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Results: 1-23 |
Results: 23
DYSTROPHIN EXPRESSION IN A DUCHENNE MUSCULAR-DYSTROPHY PATIENT WITH AFRAME-SHIFT DELETION
Authors: PRIOR TW BARTOLO C PAPP AC SNYDER PJ SEDRA MS BURGHES AHM KISSEL JT LUQUETTE MH TSAO CY MENDELL JR
Citation: Tw. Prior et al., DYSTROPHIN EXPRESSION IN A DUCHENNE MUSCULAR-DYSTROPHY PATIENT WITH AFRAME-SHIFT DELETION, Neurology, 48(2), 1997, pp. 486-488
RESULTS OF DOSAGE SCREENING THE SMN GENE FOR CARRIER AND DIAGNOSTIC TESTING
Authors: PRIOR TW MCANDREW PE PARSONS DW PAPP AC SNYDER PJ SEDRA MS SCHAFER RW HEINZ JW MENDELL JR BURGHES AHM
Citation: Tw. Prior et al., RESULTS OF DOSAGE SCREENING THE SMN GENE FOR CARRIER AND DIAGNOSTIC TESTING, American journal of human genetics, 61(4), 1997, pp. 1310-1310
NONSENSE MUTATIONS IN A BECKER MUSCULAR-DYSTROPHY AND AN INTERMEDIATEPATIENT
Authors: PRIOR TW BARTOLO C PAPP AC SNYDER PJ SEDRA MS BURGHES AHM MENDELL JR
Citation: Tw. Prior et al., NONSENSE MUTATIONS IN A BECKER MUSCULAR-DYSTROPHY AND AN INTERMEDIATEPATIENT, Human mutation, 7(1), 1996, pp. 72-75
A NOVEL SPLICE-SITE MUTATION IN A BECKER MUSCULAR-DYSTROPHY PATIENT
Authors: BARTOLO C PAPP AC SNYDER PJ SEDRA MS BURGHES AHM HALL CD MENDELL JR PRIOR TW
Citation: C. Bartolo et al., A NOVEL SPLICE-SITE MUTATION IN A BECKER MUSCULAR-DYSTROPHY PATIENT, Journal of Medical Genetics, 33(4), 1996, pp. 324-327
A MOLECULAR ANALYSIS AND CLINICAL CORRELATIONS OF HUNTINGTONS-DISEASE
Authors: PRIOR TW GUIDA M PAPP AC SNYDER PJ SEDRA MS PAULSON GW
Citation: Tw. Prior et al., A MOLECULAR ANALYSIS AND CLINICAL CORRELATIONS OF HUNTINGTONS-DISEASE, Clinical chemistry, 42(6), 1996, pp. 424-424
SOUTHERN TRANSFER PROTOCOL FOR CONFIRMATION OF HUNTINGTON DISEASE
Authors: GUIDA M FENWICK RG PAPP AC SYNDER PJ SEDRA M PRIOR TW
Citation: M. Guida et al., SOUTHERN TRANSFER PROTOCOL FOR CONFIRMATION OF HUNTINGTON DISEASE, Clinical chemistry, 42(10), 1996, pp. 1711-1712
RAPID DNA HAPLOYTYPING USING A MULTIPLEX HETERODUPLEX APPROACH - APPLICATION TO DUCHENNE MUSCULAR-DYSTROPHY CARRIER TESTING
Authors: PRIOR TW WENGER GD PAPP AC SNYDER PJ SEDRA MS BARTOLO C MOORE JW
Citation: Tw. Prior et al., RAPID DNA HAPLOYTYPING USING A MULTIPLEX HETERODUPLEX APPROACH - APPLICATION TO DUCHENNE MUSCULAR-DYSTROPHY CARRIER TESTING, Human mutation, 5(3), 1995, pp. 263-268
GERMLINE MOSAICISM AT THE FRAGILE-X LOCUS
Authors: PRIOR TW PAPP AC SNYDER PJ SEDRA MS GUIDA M ENRILE BG
