Results 151 to 160 of about 5,499,505 (307)

Cytogenetic Diversity of Variant Philadelphia Translocations in Chronic Myeloid Leukemia

open access: yesInternational Journal of Laboratory Hematology, EarlyView.
ABSTRACT Introduction Chronic myeloid leukemia (CML) is a disease characterized by Philadelphia (Ph) translocations. These translocations can be classical or variant. The structural features and diagnostic implications of variant Philadelphia translocations remain incompletely defined, and they display considerable cytogenetic heterogeneity. Methods In
Ayse Gul Bayrak Tokac   +10 more
wiley   +1 more source

Exploring Parents' Values in Healthcare Decision‐Making for Rare Genetic Neurodevelopmental Disorders: A Qualitative Study to Inform Guideline Development

open access: yesJournal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders associated with intellectual disabilities can be complex and value‐laden, in which parents often play a central role. To ensure that clinical practice guideline recommendations align with the perspectives of parents, it is essential to ...
Mirthe J. Klein Haneveld   +6 more
wiley   +1 more source

Alterations of the tumor suppressor genes CDKN2A (p16(INK4a)), p14(ARF), CDKN2B (p15(INK4b)), and CDKN2C (p18(INK4c)) in atypical and anaplastic meningiomas.

open access: yesAmerican Journal of Pathology, 2001
J. Boström   +8 more
semanticscholar   +1 more source

Hypermanganesemia in Children With Liver and Portosystemic Circulation Disorders: A Systematic Review

open access: yesJournal of Paediatrics and Child Health, EarlyView.
ABSTRACT Aim Children with chronic liver disease and portosystemic circulation disorders may have long‐term neurocognitive problems. Hypermanganesemia, reported in this group, could be a contributor. This systematic review aimed to characterise liver and portosystemic circulation disorders associated with hypermanganesemia and reported neurocognitive ...
Helena J. Kim   +6 more
wiley   +1 more source

The cold case of state transition 7 (stt7) mutants of Chlamydomonas reinhardtii, solved by whole‐genome sequencing

open access: yesNew Phytologist, EarlyView.
Long‐read whole‐genome sequencing revealed extensive chromosomal rearrangements and aneuploidy in a widely used Chlamydomonas reinhardtii stt7‐1 mutant. The STT7 gene (shown in red) was found to be split between two rearranged chromosomes, providing a molecular explanation for the long‐standing failure of this mutant in genetic crosses.
Sandrine Bujaldon   +3 more
wiley   +1 more source

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