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Research Digest
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| Mar. 02 |
Multicenter Study to Test Albuterol, Oxandrolone in FSH Dystrophy Kissel JT et al. Randomized, double-blind, placebo-controlled trial of albuterol in facioscapulohumeral dystrophy. Neurology. 2001 Oct 23;57(8):1434-40. [PubMed abstract] [Quest] |
| Mar. 02 |
Similarities between chromosomes 4 and 10 complicate genetic tests for FSH, but might hold clues to pathology van Geel M et al. Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin. Genomics. 2002 Feb;79(2):210-7. [PubMed abstract] [MDA Technical Summary] Lemmers R et al. Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis. Ann Neurol. 2001 Dec;50(6):816-9. [PubMed abstract] [MDA Technical Summary] |
| Dec. 99 |
Researchers Identify Potential Genes Near the FHS Locus Van Geel M, et al. (1999): The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements. Genomics, 61 (1):55-65. [PubMed abstract] |
| Dec. 99 |
Many Muscle Genes Appear to be Mis-Regulated in FSH Tupler R, et al. (1999): Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy. Genetics, 96(22):12650-12654. [PubMed abstract] [Quest] |
| Dec. 99 |
Researchers Find Evidence That 3.3kb Repeats May Each Hold Gene Encoding a DNA Binding Protein Gabriels J, et al. (1999): Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element. Gene, 236(1):25-32. [PubMed abstract] |
| Aug. 99 |
DNA Fragment Size in FSH Test May Predict Severity and Progression of Disorder Ricci, E et al. (1999): Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype. Annals of Neurology, 45(6):751-757. [PubMed abstract] |
| Aug. 99 |
FSH Test Depends on Double Enzyme Digest to Enhance Accuracy Orrell, RW et al. (1999): Definitive molecular diagnosis of facioscapulohumeral dystrophy. Neurology, 52(9):1822-1826. MDA supported. [PubMed abstract] |
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