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    1. Kenneson, A; Warren, ST
      The female and the fragile X reviewed

      SEMINARS IN REPRODUCTIVE MEDICINE
    2. Mallolas, J; Duran, M; Sanchez, A; Jimenez, D; Castellvi-Bel, S; Rife, M; Mila, M
      Implications of the FMR1 gene in menopause: study of 147 Spanish women

      MENOPAUSE-THE JOURNAL OF THE NORTH AMERICAN MENOPAUSE SOCIETY
    3. Bois, PRJ; Southgate, L; Jeffreys, AJ
      Length of uninterrupted repeats determines instability at the unstable mouse expanded simple tandem repeat family MMS10 derived from independent SINEB1 elements

      MAMMALIAN GENOME
    4. Bennetto, L; Pennington, BF; Porter, D; Taylor, AK; Hagerman, RJ
      Profile of cognitive functioning in women with the fragile X mutation

      NEUROPSYCHOLOGY
    5. Hundscheid, RDL; Braat, DDM; Kiemeney, LALM; Smits, APT; Thomas, CMG
      Increased serum FSH in female fragile X premutation carriers with either regular menstrual cycles or on oral contraceptives

      HUMAN REPRODUCTION
    6. Johnston, C; Eliez, S; Dyer-Friedman, J; Hessl, D; Glaser, B; Blasey, C; Taylor, A; Reiss, A
      Neurobehavioral phenotype in carriers of the fragile X premutation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    7. Sun, HT; Cohen, S; Kaufmann, WE
      Annexin-1 is abnormally expressed in fragile X syndrome: Two-dimensional electrophoresis study in lymphocytes

      AMERICAN JOURNAL OF MEDICAL GENETICS
    8. Hagerman, RJ; Leehey, M; Heinrichs, W; Tassone, F; Wilson, R; Hills, J; Grigsby, J; Gage, B; Hagerman, PJ
      Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X

      NEUROLOGY
    9. Soderstrom-Anttila, V; Foudila, T; Hovatta, O
      Oocyte donation in infertility treatment - a review

      ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA
    10. Murray, A
      Premature ovarian failure and the FMR1 gene

      SEMINARS IN REPRODUCTIVE MEDICINE
    11. Kallinen, J; Korhonen, K; Kortelainen, S; Heinonen, S; Ryynanen, M
      Pregnancy outcome in carriers of fragile X

      BRITISH JOURNAL OF OBSTETRICS AND GYNAECOLOGY
    12. Tzountzouris, J; Kennedy, D; Skuterud, M; Connolly-Wilson, M; Holden, JJA; Lin, CC; Mak-Tam, E; Somerville, MJ; Summers, AM; Allingham-Hawkins, DJ
      Apparently unstable normal FMR1 alleles in nine developmentally delayed patients: Implications for molecular diagnosis of the Fragile X syndrome

      GENETIC TESTING
    13. Murray, A; Ennis, S; MacSwiney, F; Webb, J; Morton, NE
      Reproductive and menstrual history of females with fragile X expansions

      EUROPEAN JOURNAL OF HUMAN GENETICS
    14. Davis, CJ; Davison, RM; Payne, NN; Rodeck, CH; Conway, GS
      Female sex preponderance for idiopathic familial premature ovarian failuresuggests an X chromosome defect

      HUMAN REPRODUCTION
    15. Marozzi, A; Vegetti, W; Manfredini, E; Tibiletti, MG; Testa, G; Crosignani, PG; Ginelli, E; Meneveri, R; Dalpra, L
      Association between idiopathic premature ovarian failure and fragile X premutation

      HUMAN REPRODUCTION
    16. Pesso, R; Berkenstadt, H; Cuckle, H; Gak, E; Peleg, L; Frydman, M; Barkai, G
      Screening for fragile X syndrome in women of reproductive age

