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Nature Genetics|January 1, 1995
A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patientsT G Thompson, C J DiDonato, L R Simard, et al.
Nature Genetics|June 1, 1994
A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouseS G Ryan, M S Buckwalter, J W Lynch, et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology|May 1, 1994
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 diseaseS T Winokur, U Bengtsson, J Feddersen, et al.
Human Genetics|September 1, 1993
The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locusC Wijmenga, S T Winokur, G W Padberg, et al.
AIDS Research and Human Retroviruses|November 11, 1991
Human chromosome-dependent and -independent pathways for HIV-2 trans-activationC E Hart, M A Westhafer, J C Galphin, et al.
Somatic Cell and Molecular Genetics|September 1, 1991
New DNA markers in the Huntington's disease gene candidate regionC S Lin, M Altherr, G Bates, et al.
Somatic Cell and Molecular Genetics|July 1, 1991
Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase geneM E MacDonald, H S Scott, W L Whaley, et al.
Nature Genetics|March 1, 1995
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3P L Tavormina, R Shiang, L M Thompson, et al.
Genome Research|September 1, 1995
Human chromosome-specific cDNA libraries: new tools for gene identification and genome annotationR G Del Mastro, L Wang, A D Simmons, et al.
Human Molecular Genetics|March 1, 1993
The isolation of cDNAs within the Huntington disease region by hybridisation of yeast artificial chromosomes to a cDNA libraryR G Snell, L A Doucette-Stamm, K M Gillespie, et al.
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