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Results: 1-23 |
Results: 23
CONTRIBUTION OF DNA-SEQUENCE AND CAG SIZE TO MUTATION FREQUENCIES OF INTERMEDIATE ALLELES FOR HUNTINGTON DISEASE - EVIDENCE FROM SINGLE SPERM ANALYSES
Authors: CHONG SS ALMQVIST E TELENIUS H LATRAY L NICHOL K BOURDELATPARKS B GOLDBERG YP HADDAD BR RICHARDS F SILLENCE D GREENBERG CR IVES E VANDENENGH G HUGHES MR HAYDEN MR
Citation: Ss. Chong et al., CONTRIBUTION OF DNA-SEQUENCE AND CAG SIZE TO MUTATION FREQUENCIES OF INTERMEDIATE ALLELES FOR HUNTINGTON DISEASE - EVIDENCE FROM SINGLE SPERM ANALYSES, Human molecular genetics, 6(2), 1997, pp. 301-309
REACTIONS TO PREDICTIVE TESTING IN HUNTINGTON DISEASE - CASE-REPORTS OF COPING WITH A NEW GENETIC STATUS
Authors: WAHLIN TBR LUNDIN A BACKMAN L ALMQVIST E HAEGERMARK A WINBLAD B ANVRET M
Citation: Tbr. Wahlin et al., REACTIONS TO PREDICTIVE TESTING IN HUNTINGTON DISEASE - CASE-REPORTS OF COPING WITH A NEW GENETIC STATUS, American journal of medical genetics, 73(3), 1997, pp. 356-365
DIFFERENT MUTATION-RATES OF SIMILAR SIZED CAG TRACTS OF AFFECTED HUNTINGTON-DISEASE CHROMOSOMES BY SINGLE SPERM ANALYSIS
Authors: ALMQVIST E CHONG SS NICHOL K TELENIUS H LATRAY L BOURDELATPARKS B HADDAD BR SQUITIERI F ANVRET M VANDENENGH G HAYDEN M
Citation: E. Almqvist et al., DIFFERENT MUTATION-RATES OF SIMILAR SIZED CAG TRACTS OF AFFECTED HUNTINGTON-DISEASE CHROMOSOMES BY SINGLE SPERM ANALYSIS, American journal of human genetics, 61(4), 1997, pp. 1768-1768
RISK REVERSALS IN PREDICTIVE TESTING FOR HUNTINGTON-DISEASE
Authors: ALMQVIST E ADAM S BLOCH M FULLER A WELCH P EISENBERG D WHELAN D MACGREGOR D MESCHINO W HAYDEN MR
Citation: E. Almqvist et al., RISK REVERSALS IN PREDICTIVE TESTING FOR HUNTINGTON-DISEASE, American journal of human genetics, 61(4), 1997, pp. 945-952
THE LIKELIHOOD OF BEING AFFECTED WITH HUNTINGTON-DISEASE BY A PARTICULAR AGE, FOR A SPECIFIC CAG SIZE
Authors: BRINKMAN RR MEZEI MM THEILMANN J ALMQVIST E HAYDEN MR
Citation: Rr. Brinkman et al., THE LIKELIHOOD OF BEING AFFECTED WITH HUNTINGTON-DISEASE BY A PARTICULAR AGE, FOR A SPECIFIC CAG SIZE, American journal of human genetics, 60(5), 1997, pp. 1202-1210
DIFFERENT MECHANISMS UNDERLIE DNA INSTABILITY IN HUNTINGTON DISEASE AND COLORECTAL-CANCER
Authors: GOELLNER GM TESTER D THIBODEAU S ALMQVIST E GOLDBERG YP HAYDEN MR MCMURRAY CT
Citation: Gm. Goellner et al., DIFFERENT MECHANISMS UNDERLIE DNA INSTABILITY IN HUNTINGTON DISEASE AND COLORECTAL-CANCER, American journal of human genetics, 60(4), 1997, pp. 879-890
PHENOTYPIC CHARACTERIZATION OF INDIVIDUALS WITH 30-40 CAG REPEATS IN THE HUNTINGTON DISEASE (HD) GENE REVEALS HD CASES WITH 36 REPEATS AND APPARENTLY NORMAL ELDERLY INDIVIDUALS WITH 36-39 REPEATS
