acute lymphoblastic leukaemia (ALL) remain limited. We retrospectively analysed 101 adults undergoing first allo‐HSCT between 1999 and 2024 after 8 Gy or 12 Gy ...
Isabella Gruber   +7 more
wiley   +1 more source

Pubertal Dynamics of Sertoli and Leydig Cell Dysfunction in Klinefelter Syndrome

open access: yesClinical Endocrinology, EarlyView.
ABSTRACT Context Klinefelter syndrome (KS), defined by a 47, XXY karyotype, is commonly associated with progressive testicular failure. The precise timing of Sertoli and Leydig cell dysfunction during puberty remains unclear. Objective To determine the onset and progression of testicular insufficiency during puberty in KS, and to assess whether ...
Tredez Axelle   +9 more
wiley   +1 more source

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age‐Dependent Clinical Trajectory

open access: yesClinical Genetics, EarlyView.
Longitudinal evaluation of 11 individuals with ReNU syndrome revealed an age‐dependent multisystem trajectory. This longitudinal description may help clinicians anticipate changing needs in feeding, growth, neurological, visual, communication, behavioral, and orthopedic care. ABSTRACT Pathogenic variants in the noncoding gene RNU4‐2 cause ReNU syndrome,
Nadja Pekkola Pacheco   +14 more
wiley   +1 more source

Müllerian Duct Aplasia in a Girl With SMARCB1‐Related Coffin–Siris Syndrome: A Rare Co‐Occurring Anomaly

open access: yesClinical Genetics, EarlyView.
Genetic causes of Müllerian aplasia remain largely unknown. We report the first molecularly confirmed case of Coffin–Siris syndrome 3 caused by a de novo SMARCB1 variant presenting with Müllerian aplasia, supporting a potential association between BAF complex dysfunction and abnormal Müllerian duct development. Created in BioRender. Herlin, M. K. (2026)
Anneli C. S. Bolund   +5 more
wiley   +1 more source

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