      PRENATAL DIAGNOSIS
    17. Willemsen, R; Oostra, BA
      FMRP detection assay for the diagnosis of the fragile X syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    18. Sherman, SL
      Premature ovarian failure in the fragile X syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    19. Tassone, F; Hagerman, RJ; Chamberlain, WD; Hagerman, PJ
      Transcription of the FMR1 gene in individuals with fragile X syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    20. Tuncbilek, E; Alikasifoglu, M; Aktas, D; Duman, F; Yanik, H; Anar, B; Oostra, B; Willemsen, R
      Screening for the fragile X syndrome among mentally retarded males by hairroot analysis

      AMERICAN JOURNAL OF MEDICAL GENETICS
    21. Tassone, F; Hagerman, RJ; Loesch, DZ; Lachiewicz, A; Taylor, AK; Hagerman, PJ
      Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA

      AMERICAN JOURNAL OF MEDICAL GENETICS
    22. Larsen, LA; Armstrong, JSM; Gronskov, K; Hjalgrim, H; Macpherson, JN; Brondum-Nielsen, K; Hasholt, L; Norgaard-Pedersen, B; Vuust, J
      Haplotype and AGG-interspersion analysis of FMR1 (CGG)(n) alleles in the Danish population: Implications for multiple mutational pathways towards fragile X alleles

      AMERICAN JOURNAL OF MEDICAL GENETICS
    23. Tassone, F; Hagerman, RJ; Taylor, AK; Gane, LW; Godfrey, TE; Hagerman, PJ
      Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    24. Tzeng, CC; Cho, WC; Kuo, PL; Chen, RM
      Pilot fragile X screening in normal population of Taiwan

      DIAGNOSTIC MOLECULAR PATHOLOGY
    25. Ryynanen, M; Heinonen, S; Makkonen, M; Kajanoja, E; Mannermaa, A; Pertti, K
      Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies

      EUROPEAN JOURNAL OF HUMAN GENETICS
    26. Wildhagen, MF; van Os, TAM; Polder, JJ; ten Kate, LP; Habbema, JDF
      Efficacy of cascade testing for fragile X syndrome

      JOURNAL OF MEDICAL SCREENING
    27. Harris, SW; Hagerman, RJ
      Fragile X syndrome: new developments

      CURRENT OPINION IN PSYCHIATRY
    28. Murray, A; Webb, J; MacSwiney, F; Shipley, EL; Morton, NE; Conway, GS
      Serum concentrations of follicle stimulating hormone may predict prematureovarian failure in FRAXA premutation women

      HUMAN REPRODUCTION
    29. Sermon, K; Seneca, S; Vanderfaeillie, A; Lissens, W; Joris, H; Vandervorst, M; Van Steirteghem, A; Liebaers, I
      Preimplantation diagnosis for fragile X syndrome based on the detection ofthe non-expanded paternal and maternal CGG

      PRENATAL DIAGNOSIS
    30. Hacki, T; Heitmuller, S
      Development of the child's voice: premutation, mutation

      INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
    31. Delatycki, MB; Paris, DBBP; Gardner, RJM; Nicholson, GA; Nassif, N; Storey, E; MacMillan, JC; Collins, V; Williamson, R; Forrest, SM
      Clinical and genetic study of Friedreich ataxia in an Australian population

      AMERICAN JOURNAL OF MEDICAL GENETICS
    32. Tassone, F; Hagerman, RJ; Gane, LW; Taylor, AK
      Strong similarities of the FMR1 mutation in multiple tissues: Postmortem studies of a male with a full mutation and a male carrier of a premutation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    33. Holden, JJA; Percy, M; Allingham-Hawkins, D; Brown, WT; Chiurazzi, P; Fisch, G; Gane, L; Gunter, C; Hagerman, R; Jenkins, EC; Kooy, RF; Lubs, HA; Murray, A; Neri, G; Schwartz, C; Tranebjaerg, L; Villard, L; Willems, PJ
      Eighth International Workshop on the Fragile X Syndrome and X-linked Mental Retardation, August 16-22, 1997

