AAAAAA

   
Results: 1-25 | 26-46
Results: 1-25/46
DAX1 MUTATIONS MAP TO PUTATIVE STRUCTURAL DOMAINS IN A DEDUCED 3-DIMENSIONAL MODEL
Authors: ZHANG YH GUO WW WAGNER RL HUANG BL MCCABE L VILAIN E BURRIS TP ANYANEYEBOA K BURGHES AHM CHITAYAT D CHUDLEY AE GENEL M GERTNER JM KLINGENSMITH GJ LEVINE SN NAKAMOTO J NEW MI PAGON RA PAPPAS LC QUIGLEY CA ROSENTHAL IM BAXTER JD FETTERICK RJ MCCABE ERB
Citation: Yh. Zhang et al., DAX1 MUTATIONS MAP TO PUTATIVE STRUCTURAL DOMAINS IN A DEDUCED 3-DIMENSIONAL MODEL, American journal of human genetics, 62(4), 1998, pp. 855-864
SMN OLIGOMERIZATION DEFECT CORRELATES WITH SPINAL MUSCULAR-ATROPHY SEVERITY
Authors: LORSON CL STRASSWIMMER J YAO JM BALEJA JD HAHNEN E WIRTH B LE T BURGHES AHM ANDROPHY EJ
Citation: Cl. Lorson et al., SMN OLIGOMERIZATION DEFECT CORRELATES WITH SPINAL MUSCULAR-ATROPHY SEVERITY, Nature genetics, 19(1), 1998, pp. 63-66
IDENTIFICATION AND CHARACTERIZATION OF RPTP-RHO, A NOVEL RPTP-MU KAPPA-LIKE RECEPTOR PROTEIN-TYROSINE-PHOSPHATASE WHOSE EXPRESSION IS RESTRICTED TO THE CENTRAL-NERVOUS-SYSTEM/
Authors: MCANDREW PE FROSTHOLM A WHITE RA ROTTER A BURGHES AHM
Citation: Pe. Mcandrew et al., IDENTIFICATION AND CHARACTERIZATION OF RPTP-RHO, A NOVEL RPTP-MU KAPPA-LIKE RECEPTOR PROTEIN-TYROSINE-PHOSPHATASE WHOSE EXPRESSION IS RESTRICTED TO THE CENTRAL-NERVOUS-SYSTEM/, Molecular brain research, 56(1-2), 1998, pp. 9-21
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
NOVEL RECEPTOR PROTEIN-TYROSINE-PHOSPHATASE (RPTP-RHO) AND ACIDIC FIBROBLAST GROWTH-FACTOR (FGF-1) TRANSCRIPTS DELINEATE A ROSTROCAUDAL BOUNDARY IN THE GRANULE CELL LAYER OF THE MURINE CEREBELLAR CORTEX
Authors: MCANDREW PE FROSTHOLM A EVANS JE ZDILAR D GOLDOWITZ D CHIU IM BURGHES AHM ROTTER A
Citation: Pe. Mcandrew et al., NOVEL RECEPTOR PROTEIN-TYROSINE-PHOSPHATASE (RPTP-RHO) AND ACIDIC FIBROBLAST GROWTH-FACTOR (FGF-1) TRANSCRIPTS DELINEATE A ROSTROCAUDAL BOUNDARY IN THE GRANULE CELL LAYER OF THE MURINE CEREBELLAR CORTEX, Journal of comparative neurology, 391(4), 1998, pp. 444-455
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
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
IDENTIFICATION OF MIP-4, A NOVEL HUMAN CC-CHEMOKINE IN THE CHEMOKINE GENE-CLUSTER
Authors: GUAN P CUNNINGHAM A LIRA P BRISSETTE WH NEOTE K BURGHES AHM
Citation: P. Guan et al., IDENTIFICATION OF MIP-4, A NOVEL HUMAN CC-CHEMOKINE IN THE CHEMOKINE GENE-CLUSTER, American journal of human genetics, 61(4), 1997, pp. 995-995
THE SURVIVAL MOTOR-NEURON (SMN) ISOFORMS AND THEIR LOCALIZATION
Authors: LE TT COOVERT DD BURGHES AHM
Citation: Tt. Le et al., THE SURVIVAL MOTOR-NEURON (SMN) ISOFORMS AND THEIR LOCALIZATION, American journal of human genetics, 61(4), 1997, pp. 1011-1011
