ArticleAmerican journal of human genetics1994
Non-Mendelian transmission in a human developmental disorder: split hand/split foot.
Article in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
11 citing papers in PubMed.
- Split Hand Foot Malformation Syndrome: A Novel Heterozygous FGFR1 Mutation Detected by Next Generation Sequencing.Current genomics · 2019Article
- Phenotypic subregions within the split-hand/foot malformation 1 locus.Human genetics · 2016Article
- Direct Gamete Sequencing Reveals No Evidence for Segregation Distortion in House Mouse Hybrids.PloS one · 2015Article
- Split-hand/foot malformation - molecular cause and implications in genetic counseling.Journal of applied genetics · 2014Review
- Why study human limb malformations?Journal of anatomy · 2003Article
- Meiotic segregation analysis of RB1 alleles in retinoblastoma pedigrees by use of single-sperm typing.American journal of human genetics · 2000Article
- Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion.American journal of human genetics · 1999Article
- FRAXA and FRAXE: evidence against segregation distortion and for an effect of intermediate alleles on learning disability.Proceedings of the National Academy of Sciences of the United States of America · 1998Article
- Human genetics: past, present, and future, with special reference to major trends in Japan.The Japanese journal of human genetics · 1997Review
- Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis.American journal of human genetics · 1996Article
- Bilateral split hand/foot malformation and inv(7)(p22q21.3).Journal of medical genetics · 1995Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The study of Mendelian disorders that do not meet some Mendelian expectations has led to an increased understanding of such previously obscure genetic phenomena as anticipation. Split hand/split foot (SHSF), a human developmental malformation, demonstrates such distinctive genetic features as reduced penetrance and variable expressivity. In this study, new pedigrees with defined ascertainment confirm the existence of non-Mendelian transmission characterized by the overtransmission of SHSF from affected fathers to sons.
Indexed as
Identifiers
7942849PMC1918285What OpenQuestion holds
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.