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Results: 1-25 | 26-31
Results: 1-25/31
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
CHARACTERIZATION OF THE GENE ENCODING HUMAN SARCOLIPIN (SLN), A PROTEOLIPID ASSOCIATED WITH SERCA1 - ABSENCE OF STRUCTURAL MUTATIONS IN 5 PATIENTS WITH BRODY-DISEASE
Authors: ODERMATT A TASCHNER PEM SCHERER SW BEATTY B KHANNA VK CORNBLATH DR CHAUDHRY V YEE WC SCHRANK B KARPATI G BREUNING MH KNOERS N MACLENNAN DH
Citation: A. Odermatt et al., CHARACTERIZATION OF THE GENE ENCODING HUMAN SARCOLIPIN (SLN), A PROTEOLIPID ASSOCIATED WITH SERCA1 - ABSENCE OF STRUCTURAL MUTATIONS IN 5 PATIENTS WITH BRODY-DISEASE, Genomics, 45(3), 1997, pp. 541-553
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
CROSS-SPECIES HOMOLOGY OF THE CLN3 GENE
Authors: TASCHNER PEM DEVOS N BREUNING MH
Citation: Pem. Taschner et al., CROSS-SPECIES HOMOLOGY OF THE CLN3 GENE, Neuropediatrics, 28(1), 1997, pp. 18-20
MOLECULAR-CLONING OF THE HUMAN THIAZIDE-SENSITIVE SODIUM-CHLORIDE COTRANSPORTER (NCCT) AND IDENTIFICATION OF MUTATIONS IN PATIENTS WITH AUTOSOMAL-RECESSIVE GITELMAN-SYNDROME
Authors: LEMMINK HH VANDENHEUVEL LPWJ VANDIJK HA MERKX SFM SMILDE T TASCHNER PEM HEBERT SC MONNENS LAH KNOERS NAVM
Citation: Hh. Lemmink et al., MOLECULAR-CLONING OF THE HUMAN THIAZIDE-SENSITIVE SODIUM-CHLORIDE COTRANSPORTER (NCCT) AND IDENTIFICATION OF MUTATIONS IN PATIENTS WITH AUTOSOMAL-RECESSIVE GITELMAN-SYNDROME, Kidney international, 52(2), 1997, pp. 560-560
RAPID DETECTION OF THE MAJOR DELETION IN THE BATTEN-DISEASE GENE CLN3BY ALLELE-SPECIFIC PCR
Authors: TASCHNER PEM DEVOS N BREUNING MH
Citation: Pem. Taschner et al., RAPID DETECTION OF THE MAJOR DELETION IN THE BATTEN-DISEASE GENE CLN3BY ALLELE-SPECIFIC PCR, Journal of Medical Genetics, 34(11), 1997, pp. 955-956
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
MUTATIONS IN THE GENE-ENCODING SERCA1, THE FAST-TWITCH SKELETAL-MUSCLE SARCOPLASMIC-RETICULUM CA2+ ATPASE, ARE ASSOCIATED WITH BRODY DISEASE
Authors: ODERMATT A TASCHNER PEM KHANNA VK BUSCH HFM KARPATI G JABLECKI CK BREUNING MH MACLENNAN DH
Citation: A. Odermatt et al., MUTATIONS IN THE GENE-ENCODING SERCA1, THE FAST-TWITCH SKELETAL-MUSCLE SARCOPLASMIC-RETICULUM CA2+ ATPASE, ARE ASSOCIATED WITH BRODY DISEASE, Nature genetics, 14(2), 1996, pp. 191-194
LINKAGE OF GITELMAN-SYNDROME TO THE THIAZIDE-SODIUM-CHLORIDE COTRANSPORTER GENE WITH IDENTIFICATION OF MUTATIONS IN DUTCH FAMILIES (VOL 10,PG 403, 1996)
Authors: LEMMINK HH VANDENHEUVEL LPWJ VANDIJK HA MERKX GFM SMILDE TJ TASCHNER PEM MONNENS LAH HEBERT SC KNOERS NVAM
Citation: Hh. Lemmink et al., LINKAGE OF GITELMAN-SYNDROME TO THE THIAZIDE-SODIUM-CHLORIDE COTRANSPORTER GENE WITH IDENTIFICATION OF MUTATIONS IN DUTCH FAMILIES (VOL 10,PG 403, 1996), Pediatric nephrology, 10(5), 1996, pp. 1
