ReviewAmerican journal of human genetics1994
Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1.
Review 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 36 papers.
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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
36 citing papers in PubMed.
- Neurabin I haploinsufficiency disrupts ion channel regulation and synaptic maturation in human cortical neurons in neurodevelopmental disorders.Molecular psychiatry · 2026Article
- A novel approach to detecting microduplication in split hand/foot malformation type 3 at the single-cell level: SHFM as a case study.Orphanet journal of rare diseases · 2024Article
- New pathogenic variant inFrontiers in genetics · 2023Article
- Review
- Nonsyndromic Split-Hand/Foot Malformation: Recent Classification.Molecular syndromology · 2020Article
- Split Hand Foot Malformation Syndrome: A Novel Heterozygous FGFR1 Mutation Detected by Next Generation Sequencing.Current genomics · 2019Article
- A double dealing tale of p63: an oncogene or a tumor suppressor.Cellular and molecular life sciences : CMLS · 2018Review
- Deletion of a Long-RangeGenetics · 2018Article
- Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb development.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2016Review
- Dlx5 Homeodomain:DNA Complex: Structure, Binding and Effect of Mutations Related to Split Hand and Foot Malformation Syndrome.Journal of molecular biology · 2016Article
- Phenotypic subregions within the split-hand/foot malformation 1 locus.Human genetics · 2016Article
- Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report.Molecular syndromology · 2016Article
- Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene.Journal of applied genetics · 2015Article
- 7q21.3 Deletion involving enhancer sequences within the gene DYNC1I1 presents with intellectual disability and split hand-split foot malformation with decreased penetrance.Molecular cytogenetics · 2015Article
- Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.European journal of human genetics : EJHG · 2014Article
- Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.Orphanet journal of rare diseases · 2014Article
- DLX5, FGF8 and the Pin1 isomerase control ΔNp63α protein stability during limb development: a regulatory loop at the basis of the SHFM and EEC congenital malformations.Human molecular genetics · 2014Article
- Prenatal diagnosis of a 7q21.13q22.1 deletion detected using high-resolution microarray.Obstetrics & gynecology science · 2014Article
- Delineation of a de novo 7q21.3q31.1 Deletion by CGH-SNP Arrays in a Girl with Multiple Congenital Anomalies Including Severe Glaucoma.Molecular syndromology · 2013Article
- Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation.BMC medical genetics · 2013Article
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10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Split hand/split foot (SHFD) is a human developmental defect characterized by missing digits, fusion of remaining digits, and a deep median cleft in the hands and feet. Cytogenetic studies of deletions and translocations associated with this disorder have indicated that an autosomal dominant split hand/split foot locus (gene SHFD1) maps to 7q21-q22. To characterize the SHFD1 locus, somatic cell hybrid lines were constructed from cytogenetically abnormal individuals with SHFD. Molecular analysis resulted in the localization of 93 DNA markers to one of 10 intervals surrounding the SHFD1 locus. The translocation breakpoints in four SHFD patients were encompassed by the smallest region of overlap among the SHfD-associated deletions. The order of DNA markers in the SHFD1 critical region has been defined as PON-D7S812-SHFD1-D7S811-ASNS. One DNA marker, D7S811, detected altered restriction enzyme fragments in three patients with translocations when examined by pulsed-field gel electrophoresis (PFGE). These data map SHFD1, a gene that is crucial for human limb differentiation, to a small interval in the q21.3-q22.1 region of human chromosome 7.
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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.