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Results: 1-25 | 26-42
Results: 1-25/42
EXON-6 SKIPPING IN THE FANCONI-ANEMIA-C GENE ASSOCIATED WITH A NONSENSE MISSENSE MUTATION (775C-]T) IN EXON-5 - THE FIRST EXAMPLE OF A NONSENSE MUTATION IN ONE EXON CAUSING SKIPPING OF ANOTHER DOWNSTREAM/
Authors: LOTENFOE JR KRUYT FAE ZWEEKHORST MBM PALS G GIBSON RA MATHEW CG JOENJE H ARWERT F
Citation: Jr. Lotenfoe et al., EXON-6 SKIPPING IN THE FANCONI-ANEMIA-C GENE ASSOCIATED WITH A NONSENSE MISSENSE MUTATION (775C-]T) IN EXON-5 - THE FIRST EXAMPLE OF A NONSENSE MUTATION IN ONE EXON CAUSING SKIPPING OF ANOTHER DOWNSTREAM/, Human mutation, 1998, pp. 25-27
CORRELATION OF SMNT AND SMNC GENE COPY NUMBER WITH AGE-OF-ONSET AND SURVIVAL IN SPINAL MUSCULAR-ATROPHY
Authors: TAYLOR JE THOMAS NH LEWIS CM ABBS SJ RODRIGUES NR DAVIES KE MATHEW CG
Citation: Je. Taylor et al., CORRELATION OF SMNT AND SMNC GENE COPY NUMBER WITH AGE-OF-ONSET AND SURVIVAL IN SPINAL MUSCULAR-ATROPHY, European journal of human genetics, 6(5), 1998, pp. 467-474
CHARACTERIZATION AND SCREENING FOR MUTATIONS OF THE GROWTH-ARREST-SPECIFIC-11 (GAS11) AND C16ORF3 GENES AT 16Q24.3 IN BREAST-CANCER
Authors: WHITMORE SA SETTASATIAN C CRAWFORD J LOWER KM MCCALLUM B SESHADRI R CORNELISSE GJ MOERLAND EW CLETONJANSEN AM TIPPING AJ MATHEW CG SAVNIO M SAVOIA A VERLANDER P AUERBACH AD VANBERKEL C PRONK JC DOGGETT NA CALLEN DF
Citation: Sa. Whitmore et al., CHARACTERIZATION AND SCREENING FOR MUTATIONS OF THE GROWTH-ARREST-SPECIFIC-11 (GAS11) AND C16ORF3 GENES AT 16Q24.3 IN BREAST-CANCER, Genomics (San Diego, Calif.), 52(3), 1998, pp. 325-331
CONSTRUCTION OF A HIGH-RESOLUTION PHYSICAL AND TRANSCRIPTION MAP OF CHROMOSOME 16Q124.3 - A REGION OF FREQUENT LOSS OF HETEROZYGOSITY IN SPORADIC BREAST-CANCER
Authors: WHITMORE SA CRAWFORD J APOSTOLOU S EYRE H BAKER E LOWER KM SETTASATIAN C GOLDUP S SESHADRI R GIBSON RA MATHEW CG CLETONJANSEN AM SAVOIA A PRONK JC AUERBACH AD DOGGETT NA SUTHERLAND GR CALLEN DF
Citation: Sa. Whitmore et al., CONSTRUCTION OF A HIGH-RESOLUTION PHYSICAL AND TRANSCRIPTION MAP OF CHROMOSOME 16Q124.3 - A REGION OF FREQUENT LOSS OF HETEROZYGOSITY IN SPORADIC BREAST-CANCER, Genomics, 50(1), 1998, pp. 1-8
EVIDENCE OF LINKAGE OF THE INFLAMMATORY BOWEL-DISEASE SUSCEPTIBILITY LOCUS ON CHROMOSOME-16 (IBD1) TO ULCERATIVE-COLITIS
Authors: MIRZA MM LEE J TEARE D HUGOT JP LAURENTPUIG P COLOMBEL JF HODGSON SV THOMAS G EASTON DF LENNARDJONES JE MATHEW CG
