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Results: 1-25 | 26-50 | 51-75 | 76-98
Results: 26-50/98
GDI IS RESPONSIBLE FOR X-LINKED MENTAL-RETARDATION
Authors: DADAMO P GULISANO M OOSTRA BA CHELLY J TONIOLO D
Citation: P. Dadamo et al., GDI IS RESPONSIBLE FOR X-LINKED MENTAL-RETARDATION, American journal of human genetics, 61(4), 1997, pp. 45-45
FMR1, FXR1 AND FXR2 PROTEINS IN HUMAN BRAIN AND TESTIS
Authors: HOOGEVEEN AT TAMANINI F WILLEMSEN R VANUNEN L BONTEKOE CJM GALJAARD H OOSTRA BA
Citation: At. Hoogeveen et al., FMR1, FXR1 AND FXR2 PROTEINS IN HUMAN BRAIN AND TESTIS, American journal of human genetics, 61(4), 1997, pp. 133-133
A FRAGILE-X SCREENING-PROGRAM IN THE NETHERLANDS - PREVALENCE OF FRAGILE-X-SYNDROME LOWER THAN PREVIOUSLY CONSIDERED, BUT THE DISORDER IS STILL UNDERDIAGNOSED
Authors: DEVRIES BBA VANDENOUWELAND AMW MOHKAMSING S DUIVENVOORDEN HJ HALLEY DJJ SANDKUIJL LA OOSTRA BA TIBBEN A NIERMEIJER MF
Citation: Bba. Devries et al., A FRAGILE-X SCREENING-PROGRAM IN THE NETHERLANDS - PREVALENCE OF FRAGILE-X-SYNDROME LOWER THAN PREVIOUSLY CONSIDERED, BUT THE DISORDER IS STILL UNDERDIAGNOSED, American journal of human genetics, 61(4), 1997, pp. 1267-1267
IN-VITRO REACTIVATION OF THE FRAGILE-X-SYNDROME GENE
Authors: CHIURAZZI P POMPONI MG WILLEMSEN R OOSTRA BA NERI G
Citation: P. Chiurazzi et al., IN-VITRO REACTIVATION OF THE FRAGILE-X-SYNDROME GENE, American journal of human genetics, 61(4), 1997, pp. 1786-1786
FMRP EXPRESSION AS A POTENTIAL PROGNOSTIC INDICATOR IN FRAGILE-X-SYNDROME
Authors: TASSONE F HAGERMAN RJ IKLE D DYER PN LAMPE M WILLEMSEN R OOSTRA BA TAYLOR AK
Citation: F. Tassone et al., FMRP EXPRESSION AS A POTENTIAL PROGNOSTIC INDICATOR IN FRAGILE-X-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 1880-1880
SCREENING AND DIAGNOSIS FOR THE FRAGILE-X-SYNDROME AMONG THE MENTALLY-RETARDED - AN EPIDEMIOLOGIC AND PSYCHOLOGICAL SURVEY
Authors: DEVRIES BBA VANDENOUWELAND AMW MOHKAMSING S DUIVENVOORDEN HJ MOL E GELSEMA K VANRIJN M HALLEY DJJ SANDKUIJL LA OOSTRA BA TIBBEN A NIERMEIJER MF
Citation: Bba. Devries et al., SCREENING AND DIAGNOSIS FOR THE FRAGILE-X-SYNDROME AMONG THE MENTALLY-RETARDED - AN EPIDEMIOLOGIC AND PSYCHOLOGICAL SURVEY, American journal of human genetics, 61(3), 1997, pp. 660-667
CHARACTERIZATION OF FMR1 PROMOTER ELEMENTS BY IN-VIVO - FOOTPRINTING ANALYSIS
Authors: SCHWEMMLE S DEGRAAFF E DEISSLER H GLASER D WOHRLE D KENNERKNECHT I JUST W OOSTRA BA DORFLER W VOGEL W STEINBACH P
Citation: S. Schwemmle et al., CHARACTERIZATION OF FMR1 PROMOTER ELEMENTS BY IN-VIVO - FOOTPRINTING ANALYSIS, American journal of human genetics, 60(6), 1997, pp. 1354-1362
MEAN CORPUSCULAR HEMOGLOBIN IS NOT INCREASED IN FMR1 KNOCKOUT MICE
Authors: REYNIERS E VANBOCKSTAELE DR DEBOULLE K KOOY RF BAKKER CE OOSTRA BA WILLEMS PJ
Citation: E. Reyniers et al., MEAN CORPUSCULAR HEMOGLOBIN IS NOT INCREASED IN FMR1 KNOCKOUT MICE, Human genetics, 97(1), 1996, pp. 49-50
TRANSGENIC MOUSE MODEL FOR THE FRAGILE-X SYNDROME
