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Results: 1-25 | 26-35
Results: 1-25/35
MUTATIONS IN THE PALMITOYL-PROTEIN THIOESTERASE GENE (PPT, CLN1) CAUSING JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSITS (VOL 7, PG 291, 1998)
Authors: MITCHISON HN HOFMANN SL BECERRA CHR MUNROE PB LAKE BD CROW YJ STEPHENSON JBP WILLIAMS RE HOFMAN IL TASCHNER PEM MARTIN JJ PHILIPPART M ANDERMANN E ANDERMANN F MOLE SE GARDINER RM ORAWE AM
Citation: Hn. Mitchison et al., MUTATIONS IN THE PALMITOYL-PROTEIN THIOESTERASE GENE (PPT, CLN1) CAUSING JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSITS (VOL 7, PG 291, 1998), Human molecular genetics, 7(4), 1998, pp. 765-765
MUTATIONS IN THE PALMITOYL-PROTEIN THIOESTERASE GENE (PPT, CLN1) CAUSING JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSITS
Authors: MITCHISON HM HOFMANN SL BECERRA CHR MUNROE PB LAKE BD CROW YJ STEPHENSON JBP WILLIAMS RE HOFMAN IL TASCHNER PEM MARTIN JJ PHILIPPART M ANDERMANN E ANDERMANN F MOLE SE GARDINER RM ORAWE AM
Citation: Hm. Mitchison et al., MUTATIONS IN THE PALMITOYL-PROTEIN THIOESTERASE GENE (PPT, CLN1) CAUSING JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSITS, Human molecular genetics, 7(2), 1998, pp. 291-297
EPITOPE MAPPING OF ANTIBODIES RECOGNIZING THE N-TERMINAL DOMAIN OF SIMIAN-VIRUS LARGE TUMOR-ANTIGEN
Authors: LINDNER K MOLE SE LANE DP KENNY MK
Citation: K. Lindner et al., EPITOPE MAPPING OF ANTIBODIES RECOGNIZING THE N-TERMINAL DOMAIN OF SIMIAN-VIRUS LARGE TUMOR-ANTIGEN, Intervirology, 41(1), 1998, pp. 10-16
SHARING OF PPT MUTATIONS BETWEEN DISTINCT CLINICAL FORMS OF NEURONAL CEROID-LIPOFUSCINOSES IN PATIENTS FROM SCOTLAND
Authors: MUNROE PB GREENE NDE LEUNG KY MOLE SE GARDINER RM MITCHISON HM STEPHENSON JBP CROW YJ
Citation: Pb. Munroe et al., SHARING OF PPT MUTATIONS BETWEEN DISTINCT CLINICAL FORMS OF NEURONAL CEROID-LIPOFUSCINOSES IN PATIENTS FROM SCOTLAND, Journal of Medical Genetics, 35(9), 1998, pp. 790-790
GENOMIC STRUCTURE AND COMPLETE NUCLEOTIDE-SEQUENCE OF THE BATTEN-DISEASE GENE, CLN3
Authors: MITCHISON HM MUNROE PB ORAWE AM TASCHNER PEM DEVOS N KREMMIDIOTIS G LENSINK I MUNK AC DARIGO KL ANDERSON JW LERNER TJ MOYZIS RK CALLEN DF BREUNING MH DOGGETT NA GARDINER RM MOLE SE
Citation: Hm. Mitchison et al., GENOMIC STRUCTURE AND COMPLETE NUCLEOTIDE-SEQUENCE OF THE BATTEN-DISEASE GENE, CLN3, Genomics, 40(2), 1997, pp. 346-350
STRUCTURE OF THE CLN3 GENE AND PREDICTED STRUCTURE, LOCATION AND FUNCTION OF CLN3 PROTEIN
Authors: MITCHISON HM TASCHNER PEM KREMMIDIOTIS G CALLEN DF DOGGETT NA LERNER TJ JANES RB WALLACE BA MUNROE PB ORAWE AM GARDINER RM MOLE SE