Authors: RUBINSZTEIN DC LEGGO J COLES R ALMQVIST E BIANCALANA V CASSIMAN JJ CHOTAI K CONNARTY M CRAUFURD D CURTIS A CURTIS D DAVIDSON MJ DIFFER AM DODE C DODGE A FRONTALI M RANEN NG STINE OC SHERR M ABBOTT MH FRANZ ML GRAHAM CA HARPER PS HEDREEN JC JACKSON A KAPLAN JC LOSEKOOT M MACMILLAN JC MORRISON P TROTTIER Y NOVELLETTO A SIMPSON SA THEILMANN J WHITTAKER JL FOLSTEIN SE ROSS CA HAYDEN MR
Citation: Dc. Rubinsztein et al., PHENOTYPIC CHARACTERIZATION OF INDIVIDUALS WITH 30-40 CAG REPEATS IN THE HUNTINGTON DISEASE (HD) GENE REVEALS HD CASES WITH 36 REPEATS AND APPARENTLY NORMAL ELDERLY INDIVIDUALS WITH 36-39 REPEATS, American journal of human genetics, 59(1), 1996, pp. 16-22
SOMATIC MOSAICISM IN SPERM IS ASSOCIATED WITH INTERGENERATIONAL (CAG)N CHANGES IN HUNTINGTON DISEASE (VOL 4, PG 189, 1995)
Authors: TELENIUS H ALMQVIST E KREMER B SPENCE N SQUITIERI F NICHOL K GRANDELL U STARR E BENJAMIN C CASTALDO I CALABRESE O ANVRET M GOLDBERG YP HAYDEN MR
Citation: H. Telenius et al., SOMATIC MOSAICISM IN SPERM IS ASSOCIATED WITH INTERGENERATIONAL (CAG)N CHANGES IN HUNTINGTON DISEASE (VOL 4, PG 189, 1995), Human molecular genetics, 4(5), 1995, pp. 974-974
SOMATIC MOSAICISM IN SPERM IS ASSOCIATED WITH INTERGENERATIONAL (CAG)(N) CHANGES IN HUNTINGTON DISEASE
Authors: TELENIUS H ALMQVIST E KREMER B SPENCE N SQUITIERI F NICHOL K GRANDELL U STARR E BENJAMIN C CASTALDO I CALABRESE O ANVRET M GOLDBERG YP HAYDEN MR
Citation: H. Telenius et al., SOMATIC MOSAICISM IN SPERM IS ASSOCIATED WITH INTERGENERATIONAL (CAG)(N) CHANGES IN HUNTINGTON DISEASE, Human molecular genetics, 4(2), 1995, pp. 189-195
ANCESTRAL DIFFERENCES IN THE DISTRIBUTION OF THE DELTA-2642 GLUTAMIC-ACID POLYMORPHISM IS ASSOCIATED WITH VARYING CAG REPEAT LENGTHS ON NORMAL CHROMOSOMES - INSIGHTS INTO THE GENETIC EVOLUTION OF HUNTINGTON DISEASE
Authors: ALMQVIST E SPENCE N NICHOL K ANDREW SE VESA J PELTONEN L ANVRET M GOTO J KANAZAWA I GOLDBERG YP HAYDEN MR
Citation: E. Almqvist et al., ANCESTRAL DIFFERENCES IN THE DISTRIBUTION OF THE DELTA-2642 GLUTAMIC-ACID POLYMORPHISM IS ASSOCIATED WITH VARYING CAG REPEAT LENGTHS ON NORMAL CHROMOSOMES - INSIGHTS INTO THE GENETIC EVOLUTION OF HUNTINGTON DISEASE, Human molecular genetics, 4(2), 1995, pp. 207-214
INCREASED INSTABILITY OF INTERMEDIATE ALLELES IN FAMILIES WITH SPORADIC HUNTINGTON DISEASE COMPARED TO SIMILAR SIZED INTERMEDIATE ALLELES IN THE GENERAL-POPULATION
Authors: GOLDBERG YP MCMURRAY CT ZEISLER J ALMQVIST E SILLENCE D RICHARDS F GACY AM BUCHANAN J TELENIUS H HAYDEN MR
Citation: Yp. Goldberg et al., INCREASED INSTABILITY OF INTERMEDIATE ALLELES IN FAMILIES WITH SPORADIC HUNTINGTON DISEASE COMPARED TO SIMILAR SIZED INTERMEDIATE ALLELES IN THE GENERAL-POPULATION, Human molecular genetics, 4(10), 1995, pp. 1911-1918
