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Genetic analysis of the Duchenne muscular dystrophy genePRIOR, T. W.Archives of pathology & laboratory medicine (1976). 1991, Vol 115, Num 10, pp 984-990, issn 0363-0153Article

Identification of a missense mutation in a Friedreich's ataxia patient : Implications for diagnosis and carrier studiesBARTOLO, C; MENDELL, J. R; PRIOR, T. W et al.American journal of medical genetics. 1998, Vol 79, Num 5, pp 396-399, issn 0148-7299Article

Transfusion-associated graft-vs-host disease: A fatal case caused by blood from an unrelated HLA homozygous donorGORMAN, T. E; JULIUS, C. J; BARTH, R. F et al.American journal of clinical pathology. 2000, Vol 113, Num 5, pp 732-737, issn 0002-9173Conference Paper

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy numberMCANDREW, P. E; PARSONS, D. W; SIMARD, L. R et al.American journal of human genetics. 1997, Vol 60, Num 6, pp 1411-1422, issn 0002-9297Article

Detection of viral DNA in vestibular ganglia tissue from patients with Meniere's diseaseWELLING, D. B; MILES, B. A; WESTERN, L et al.The American journal of otology (New York, NY). 1997, Vol 18, Num 6, pp 734-737, issn 0192-9763Article

Heteroduplex analysis of the dystrophin gene : application to point mutation and carrier detectionPRIOR, T. W; PAPP, A. C; SNYDER, P. J et al.American journal of medical genetics. 1994, Vol 50, Num 1, pp 68-73, issn 0148-7299Article

RFLP for HindIII at the Duchenne muscular dystrophy genePRIOR, T. W; FRIEDMAN, K. J; SILVERMAN, L. M et al.Nucleic acids research. 1989, Vol 17, Num 6, issn 0305-1048, 2370 [1 p.]Article

High preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMASIMARD, L. R; BELANGER, M.-C; MORISSETTE, S et al.Neurology. 2007, Vol 68, Num 6, pp 451-456, issn 0028-3878, 6 p.Article

Diagnostic and prognostic value of glycosyltransferase mRNA in glioblastoma multiforme patientsOBLINGER, J. L; PEARL, D. K; BOARDMAN, C. L et al.Neuropathology and applied neurobiology (Print). 2006, Vol 32, Num 4, pp 410-418, issn 0305-1846, 9 p.Article

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophyMONANI, U. R; SENDTNER, M; MORRIS, G. E et al.Human molecular genetics (Print). 2000, Vol 9, Num 3, pp 333-339, issn 0964-6906Article

Case of the month : germline mosaicism in carriers of Duchenne muscular dystrophyPRIOR, T. W; PAPP, A. C; SNYDER, P. J et al.Muscle & nerve. 1992, Vol 15, Num 8, pp 960-963, issn 0148-639XArticle

Molecular probe protocol for determining carrier status in Duchenne and Becker muscular dystrophiesPRIOR, T. W; FRIEDMAN, K. J; HIGHSMITH, W. E. JR et al.Clinical chemistry (Baltimore, Md.). 1990, Vol 36, Num 3, pp 441-445, issn 0009-9147Article

Determination of carrier status in Duchenne and Becker muscular dystrophies by quantitative polymerase chain reaction and allele-specific oligonucleotidesPRIOR, T. W; PAPP, A. C; SNYDER, P. J et al.Clinical chemistry (Baltimore, Md.). 1990, Vol 36, Num 12, pp 2113-2117, issn 0009-9147, 5 p.Article

Sensitivity of serum fructosamine in short term glycemic controlPRIOR, T. W; CHAPMAN, J. F; BANKSON, D. D et al.Annals of clinical and laboratory science. 1989, Vol 19, Num 2, pp 107-113, issn 0091-7370Article

Identification of MENI mutations in sporadic enteropancreatic neuroendocrine tumors by analysis of paraffin-embedded tissueMAILMAN, M. D; MUSCARELLA, P; SCHIRMER, W. J et al.Clinical chemistry (Baltimore, Md.). 1999, Vol 45, Num 1, pp 29-34, issn 0009-9147Article

Differential diagnosis of hereditary hemochromatosis from other liver disorders by genetic analysis: Gene mutation analysis of patients previously diagnosed with hemochromatosis by liver biopsyBARTOLO, C; MCANDREW, P. E; SOSOLIK, R. C et al.Archives of pathology & laboratory medicine (1976). 1998, Vol 122, Num 7, pp 633-637, issn 0363-0153Article

Dystrophin expression in a Duchenne muscular dystrophy patient with a frame shift deletionPRIOR, T. W; BARTOLO, C; PAPP, A. C et al.Neurology. 1997, Vol 48, Num 2, pp 486-488, issn 0028-3878Article

Germline mosaicism at the fragile X locusPRIOR, T. W; PAPP, A. C; SNYDER, P. J et al.American journal of medical genetics. 1995, Vol 55, Num 3, pp 384-386, issn 0148-7299Article

Optimization of DNA extraction from formalin-fixed tisue and its clinical application in Duchenne muscular dystrophyFORTHOEFFEL, K. F; PAPP, A. C; SNYDER, P. J et al.American journal of clinical pathology. 1992, Vol 98, Num 1, pp 98-104, issn 0002-9173Article

Glycosylated hemoglobin and fructosamine : indicators of glycemic control in pregnancies complicated by diabetes mellitusWATSON, W. J; HERBERT, W. N. P; PRIOR, T. W et al.Journal of reproductive medicine. 1991, Vol 36, Num 10, pp 731-734, issn 0024-7758Article

Cystic fibrosis deletion mutation detected by PCR-mediated site-directed mutagenesisFRIEDMAN, K. J; HIGHSMITH, W. E; PRIOR, T. W et al.Clinical chemistry (Baltimore, Md.). 1990, Vol 36, Num 4, pp 695-696, issn 0009-9147, 2 p.Article

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2MONANI, U. R; LORSON, C. L; PARSONS, D. W et al.Human molecular genetics (Print). 1999, Vol 8, Num 7, pp 1177-1183, issn 0964-6906Article

Prevalence of the factor VLeiden mutation among autopsy patients with pulmonary thromboembolic disease using an improved method for factor VLeiden detectionGORMAN, T. E; ARCOT, A. N; BAKER, P et al.American journal of clinical pathology. 1999, Vol 111, Num 3, pp 413-417, issn 0002-9173Article

Myoblast transfer in the treatment of Duchenne's muscular dystrophyMENDELL, J. R; KISSEL, J. T; NAGARAJA, H et al.The New England journal of medicine. 1995, Vol 333, Num 13, pp 832-838, issn 0028-4793Article

Spectrum of small mutations in the dystrophin coding regionPRIOR, T. W; BARTOLO, C; PEARL, D. K et al.American journal of human genetics. 1995, Vol 57, Num 1, pp 22-33, issn 0002-9297Article

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