Citation: Mm. Mirza et al., EVIDENCE OF LINKAGE OF THE INFLAMMATORY BOWEL-DISEASE SUSCEPTIBILITY LOCUS ON CHROMOSOME-16 (IBD1) TO ULCERATIVE-COLITIS, Journal of Medical Genetics, 35(3), 1998, pp. 218-221
SOMATIC MOSAICISM IN FANCONI-ANEMIA - MOLECULAR-BASIS AND CLINICAL-SIGNIFICANCE
Authors: LOTENFOE JR KWEE ML ROOIMANS MA OOSTRA AB VEERMAN AJP VANWEEL M PAULI RM SHAHIDI NT DOKAL I ROBERTS I ALTAY C GLUCKMAN E GIBSON RA MATHEW CG ARWERT F JOENJE H
Citation: Jr. Lotenfoe et al., SOMATIC MOSAICISM IN FANCONI-ANEMIA - MOLECULAR-BASIS AND CLINICAL-SIGNIFICANCE, European journal of human genetics, 5(3), 1997, pp. 137-148
THE GENOMIC ORGANIZATION OF THE FANCONI-ANEMIA GROUP-A (FAA) GENE
Authors: IANZANO L DAPOLITO M CENTRA M SAVINO M LEVRAN O AUERBACH AD CLETONJANSEN AM DOGGETT NA PRONK JC TIPPING AJ GIBSON RA MATHEW CG WHITMORE SA APOSTOLOU S CALLEN DF ZELANTE L SAVOIA A
Citation: L. Ianzano et al., THE GENOMIC ORGANIZATION OF THE FANCONI-ANEMIA GROUP-A (FAA) GENE, Genomics, 41(3), 1997, pp. 309-314
CLINICAL, CYTOGENETIC, AND MOLECULAR ANALYSIS OF 3 FAMILIES WITH FRAXE
Authors: BARNICOAT AJ WANG Q TURK J GREEN E MATHEW CG FLYNN G BUCKLE V HIRST M DAVIES K BOBROW M
Citation: Aj. Barnicoat et al., CLINICAL, CYTOGENETIC, AND MOLECULAR ANALYSIS OF 3 FAMILIES WITH FRAXE, Journal of Medical Genetics, 34(1), 1997, pp. 13-17
PRENATAL-DIAGNOSIS FOR AUTOSOMAL RECESSIVE CHILDHOOD-ONSET SPINAL MUSCULAR-ATROPHY - THE RESULTS OF 103 TESTS
Authors: TAYLOR J ROSS S ABBS S MATHEW CG
Citation: J. Taylor et al., PRENATAL-DIAGNOSIS FOR AUTOSOMAL RECESSIVE CHILDHOOD-ONSET SPINAL MUSCULAR-ATROPHY - THE RESULTS OF 103 TESTS, Journal of Medical Genetics, 34, 1997, pp. 408-408
LINKAGE STUDY OF CHROMOSOME-21 AND THE DOWNS DEPENDENT REGION IN THE GENETIC ETIOLOGY OF CELIAC-DISEASE
Authors: BRETT PM YIANNAKOU JY CURTIS D MATHEW CG ROSENBRONSON S CICLITIRA PJ
Citation: Pm. Brett et al., LINKAGE STUDY OF CHROMOSOME-21 AND THE DOWNS DEPENDENT REGION IN THE GENETIC ETIOLOGY OF CELIAC-DISEASE, Gastroenterology, 112(4), 1997, pp. 350-350
POSITIONAL CLONING OF THE FANCONI-ANEMIA GROUP-A GENE
Authors: APOSTOLOU S WHITMORE SA CRAWFORD J LENNON G SUTHERLAND GR CALLEN DF IANZANO L SAVINO M DAPOLITO M NOTARANGELO A MEMEO E PIEMONTESE MR ZELANTE L SAVOIA A GIBSON RA TIPPING AJ MORGAN NV HASSOCK S JANSEN S DERAVEL TJ VANBERKEL C PRONK JC EASTON DF MATHEW CG LEVRAN O VERLANDER PC BATISH SD ERLICH T AUERBACH AD CLETONJANSEN AM MOERLAND EW CORNELISSE CJ DOGGETT NA DEAVEN LL MOYZIS RK
Citation: S. Apostolou et al., POSITIONAL CLONING OF THE FANCONI-ANEMIA GROUP-A GENE, Nature genetics, 14(3), 1996, pp. 324-328