      AMERICAN JOURNAL OF MEDICAL GENETICS
    34. Kaufmann, WE; Abrams, MT; Chen, WM; Reiss, AL
      Genotype, molecular phenotype, and cognitive phenotype: Correlations in fragile X syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    35. Linden, MG; Tassone, F; Gane, LW; Hills, JL; Hagerman, RJ; Taylor, AK
      Compound heterozygous female with fragile X syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    36. Allingham-Hawkins, SJ; Babul-Hirji, R; Chitayat, D; Holden, JJA; Yang, KT; Lee, C; Hudson, R; Gorwill, H; Nolin, SL; Glicksman, A; Jenkins, EC; Brown, WT; Howard-Peebles, PN; Becchi, C; Cummings, E; Fallon, L; Seitz, S; Black, SH; Vianna-Morgante, AM; Costa, SS; Otto, PA; Mingroni-Netto, RC; Murray, A; Webb, J; MacSwinney, F; Dennis, N; Jacobs, PA; Syrrou, M; Georgiou, I; Patsalis, PC; Uzielli, MLG; Guarducci, S; Lapi, E; Cecconi, A; Ricci, U
      Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study - Preliminary data

      AMERICAN JOURNAL OF MEDICAL GENETICS
    37. Abrams, MT; Kaufmann, WE; Rousseau, F; Oostra, BA; Wolozin, B; Taylor, CV; Lishaa, N; Morel, ML; Hoogeveen, A; Reiss, AL
      FMR1 gene expression in olfactory neuroblasts from two males with fragile X syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    38. Arrieta, I; Gil, A; Nunez, T; Telez, M; Martinez, B; Criado, B; Lostao, C
      Stability of the FMRI CGG repeat in a Basque sample

      HUMAN BIOLOGY
    39. Tassone, F; Longshore, J; Zunich, J; Steinbach, P; Salat, U; Taylor, AK
      Tissue-specific methylation differences in a fragile X premutation carrier

      CLINICAL GENETICS
    40. Wenstrom, KD; Descartes, M; Franklin, J; Cliver, SP
      A five-year experience with fragile X screening of high-risk gravid women

      AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
    41. Crawford, DC; Meadows, KL; Newman, JL; Taft, LF; Pettay, DL; Gold, LB; Hersey, SJ; Hinkle, EF; Stanfield, ML; Holmgreen, P; Yeargin-Allsopp, M; Boyle, C; Sherman, SL
      Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population

      AMERICAN JOURNAL OF HUMAN GENETICS
    42. RIDDLE JE; CHEEMA A; SOBESKY WE; GARDNER SC; TAYLOR AK; PENNINGTON BF; HAGERMAN RJ
      PHENOTYPIC INVOLVEMENT IN FEMALES WITH THE FMR1 GENE MUTATION

      American journal of mental retardation
    43. FRANKE P; LEBOYER M; GANSICKE M; WEIFFENBACH O; BIANCALANA V; CORNILLETLEFEBRE P; CROQUETTE MF; FROSTER U; SCHWAB SG; POUSTKA F; HAUTZINGER M; MAIER W
      GENOTYPE-PHENOTYPE RELATIONSHIP IN FEMALE CARRIERS OF THE PREMUTATIONAND FULL MUTATION OF FMR-1

      Psychiatry research
    44. DELATYCKI MB; PARIS D; GARDNER RJM; FORSHAW K; NICHOLSON GA; NASSIF N; WILLIAMSON R; FORREST SM
      SPERM DNA ANALYSIS IN A FRIEDREICH ATAXIA PREMUTATION CARRIER SUGGESTS BOTH MEIOTIC AND MITOTIC EXPANSION IN THE FRDA GENE

      Journal of Medical Genetics
    45. MURRAY A; WEBB J; GRIMLEY S; CONWAY G; JACOBS P
      STUDIES OF FRAXA AND FRAXE IN WOMEN WITH PREMATURE OVARIAN FAILURE