MECHANISMS UNDERLYING (CAG) EXPANDION IN HUNTINGTON DISEASE INCLUDE TISSUE-SPECIFIC AND CIS-ACTING FACTORS
Authors: TELENIUS H ALMQVIST E KREMER B SPENCE N NICHOL K SQUITIERI F THEILMANN J ANVRET M GOLDBERG YP HAYDEN MR
Citation: H. Telenius et al., MECHANISMS UNDERLYING (CAG) EXPANDION IN HUNTINGTON DISEASE INCLUDE TISSUE-SPECIFIC AND CIS-ACTING FACTORS, Journal of cellular biochemistry, 1995, pp. 107-107
INCREASED INSTABILITY OF INTERMEDIATE ALLELES IN FAMILIES WITH SPORADIC HUNTINGTON DISEASE COMPARED TO INTERMEDIATE ALLELES IN THE GENERAL-POPULATION - IMPLICATIONS FOR GENETIC-COUNSELING
Authors: GOLDBERG YP ZIESLER J ALMQVIST E SILLENCE D RICHARDS F BUCHANAN J TELENIUS H HAYDEN MR
Citation: Yp. Goldberg et al., INCREASED INSTABILITY OF INTERMEDIATE ALLELES IN FAMILIES WITH SPORADIC HUNTINGTON DISEASE COMPARED TO INTERMEDIATE ALLELES IN THE GENERAL-POPULATION - IMPLICATIONS FOR GENETIC-COUNSELING, American journal of human genetics, 57(4), 1995, pp. 136-136
FALSE NEGATIVES AND POSITIVES IN PREDICTIVE TESTING FOR HUNTINGTON DISEASE THE IMPORTANCE OF ACCURATE ASSESSMENT OF THE ADJACENT CCG REPEAT
Authors: ALMQVIST E GOLDBERG YP HAYDEN MR
Citation: E. Almqvist et al., FALSE NEGATIVES AND POSITIVES IN PREDICTIVE TESTING FOR HUNTINGTON DISEASE THE IMPORTANCE OF ACCURATE ASSESSMENT OF THE ADJACENT CCG REPEAT, American journal of human genetics, 57(4), 1995, pp. 139-139
PATIENT RIGHTS TO LABORATORY DATA - TRINEUCLEOTIDE REPEAT LENGTH IN HUNTINGTON DISEASE
Authors: ADAMS S ALMQVIST E BURGESS M HAYDEN M
Citation: S. Adams et al., PATIENT RIGHTS TO LABORATORY DATA - TRINEUCLEOTIDE REPEAT LENGTH IN HUNTINGTON DISEASE, American journal of human genetics, 57(4), 1995, pp. 1699-1699
SEX-DEPENDENT MECHANISMS FOR EXPANSIONS AND CONTRACTIONS OF THE CAG REPEAT ON AFFECTED HUNTINGTON DISEASE CHROMOSOMES
Authors: KREMER B ALMQVIST E THEILMANN J SPENCE N TELENIUS H GOLDBERG YP HAYDEN MR
Citation: B. Kremer et al., SEX-DEPENDENT MECHANISMS FOR EXPANSIONS AND CONTRACTIONS OF THE CAG REPEAT ON AFFECTED HUNTINGTON DISEASE CHROMOSOMES, American journal of human genetics, 57(2), 1995, pp. 343-350
DNA HAPLOTYPE ANALYSIS OF HUNTINGTON DISEASE REVEALS CLUES TO THE ORIGINS AND MECHANISMS OF CAG EXPANSION AND REASONS FOR GEOGRAPHIC VARIATIONS OF PREVALENCE
Authors: SQUITIERI F ANDREW SE GOLDBERG YP KREMER B SPENCE N ZEISLER J NICHOL K THEILMANN J GREENBERG J GOTO J KANAZAWA I VESA J PELTONEN L ALMQVIST E ANVRET M TELENIUS H LIN B NAPOLITANO G MORGAN K HAYDEN MR
Citation: F. Squitieri et al., DNA HAPLOTYPE ANALYSIS OF HUNTINGTON DISEASE REVEALS CLUES TO THE ORIGINS AND MECHANISMS OF CAG EXPANSION AND REASONS FOR GEOGRAPHIC VARIATIONS OF PREVALENCE, Human molecular genetics, 3(12), 1994, pp. 2103-2114
