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Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13.

Publication: Journal Article

Wang, Zwaan, Mullaney, Jabak, Al-Awad, AH Beggs, and Engle. 1998. “Congenital Fibrosis of the Extraocular Muscles Type 2, an Inherited Exotropic Strabismus Fixus, Maps to Distal 11q13.”. Am J Hum Genet 63 (2): 517-25.

A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1.

Publication: Journal Article

Engle, Castro, Macy, Knoll, and AH Beggs. 1997. “A Gene for Isolated Congenital Ptosis Maps to a 3-CM Region Within 1p32-P34.1.”. Am J Hum Genet 60 (5): 1150-7.

Novel actin crosslinker superfamily member identified by a two step degenerate PCR procedure.

Publication: Journal Article

Byers, AH Beggs, McNally, and Kunkel. 1995. “Novel Actin Crosslinker Superfamily Member Identified by a Two Step Degenerate PCR Procedure.”. FEBS Lett 368 (3): 500-4.

Expression of the myelin basic protein gene in transgenic mice expressing human neurotropic virus, JCV, early protein.

Publication: Journal Article

Haas, Haque, AH Beggs, Khalili, Knobler, and Small. 1994. “Expression of the Myelin Basic Protein Gene in Transgenic Mice Expressing Human Neurotropic Virus, JCV, Early Protein.”. Virology 202 (1): 89-96.

Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12.

Publication: Journal Article

Engle, Kunkel, Specht, and AH Beggs. 1994. “Mapping a Gene for Congenital Fibrosis of the Extraocular Muscles to the Centromeric Region of Chromosome 12.”. Nat Genet 7 (1): 69-73.

Dystrophin analysis in idiopathic dilated cardiomyopathy.

Publication: Journal Article

Michels, Pastores, Moll, Driscoll, Miller, Burnett, Rodeheffer, Tajik, AH Beggs, and Kunkel. 1993. “Dystrophin Analysis in Idiopathic Dilated Cardiomyopathy.”. J Med Genet 30 (11): 955-7.

A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1.

Publication: Journal Article

Beggs, AH, Phillips, Kozman, Mulley, Wilton, Kunkel, and Laing. 1992. “A (CA)n Repeat Polymorphism for the Human Skeletal Muscle Alpha-Actinin Gene ACTN2 and Its Localization on the Linkage Map of Chromosome 1.”. Genomics 13 (4): 1314-5.

Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11.

Publication: Journal Article

Beggs, AH, Byers, Knoll, Boyce, Bruns, and Kunkel. 1992. “Cloning and Characterization of Two Human Skeletal Muscle Alpha-Actinin Genes Located on Chromosomes 1 and 11.”. J Biol Chem 267 (13): 9281-8.

Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I.

Publication: Journal Article

Laing, Majda, Akkari, Layton, Mulley, Phillips, Haan, White, AH Beggs, and Kunkel. 1992. “Assignment of a Gene (NEMI) for Autosomal Dominant Nemaline Myopathy to Chromosome I.”. Am J Hum Genet 50 (3): 576-83.

Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy.

Publication: Journal Article

Beggs, AH, Neumann, Arahata, Arikawa, Nonaka, Anderson, and Kunkel. 1992. “Possible Influences on the Expression of X Chromosome-Linked Dystrophin Abnormalities by Heterozygosity for Autosomal Recessive Fukuyama Congenital Muscular Dystrophy.”. Proc Natl Acad Sci U S A 89 (2): 623-7.