Authors: KOOY RF DHOOGE R REYNIERS E BAKKER CE NAGELS G DEBOULLE K STORM K CLINCKE G DEDEYN PP OOSTRA BA WILLEMS PJ
Citation: Rf. Kooy et al., TRANSGENIC MOUSE MODEL FOR THE FRAGILE-X SYNDROME, American journal of medical genetics, 64(2), 1996, pp. 241-245
LONG-TERM POTENTIATION IN THE HIPPOCAMPUS OF FRAGILE-X KNOCKOUT MICE
Authors: GODFRAIND JM REYNIERS E DEBOULLE K DHOOGE R DEDEYN PP BAKKER CE OOSTRA BA KOOY RF WILLEMS PJ
Citation: Jm. Godfraind et al., LONG-TERM POTENTIATION IN THE HIPPOCAMPUS OF FRAGILE-X KNOCKOUT MICE, American journal of medical genetics, 64(2), 1996, pp. 246-251
THE FRAGILE-X PHENOTYPE IN A MOSAIC MALE WITH A DELETION SHOWING EXPRESSION OF THE FMR1 PROTEIN IN 28-PERCENT OF THE CELLS
Authors: DEGRAAFF E DEVRIES BBA WILLEMSEN R VANHEMEL JO MOHKAMSING S OOSTRA BA VANDENOUWELAND AMW
Citation: E. Degraaff et al., THE FRAGILE-X PHENOTYPE IN A MOSAIC MALE WITH A DELETION SHOWING EXPRESSION OF THE FMR1 PROTEIN IN 28-PERCENT OF THE CELLS, American journal of medical genetics, 64(2), 1996, pp. 302-308
RAPID SCREENING-TEST FOR FRAGILE-X SYNDROME
Authors: OOSTRA BA WILLEMSEN R MANDEL JL DEVRIES B DEVYS D
Citation: Ba. Oostra et al., RAPID SCREENING-TEST FOR FRAGILE-X SYNDROME, American journal of medical genetics, 64(1), 1996, pp. 18-18
ACCEPTANCE OF SCREENING FOR THE FRAGILE-X-SYNDROME AMONG 1878 MENTALLY-RETARDED INDIVIDUALS IN INSTITUTIONS AND SPECIAL-SCHOOLS IN THE NETHERLANDS
Authors: DEVRIES BBA VANDENOUWELAND AMW MOHKAMSING S HALLEY DJJ TIBBEN A OOSTRA BA GALJAARD H NIERMEIJER MF
Citation: Bba. Devries et al., ACCEPTANCE OF SCREENING FOR THE FRAGILE-X-SYNDROME AMONG 1878 MENTALLY-RETARDED INDIVIDUALS IN INSTITUTIONS AND SPECIAL-SCHOOLS IN THE NETHERLANDS, American journal of medical genetics, 64(1), 1996, pp. 20-20
MENTAL STATUS AND FMR1 GENE MUTATION IN FEMALES
Authors: DEVRIES BBA WIEGERS AM SMITS APT FRYNS JP CURFS LMG VANOOST BA HALLEY DJJ OOSTRA BA VANDENOUWELAND AMW NIERMEIJER MF
Citation: Bba. Devries et al., MENTAL STATUS AND FMR1 GENE MUTATION IN FEMALES, American journal of medical genetics, 64(1), 1996, pp. 20-20
A GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION (MRX41) IS LOCATEDIN THE DISTAL SEGMENT OF XQ28
Authors: HAMEL BCJ KREMER H WESBYVANSWAAY E VANDENHELM B SMITS APT OOSTRA BA ROPERS HH MARIMAN ECM
Citation: Bcj. Hamel et al., A GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION (MRX41) IS LOCATEDIN THE DISTAL SEGMENT OF XQ28, American journal of medical genetics, 64(1), 1996, pp. 131-133
FRAGILE-X FOUNDER CHROMOSOMES IN ITALY - A FEW INITIAL EVENTS AND POSSIBLE EXPLANATION FOR THEIR HETEROGENEITY
Authors: CHIURAZZI P GENUARDI M KOZAK L GIOVANNUCCIUZIELLI ML BUSSANI C DAGNABRICARELLI F GRASSO M PERRONI L SEBASTIO G SPERANDEO MP OOSTRA BA NERI G
Citation: P. Chiurazzi et al., FRAGILE-X FOUNDER CHROMOSOMES IN ITALY - A FEW INITIAL EVENTS AND POSSIBLE EXPLANATION FOR THEIR HETEROGENEITY, American journal of medical genetics, 64(1), 1996, pp. 209-215
