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Results: 1-25 | 26-50
Results: 1-25/50
IDENTIFICATION OF A MISSENSE MUTATION IN A FRIEDREICHS ATAXIA PATIENT- IMPLICATIONS FOR DIAGNOSIS AND CARRIER STUDIES
Authors: BARTOLO C MENDELL JR PRIOR TW
Citation: C. Bartolo et al., IDENTIFICATION OF A MISSENSE MUTATION IN A FRIEDREICHS ATAXIA PATIENT- IMPLICATIONS FOR DIAGNOSIS AND CARRIER STUDIES, American journal of medical genetics, 79(5), 1998, pp. 396-399
DIAGNOSIS OF SPINAL MUSCULAR-ATROPHY IN AN SMN NONDELETION PATIENT USING A QUANTITATIVE PCR SCREEN AND MUTATION ANALYSIS
Authors: PARSONS DW MCANDREW PE ALLINSON PS PARKER WD BURGHES AHM PRIOR TW
Citation: Dw. Parsons et al., DIAGNOSIS OF SPINAL MUSCULAR-ATROPHY IN AN SMN NONDELETION PATIENT USING A QUANTITATIVE PCR SCREEN AND MUTATION ANALYSIS, Journal of Medical Genetics, 35(8), 1998, pp. 674-676
DETERMINING GENE DOSAGE
Authors: PRIOR TW
Citation: Tw. Prior, DETERMINING GENE DOSAGE, Clinical chemistry, 44(4), 1998, pp. 703-704
DIFFERENTIAL-DIAGNOSIS OF HEREDITARY HEMOCHROMATOSIS FROM OTHER LIVERDISORDERS BY GENETIC-ANALYSIS - GENE MUTATION ANALYSIS OF PATIENTS PREVIOUSLY DIAGNOSED WITH HEMOCHROMATOSIS BY LIVER-BIOPSY
Authors: BARTOLO C MCANDREW PE SOSOLIK RC CAWLEY KA BALCERZAK SP BRANDT JT PRIOR TW
Citation: C. Bartolo et al., DIFFERENTIAL-DIAGNOSIS OF HEREDITARY HEMOCHROMATOSIS FROM OTHER LIVERDISORDERS BY GENETIC-ANALYSIS - GENE MUTATION ANALYSIS OF PATIENTS PREVIOUSLY DIAGNOSED WITH HEMOCHROMATOSIS BY LIVER-BIOPSY, Archives of pathology and laboratory medicine, 122(7), 1998, pp. 633-637
THE SURVIVAL MOTOR-NEURON PROTEIN IN SPINAL MUSCULAR-ATROPHY
Authors: COOVERT DD LE TT MCANDREW PE STRASSWIMMER J CRAWFORD TO MENDELL JR COULSON SE ANDROPHY EJ PRIOR TW BURGHES AHM
Citation: Dd. Coovert et al., THE SURVIVAL MOTOR-NEURON PROTEIN IN SPINAL MUSCULAR-ATROPHY, Human molecular genetics, 6(8), 1997, pp. 1205-1214
DELETION AND CONVERSION IN SPINAL MUSCULAR-ATROPHY PATIENTS - IS THERE A RELATIONSHIP TO SEVERITY
Authors: DIDONATO CJ INGRAHAM SE MENDELL JR PRIOR TW LENARD S MOXLEY RT FLORENCE J BURGHES AHM
Citation: Cj. Didonato et al., DELETION AND CONVERSION IN SPINAL MUSCULAR-ATROPHY PATIENTS - IS THERE A RELATIONSHIP TO SEVERITY, Annals of neurology, 41(2), 1997, pp. 230-237
ISSUES RELATED TO DNA TESTING FOR HUNTINGTONS-DISEASE IN SYMPTOMATIC PATIENTS
Authors: PAULSON GW PRIOR TW
Citation: Gw. Paulson et Tw. Prior, ISSUES RELATED TO DNA TESTING FOR HUNTINGTONS-DISEASE IN SYMPTOMATIC PATIENTS, Seminars in neurology, 17(3), 1997, pp. 235-238
DETECTION OF VIRAL-DNA IN VESTIBULAR GANGLIA TISSUE FROM PATIENTS WITH MENIERES-DISEASE
Authors: WELLING DB MILES BA WESTERN L PRIOR TW
Citation: Db. Welling et al., DETECTION OF VIRAL-DNA IN VESTIBULAR GANGLIA TISSUE FROM PATIENTS WITH MENIERES-DISEASE, The American journal of otology, 18(6), 1997, pp. 734-737
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
DIFFERENTIAL-DIAGNOSIS OF HEREDITARY HEMOCHROMATOSIS FROM OTHER LIVERDISORDERS
Authors: BARTOLO C MCANDREW PE SOSOLIK RC CAWLEY KA BALCERZAK SP BRANDT JT PRIOR TW
Citation: C. Bartolo et al., DIFFERENTIAL-DIAGNOSIS OF HEREDITARY HEMOCHROMATOSIS FROM OTHER LIVERDISORDERS, American journal of human genetics, 61(4), 1997, pp. 507-507
DIFFERENTIAL-DIAGNOSIS OF DWARFISM USING AN FGFR3 GENE MUTATION PANEL