LINKAGE OF GITELMAN-SYNDROME TO THE THIAZIDE-SENSITIVE SODIUM-CHLORIDE COTRANSPORTER GENE WITH IDENTIFICATION OF MUTATIONS IN DUTCH FAMILIES
Authors: LEMMINK HH VANDENHEUVEL LPWJ VANDIJK HA MERKX GFM SMILDE TJ TASCHNER PEM MONNENS LAH HEBERT SC KNOERS NVAM
Citation: Hh. Lemmink et al., LINKAGE OF GITELMAN-SYNDROME TO THE THIAZIDE-SENSITIVE SODIUM-CHLORIDE COTRANSPORTER GENE WITH IDENTIFICATION OF MUTATIONS IN DUTCH FAMILIES, Pediatric nephrology, 10(4), 1996, pp. 403-407
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
D16S298 NULL ALLELE MAY BE ASSOCIATED WITH A DELETION OF (PART OF) THE CLN3 GENE INVOLVED IN JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS (BATTEN-DISEASE IN A MOROCCAN PATIENT)
Authors: TASCHNER PEM DEVOS N BARIH PG BREUNING MH GARDINER RM CALLEN DF DOGGETT NA LERNER TJ DOOLEY T
Citation: Pem. Taschner et al., D16S298 NULL ALLELE MAY BE ASSOCIATED WITH A DELETION OF (PART OF) THE CLN3 GENE INVOLVED IN JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS (BATTEN-DISEASE IN A MOROCCAN PATIENT), Cytogenetics and cell genetics, 68(3-4), 1995, pp. 179-179
LATE-ONSET JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSITS (GROD)
Authors: HOFMAN IL TASCHNER PEM
Citation: Il. Hofman et Pem. Taschner, LATE-ONSET JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSITS (GROD), American journal of medical genetics, 57(2), 1995, pp. 165-167
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
ISOLATION OF GENES FROM THE BATTEN CANDIDATE REGION USING EXON AMPLIFICATION
Authors: LERNER TJ DARIGO KL HAINES JL DOGGETT NA TASCHNER PEM DEVOS N BUCKLER AJ
Citation: Tj. Lerner et al., ISOLATION OF GENES FROM THE BATTEN CANDIDATE REGION USING EXON AMPLIFICATION, American journal of medical genetics, 57(2), 1995, pp. 320-323
CARRIER DETECTION OF BATTEN-DISEASE (JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS)
Authors: TASCHNER PEM DEVOS N POST JG MEIJERSHEIJBOER EJ HOFMAN I LOONEN MCB PINCKERS AJLG WAGEMAKERS EM GARDINER RM BREUNING MH
Citation: Pem. Taschner et al., CARRIER DETECTION OF BATTEN-DISEASE (JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS), American journal of medical genetics, 57(2), 1995, pp. 333-337
APPLICATION OF CHROMOSOME-16 MARKERS IN THE DIFFERENTIAL-DIAGNOSIS OFNEURONAL CEROID-LIPOFUSCINOSIS
Authors: TASCHNER PEM DEVOS N CATSMANBERREVOETS CE VANDUINEN SG LINDHOUT D BREUNING MH
Citation: Pem. Taschner et al., APPLICATION OF CHROMOSOME-16 MARKERS IN THE DIFFERENTIAL-DIAGNOSIS OFNEURONAL CEROID-LIPOFUSCINOSIS, American journal of medical genetics, 57(2), 1995, pp. 338-343
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
REPLICASE-MEDIATED RESISTANCE TO ALFALFA MOSAIC-VIRUS
Authors: BREDERODE FT TASCHNER PEM POSTHUMUS E BOL JF
Citation: Ft. Brederode et al., REPLICASE-MEDIATED RESISTANCE TO ALFALFA MOSAIC-VIRUS, Virology, 207(2), 1995, pp. 467-474
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 | 26-31