EXTENDED GENE DIVERSITY AT TIRE FMR1 LOCUS AND NEIGHBORING CA REPEATSIN A SUB-SAHARAN POPULATION
Authors: CHIURAZZI P DESTROBISOL G GENUARDI M OOSTRA BA SPEDINI G NERI G
Citation: P. Chiurazzi et al., EXTENDED GENE DIVERSITY AT TIRE FMR1 LOCUS AND NEIGHBORING CA REPEATSIN A SUB-SAHARAN POPULATION, American journal of medical genetics, 64(1), 1996, pp. 216-219
PRENATAL-DIAGNOSIS OF FRAGILE-X SYNDROME
Authors: WILLEMSEN R OOSTERWIJK JC LOS FJ GALJAARD H OOSTRA BA
Citation: R. Willemsen et al., PRENATAL-DIAGNOSIS OF FRAGILE-X SYNDROME, Lancet, 348(9032), 1996, pp. 967-968
A MUTATION IN THE INTERFERON-GAMMA-RECEPTOR GENE AND SUSCEPTIBILITY TO MYCOBACTERIAL INFECTION
Authors: NEWPORT MJ HUXLEY CM HUSTON S HAWRYLOWICZ CM OOSTRA BA WILLIAMSON R LEVIN M
Citation: Mj. Newport et al., A MUTATION IN THE INTERFERON-GAMMA-RECEPTOR GENE AND SUSCEPTIBILITY TO MYCOBACTERIAL INFECTION, The New England journal of medicine, 335(26), 1996, pp. 1941-1949
THE GENETIC-BASIS OF GILBERTS-SYNDROME - REPLY
Authors: BOSMA PJ OOSTRA BA
Citation: Pj. Bosma et Ba. Oostra, THE GENETIC-BASIS OF GILBERTS-SYNDROME - REPLY, The New England journal of medicine, 334(12), 1996, pp. 803-803
CLONING, CHARACTERIZATION AND PROPERTIES OF PLASMIDS CONTAINING CGG TRIPLET REPEATS FROM THE FMR-1 GENE
Authors: SHIMIZU M GELLIBOLIAN R OOSTRA BA WELLS RD
Citation: M. Shimizu et al., CLONING, CHARACTERIZATION AND PROPERTIES OF PLASMIDS CONTAINING CGG TRIPLET REPEATS FROM THE FMR-1 GENE, Journal of Molecular Biology, 258(4), 1996, pp. 614-626
VARIABLE FMR1 GENE METHYLATION OF LARGE EXPANSIONS LEADS TO VARIABLE PHENOTYPE IN 3 MALES FROM ONE FRAGILE-X FAMILY
Authors: DEVRIES BBA JANSEN CCAM DUITS AA VERHEIJ C WILLEMSEN R VANHEMEL JO VANDENOUWELAND AMW NIERMEIJER MF OOSTRA BA HALLEY DJJ
Citation: Bba. Devries et al., VARIABLE FMR1 GENE METHYLATION OF LARGE EXPANSIONS LEADS TO VARIABLE PHENOTYPE IN 3 MALES FROM ONE FRAGILE-X FAMILY, Journal of Medical Genetics, 33(12), 1996, pp. 1007-1010
AUTOSOMAL-DOMINANT CENTRAL AREOLAR CHOROIDAL DYSTROPHY CAUSED BY A MUTATION IN CODON-142 IN THE PERIPHERIN RDS GENE/
Authors: HOYNG CB HEUTINK P TESTERS L PINCKERS A DEUTMAN AF OOSTRA BA
Citation: Cb. Hoyng et al., AUTOSOMAL-DOMINANT CENTRAL AREOLAR CHOROIDAL DYSTROPHY CAUSED BY A MUTATION IN CODON-142 IN THE PERIPHERIN RDS GENE/, American journal of ophthalmology, 121(6), 1996, pp. 623-629
MENTAL STATUS OF FEMALES WITH AN FMR1 GENE FULL MUTATION
Authors: DEVRIES BBA WIEGERS AM SMITS APT MOHKAMSING S DUIVENVOORDEN HJ FRYNS JP CURFS LMG HALLEY DJJ OOSTRA BA VANDENOUWELAND AMW NIERMEIJER MF
Citation: Bba. Devries et al., MENTAL STATUS OF FEMALES WITH AN FMR1 GENE FULL MUTATION, American journal of human genetics, 58(5), 1996, pp. 1025-1032
THE GENETIC BACKGROUND OF CRANIOSYNOSTOSIS SYNDROMES
Authors: HEUTINK P VERMEIJKEERS C OOSTRA BA
Citation: P. Heutink et al., THE GENETIC BACKGROUND OF CRANIOSYNOSTOSIS SYNDROMES, European journal of human genetics, 3(5), 1995, pp. 312-323
Risultati: 1-25 | 26-50 | 51-75 | 76-98