ArticleHuman genetics1991
Molecular characterization of a patient with del(1)(q23-q25).
Article in Human genetics, 1991. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
8 citing papers in PubMed, 25 citations in OpenAlex.
- Myocilin misfolding and glaucoma: A 20-year update.Progress in retinal and eye research · 2023Review
- MicroRNAs in orthopaedic research: Disease associations, potential therapeutic applications, and perspectives.Journal of orthopaedic research : official publication of the Orthopaedic Research Society · 2018Review
- Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.American journal of medical genetics. Part A · 2011Article
- A sequence-ready BAC clone contig of a 2.2-Mb segment of human chromosome 1q24.Genome research · 1999Article
- The 2-5A system: modulation of viral and cellular processes through acceleration of RNA degradation.Pharmacology & therapeutics · 1998Review
- Large deletions and other gross forms of chromosome imbalance compatible with viability and fertility in the mouse.Nature genetics · 1993Article
- Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.American journal of human genetics · 1992Article
- Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).American journal of human genetics · 1991Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
Abstract
We report a patient (S.T.) with multiple congenital anomalies and developmental delay associated with an interstitial deletion of 1q23-1q25. Molecular analysis of the deletion was performed using DNA markers that map to 1q. Five DNA markers, MLAJ-1 (D1S61), CRI-L1054 (D1S42), HBI40 (D1S66), OS-6 (D1S75), and BH516 (D1S110), were demonstrated to be deleted. Informative polymorphisms demonstrated this to be a de novo deletion of the maternally derived chromosome. Deletion status was determined using restriction fragment length polymorphism (RFLP) analysis supplemented with densitometry in the experiments where RFLP analysis was not fully informative. Deletions were confirmed by Southern analysis using genomic DNA from a somatic cell hybrid retaining the del(1)(q23-q25) chromosome that was constructed from patient S.T. Flow karyotyping confirmed the deletion and estimated that the deletion encompassed 11,000-16,000 kb. The clinical and cytogenetic characteristics of S.T. are compared with those of ten previously described patients with monosomy 1q21-1q25.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.