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Results: 1-19 |
Results: 19
DUPLICATION 6Q21Q23 IN 2 UNRELATED PATIENTS
Authors: PRATT VM ROBERSON JR WEISS L VANDYKE DL
Citation: Vm. Pratt et al., DUPLICATION 6Q21Q23 IN 2 UNRELATED PATIENTS, American journal of medical genetics, 80(2), 1998, pp. 112-114
NONSENSE MUTATION IN EXON-3 OF THE PROTEOLIPID PROTEIN GENE (PLP) IN A FAMILY WITH AN UNUSUAL FORM OF PELIZAEUS-MERZBACHER-DISEASE
Authors: HODES ME BLANK CA PRATT VM MORALES J NAPIER J DLOUHY SR
Citation: Me. Hodes et al., NONSENSE MUTATION IN EXON-3 OF THE PROTEOLIPID PROTEIN GENE (PLP) IN A FAMILY WITH AN UNUSUAL FORM OF PELIZAEUS-MERZBACHER-DISEASE, American journal of medical genetics, 69(2), 1997, pp. 121-125
DUPLICATION 6Q21Q23 SYNDROME
Authors: PRATT VM ROBERSON JR WEISS L VANDYKE DL
Citation: Vm. Pratt et al., DUPLICATION 6Q21Q23 SYNDROME, American journal of human genetics, 61(4), 1997, pp. 784-784
DNA STUDIES OF LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A IN THE AMISH EXCLUDE A MODIFYING MITOCHONDRIAL GENE AND SHOW NO EVIDENCE FOR A MODIFYING NUCLEAR GENE
Authors: PRATT VM JACKSON CE WALLACE DC GURLEY DS FEIT A FELDMAN GL
Citation: Vm. Pratt et al., DNA STUDIES OF LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A IN THE AMISH EXCLUDE A MODIFYING MITOCHONDRIAL GENE AND SHOW NO EVIDENCE FOR A MODIFYING NUCLEAR GENE, American journal of human genetics, 61(1), 1997, pp. 231-233
ADULT-ONSET NEURODEGENERATIVE DISORDER DUE TO PROTEOLIPID PROTEIN GENE MUTATION IN THE MOTHER OF A MAN WITH PELIZAEUS-MERZBACHER DISEASE
Authors: NANCE MA BOYADJIEV S PRATT VM TAYLOR S HODES ME DLOUHY SR
Citation: Ma. Nance et al., ADULT-ONSET NEURODEGENERATIVE DISORDER DUE TO PROTEOLIPID PROTEIN GENE MUTATION IN THE MOTHER OF A MAN WITH PELIZAEUS-MERZBACHER DISEASE, Neurology, 47(5), 1996, pp. 1333-1335
PELIZAEUS-MERZBACHER DISEASE CAUSED BY A DE-NOVO MUTATION THAT ORIGINATED IN EXON-2 OF THE MATERNAL GREAT-GRANDFATHER OF THE PROPOSITUS
Authors: PRATT VM BOYADJIEV S GREEN K HODES ME DLOUHY SR
Citation: Vm. Pratt et al., PELIZAEUS-MERZBACHER DISEASE CAUSED BY A DE-NOVO MUTATION THAT ORIGINATED IN EXON-2 OF THE MATERNAL GREAT-GRANDFATHER OF THE PROPOSITUS, American journal of medical genetics, 58(1), 1995, pp. 70-73
GIRL WITH SIGNS OF PELIZAEUS-MERZBACHER DISEASE HETEROZYGOUS FOR A MUTATION IN EXON-2 OF THE PROTEOLIPID PROTEIN GENE
Authors: HODES ME DEMYER WE PRATT VM EDWARDS MK DLOUHY SR
Citation: Me. Hodes et al., GIRL WITH SIGNS OF PELIZAEUS-MERZBACHER DISEASE HETEROZYGOUS FOR A MUTATION IN EXON-2 OF THE PROTEOLIPID PROTEIN GENE, American journal of medical genetics, 55(4), 1995, pp. 397-401
PELIZAEUS-MERZBACHER-DISEASE IN A FAMILY OF PORTUGUESE ORIGIN CAUSED BY A POINT MUTATION IN EXON-5 OF THE PROTEOLIPID PROTEIN GENE
Authors: PRATT VM BOYADJIEV S DLOUHY SR SILVER K DERKALOUSTIAN VM HODES ME
Citation: Vm. Pratt et al., PELIZAEUS-MERZBACHER-DISEASE IN A FAMILY OF PORTUGUESE ORIGIN CAUSED BY A POINT MUTATION IN EXON-5 OF THE PROTEOLIPID PROTEIN GENE, American journal of medical genetics, 55(4), 1995, pp. 402-404
IN-FRAME DELETION IN THE PROTEOLIPID PROTEIN GENE OF A FAMILY WITH PELIZAEUS-MERZBACHER DISEASE
Authors: KLEINDORFER DO DLOUHY SR PRATT VM JONES MC TROFATTER JA HODES ME
Citation: Do. Kleindorfer et al., IN-FRAME DELETION IN THE PROTEOLIPID PROTEIN GENE OF A FAMILY WITH PELIZAEUS-MERZBACHER DISEASE, American journal of medical genetics, 55(4), 1995, pp. 405-407
