ArticleJournal of medical genetics1998
Parental origin effects in human trisomy for chromosome 14q: implications for genomic imprinting.
Article in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
7 citing papers in PubMed, 108 citations in OpenAlex.
- Genetic factors associated with small for gestational age birth and the use of human growth hormone in treating the disorder.International journal of pediatric endocrinology · 2012Article
- Article
- Comparative phylogenetic analysis reveals multiple non-imprinted isoforms of opossum Dlk1.Mammalian genome : official journal of the International Mammalian Genome Society · 2006Article
- Allele-specific methylation of a functional CTCF binding site upstream of MEG3 in the human imprinted domain of 14q32.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2005Article
- Inhibition of adipogenesis and development of glucose intolerance by soluble preadipocyte factor-1 (Pref-1).The Journal of clinical investigation · 2003Article
- Current status of human chromosome 14.Journal of medical genetics · 2002Review
- Comparative sequence analysis of the imprinted Dlk1-Gtl2 locus in three mammalian species reveals highly conserved genomic elements and refines comparison with the Igf2-H19 region.Genome research · 2001Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Parental origin specific congenital anomalies have been noted in patients with uniparental disomy of the long arm of human chromosome 14 (UPD14). This suggests the presence of imprinted genes, consistent with observations of imprinting in the region of syntenic homology in the mouse. It is not known whether the distinct defects reported for paternal and maternal UPD14 are the result of biallelic expression or absence of expression of imprinted genes. Furthermore, identification of the genes responsible would be facilitated by a higher resolution map of the imprinted region(s) involved. Subjects with partial trisomy for chromosome 14 (Ts14) have been reported and hence also have an alteration in the dosage of their parental chromosomes. In this study, we have carried out genotype-phenotype correlations considering the parental origin of the extra chromosome in previously reported cases of maternal and paternal partial Ts14. The analysis has provided evidence of a correlation between distal maternal Ts14 and anomalies including low birth weight, short philtrum, and small hands. The clinical features found in the maternal and paternal trisomies are compared with those associated with maternal and paternal UPD14 and their significance is discussed in relation to genomic imprinting on chromosome 14.
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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.