Human Chromosome 7: DNA Sequence and Biology
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Summary
Additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease.
- Type
- article
- Published
- 2003-05-02
- Cited by
- 217
- References
- 26
- Access
- Open access
- OpenAlex
- https://openalex.org/W2148399816
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:30707386
Keywords
Genetics, Biology, Gene, Human genome, Chromosome
References
- A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome
- PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7.
- A comprehensive genetic map of the human genome based on 5,264 microsatellites
- Regional localization of 725 human chromosome 7-specific yeast artificial chromosome clones.
- A forkhead-domain gene is mutated in a severe speech and language disorder
- Genome rearrangements in mammalian evolution: lessons from human and mouse genomes.
- Mutations in SBDS are associated with Shwachman–Diamond syndrome
- Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly.
- A collection of 1814 human chromosome 7-specific STSs.
- Physical map of the centromeric region of human chromosome 7: relationship between two distinct alpha satellite arrays.
- Recent Segmental Duplications in the Human Genome
- Mouse model of split hand/foot malformation type I
- A Gene Map of the Human Genome
- Analysis of the monomeric alphoid sequences in the pericentromeric region of human chromosome 7
- The DNA sequence and comparative analysis of human chromosome 20
- DNA sequence and analysis of human chromosome 9
- The Dlx5 and Dlx6 homeobox genes are essential for craniofacial, axial, and appendicular skeletal development.
- A Comparison of Whole-Genome Shotgun-Derived Mouse Chromosome 16 and the Human Genome
- PatternHunter: faster and more sensitive homology search
- Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence
Cited by
- Integrated pseudogene annotation for human chromosome 22: evidence for transcription.
- Diagnostik und Therapie beim Williams-Beuren-Syndrom (WBS)
- Rôle des aldose réductases dans la physiologie du tissu adipeux blanc : modèles génétiques murins perte et gain de fonction
- Neural cell adhesion molecules belonging to the family of leucine-rich repeat proteins.
- Síndrome de Williams: aspectos clínicos y bases moleculares
- DNA Copy Number Variation in Autism
- Diagnosis and treatment in Williams-Beuren syndrome (WOS) : Guidelines of the Scientific Advisory Board of the German Williams-Beuren Syndrome Association
- A síndrome de Williams-Beuren: contribuições à avaliação clínica e genômica
- Candidate gene studies in psychiatric illness
- Isolation and characterization of LCHN: a novel factor induced by transient global ischemia in the adult rat hippocampus
- Autism links on chromosome 7
- Prospects for in situ analyses of individual and complexes of DNA, RNA, and protein molecules with padlock and proximity probes.
- RNA regulation: a new genetics?
- Selective Attention and Perceptual Load in Autism Spectrum Disorder
- Holoprosencephaly and cleidocranial dysplasia in a patient due to two position‐effect mutations: case report and review of the literature
- Duplication and relocation of the functional DPY19L2 gene within low copy repeats
- Produção e caracterização de proteínas quiméricas contendo fosfatases e módulo de ligação à celulose
- Identification of novel target genes for the plasticity-related transcription factor Zif268.
- Ataxia and peripheral nerve hypomyelination in ADAM22-deficient mice
- A scale invariant clustering of genes on human chromosome 7
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