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Results: 1-12 |
Results: 12
A FAMILY WITH ISOLATED HYPERPARATHYROIDISM SEGREGATING A MISSENSE MEN1 MUTATION AND SHOWING LOSS OF THE WILD-TYPE ALLELES IN THE PARATHYROID TUMORS
Authors: TEH BT ESAPA CT HOULSTON R GRANDELL U FARNEBO F NORDENSKJOLD M PEARCE CJ CARMICHAEL D LARSSON C HARRIS PE
Citation: Bt. Teh et al., A FAMILY WITH ISOLATED HYPERPARATHYROIDISM SEGREGATING A MISSENSE MEN1 MUTATION AND SHOWING LOSS OF THE WILD-TYPE ALLELES IN THE PARATHYROID TUMORS, American journal of human genetics, 63(5), 1998, pp. 1544-1549
VARIATION OF CTG-REPEAT NUMBER OF THE DMPK GENE IN MUSCLE-TISSUE
Authors: ANSVED T EDSTROM L GRANDELL U HEDBERG B ANVRET M
Citation: T. Ansved et al., VARIATION OF CTG-REPEAT NUMBER OF THE DMPK GENE IN MUSCLE-TISSUE, Neuromuscular disorders, 7(3), 1997, pp. 152-155
DIAGNOSIS OF THE PRADER-WILLI-SYNDROME BY PROVING THE ABSENCE OF THE UNMETHYLATED PW71 DNA FRAGMENT
Authors: LINDGREN AC GRANDELL U RITZEN EM ANVRET M
Citation: Ac. Lindgren et al., DIAGNOSIS OF THE PRADER-WILLI-SYNDROME BY PROVING THE ABSENCE OF THE UNMETHYLATED PW71 DNA FRAGMENT, Acta paediatrica, 85(2), 1996, pp. 195-198
MEIOTIC DRIVE AND MYOTONIC-DYSTROPHY - REPLY
Authors: CAREY N JOHNSON K NOKELAINEN P PELTONEN L SAVONTAUS ML JUVONEN V ANVRET M GRANDELL U CHOTAI K ROBERTSON E MIDDLETONPRICE H MALCOLM S
Citation: N. Carey et al., MEIOTIC DRIVE AND MYOTONIC-DYSTROPHY - REPLY, Nature genetics, 10(2), 1995, pp. 133-133
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
PARENTAL EXPOSURE TO HYDROCARBONS IN PRADER-WILLI-SYNDROME
Authors: AKEFELDT A ANVRET M GRANDELL U NORDLINDER R GILLBERG C
Citation: A. Akefeldt et al., PARENTAL EXPOSURE TO HYDROCARBONS IN PRADER-WILLI-SYNDROME, Developmental Medicine and Child Neurology, 37(12), 1995, pp. 1101-1109
MEIOTIC DRIVE AT THE MYOTONIC-DYSTROPHY LOCUS
Authors: CAREY N JOHNSON K NOKELAINEN P PELTONEN L SAVONTAUS ML JUVONEN V ANVRET M GRANDELL U CHOTAI K ROBERTSON E MIDDLETONPRICE H MALCOLM S
Citation: N. Carey et al., MEIOTIC DRIVE AT THE MYOTONIC-DYSTROPHY LOCUS, Nature genetics, 6(2), 1994, pp. 117-118
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
CHARACTERISTICS OF INTERGENERATIONAL CONTRACTIONS OF THE CTG REPEAT IN MYOTONIC-DYSTROPHY
Authors: ASHIZAWA T ANVRET M BAIGET M BARCELO JM BRUNNER H COBO AM DALLAPICCOLA B FENWICK RG GRANDELL U HARLEY H JUNIEN C KOCH MC KORNELUK RG LAVEDAN C MIKI T MULLEY JC DEMUNAIN AL NOVELLI G ROSES AD SELTZER WK SHAW DJ SMEETS H SUTHERLAND GR YAMAGATA H HARPER PS
Citation: T. Ashizawa et al., CHARACTERISTICS OF INTERGENERATIONAL CONTRACTIONS OF THE CTG REPEAT IN MYOTONIC-DYSTROPHY, American journal of human genetics, 54(3), 1994, pp. 414-423
LARGER EXPANSIONS OF THE CTG REPEAT IN MUSCLE COMPARED TO LYMPHOCYTESFROM PATIENTS WITH MYOTONIC-DYSTROPHY
Authors: ANVRET M AHLBERG G GRANDELL U HEDBERG B JOHNSON K EDSTROM L
Citation: M. Anvret et al., LARGER EXPANSIONS OF THE CTG REPEAT IN MUSCLE COMPARED TO LYMPHOCYTESFROM PATIENTS WITH MYOTONIC-DYSTROPHY, Human molecular genetics, 2(9), 1993, pp. 1397-1400
FREQUENCY OF 4 CYSTIC-FIBROSIS MUTATIONS IN A SWEDISH POPULATION
Authors: DAHL N GRANDELL U MARTINSSON T ALLEN M JOHANSSON L STOLPE L GYLLENSTEN U HJELTE L KOLLBERG H STRANDVIK B WAHLSTROM J ANVRET M
Citation: N. Dahl et al., FREQUENCY OF 4 CYSTIC-FIBROSIS MUTATIONS IN A SWEDISH POPULATION, Acta paediatrica, 82(6-7), 1993, pp. 609-609
Risultati: 1-12 |