Results 221 to 230 of about 22,210,683 (294)
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
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
Karyomorphometric Differentiation and Karyotype Asymmetry in Five Rare <i>Zingiber</i> Species from Thailand. [PDF]
Saensouk P +5 more
europepmc +1 more source
Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age‐Dependent Clinical Trajectory
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
Optical genome mapping refines diagnosis of high-grade myeloid neoplasms through detection of MECOM rearrangements cryptic to conventional karyotype. [PDF]
Salcedo-Porras N +4 more
europepmc +1 more source
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
Pure erythroid leukaemia in early infancy: Diagnostic pitfalls and clinical challenges
British Journal of Haematology, EarlyView.
Riccardo De Carli +5 more
wiley +1 more source
Abstract In well‐studied groups of organisms, the taxonomic landscape can be very complex, with several alternative classifications describing diversity within the same set of populations. For example, three hypotheses have previously been proposed to describe the taxonomy of the common and widespread Eurasian Dusky Meadow Brown butterfly, Hyponephele ...
Elena A. Pazhenkova +1 more
wiley +1 more source
CSTB deficient EPM1 iPS cells manifest increased lysosomal activity and oxidative stress, which lead to DNA damage, cell cycle defects and increased apoptosis. As a protective response, metabolism is suppressed. Image created by BioRender https://BioRender.com/t44oc6h.
Shekhar Singh +4 more
wiley +1 more source