Citation: Tw. Prior et al., GERMLINE MOSAICISM AT THE FRAGILE-X LOCUS, American journal of medical genetics, 55(3), 1995, pp. 384-386
A MOLECULAR PROTOCOL FOR THE DIAGNOSIS OF MYOTONIC-DYSTROPHY
Authors: PRIOR TW GUIDA M MARGER RS PAPP AC SNYDER PJ SEDRA MS
Citation: Tw. Prior et al., A MOLECULAR PROTOCOL FOR THE DIAGNOSIS OF MYOTONIC-DYSTROPHY, Clinical chemistry, 41(6), 1995, pp. 103-103
A MOLECULAR PROTOCOL FOR DIAGNOSING MYOTONIC-DYSTROPHY
Authors: GUIDA M MARGER RS PAPP AC SNYDER PJ SEDRA MS KISSEL JT MENDELL JR PRIOR TW
Citation: M. Guida et al., A MOLECULAR PROTOCOL FOR DIAGNOSING MYOTONIC-DYSTROPHY, Clinical chemistry, 41(1), 1995, pp. 69-72
SPECTRUM OF SMALL MUTATIONS IN THE DYSTROPHIN CODING REGION
Authors: PRIOR TW BARTOLO C PAPP AC SNYDER PJ SEDRA MS BURGHES AHM MENDELL JR
Citation: Tw. Prior et al., SPECTRUM OF SMALL MUTATIONS IN THE DYSTROPHIN CODING REGION, American journal of human genetics, 57(4), 1995, pp. 1299-1299
NOVEL MUTATIONS AND THE MOLECULAR MECHANISM OF MILDLY AFFECTED MUSCULAR-DYSTROPHY PATIENTS
Authors: BARTOLO C PAPP AC SNYDER PJ SEDRA MS BURGHES AHM MENDELL JR PRIOR TW
Citation: C. Bartolo et al., NOVEL MUTATIONS AND THE MOLECULAR MECHANISM OF MILDLY AFFECTED MUSCULAR-DYSTROPHY PATIENTS, American journal of human genetics, 57(4), 1995, pp. 1363-1363
INVESTIGATION INTO THE PATHOGENESIS OF MYOTONIC-DYSTROPHY
Authors: PARSONS DW GUIDA M PAPP AC SNYDER PJ SEDRA MS BARTOLO C PRIOR TW
Citation: Dw. Parsons et al., INVESTIGATION INTO THE PATHOGENESIS OF MYOTONIC-DYSTROPHY, American journal of human genetics, 57(4), 1995, pp. 1439-1439
SPECTRUM OF SMALL MUTATIONS IN THE DYSTROPHIN CODING REGION
Authors: PRIOR TW BARTOLO C PEARL DK PAPP AC SNYDER PJ SEDRA MS BURGHES AHM MENDELL JR
Citation: Tw. Prior et al., SPECTRUM OF SMALL MUTATIONS IN THE DYSTROPHIN CODING REGION, American journal of human genetics, 57(1), 1995, pp. 22-33
IDENTIFICATION OF A MISSENSE MUTATION, SINGLE-BASE DELETION AND A POLYMORPHISM IN THE DYSTROPHIN EXON-16
Authors: PRIOR TW BARTOLO C PAPP AC SNYDER PJ SEDRA MS BURGHES AHM MENDELL JR
Citation: Tw. Prior et al., IDENTIFICATION OF A MISSENSE MUTATION, SINGLE-BASE DELETION AND A POLYMORPHISM IN THE DYSTROPHIN EXON-16, Human molecular genetics, 3(7), 1994, pp. 1173-1174
HETERODUPLEX ANALYSIS OF THE DYSTROPHIN GENE - APPLICATION TO POINT MUTATION AND CARRIER DETECTION
Authors: PRIOR TW PAPP AC SNYDER PJ SEDRA MS WESTERN LM BARTOLO C MOXLEY RT MENDELL JR
