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Results: 1-20 |
Results: 20
ASSOCIATION OF MISSENSE AND 5'-SPLICE-SITE MUTATIONS IN TAU WITH THE INHERITED DEMENTIA FTDP-17
Authors: HUTTON M LENDON CL RIZZU P BAKER M FROELICH S HOULDEN H PICKERINGBROWN S CHAKRAVERTY S ISAACS A GROVER A HACKETT J ADAMSON J LINCOLN S DICKSON D DAVIES P PETERSEN RC STEVENS M DEGRAAFF E WAUTERS E VANBAREN J HILLEBRAND M JOOSSE M KWON JM NOWOTNY P CHE LK NORTON J MORRIS JC REED LA TROJANOWSKI J BASUN H LANNFELT L NEYSTAT M FAHN S DARK F TANNENBERG T DODD PR HAYWARD N KWOK JBJ SCHOFIELD PR ANDREADIS A SNOWDEN J CRAUFURD D NEARY D OWEN F OOSTRA BA HARDY J GOATE A VANSWIETEN J MANN D LYNCH T HEUTINK P
Citation: M. Hutton et al., ASSOCIATION OF MISSENSE AND 5'-SPLICE-SITE MUTATIONS IN TAU WITH THE INHERITED DEMENTIA FTDP-17, Nature, 393(6686), 1998, pp. 702-705
CHARACTERIZATION OF THE FULL FRAGILE-X-SYNDROME MUTATION IN FETAL GAMETES
Authors: MALTER HE IBER JC WILLEMSEN R DEGRAAFF E TARLETON JC LEISTI J WARREN ST OOSTRA BA
Citation: He. Malter et al., CHARACTERIZATION OF THE FULL FRAGILE-X-SYNDROME MUTATION IN FETAL GAMETES, Nature genetics, 15(2), 1997, pp. 165-169
FMR1 PREMUTATION ALLELE (CGG)(81) IS STABLE IN MICE
Authors: BONTEKOE CJM DEGRAAFF E NIEUWENHUIZEN IM WILLEMSEN R OOSTRA BA
Citation: Cjm. Bontekoe et al., FMR1 PREMUTATION ALLELE (CGG)(81) IS STABLE IN MICE, European journal of human genetics, 5(5), 1997, pp. 293-298
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
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
CHARACTERIZATION OF FMR1 PROTEINS ISOLATED FROM DIFFERENT TISSUES
Authors: VERHEIJ C DEGRAAFF E BAKKER CE WILLEMSEN R WILLEMS PJ MEIJER N GALJAARD H REUSER AJJ OOSTRA BA HOOGEVEEN AT
Citation: C. Verheij et al., CHARACTERIZATION OF FMR1 PROTEINS ISOLATED FROM DIFFERENT TISSUES, Human molecular genetics, 4(5), 1995, pp. 895-901
HOTSPOT FOR DELETIONS IN THE CGG REPEAT REGION OF FMR1 IN FRAGILE-X PATIENTS
Authors: DEGRAAFF E ROUILLARD P WILLEMS PJ SMITS APT ROUSSEAU F OOSTRA BA
Citation: E. Degraaff et al., HOTSPOT FOR DELETIONS IN THE CGG REPEAT REGION OF FMR1 IN FRAGILE-X PATIENTS, Human molecular genetics, 4(1), 1995, pp. 45-49
INSTABILITY OF THE CGG REPEAT AND EXPRESSION OF FMR1 PROTEIN IN A MALE-PATIENT WITH A LUNG-TUMOR
Authors: BAKKER C DEGRAAFF E ZHONG N WILLEMSEN R OOSTRA B
Citation: C. Bakker et al., INSTABILITY OF THE CGG REPEAT AND EXPRESSION OF FMR1 PROTEIN IN A MALE-PATIENT WITH A LUNG-TUMOR, American journal of human genetics, 57(4), 1995, pp. 1359-1359
