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REFERENCES

  • Allinson PS, Kelly TE. 1995. Huntington's disease testing: First year's experience in a new program. Am J Hum Genet 57: A155.
  • Barnabei VM, Wyandt HE, Kelly TE. 1981. Possible exception to the critical region hypothesis. Am J Hum Genet 33: 6166.
  • Bialer MG, Kelly TE. 1989. Localization of the gene for emery-dreifuss muscular dystrophy to Xq28. Am J Hum Genet 45: A130.
  • Brown AM, Romness M, Dong DA, Kelly TE. 2008. Triphalangeal thumbs with brachyectrodactyly: A sporadic case. Am J Med Genet Part A 146A: 28352836.
  • Ferguson PJ, Blanton SH, Saulsbury FT, McDuffie MJ, Borowitz SM, Sutphen JL, Kelly TE. 2000. X-linked syndrome of autoimmunity and variable immunodeficiency maps to the peri-centric region of the X chromosome. Am J Med Genet 90: 390397.
  • Janku P, Robinow M, Kelly TE, Bralley R, Baynes A, Edgerton MT. 1980. The van der Woude syndrome in a large kindred: Variability, penetrance and genetic risks. Am J Med Genet 5: 117123.
  • Kelly TE. 1976. The mucopolysaccharidoses and mucolipidoses. Clin Orthoped Rel Res 114: 116136.
  • Kelly TE, Graetz GS. 1977. Isolated neuraminidase deficiency: A distinct lysosomal storage disease. Am J Med Genet 1: 3146.
  • Kelly TE, Chase GC, Kayback MM, Kumor K, McKusick VA. 1975a. Tay-sachs disease: High gene frequency in a non-Jewish population. Am J Hum Genet 27: 287291.
  • Kelly TE, Thomas GH, Taylor HA, McKusick VA, Sly WS, Glaser JH, Robinow M, Luzzati L, Ives EJ, Espiritu C, Feingold M, Bull MJ, Ashenhurst EM. 1975b. Mucolipidosis III (Pseudo-Hurler Polydystrophy): Delineation of the syndrome by clinical and laboratory criteria in a series of twelve patients. John Hopkins Med J 137: 156175.
  • Kelly TE, Reynolds LW, O'Brien JS. 1976. Segregation within a family of two mutant alleles of hexosaminidase A. Clin Genet 9: 540543.
  • Kelly TE, Bartoshesky L, Harris DJ, McCauley RGK, Feingold M, Graetz GS. 1978. Mucolipidosis I: Delineation of the evolution of the phenotype. Am J Hum Genet 30: 55a.
  • Kelly TE, Lunt P, Sarfarazi M, Schnatterly P, Thomas NST, Harper PS. 1987. Evidence that X linked Charcot-Marie-tooth disease and bulbospinal neuronopathy loci are on opposite sides of DXYS1. Cytogenet Cell Genet 46: 638.
  • Maury WJ, Thomas CY, Kelly TE. 1983. Restriction enzyme polymorphism analysis of the hGH gene cluster in short stature children. Am J Hum Genet 35: 138a.
  • McClellan MW, von Kap-Herr C, Sudduth KW, Hildebrand D, Kelly TE, Golden WL. 1993. Characterization of a complex chromosome 2;8 translocation by fluorescent in situ hybridization (FISH). Am J Hum Genet 53: 579.
  • Niewiadomski L, Kelly TE. 1996. X-linked Charcot-Marie-tooth disease: Molecular analysis of interfamilial variability. Am J Med Genet 66: 175178.
  • O'Brien JS, Norden AGW, Miller AL, Frost RG, Scott CR, Nidgoff J, Kelly TE. 1977. Ganglioside GM2 N-acetyl-B-D-galactosaminidase and asialo GM2 (GA2) N-acetyl-galactosaminidase: Studies in human fibroblasts. Clin Genet 11: 171183.
  • Ohle C, Qi M, Robinson J, Ning L, Xu Y, Kim CJ, Moss AJ, Kelly TE. 2002. High rate of non-penetrance in a six-generation family with long QT syndrome (LQT2) due to a HERG mutation. Am J Hum Genet 71: 261.
  • Reynolds JF, Haas RJ, Edgerton MT, Kelly TE. 1982. Cranio-frontonasal dysplasia in a three generation family. J Craniofac Genet Devel Biol 2: 233238.
  • Schmitt E, Gillenwater JY, Kelly TE. 1982. An autosomal dominant syndrome of radial hypoplasia, triphalangeal thumbs, hypospadias and maxillary diastema. Am J Med Genet 13: 6370.
  • Schnatterly P, Bono KL, Robinow M, Wyandt HE, Kardon N, Kelly TE. 1984. Distal 15q trisomy: Phenotypic comparison of nine cases in an extended family. Am J Hum Genet 36: 444451.
  • Shashi V, Golden WL, Allinson PS, Kelly TE. 1996. Molecular analysis of recombination in a family with a large pericentric X-chromosome inversion. Am J Hum Genet 58: 12311238.
  • Shires MA, Wilson WG, Willson K, Wyandt HE, Harris LM, Kelly TE. 1982. Trisomy 13 and trisomy 18 mosaicism in an adult with profound mental retardation and malformations. Am J Hum Genet 34: 110a.
  • Taylor HA, Thomas GH, Kelly TE. 1973. Mucolipidosis III: Abnormalities in cultured fibroblasts and serum. Am J Hum Genet 25: 78a.