      Journal of Medical Genetics
    46. RUSSO S; BRISCIOLI V; COGLIATI F; MACCHI M; LALATTA F; LARIZZA L
      AN UNUSUAL FRAGILE-X SIBSHIP - FEMALE COMPOUND HETEROZYGOTE AND MALE WITH A PARTIALLY METHYLATED FULL MUTATION

      Clinical genetics
    47. Huggins, RM; Loesch, DZ; Sherman, SL
      A branching non-linear autoregressive model for the transmission of the fragile X dynamic repeat mutation

      ANNALS OF HUMAN GENETICS
    48. BONTEKOE CJM; DEGRAAFF E; NIEUWENHUIZEN IM; WILLEMSEN R; OOSTRA BA
      FMR1 PREMUTATION ALLELE (CGG)(81) IS STABLE IN MICE

      European journal of human genetics
    49. WILLEMSEN R; SMITS A; MOHKAMSING S; VANBEERENDONK H; DEHAAN A; DEVRIES B; VANDENOUWELAND A; SISTERMANS E; GALJAARD H; OOSTRA BA
      RAPID ANTIBODY-TEST FOR DIAGNOSING FRAGILE-X-SYNDROME - A VALIDATION OF THE TECHNIQUE

      Human genetics
    50. SANDBERG G; SCHALLING M
      EFFECT OF IN-VITRO PROMOTER METHYLATION AND CGG REPEAT EXPANSION ON FMR-1 EXPRESSION

      Nucleic acids research
    51. MAZZOCCO MMM; REISS AL
      NORMAL VARIATION IN SIZE OF THE FMR1 GENE IS NOT ASSOCIATED WITH VARIATION IN INTELLECTUAL-PERFORMANCE

      Intelligence
    52. BAT O; KIMMEL M; AXELROD DE
      COMPUTER-SIMULATION OF EXPANSIONS OF DNA TRIPLET REPEATS IN THE FRAGILE-X-SYNDROME AND HUNTINGTONS-DISEASE

      Journal of theoretical biology
    53. CHEN TA; LU XF; CHE PK; HO WKK
      VARIATION OF THE CGG REPEAT IN FMR-1 GENE IN NORMAL AND FRAGILE-X CHINESE SUBJECTS

      Annals of clinical biochemistry
    54. BARBE B; FRANKE P; MAIER W; LEBOYER M
      FRAGILE-X SYNDROME .1. AN OVERVIEW ON ITS GENETIC MECHANISM

      European psychiatry
    55. KLUGER G; BOHM I; LAUB MC; WALDENMAIER C
      EPILEPSY AND FRAGILE-X GENE-MUTATIONS

      Pediatric neurology
    56. MILA M; CASTELLVIBEL S; GINE R; VAZQUEZ C; BADENAS C; SANCHEZ A; ESTIVILL X
      A FEMALE COMPOUND HETEROZYGOTE (PRE-MUTATION AND FULL-MUTATION) FOR THE CGG FMR1 EXPANSION

      Human genetics
    57. SHERMAN SL; MEADOWS KL; ASHLEY AE
      EXAMINATION OF FACTORS THAT INFLUENCE THE EXPANSION OF THE FRAGILE-X MUTATION IN A SAMPLE OF CONCEPTUSES FROM KNOWN CARRIER FEMALES

      American journal of medical genetics
    58. ABRAMOWICZ MJ; PARMA J; COCHAUX P
      SLIGHT INSTABILITY OF A FMR-1 ALLELE OVER 3 GENERATIONS IN A FAMILY FROM THE GENERAL-POPULATION

      American journal of medical genetics
    59. GRASSO M; PERRONI L; DAGNABRICARELLI F; RINALDI A; ROBLEDO R; SINISCALCO M; FILIPPI G
      PREMUTATION FOR THE MARTIN-BELL SYNDROME ANALYZED IN A LARGE SARDINIAN FAMILY .3. MOLECULAR ANALYSIS WITH THE STB12.3 PROBE