INSTABILITY OF THE CGG REPEAT AND EXPRESSION OF THE FMR1 PROTEIN IN AMALE FRAGILE-X PATIENT WITH A LUNG-TUMOR
Authors: DEGRAAFF E WILLEMSEN R ZHONG N DEDIESMULDERS CEM BROWN WT FRELING G OOSTRA B
Citation: E. Degraaff et al., INSTABILITY OF THE CGG REPEAT AND EXPRESSION OF THE FMR1 PROTEIN IN AMALE FRAGILE-X PATIENT WITH A LUNG-TUMOR, American journal of human genetics, 57(3), 1995, pp. 609-618
A DELETION OF 1.6 KB PROXIMAL TO THE CGG REPEAT OF THE FMR1 GENE CAUSES THE CLINICAL PHENOTYPE OF THE FRAGILE X SYNDROME
Authors: MEIJER H DEGRAAFF E MERCKX DML JONGBLOED RJE DEDIESMULDERS CEM ENGELEN JJM FRYNS JP CURFS PMG OOSTRA BA
Citation: H. Meijer et al., A DELETION OF 1.6 KB PROXIMAL TO THE CGG REPEAT OF THE FMR1 GENE CAUSES THE CLINICAL PHENOTYPE OF THE FRAGILE X SYNDROME, Human molecular genetics, 3(4), 1994, pp. 615-620
THE EFFECT OF A SINGLE-BASE PAIR DELETION (DELTA-T525) AND A C1634T MISSENSE MUTATION (PRO545LEU) ON THE EXPRESSION OF LYSOSOMAL ALPHA-GLUCOSIDASE IN PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE-II
Authors: HERMANS MMP DEGRAAFF E KROOS MA MOHKAMSING S EUSSEN BJ JOOSSE M WILLEMSEN R KLEIJER WJ OOSTRA BA REUSER AJJ
Citation: Mmp. Hermans et al., THE EFFECT OF A SINGLE-BASE PAIR DELETION (DELTA-T525) AND A C1634T MISSENSE MUTATION (PRO545LEU) ON THE EXPRESSION OF LYSOSOMAL ALPHA-GLUCOSIDASE IN PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE-II, Human molecular genetics, 3(12), 1994, pp. 2213-2218
NO APPARENT INVOLVEMENT OF THE FMR1 GENE IN 5 PATIENTS WITH PHENOTYPIC MANIFESTATIONS OF THE FRAGILE-X-SYNDROME
Authors: CHIURAZZI P DEGRAAFF E NG J VERKERK AJMH WOLFSON S FISCH GS KOZAK L NERI G OOSTRA BA
Citation: P. Chiurazzi et al., NO APPARENT INVOLVEMENT OF THE FMR1 GENE IN 5 PATIENTS WITH PHENOTYPIC MANIFESTATIONS OF THE FRAGILE-X-SYNDROME, American journal of medical genetics, 51(4), 1994, pp. 309-314
DNA DIAGNOSIS OF THE FRAGILE-X-SYNDROME IN A SERIES OF 236 MENTALLY-RETARDED SUBJECTS AND EVIDENCE FOR A REVERSAL OF MUTATION IN THE FMR-1 GENE
Authors: VANDENOUWELAND AMW DEVRIES BBA BAKKER PLG DEELEN WH DEGRAAFF E VANHEMEL JO OOSTRA BA NIERMEIJER MF HALLEY DJJ
Citation: Amw. Vandenouweland et al., DNA DIAGNOSIS OF THE FRAGILE-X-SYNDROME IN A SERIES OF 236 MENTALLY-RETARDED SUBJECTS AND EVIDENCE FOR A REVERSAL OF MUTATION IN THE FMR-1 GENE, American journal of medical genetics, 51(4), 1994, pp. 482-485
