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Results: 1-13 |
Results: 13
LOCI FOR CLASSICAL AND A VARIANT LATE INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS MAP TO CHROMOSOMES 11P15 AND 15Q21-23
Authors: SHARP JD WHEELER RB LAKE BD SAVUKOSKI M JARVELA IE PELTONEN L GARDINER RM WILLIAMS RE
Citation: Jd. Sharp et al., LOCI FOR CLASSICAL AND A VARIANT LATE INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS MAP TO CHROMOSOMES 11P15 AND 15Q21-23, Human molecular genetics, 6(4), 1997, pp. 591-595
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
BIOSYNTHESIS AND SUBCELLULAR-LOCALIZATION OF THE CLN3 PROTEIN DEFECTIVE IN BATTEN-DISEASE
Authors: JARVELA IE SAINIO M RANTAMAKI T OLKKONEN V CARPEN O PELTONEN L JALANKO A
Citation: Ie. Jarvela et al., BIOSYNTHESIS AND SUBCELLULAR-LOCALIZATION OF THE CLN3 PROTEIN DEFECTIVE IN BATTEN-DISEASE, American journal of human genetics, 61(4), 1997, pp. 1469-1469
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
EXCLUSION MAPPING OF CLASSICAL LATE INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS (JANSKY-BIELSCHOWSKY DISEASE, CLN2)
Authors: SHARP JD WHEELER RB SAVUKOSKI M KESTILA M JARVELA IE PELTONEN L EIBERG H GARDINER RM WILLIAMS R
Citation: Jd. Sharp et al., EXCLUSION MAPPING OF CLASSICAL LATE INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS (JANSKY-BIELSCHOWSKY DISEASE, CLN2), European journal of human genetics, 3(5), 1995, pp. 326-328
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
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 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 .2. GENOMIC ALTERATIONS IN CLN3
Authors: TASCHNER PEM MITCHISON HM KREMMIDIOTIS G ORAWE A MUNROE PB DEVOS N BOUSTANY RM LENSINK I MEINCKE LJ ANDERSON JW DARIGO KL JARVELA IE BUCKLER AJ GUSELLA JF HAINES JL GARDINER RM SUTHERLAND GR DOGGETT NA CALLEN DF MOLE SE LERNER TJ BREUNING MH
Citation: Pem. Taschner et al., BATTEN-DISEASE .2. GENOMIC ALTERATIONS IN CLN3, American journal of human genetics, 57(4), 1995, pp. 1328-1328
BATTEN-DISEASE GENE, CLN3 - LINKAGE DISEQUILIBRIUM MAPPING IN THE FINNISH POPULATION, AND ANALYSIS OF EUROPEAN HAPLOTYPES
Authors: MITCHISON HM ORAWE AM TASCHNER PEM SANDKUIJL LA SANTAVUORI P DEVOS N BREUNING MH MOLE SE GARDINER RM JARVELA IE
Citation: Hm. Mitchison et al., BATTEN-DISEASE GENE, CLN3 - LINKAGE DISEQUILIBRIUM MAPPING IN THE FINNISH POPULATION, AND ANALYSIS OF EUROPEAN HAPLOTYPES, American journal of human genetics, 56(3), 1995, pp. 654-662
46,XX 69,XXX DIPLOID-TRIPLOID MIXOPLOIDY WITH HYPOTHYROIDISM AND PRECOCIOUS PUBERTY/
Authors: JARVELA IE SALO MK SANTAVUORI P SALONEN RK
Citation: Ie. Jarvela et al., 46,XX 69,XXX DIPLOID-TRIPLOID MIXOPLOIDY WITH HYPOTHYROIDISM AND PRECOCIOUS PUBERTY/, Journal of Medical Genetics, 30(11), 1993, pp. 966-967
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