A COMPARISON OF MULTIPLEX AND SIMPLEX FAMILIES WITH ALZHEIMERS-DISEASE SENILE DEMENTIA OF ALZHEIMER-TYPE WITHIN A WELL-DEFINED POPULATION
Authors: ALAFUZOFF I ALMQVIST E ADOLFSSON R LAKE S WALLACE W GREENBERG DA WINBLAD B
Citation: I. Alafuzoff et al., A COMPARISON OF MULTIPLEX AND SIMPLEX FAMILIES WITH ALZHEIMERS-DISEASE SENILE DEMENTIA OF ALZHEIMER-TYPE WITHIN A WELL-DEFINED POPULATION, Journal of neural transmission. Parkinson's disease and dementia section, 7(1), 1994, pp. 61-72
GEOGRAPHICAL-DISTRIBUTION OF HAPLOTYPES IN SWEDISH FAMILIES WITH HUNTINGTONS-DISEASE
Authors: ALMQVIST E ANDREW S THEILMANN J GOLDBERG P ZEISLER J DRUGGE U GRANDELL U TAPPERPERSSON M WINBLAD B HAYDEN M ANVRET M
Citation: E. Almqvist et al., GEOGRAPHICAL-DISTRIBUTION OF HAPLOTYPES IN SWEDISH FAMILIES WITH HUNTINGTONS-DISEASE, Human genetics, 94(2), 1994, pp. 124-128
A WORLDWIDE STUDY OF THE HUNTINGTONS-DISEASE MUTATION - THE SENSITIVITY AND SPECIFICITY OF MEASURING CAG REPEATS
Authors: KREMER B GOLDBERG P ANDREW SE THEILMANN J TELENIUS H ZEISLER J SQUITIERI F LIN BY BASSETT A ALMQVIST E BIRD TD HAYDEN MR
Citation: B. Kremer et al., A WORLDWIDE STUDY OF THE HUNTINGTONS-DISEASE MUTATION - THE SENSITIVITY AND SPECIFICITY OF MEASURING CAG REPEATS, The New England journal of medicine, 330(20), 1994, pp. 1401-1406
MOLECULAR ANALYSIS OF JUVENILE HUNTINGTON DISEASE - THE MAJOR INFLUENCE ON (CAG)(N) REPEAT LENGTH IS THE SEX OF THE AFFECTED PARENT
Authors: TELENIUS H KREMER HPH THEILMANN J ANDREW SE ALMQVIST E ANVRET M GREENBERG C GREENBERG J LUCOTTE G SQUITIERI F STARR E GOLDBERG YP HAYDEN MR
Citation: H. Telenius et al., MOLECULAR ANALYSIS OF JUVENILE HUNTINGTON DISEASE - THE MAJOR INFLUENCE ON (CAG)(N) REPEAT LENGTH IS THE SEX OF THE AFFECTED PARENT, Human molecular genetics, 2(10), 1993, pp. 1535-1540
SCREENING OF AMYLOID PRECURSOR PROTEIN GENE MUTATION (APP717VAL-]ILE)IN SWEDISH FAMILIES WITH ALZHEIMERS-DISEASE
Authors: ALMQVIST E LAKE S AXELMAN K JOHANSSON K WINBLAD B
Citation: E. Almqvist et al., SCREENING OF AMYLOID PRECURSOR PROTEIN GENE MUTATION (APP717VAL-]ILE)IN SWEDISH FAMILIES WITH ALZHEIMERS-DISEASE, Journal of neural transmission. Parkinson's disease and dementia section, 6(2), 1993, pp. 151-156
DNA ANALYSIS OF DISTINCT POPULATIONS SUGGESTS MULTIPLE ORIGINS FOR THE MUTATION CAUSING HUNTINGTON DISEASE
Authors: ANDREW S THEILMANN J ALMQVIST E NORREMOLLE A LUCOTTE G ANVRET M SORENSEN SA TURPIN JC HAYDEN MR
Citation: S. Andrew et al., DNA ANALYSIS OF DISTINCT POPULATIONS SUGGESTS MULTIPLE ORIGINS FOR THE MUTATION CAUSING HUNTINGTON DISEASE, Clinical genetics, 43(6), 1993, pp. 286-294
Risultati: 1-23 |