SEGREGATION OF FRAXE IN A LARGE FAMILY - CLINICAL, PSYCHOMETRIC, CYTOGENETIC, AND MOLECULAR-DATA
Authors: HAMEL BCJ SMITS APT DEGRAAFF E SMEETS DFCM SCHOUTE F EUSSEN BHJ KNIGHT SJL DAVIES KE ASSMANHULSMANS CFCH OOSTRA BA
Citation: Bcj. Hamel et al., SEGREGATION OF FRAXE IN A LARGE FAMILY - CLINICAL, PSYCHOMETRIC, CYTOGENETIC, AND MOLECULAR-DATA, American journal of human genetics, 55(5), 1994, pp. 923-931
THE FULL MUTATION IN THE FMR-1 GENE OF MALE FRAGILE-X PATIENTS IS ABSENT IN THEIR SPERM
Authors: REYNIERS E VITS L DEBOULLE K VANROY B VANVELZEN D DEGRAAFF E VERKERK AJMH JORENS HZJ DARBY JK OOSTRA B WILLEMS PJ
Citation: E. Reyniers et al., THE FULL MUTATION IN THE FMR-1 GENE OF MALE FRAGILE-X PATIENTS IS ABSENT IN THEIR SPERM, Nature genetics, 4(2), 1993, pp. 143-146
2 MUTATIONS AFFECTING THE TRANSPORT AND MATURATION OF LYSOSOMAL ALPHA-GLUCOSIDASE IN AN ADULT CASE OF GLYCOGEN-STORAGE-DISEASE TYPE-II
Authors: HERMANS MMP KROOS MA DEGRAAFF E OOSTRA BA REUSER AJJ
Citation: Mmp. Hermans et al., 2 MUTATIONS AFFECTING THE TRANSPORT AND MATURATION OF LYSOSOMAL ALPHA-GLUCOSIDASE IN AN ADULT CASE OF GLYCOGEN-STORAGE-DISEASE TYPE-II, Human mutation, 2(4), 1993, pp. 268-273
ALTERNATIVE SPLICING IN THE FRAGILE X-GENE FMR1 (VOL 2, PG 399, 1993)
Authors: VERKERK AJMH DEGRAAFF E DEBOULLE K EICHLER EE KONECKI DS REYNIERS E MANCA A POUSTKA A WILLEMS PJ NELSON DL OOSTRA BA
Citation: Ajmh. Verkerk et al., ALTERNATIVE SPLICING IN THE FRAGILE X-GENE FMR1 (VOL 2, PG 399, 1993), Human molecular genetics, 2(8), 1993, pp. 1348-1348
DINUCLEOTIDE REPEAT POLYMORPHISM AT D11S994 LOCUS
Authors: BONTEKOE CJM DEGRAAFF E BREEDVELD GJ OOSTRA BA HEUTINK P
Citation: Cjm. Bontekoe et al., DINUCLEOTIDE REPEAT POLYMORPHISM AT D11S994 LOCUS, Human molecular genetics, 2(10), 1993, pp. 1747-1747
CHARACTERIZATION AND LOCALIZATION OF THE FMR-1 GENE-PRODUCT ASSOCIATED WITH FRAGILE-X SYNDROME
Authors: VERHEIJ C BAKKER CE DEGRAAFF E KEULEMANS J WILLEMSEN R VERKERK AJMH GALJAARD H REUSER AJJ HOOGEVEEN AT OOSTRA BA
Citation: C. Verheij et al., CHARACTERIZATION AND LOCALIZATION OF THE FMR-1 GENE-PRODUCT ASSOCIATED WITH FRAGILE-X SYNDROME, Nature, 363(6431), 1993, pp. 722-724
IDENTIFICATION AND LOCALIZATION OF THE FMR-1 PROTEIN PRODUCT
Authors: VERHEIJ C HOOGEVEEN AT VERKERK AJMH DEGRAAFF E BAKKER C REUSER AJJ OOSTRA BA
Citation: C. Verheij et al., IDENTIFICATION AND LOCALIZATION OF THE FMR-1 PROTEIN PRODUCT, American journal of human genetics, 53(3), 1993, pp. 739-739
Risultati: 1-20 |