Citation: Hm. Mitchison et al., STRUCTURE OF THE CLN3 GENE AND PREDICTED STRUCTURE, LOCATION AND FUNCTION OF CLN3 PROTEIN, Neuropediatrics, 28(1), 1997, pp. 12-14
STRATEGY FOR MUTATION DETECTION IN CLN3 - CHARACTERIZATION OF 2 FINNISH MUTATIONS
Authors: MUNROE PB ORAWE AM MITCHISON HM JARVELA IE SANTAVUORI P LERNER TJ TASCHNER PEM GARDINER RM MOLE SE
Citation: Pb. Munroe et al., STRATEGY FOR MUTATION DETECTION IN CLN3 - CHARACTERIZATION OF 2 FINNISH MUTATIONS, Neuropediatrics, 28(1), 1997, pp. 15-17
GENETIC-LINKAGE ANALYSIS OF A VARIANT OF JUVENILE-ONSET NEURONAL CEROID-LIPOFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSITS
Authors: ORAWE A MITCHISON HM WILLIAMS R WHEELER R ANDERMANN E ANDERMANN F HART YM MARTIN JJ PHILIPPART M STEPHENSON JBP GARDINER RM MOLE SE
Citation: A. Orawe et al., GENETIC-LINKAGE ANALYSIS OF A VARIANT OF JUVENILE-ONSET NEURONAL CEROID-LIPOFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSITS, Neuropediatrics, 28(1), 1997, pp. 21-22
A VARIANT OF JUVENILE-ONSET BATTEN-DISEASE IS ALLELIC WITH INFANTILE BATTEN-DISEASE
Authors: MITCHISON HM HOFMANN SL BECERRA CHR MUNROE PB GARDINER RM MOLE SE ORAWE AM
Citation: Hm. Mitchison et al., A VARIANT OF JUVENILE-ONSET BATTEN-DISEASE IS ALLELIC WITH INFANTILE BATTEN-DISEASE, American journal of human genetics, 61(4), 1997, pp. 1995-1995
SPECTRUM OF MUTATIONS IN THE BATTEN-DISEASE GENE, CLN3
Authors: MUNROE PB MITCHISON HM ORAWE AM ANDERSON JW BOUSTANY RM LERNER TJ TASCHNER PEM DEVOS N BREUNING MH GARDINER RM MOLE SE
Citation: Pb. Munroe et al., SPECTRUM OF MUTATIONS IN THE BATTEN-DISEASE GENE, CLN3, American journal of human genetics, 61(2), 1997, pp. 310-316
PHYSICAL AND TRANSCRIPTIONAL MAPPING OF 16P12.3-P12.1
Authors: MOLE SE GREENHAM JA CREAVIN TA DOGGETT NA JARVELA IE MITCHISON HM MUNROE PB
Citation: Se. Mole et al., PHYSICAL AND TRANSCRIPTIONAL MAPPING OF 16P12.3-P12.1, Cytogenetics and cell genetics, 72(4), 1996, pp. 17-17
REPORT OF THE 4TH INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-16 MAPPING 1995 - HELD ON 12-14 NOVEMBER 1995 AT THE UNIVERSITY-OF-LEIDEN, THENETHERLANDS
Authors: ALTHERR MR AUERBACH AD BIGGS PO BURN TC BREUNING MH PETERS DJM TASCHNER P GILES R VANDERREIJDEN B CALLEN DF CLETONJANSEN AM DANIELS R DOGGETT NA DORIONBONNET F DRIOUCH K GIBSON R INGVARSSON S KASTNER DL KWITEKBLACK AE LANDEGENT JE LODER B MATTHIJS G MOLE SE OLSSON PG PORTER CJ PRONK JC RICKE DO SANDFORD R SAVOIA A SICILIANO MJ SOOD R