Citation: Tw. Prior et al., HETERODUPLEX ANALYSIS OF THE DYSTROPHIN GENE - APPLICATION TO POINT MUTATION AND CARRIER DETECTION, American journal of medical genetics, 50(1), 1994, pp. 68-73
DETECTION OF CYTOMEGALOVIRUS IN LIVER-TRANSPLANT BIOPSIES - A COMPARISON OF LIGHT-MICROSCOPY, IMMUNOHISTOCHEMISTRY, DUPLEX PCR, AND NESTED PCR
Authors: BRAINARD JA GREENSON JK VESY CJ TESI RJ PAPP AC SNYDER PJ WESTERN L PRIOR TW
Citation: Ja. Brainard et al., DETECTION OF CYTOMEGALOVIRUS IN LIVER-TRANSPLANT BIOPSIES - A COMPARISON OF LIGHT-MICROSCOPY, IMMUNOHISTOCHEMISTRY, DUPLEX PCR, AND NESTED PCR, Transplantation, 57(12), 1994, pp. 1753-1757
IDENTIFICATION OF NEW MUTATIONS IN BECKER INTERMEDIATE MUSCULAR-DYSTROPHY PATIENTS/
Authors: PRIOR TW BARTOLO C PAPP AC SYNDER PJ SEDRA MS BURGHES AHM MENDELL JR
Citation: Tw. Prior et al., IDENTIFICATION OF NEW MUTATIONS IN BECKER INTERMEDIATE MUSCULAR-DYSTROPHY PATIENTS/, Neurology, 44(4), 1994, pp. 10000285-10000285
A MISSENSE MUTATION IN THE DYSTROPHIN GENE IN A DUCHENNE MUSCULAR-DYSTROPHY PATIENT
Authors: PRIOR TW PAPP AC SNYDER PJ BURGHES AHM BARTOLO C SEDRA MS WESTERN LM MENDELL JR
Citation: Tw. Prior et al., A MISSENSE MUTATION IN THE DYSTROPHIN GENE IN A DUCHENNE MUSCULAR-DYSTROPHY PATIENT, Nature genetics, 4(4), 1993, pp. 357-360
EXON-44 NONSENSE MUTATION IN 2 DUCHENNE-MUSCULAR-DYSTROPHY BROTHERS DETECTED BY HETERODUPLEX ANALYSIS
Authors: PRIOR TW PAPP AC SNYDER PJ BURGHES AHM SEDRA MS WESTERN LM BARTOLO C MENDELL JR
Citation: Tw. Prior et al., EXON-44 NONSENSE MUTATION IN 2 DUCHENNE-MUSCULAR-DYSTROPHY BROTHERS DETECTED BY HETERODUPLEX ANALYSIS, Human mutation, 2(3), 1993, pp. 192-195
DETECTION OF AN EXON-53 POLYMORPHISM IN THE DYSTROPHIN GENE
Authors: PRIOR TW PAPP AC SNYDER PJ SEDRA MS
Citation: Tw. Prior et al., DETECTION OF AN EXON-53 POLYMORPHISM IN THE DYSTROPHIN GENE, Human genetics, 92(3), 1993, pp. 302-304
KENNEDY DISEASE - A CLINICOPATHOLOGICAL CORRELATION WITH MUTATIONS INTHE ANDROGEN RECEPTOR GENE
Authors: AMATO AA PRIOR TW BAROHN R SNYDER PJ PAPP AC KISSEL JT MENDELL JR
Citation: Aa. Amato et al., KENNEDY DISEASE - A CLINICOPATHOLOGICAL CORRELATION WITH MUTATIONS INTHE ANDROGEN RECEPTOR GENE, Neurology, 43(4), 1993, pp. 413-413
IDENTIFICATION OF NEW MUTATIONS IN THE DYSTROPHIN GENE
Authors: PRIOR TW PAPP AC SNYDER PJ BURGHES AHM BARTOLO C SEDRA MS WESTERN LM MENDELL JR
Citation: Tw. Prior et al., IDENTIFICATION OF NEW MUTATIONS IN THE DYSTROPHIN GENE, American journal of human genetics, 53(3), 1993, pp. 1217-1217
Risultati: 1-23 |