ArticleAmerican journal of human genetics1992
Linkage localization of facioscapulohumeral muscular dystrophy (FSHD) in 4q35.
Article in American journal of human genetics, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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Who cites it
10 citing papers in PubMed, 29 citations in OpenAlex.
- Validation of Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy.The Journal of molecular diagnostics : JMD · 2021Article
- Genotype-phenotype correlations in FSHD.BMC medical genomics · 2019Review
- Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle.Journal of molecular medicine (Berlin, Germany) · 2005Article
- Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy.Proceedings of the National Academy of Sciences of the United States of America · 1999Article
- Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.Journal of medical genetics · 1998Article
- Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy.Journal of medical genetics · 1996Article
- Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral muscular dystrophy (FSHD).Human genetics · 1994Article
- The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 1994Article
- A radiation hybrid map of 15 loci on the distal long arm of chromosome 4, the region containing the gene responsible for facioscapulohumeral muscular dystrophy (FSHD).American journal of human genetics · 1993Article
- Genetic and physical mapping on chromosome 4 narrows the localization of the gene for facioscapulohumeral muscular dystrophy (FSHD).American journal of human genetics · 1992Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Fasioscapulohumeral muscular dystrophy (FSHD) has recently been localized to 4q35. We have studied four families with FSHD. Linkage to the 4q35 probes D4S163, D4S139, and D4S171 was confirmed. We found no recombinants helpful in detailed localization of the FSHD gene. Two of our families include males with a rapidly progressive muscle disease that had been diagnosed, on the basis of clinical features, as Duchenne muscular dystrophy. One of these males is available for linkage study and shares the haplotype of his FSHD-affected aunt and cousin.
Indexed as
Identifiers
1642242PMC1682681W1482634970What 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.