Aguirre GD, Center for Canine Genetics and Reproduction, James A.
Baker Institute for Animal Health, College of Veterinary
Medicine, Cornell University, Ithaca, NY 14853. Brooks M, Comparative Coagulation Section, Diagnostic Laboratory,
College of Veterinary Medicine, Cornell University, Ithaca, NY
14853. Conboy JG, Cell and Molecular Biology, University of California,
Berkeley, CA 94720. Cooper or Winand N, Department of Pathology, College of
Veterinary Medicine, Cornell University, Ithaca, NY 14853. Duncan I, School of Veterinary Medicine, University of Wisconsin,
Madison, WI 53706. Henthorn P, Sectiqn of Medical Genetics, School of Veterinary
Medicine, University of Pennsylvania, Philadelphia, PA 19104-
6010. Lothrop Jr CD, Scott-Ritchey Research Center, College of Veterinary
Medicine, Auburn University, Auburn, AL 36849-5525. Ray J, James A. Baker Institute for Animal Health, College of
Veterinary Medicine, Cornell University, Ithaca, NY 14853. Sargan D, Department of Clinical Veterinary Medicine, University of
Cambridge, Cambridge CB3 OES, UK. Thorner PS, Department of Pathology, The Hospital for Sick
Children and Research Institute, 555 University Ave., Toronto,
Ontario, Canada. Venta P, Department of Small Animal Sciences, College of Veterinary
Medicine, Michigan State University, East Lansing, MI 48824-
1314. Wenger DA, Division of Medical Genetics, Jefferson Medical College,
Philadelphia, PA 19107.
Brooks M: Canine hemophilia B: Affected dogs show phenotypic and molecular genetic heterogeneity. AKC Molecular and Canine Health Conference, 1994. (Abstract.) Description of complete deletion of factor IX gene in affected Labrador retrievers.
Conboy JG, Shitamoto R, Parra M, et al: Hereditary elliptocytosis due to both qualitative and quantitative defects in membrane skeletal protein 4.1. Blood 78:2438, 1991. Disease-causing muta tion presented.
Henthorn PS, Somberg RL, Fimiani VM, et al: IL-2Ry gene microdeletion demonstrates that canine X-linked severe combined immunodeficiency is a homologue of the human disease. Genomics 23:69,1994. Molecular basis of X-linked severe combined immunodeficiency in the Basset hound presented.
Mauser AE, Whitlark J, Whitney KM, et al: A deletion mutation causes hemophilia in Lhasa apso dogs. Blood 88:3451,1996. New disease-causing mutation in factor IX gene.
Menon KP, Tieu PT, Neufeld EF: Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I. Genomics 12:763,1992. Description of mutation in IDUAgene that causes MPSI in the Plott hound.
Nadon NL, Duncan, ID, Hudson LD: A point mutation in the proteolipid protein gene of the 'shaking pup' interrupts oligodendrocyte development. Development 110:529, 1990. Description of the mutation of the proteolipid protein gene that causes ishakingpup syndrome.
Ray K, Baldwin VJ, Acland GM, et al: Cosegregation of codon 807 mutation of the canine rod cGMP phosphodiesterase p gene and rcdl. Invest Ophthalmol Vis Sci 35:4291,1994. Demonstration that this is the only mutation causing PRA in the Irish setter breed.
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Ray J, DeSanto C, Sun W, et al: Studies on the molecular basis of p-glucuronidase deficiency in mucopolysaccharidosis VII (MPS VII) in the retinal pigment epithelium. Suppl Invest Ophthalmol Vis Sci 37:S379,1996. Description of mutation in GUSB gene in this rare canine storage disease.
Skelly BJ, Sargan DR, Heritage ME, et al: The molecular defect underlying canine fucosidosis. J Med Genet 33:284, 1996. DNA defect responsible for fucosidosis.
Smith BF, Stedman H, Rajpurohit Y, et al: Molecular basis of canine muscle type phosphofructokinase deficiency. J Biol Chem 271:20070,1996. Identification of the mutation in English Springer spaniels and one American Cocker spaniel.
Somberg RL, PuUen RP, Casal ML, et al: A single nucleotide insertion in the canine interleukin-2 receptor gamma chain results in X-linked severe combined immunodeficiency disease. Vet Immunol Immunopathol 47:203,1995. Mutation causing XSCID in Cardigan Welsh corgi.
Victoria T, Rafi MA, Wenger DA: Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in west highland white and cairn terriers. Genomics 33:457,1996. Mutation and DNA test for Krabbe disease described.
Whitney KM, Lothrop CD: Genetic test for pyruvate kinase deficiency of basenjis. J Am Vet Med Assoc 207:918, 1995. DNA test for PK deficiency described and compared to biochemical test.
Winand, NJ: Molecular genetic characterization of spontaneously occurring animal models of Duchenne muscular dystrophy. Ph.D. Thesis, Cornell University, 1994. Identification of molecular defects causing muscular dystrophy in the dog and cat.
Yuzbasiyan-Gurkan V, Halloran Blanton S, Cao Y, et al: Linkage of a microsatellite to the canine copper toxicosis gene in the Bedlington terrier. Am J Vet Res 58:23,1997. First use of linkage-based test to identify an inherited defect of dogs.
Zheng K, Thorner PS, Marrano P, et al: Canine X chromosome-linked hereditary nephritis: A genetic model for human X-linked hereditary nephritis resulting from a single base mutation in the gene encoding the a5 chain of collagen type IV. Proc Natl Acad Sci USA 91:3989, 1994. Description of mutation causing this rare inherited defect of Samoyed dogs.