Citation: Mr. Altherr et al., REPORT OF THE 4TH INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-16 MAPPING 1995 - HELD ON 12-14 NOVEMBER 1995 AT THE UNIVERSITY-OF-LEIDEN, THENETHERLANDS, Cytogenetics and cell genetics, 72(4), 1996, pp. 271-285
RECENT ADVANCES IN THE MOLECULAR-GENETICS OF THE NEURONAL CEROID-LIPOFUSCINOSES
Authors: MOLE SE
Citation: Se. Mole, RECENT ADVANCES IN THE MOLECULAR-GENETICS OF THE NEURONAL CEROID-LIPOFUSCINOSES, Journal of inherited metabolic disease, 19(3), 1996, pp. 269-274
PRENATAL-DIAGNOSIS OF BATTENS DISEASE
Authors: MUNROE PB RAPOLA J MITCHISON HM MUSTONEN A MOLE SE GARDINER RM JARVELA I
Citation: Pb. Munroe et al., PRENATAL-DIAGNOSIS OF BATTENS DISEASE, Lancet, 347(9007), 1996, pp. 1014-1015
RAPID DIAGNOSTIC-TEST FOR THE MAJOR MUTATION UNDERLYING BATTEN-DISEASE
Authors: JARVELA I MITCHISON HM MUNROE PB ORAWE AM MOLE SE SYVANEN AC
Citation: I. Jarvela et al., RAPID DIAGNOSTIC-TEST FOR THE MAJOR MUTATION UNDERLYING BATTEN-DISEASE, Journal of Medical Genetics, 33(12), 1996, pp. 1041-1042
A MODEL FOR BATTEN-DISEASE PROTEIN CLN3 - FUNCTIONAL IMPLICATIONS FROM HOMOLOGY AND MUTATIONS
Authors: JANES RW MUNROE PB MITCHISON HM GARDINER RM MOLE SE WALLACE BA
Citation: Rw. Janes et al., A MODEL FOR BATTEN-DISEASE PROTEIN CLN3 - FUNCTIONAL IMPLICATIONS FROM HOMOLOGY AND MUTATIONS, FEBS letters, 399(1-2), 1996, pp. 75-77
YAC AND COSMID CONTIGS SPANNING THE BATTEN-DISEASE (CLN3) REGION AT 16P12.1-P11.2
Authors: JARVELA IE MITCHISON HM ORAWE AM MUNROE PB TASCHNER PEM DEVOS N LERNER TJ DARIGO KL CALLEN DF THOMPSON AD KNIGHT M MARRONE BL MUNDT MO MEINCKE L BREUNING MH GARDINER RM DOGGETT NA MOLE SE
Citation: Ie. Jarvela et al., YAC AND COSMID CONTIGS SPANNING THE BATTEN-DISEASE (CLN3) REGION AT 16P12.1-P11.2, Genomics, 29(2), 1995, pp. 478-489
LONG-RANGE RESTRICTION MAP OF A YAC CONTIG IN THE BATTEN-DISEASE REGION OF CHROMOSOME-16 AND EXCLUSION OF POTENTIAL CANDIDATE GENES FROM THIS REGION
Authors: JARVELA IE MITCHISON HM GARDINER RM CALLEN DF BREUNING MH LEMER TJ MOLE SE DOGGETT NA DOOLEY TP
Citation: Ie. Jarvela et al., LONG-RANGE RESTRICTION MAP OF A YAC CONTIG IN THE BATTEN-DISEASE REGION OF CHROMOSOME-16 AND EXCLUSION OF POTENTIAL CANDIDATE GENES FROM THIS REGION, Cytogenetics and cell genetics, 68(3-4), 1995, pp. 183-184
REFINED LOCALIZATION OF THE BATTEN-DISEASE GENE (CLN3) BY HAPLOTYPE AND LINKAGE DISEQUILIBRIUM MAPPING TO D16S288-D16S383 AND EXCLUSION FROM THIS REGION OF A VARIANT FORM OF BATTEN-DISEASE WITH GRANULAR OSMIOPHILIC DEPOSITS
Authors: MITCHISON HM ORAWE AM LERNER TJ TASCHNER PEM SCHLUMPF K DARIGO K DEVOS N GORMALLY E PHILLIPS HA THOMPSON AD HAINES JL HART YM ANDERMANN E CALLEN DF BREUNING MH GARDINER RM MOLE SE