NOVEL MUTATION IN EXON-3 OF THE PROTEOLIPID PROTEIN GENE IN PELIZAEUS-MERZBACHER-DISEASE
Authors: PRATT VM NAIDU S DLOUHY SR MARKS HG HODES ME
Citation: Vm. Pratt et al., NOVEL MUTATION IN EXON-3 OF THE PROTEOLIPID PROTEIN GENE IN PELIZAEUS-MERZBACHER-DISEASE, Neurology, 45(2), 1995, pp. 394-395
PELIZAEUS-MERZBACHER-DISEASE - A POINT MUTATION IN EXON-6 OF THE PROTEOLIPID PROTEIN (PLP) GENE
Authors: PRATT VM DLOUHY SR HODES ME
Citation: Vm. Pratt et al., PELIZAEUS-MERZBACHER-DISEASE - A POINT MUTATION IN EXON-6 OF THE PROTEOLIPID PROTEIN (PLP) GENE, Clinical genetics, 47(2), 1995, pp. 99-100
SEARCH FOR EVIDENCE OF DIGENIC INHERITANCE OF LIMB-GIRDLE MUSCULAR-DYSTROPHY (LGMD2A) IN THE NORTHERN INDIANA AND PENNSYLVANIA AMISH POPULATION
Authors: PRATT VM RICHARD I BECKMANN JS JACKSON CE FELDMAN GL
Citation: Vm. Pratt et al., SEARCH FOR EVIDENCE OF DIGENIC INHERITANCE OF LIMB-GIRDLE MUSCULAR-DYSTROPHY (LGMD2A) IN THE NORTHERN INDIANA AND PENNSYLVANIA AMISH POPULATION, American journal of human genetics, 57(4), 1995, pp. 1974-1974
GENETICS OF PELIZAEUS-MERZBACHER DISEASE
Authors: HODES ME PRATT VM DLOUHY SR
Citation: Me. Hodes et al., GENETICS OF PELIZAEUS-MERZBACHER DISEASE, Developmental neuroscience, 15(6), 1993, pp. 383-394
PELIZAEUS-MERZBACHER DISEASE CAUSED BY DENOVO MUTATION
Authors: DLOUHY SR PRATT VM BOYADJIEV SA HODES ME
Citation: Sr. Dlouhy et al., PELIZAEUS-MERZBACHER DISEASE CAUSED BY DENOVO MUTATION, Journal of neuropathology and experimental neurology, 52(3), 1993, pp. 331-331
DETECTION OF PLP GENE-MUTATIONS IN PATIENTS WITH PELIZAEUS-MERZBACHERDISEASE BY SINGLE-STRAND CONFORMATIONAL-ANALYSIS
Authors: BOYADJIEV S SAHOTA A PRATT VM DLOUHY SR HODES ME
Citation: S. Boyadjiev et al., DETECTION OF PLP GENE-MUTATIONS IN PATIENTS WITH PELIZAEUS-MERZBACHERDISEASE BY SINGLE-STRAND CONFORMATIONAL-ANALYSIS, American journal of human genetics, 53(3), 1993, pp. 1131-1131
AN IN-FRAME DELETION IN THE PROTEOLIPID PROTEIN GENE IN A FAMILY WITHPELIZAEUS-MERZBACHER DISEASE
Authors: KLEINDORFER DO PRATT VM TROFATTER JA DLOUHY SR HODES ME
Citation: Do. Kleindorfer et al., AN IN-FRAME DELETION IN THE PROTEOLIPID PROTEIN GENE IN A FAMILY WITHPELIZAEUS-MERZBACHER DISEASE, American journal of human genetics, 53(3), 1993, pp. 1171-1171
ADULT-ONSET NEUROLOGICAL DISORDER IN A PELIZAEUS-MERZBACHER DISEASE CARRIER MOTHER
Authors: NANCE MA PRATT VM BOYADJIEV S TAYLOR S HODES ME DLOUHY SR
Citation: Ma. Nance et al., ADULT-ONSET NEUROLOGICAL DISORDER IN A PELIZAEUS-MERZBACHER DISEASE CARRIER MOTHER, American journal of human genetics, 53(3), 1993, pp. 1745-1745
PELIZAEUS-MERZBACHER DISEASE IN A FAMILY OF PORTUGUESE ORIGIN CAUSED BY A POINT MUTATION IN EXON 5 OF THE PLP GENE
Authors: PRATT VM BOYADJEV S DLOUHY S SILVER K DERKALOUSTIAN V HODES ME
Citation: Vm. Pratt et al., PELIZAEUS-MERZBACHER DISEASE IN A FAMILY OF PORTUGUESE ORIGIN CAUSED BY A POINT MUTATION IN EXON 5 OF THE PLP GENE, American journal of human genetics, 53(3), 1993, pp. 1751-1751
LINKAGE OF A NEW MUTATION IN THE PROTEOLIPID PROTEIN (PLP) GENE TO PELIZAEUS-MERZBACHER DISEASE (PMD) IN A LARGE FINNISH KINDRED
Authors: PRATT VM KIEFER JR LAHDETIE J SCHLEUTKER J HODES ME DLOUHY SR
Citation: Vm. Pratt et al., LINKAGE OF A NEW MUTATION IN THE PROTEOLIPID PROTEIN (PLP) GENE TO PELIZAEUS-MERZBACHER DISEASE (PMD) IN A LARGE FINNISH KINDRED, American journal of human genetics, 52(6), 1993, pp. 1053-1056
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