NOVEL MUTATIONS AND POLYMORPHISMS IN THE FANCONI-ANEMIA GROUP C GENE
Authors: GIBSON RA MORGAN NV GOLDSTEIN LH PEARSON IC KESTERTON IP FOOT NJ JANSEN S HAVENGA C PEARSON T DERAVEL TJ COHN RJ MARQUES IM DOKAL I ROBERTS I MARSH J BALL S MILNER RD LLERENA JC SAMOCHATOVA E MOHAN SP VASUDEVAN P BIRJANDI F HAJIANPOUR A MURERORLANDO M MATHEW CG
Citation: Ra. Gibson et al., NOVEL MUTATIONS AND POLYMORPHISMS IN THE FANCONI-ANEMIA GROUP C GENE, Human mutation, 8(2), 1996, pp. 140-148
SEQUENCE VARIANTS OF THE ESTROGEN-RECEPTOR (ER) GENE FOUND IN BREAST-CANCER PATIENTS WITH ER NEGATIVE AND PROGESTERONE-RECEPTOR POSITIVE TUMORS
Authors: IWASE H GREENMAN JM BARNES DM HODGSON S BOBROW L MATHEW CG
Citation: H. Iwase et al., SEQUENCE VARIANTS OF THE ESTROGEN-RECEPTOR (ER) GENE FOUND IN BREAST-CANCER PATIENTS WITH ER NEGATIVE AND PROGESTERONE-RECEPTOR POSITIVE TUMORS, Cancer letters, 108(2), 1996, pp. 179-184
LOCALIZATION OF THE FANCONI-ANEMIA COMPLEMENTATION GROUP-A GENE TO CHROMOSOME 16Q24.3
Authors: GIBSON RA PRONK JC SAVOIA A MORGAN NV WIJKER M HASSOCK S VETRIE D OLAVESEN M KENDALL E FAURE S WEISSENBACH J DOGGETT NA JOENJE H ARWERT F MATHEW CG
Citation: Ra. Gibson et al., LOCALIZATION OF THE FANCONI-ANEMIA COMPLEMENTATION GROUP-A GENE TO CHROMOSOME 16Q24.3, Cytogenetics and cell genetics, 72(4), 1996, pp. 11-11
HLA AND INFLAMMATORY BOWEL-DISEASE
Authors: MATHEW CG EASTON DF LENNARDJONES JE
Citation: Cg. Mathew et al., HLA AND INFLAMMATORY BOWEL-DISEASE, Lancet, 348(9019), 1996, pp. 68-68
BREAST-CANCER AND BRCA1 MUTATIONS
Authors: MATHEW CG SOLOMON E HODGSON SV
Citation: Cg. Mathew et al., BREAST-CANCER AND BRCA1 MUTATIONS, The New England journal of medicine, 334(18), 1996, pp. 1198-1198
MAPPING OF A SUSCEPTIBILITY LOCUS FOR CROHNS-DISEASE ON CHROMOSOME-16
Authors: HUGOT JP LAURENTPUIG P GOWERROUSSEAU C OLSON JM LEE JC BEAUGERIE L NAOM I DUPAS JL VANGOSSUM A ORHOLM M BONAITIPELLIE C WEISSENBACH J MATHEW CG LENNARDJONES JE CORTOT A COLOMBEL JF THOMAS G
Citation: Jp. Hugot et al., MAPPING OF A SUSCEPTIBILITY LOCUS FOR CROHNS-DISEASE ON CHROMOSOME-16, Nature, 379(6568), 1996, pp. 821-823
ACCURATE DIAGNOSIS OF CARRIERS OF DELETIONS AND DUPLICATIONS IN DUCHENNE BECKER MUSCULAR-DYSTROPHY BY FLUORESCENT DOSAGE ANALYSIS/
Authors: YAU SC BOBROW M MATHEW CG ABBS SJ
Citation: Sc. Yau et al., ACCURATE DIAGNOSIS OF CARRIERS OF DELETIONS AND DUPLICATIONS IN DUCHENNE BECKER MUSCULAR-DYSTROPHY BY FLUORESCENT DOSAGE ANALYSIS/, Journal of Medical Genetics, 33(7), 1996, pp. 550-558
