Hematology, Transfusion and Cell TherapyObjectives: This study aimed to determine the true frequency of weak ABO subgroups and to investigate the serological characteristics of various subgroup alleles in the Chinese population.
Zhongying Wang +5 more
doaj
The Impact of BRAF V600E Mutation Allele Frequency on the Histopathological Characteristics of Thyroid Cancer. [PDF]
Cancers (Basel), 2023 Abdulhaleem M +8 more
europepmc +1 more source
Combining allele frequency uncertainty and population substructure corrections in forensic DNA calculations [PDF]
arXiv, 2015 In forensic DNA calculations of relatedness of individuals and in DNA mixture analyses, two sources of uncertainty are present concerning the allele frequencies used for evaluating genotype probabilities when evaluating likelihoods. They are: (i) imprecision in the estimates of the allele frequencies in the population by using an inevitably finite ...
arxiv
The number, dominance relationships and frequencies of self-incompatibility alleles in a natural population of Sinapis arvensis L. in South Wales [PDF]
, 1989 J P Stevens, Q. O. N. Kay
openalex +1 more source
Targeted Long‐Read Sequencing as a Single Assay Improves the Diagnosis of Spastic‐Ataxia Disorders
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The hereditary spastic‐ataxia spectrum disorders are a group of disabling neurological diseases. The traditional genetic testing pathway is complex, multistep and leaves many cases unsolved. We aim to streamline and improve this process using long‐read sequencing. Methods We developed a targeted long‐read sequencing strategy with the
Laura Ivete Rudaks +20 more
wiley +1 more source
Cutaneous T‐cell lymphomas: 2023 update on diagnosis, risk‐stratification, and management
American Journal of Hematology, Volume 98, Issue 1, Page 193-209, January 2023., 2023 Abstract Disease Overview Cutaneous T‐cell lymphomas are a heterogenous group of T‐cell neoplasms involving the skin, the majority of which may be classified as Mycosis Fungoides (MF) or Sézary Syndrome (SS). Diagnosis The diagnosis of MF or SS requires the integration of clinical and histopathologic data.
Alexandra C. Hristov +2 more
wiley +1 more source
On the frequency of introgression of the radiate (Tr) allele from Senecio squalidus L. into Senecio vulgaris L. [PDF]
, 1980 David Marshall, Richard J. Abbott
openalex +1 more source
Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng +6 more
wiley +1 more source
Cis-regulation and sporogenic reversion frequency of a new mutable Anl allele in Petunia hybrida [PDF]
, 1985 A. G. M. Gerats +2 more
openalex +1 more source
Early BMI Change, Cognitive Decline, and CSF AD Biomarkers Alterations in Parkinson's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To examine the relationship of early BMI change with subsequent cognitive decline, CSF AD biomarkers alterations, and progression to dementia in patients with PD. Methods Study data were prospectively collected from the PPMI cohort. Weight/height data at enrollment and second‐year clinical visit were utilized to calculate BMI change.
Rui Zhong, Kezhong Zhang
wiley +1 more source