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
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
WHEN IS A DELETION NOT A DELETION - WHEN IT IS CONVERTED
Authors: BURGHES AHM
Citation: Ahm. Burghes, WHEN IS A DELETION NOT A DELETION - WHEN IT IS CONVERTED, American journal of human genetics, 61(1), 1997, pp. 9-15
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
STRUCTURE OF THE HUMAN ALPHA(2) SUBUNIT GENE OF THE GLYCINE RECEPTOR - USE OF VECTORETTE AND ALU-EXON PCR
Authors: MONANI U BURGHES AHM
Citation: U. Monani et Ahm. Burghes, STRUCTURE OF THE HUMAN ALPHA(2) SUBUNIT GENE OF THE GLYCINE RECEPTOR - USE OF VECTORETTE AND ALU-EXON PCR, PCR methods and applications, 6(12), 1996, pp. 1200-1206
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
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 NOVEL CDNA DETECTS HOMOZYGOUS MICRODELETIONS IN GREATER-THAN 50-PERCENT OF TYPE-I SPINAL MUSCULAR-ATROPHY PATIENTS
Authors: THOMPSON TG DIDONATO CJ SIMARD LR INGRAHAM SE BURGHES AHM CRAWFORD TO ROCHETTE C MENDELL JR WASMUTH JJ
Citation: Tg. Thompson et al., A NOVEL CDNA DETECTS HOMOZYGOUS MICRODELETIONS IN GREATER-THAN 50-PERCENT OF TYPE-I SPINAL MUSCULAR-ATROPHY PATIENTS, Nature genetics, 9(1), 1995, pp. 56-62
ALLELIC ASSOCIATION AND DELETIONS IN AUTOSOMAL RECESSIVE PROXIMAL SPINAL MUSCULAR-ATROPHY - ASSOCIATION OF MARKER GENOTYPE WITH DISEASE SEVERITY AND CANDIDATE CDNAS
Authors: WIRTH B HAHNEN E MORGAN K DIDONATO CJ DADZE A RUDNIKSCHONEBORN S SIMARD LR ZERRES K BURGHES AHM
Citation: B. Wirth et al., ALLELIC ASSOCIATION AND DELETIONS IN AUTOSOMAL RECESSIVE PROXIMAL SPINAL MUSCULAR-ATROPHY - ASSOCIATION OF MARKER GENOTYPE WITH DISEASE SEVERITY AND CANDIDATE CDNAS, Human molecular genetics, 4(8), 1995, pp. 1273-1284
REFINED PHYSICAL MAP OF THE SPINAL MUSCULAR-ATROPHY GENE (SMA) REGIONAT 5Q13 BASED ON YAC AND COSMID CONTIGUOUS ARRAYS
Authors: ROY N MCLEAN MD BESNERJOHNSTON A LEFEBVRE C SALIH M CARPTEN JD BURGHES AHM YARAGHI Z IKEDA JE KORNELUK RG MACKENZIE AE
Citation: N. Roy et al., REFINED PHYSICAL MAP OF THE SPINAL MUSCULAR-ATROPHY GENE (SMA) REGIONAT 5Q13 BASED ON YAC AND COSMID CONTIGUOUS ARRAYS, Genomics, 26(3), 1995, pp. 451-460
MYOBLAST TRANSFER IN THE TREATMENT OF DUCHENNES MUSCULAR-DYSTROPHY
Authors: MENDELL JR KISSEL JT AMATO AA KING W SIGNORE L PRIOR TW SAHENK Z BESSON S MCANDREW PE RICE R NAGARAJA H STEPHENS R LANTRY L MORRIS GE BURGHES AHM
Citation: Jr. Mendell et al., MYOBLAST TRANSFER IN THE TREATMENT OF DUCHENNES MUSCULAR-DYSTROPHY, The New England journal of medicine, 333(13), 1995, pp. 832-838
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
Risultati: 1-25 | 26-46