Authors: SOMMER A BARTOLO C SCHAUER GM PRIOR TW
Citation: A. Sommer et al., DIFFERENTIAL-DIAGNOSIS OF DWARFISM USING AN FGFR3 GENE MUTATION PANEL, American journal of human genetics, 61(4), 1997, pp. 641-641
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
THE SURVIVAL MOTOR-NEURON PROTEIN (SMN) IN SPINAL MUSCULAR-ATROPHY (SMA)
Authors: COOVERT DD LE T MCANDREW PE STRASSWIMMER J CRAWFORD TO MENDELL JR ANDROPHY E PRIOR TW BURGHES AHM
Citation: Dd. Coovert et al., THE SURVIVAL MOTOR-NEURON PROTEIN (SMN) IN SPINAL MUSCULAR-ATROPHY (SMA), American journal of human genetics, 61(4), 1997, pp. 1926-1926
METHYLATION ANALYSIS OF THE FRAGILE-X-SYNDROME BY PCR
Authors: DAS S KUBOTA T SONG M DANIEL R BERRYKRAVIS EM POPOVICH B PRIOR TW ARINAMI T RAVINE D LEDBETTER DH
Citation: S. Das et al., METHYLATION ANALYSIS OF THE FRAGILE-X-SYNDROME BY PCR, American journal of human genetics, 61(4), 1997, pp. 1933-1933
PREVALENCE OF APPARENT GENE CONVERSION EVENTS IN SPINAL MUSCULAR-ATROPHY
Authors: MCANDREW PE PARSONS DW MENDELL JR BURGHES AHM PRIOR TW
Citation: Pe. Mcandrew et al., PREVALENCE OF APPARENT GENE CONVERSION EVENTS IN SPINAL MUSCULAR-ATROPHY, American journal of human genetics, 61(4), 1997, pp. 1988-1988
IDENTIFICATION OF PROXIMAL SPINAL MUSCULAR-ATROPHY CARRIERS AND PATIENTS BY ANALYSIS OF SMNT AND SMNC GENE COPY NUMBER
Authors: MCANDREW PE PARSONS DW SIMARD LR ROCHETTE C RAY PN MENDELL JR PRIOR TW BURGHES AHM
Citation: Pe. Mcandrew et al., IDENTIFICATION OF PROXIMAL SPINAL MUSCULAR-ATROPHY CARRIERS AND PATIENTS BY ANALYSIS OF SMNT AND SMNC GENE COPY NUMBER, American journal of human genetics, 60(6), 1997, pp. 1411-1422
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
AN 11 BASE-PAIR DUPLICATION IN EXON-6 OF THE SMN GENE PRODUCES A TYPE-I SPINAL MUSCULAR-ATROPHY (SMA) PHENOTYPE - FURTHER EVIDENCE FOR SMN AS THE PRIMARY SMA-DETERMINING GENE
Authors: PARSONS DW MCANDREW PE MONANI UR MENDELL JR BURGHES AHM PRIOR TW
Citation: Dw. Parsons et al., AN 11 BASE-PAIR DUPLICATION IN EXON-6 OF THE SMN GENE PRODUCES A TYPE-I SPINAL MUSCULAR-ATROPHY (SMA) PHENOTYPE - FURTHER EVIDENCE FOR SMN AS THE PRIMARY SMA-DETERMINING GENE, Human molecular genetics, 5(11), 1996, pp. 1727-1732
MUTATIONAL SPECTRUM IN THE NEUROFIBROMATOSIS TYPE-2 GENE IN SPORADIC AND FAMILIAL SCHWANNOMAS
Authors: WELLING DB GUIDA M GOLL F PEARL DK GLASSCOCK ME PAPPAS DG LINTHICUM FH ROGERS D PRIOR TW
Citation: Db. Welling et al., MUTATIONAL SPECTRUM IN THE NEUROFIBROMATOSIS TYPE-2 GENE IN SPORADIC AND FAMILIAL SCHWANNOMAS, Human genetics, 98(2), 1996, pp. 189-193
THE INCIDENCE OF THE GENE FOR THERMOLABILE METHYLENE TETRAHYDROFOLATEREDUCTASE IN AFRICAN-AMERICANS
Authors: MCANDREW PE BRANDT JT PEARL DK PRIOR TW
Citation: Pe. Mcandrew et al., THE INCIDENCE OF THE GENE FOR THERMOLABILE METHYLENE TETRAHYDROFOLATEREDUCTASE IN AFRICAN-AMERICANS, Thrombosis research, 83(2), 1996, pp. 195-198
A NOVEL MECHANISM FOR THE EXPRESSION OF DYSTROPHIN IN A DUCHENNE MUSCULAR-DYSTROPHY PATIENT
Authors: TSAO CY BARTOLO C LUQUETTE MH MENDELL JR PRIOR TW
Citation: Cy. Tsao et al., A NOVEL MECHANISM FOR THE EXPRESSION OF DYSTROPHIN IN A DUCHENNE MUSCULAR-DYSTROPHY PATIENT, Neurology, 46(2), 1996, pp. 12002-12002
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
Risultati: 1-25 | 26-50