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NOR activity in two families with balanced D;D translocations and numerous consecutive miscarriages

2009· article· en· W1979404838 on OpenAlexfundno aff
Nina Gahmberg, L. Pajunen, Albert de la Chapelle

Bibliographic record

VenueHereditas · 2009
Typearticle
Languageen
FieldAgricultural and Biological Sciences
TopicChromosomal and Genetic Variations
Canadian institutionsnot available
FundersInstitute of Genetics
KeywordsChromosomal translocationBiologyDicentric chromosomeKaryotypeCentromereGeneticsChromosomeGene

Abstract

fetched live from OpenAlex

Ag-staining of the nucelolus organizers (NOR) was studied in the acrocentric chromosomes identified by Q-banding in lymphocyte cultures from nine members of two families wit balanced D;D translocations. The D;D translocations were dicentric, t(13;14) and t(13;15). The translocation chromosomes did not show NOR-activity. The modal numbers of Ag-positive NORs were normal (5–9) in both the translocation carriers and the individuals with normal karyotypes. The NORs were inherited unaltered from parent to child in both families as shown by fluorescent markers and the size of the silver precipitate on the individual acrocentric chromosomes.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.866
Threshold uncertainty score0.449

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.010
GPT teacher head0.229
Teacher spread0.218 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations4
Published2009
Admission routes1
Has abstractyes

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