GENETIC-LINKAGE STUDY OF THE ROLE OF THE T-CELL RECEPTOR GENES IN CELIAC-DISEASE
Authors: YIANNAKOU JY BRETT PM CURTIS D MATHEW CG ROSENBRONSON S CICLITIRA PJ
Citation: Jy. Yiannakou et al., GENETIC-LINKAGE STUDY OF THE ROLE OF THE T-CELL RECEPTOR GENES IN CELIAC-DISEASE, Gastroenterology, 110(4), 1996, pp. 1050-1050
FANCONIS ANEMIA PRESENTING AS ACUTE MYELOID-LEUKEMIA IN ADULTHOOD
Authors: CAVENAGH JD RICHARDSON DS GIBSON RA MATHEW CG NEWLAND AC
Citation: Jd. Cavenagh et al., FANCONIS ANEMIA PRESENTING AS ACUTE MYELOID-LEUKEMIA IN ADULTHOOD, British Journal of Haematology, 94(1), 1996, pp. 126-128
POSITIVE DIEPOXYBUTANE TEST IN ONLY ONE OF 2 BROTHERS FOUND TO BE COMPOUND HETEROZYGOTES FOR FANCONI ANEMIA COMPLEMENTATION GROUP-C MUTATIONS
Authors: DOKAL I CHASE A MORGAN NV COULTHARD S HALL G MATHEW CG
Citation: I. Dokal et al., POSITIVE DIEPOXYBUTANE TEST IN ONLY ONE OF 2 BROTHERS FOUND TO BE COMPOUND HETEROZYGOTES FOR FANCONI ANEMIA COMPLEMENTATION GROUP-C MUTATIONS, British Journal of Haematology, 93(4), 1996, pp. 813-816
ANALYSIS OF THE CONTRIBUTION OF HLA GENES TO GENETIC PREDISPOSITION IN INFLAMMATORY BOWEL-DISEASE
Authors: NAOM I LEE J FORD D BOWMAN SJ LANCHBURY JS HARIS I HODGSON SV EASTON D LENNARDLONES J MATHEW CG
Citation: I. Naom et al., ANALYSIS OF THE CONTRIBUTION OF HLA GENES TO GENETIC PREDISPOSITION IN INFLAMMATORY BOWEL-DISEASE, American journal of human genetics, 59(1), 1996, pp. 226-233
LOCALIZATION OF THE FANCONI-ANEMIA COMPLEMENTATION GROUP-A GENE TO CHROMOSOME 16Q24.3
Authors: PRONK JC GIBSON RA SAVOIA A WIJKER M MORGAN NV MELCHIONDA S FORD D TEMTAMY S ORTEGA JJ JANSEN S HAVENGA C COHN RJ DERAVEL TJ ROBERTS I WESTERVELD A EASTON DF JOENJE H MATHEW CG ARWERT F
Citation: Jc. Pronk et al., LOCALIZATION OF THE FANCONI-ANEMIA COMPLEMENTATION GROUP-A GENE TO CHROMOSOME 16Q24.3, Nature genetics, 11(3), 1995, pp. 338-340
LINKAGE OF THE GENE FOR CYSTINOSIS TO MARKERS ON THE SHORT ARM OF CHROMOSOME-17
Authors: MCDOWELL GA GAHL WA STEPHENSON LA SCHNEIDER JA WEISSENBACH J POLYMEROPOULOS MH TOWN MM VANTHOFF W FARRALL M MATHEW CG
Citation: Ga. Mcdowell et al., LINKAGE OF THE GENE FOR CYSTINOSIS TO MARKERS ON THE SHORT ARM OF CHROMOSOME-17, Nature genetics, 10(2), 1995, pp. 246-248
A VARIANT OF WISKOTT-ALDRICH SYNDROME WITH NEPHROPATHY IS LINKED TO DXS255
Authors: BENNETT CP BARNICOAT AJ COTTER F WANG Q MATHEW CG
Citation: Cp. Bennett et al., A VARIANT OF WISKOTT-ALDRICH SYNDROME WITH NEPHROPATHY IS LINKED TO DXS255, Journal of Medical Genetics, 32(9), 1995, pp. 757-758
Risultati: 1-25 | 26-42