Citation: Hm. Mitchison et al., REFINED LOCALIZATION OF THE BATTEN-DISEASE GENE (CLN3) BY HAPLOTYPE AND LINKAGE DISEQUILIBRIUM MAPPING TO D16S288-D16S383 AND EXCLUSION FROM THIS REGION OF A VARIANT FORM OF BATTEN-DISEASE WITH GRANULAR OSMIOPHILIC DEPOSITS, American journal of medical genetics, 57(2), 1995, pp. 312-315
PHYSICAL MAP OF THE REGION CONTAINING THE GENE FOR BATTEN-DISEASE (CLN3)
Authors: JARVELA IE MITCHISON HM CALLEN DF LERNER TJ DOGGETT NA TASCHNER PEM GARDINER RM MOLE SE
Citation: Ie. Jarvela et al., PHYSICAL MAP OF THE REGION CONTAINING THE GENE FOR BATTEN-DISEASE (CLN3), American journal of medical genetics, 57(2), 1995, pp. 316-319
ANALYSIS OF BATTEN-DISEASE CANDIDATE GENES STP AND STM
Authors: MUNROE PB MITCHISON HM DOOLEY TP GARDINER RM MOLE SE
Citation: Pb. Munroe et al., ANALYSIS OF BATTEN-DISEASE CANDIDATE GENES STP AND STM, American journal of medical genetics, 57(2), 1995, pp. 324-326
PHENOL SULFOTRANSFERASES - CANDIDATE GENES FOR BATTEN-DISEASE
Authors: DOOLEY TP PROBST P OBERMOELLER RD SICILIANO MJ DOGGETT NA CALLEN DF MITCHISON HM MOLE SE
Citation: Tp. Dooley et al., PHENOL SULFOTRANSFERASES - CANDIDATE GENES FOR BATTEN-DISEASE, American journal of medical genetics, 57(2), 1995, pp. 327-332
ISOLATION OF A NOVEL GENE UNDERLYING BATTEN-DISEASE, CLN3
Authors: LERNER TJ BOUSTANY RMN ANDERSON JW DARIGO KL SCHLUMPF K BUCKLER AJ GUSELLA JF HAINES JL KREMMIDIOTIS G LENSINK IL SUTHERLAND GR CALLEN DF TASCHNER PEM DEVOS N VANOMMEN GJB BREUNING MH DOGGETT NA MEINCKE LJ LIU ZY GOODWIN LA TESMER JG MITCHISON HM ORAWE AM MUNROE PB JARVELA IE GARDINER RM MOLE SE
Citation: Tj. Lerner et al., ISOLATION OF A NOVEL GENE UNDERLYING BATTEN-DISEASE, CLN3, Cell, 82(6), 1995, pp. 949-957
BATTEN-DISEASE .1. ISOLATION OF A CANDIDATE GENE FOR CLN3
Authors: LERNER TJ KREMMIDIOTIS G BOUSTANY RMN ANDERSON JW DARIGO KL BUCKLER AJ GUSELLA JF TASCHNER PEM DEVOS N MEINCKE LJ MITCHISON HM ORAWE A MUNROE PB JARVELA IE LENSINK IL GARDINER RM SUTHERLAND GR CALLEN DF DOGGETT NA BREUNING MH MOLE SE HAINES JL
Citation: Tj. Lerner et al., BATTEN-DISEASE .1. ISOLATION OF A CANDIDATE GENE FOR CLN3, American journal of human genetics, 57(4), 1995, pp. 23-23
BATTEN-DISEASE .3. GENOMIC STRUCTURE OF A CANDIDATE FOR CLN3
Authors: MITCHISON HM MUNROE PB ORAWE AM TASCHNER PEM KREMMIDIOTIS G LENSINK I MEINCKE LI DARIGO KL DEVOS N GARDINER RM CALLEN DF BREUNING MH LERNER TI DOGGETT NA MOLE SE
Citation: Hm. Mitchison et al., BATTEN-DISEASE .3. GENOMIC STRUCTURE OF A CANDIDATE FOR CLN3, American journal of human genetics, 57(4), 1995, pp. 836-836
Risultati: 1-25 | 26-35