      American journal of medical genetics
    60. MAZZOCCO MMM; HOLDEN JJA
      NEUROPSYCHOLOGICAL PROFILES OF 3 SISTERS HOMOZYGOUS FOR THE FRAGILE-XPREMUTATION

      American journal of medical genetics
    61. ALLINGHAMHAWKINS DJ; BROWN CA; BABUL R; CHITAYAT D; KREKEWICH K; HUMPHRIES T; RAY PN; TESHIMA IE
      TISSUE-SPECIFIC METHYLATION DIFFERENCES AND COGNITIVE FUNCTION IN FRAGILE-X PREMUTATION FEMALES

      American journal of medical genetics
    62. VIANNAMORGANTE AM; COSTA SS; PARES AS; VERRESCHI ITN
      FRAXA PREMUTATION ASSOCIATED WITH PREMATURE OVARIAN FAILURE

      American journal of medical genetics
    63. MERENSTEIN SA; SOBESKY WE; TAYLOR AK; RIDDLE JE; TRAN HX; HAGERMAN RJ
      MOLECULAR-CLINICAL CORRELATIONS IN MALES WITH AN EXPANDED FMR1 MUTATION

      American journal of medical genetics
    64. ROBLEDO R; MELIS P; LAFICARA F; MARCHI J; RINALDI A; SINISCALCO M; FILIPPI G
      FURTHER LINKAGE EVIDENCE FOR LOCALIZATION OF MUTATIONAL SITES FOR NONSYNDROMIC TYPES OF X-LINKED MENTAL-RETARDATION AT THE PERICENTROMERIC REGION

      American journal of medical genetics
    65. CHENG WJ; CHEN WT
      A NEW SELF-ROUTING PERMUTATION NETWORK

      I.E.E.E. transactions on computers
    66. FINUCANE B
      SHOULD ALL PREGNANT-WOMEN BE OFFERED CARRIER TESTING FOR FRAGILE-X SYNDROME

      Clinical obstetrics and gynecology
    67. DREESEN JCFM; GERAEDTS JPM; DUMOULIN JCM; EVERS JLH; PIETERS MHEC
      RS46(DXS548) GENOTYPING OF REPRODUCTIVE CELLS - APPROACHING PREIMPLANTATION TESTING OF THE FRAGILE-X SYNDROME

      Human genetics
    68. BARROSNUNEZ P; MEDINA C; MENDOZA R; SANCHEZCORONA J; GARCIACRUZ D
      UNEXPECTED FAMILIAL RECURRENCE OF IRIS COLOBOMA - A DELAYED MUTATION MECHANISM

      Clinical genetics
    69. GIORDANO M; DEANGELIS MS; CANTELLO R; ABDIRISAK NA; MUTANI R; RICHIARDI PM
      PROBLEMS ARISING IN CORRELATING CLINICAL AND MOLECULAR-DATA IN MYOTONIC-DYSTROPHY

      Clinical genetics
    70. ASHLEY AE; SHERMAN SL
      POPULATION-DYNAMICS OF A MEIOTIC MITOTIC EXPANSION MODEL FOR THE FRAGILE-X SYNDROME

      American journal of human genetics
    71. STRAIN L; PORTEOUS MEM; GOSDEN CM; ELLIS PM; NEILSON JP; BONTHRON DT
      PRENATAL-DIAGNOSIS OF FRAGILE-X-SYNDROME - MANAGEMENT OF THE MALE FETUS WITH A PREMUTATION

      Prenatal diagnosis
    72. ZLOTOGORA J
      ON THE INHERITANCE OF THE SPLIT HAND SPLIT FOOT MALFORMATION

      American journal of medical genetics
    73. SUTHERLAND GR; BROWN WT; HAGERMAN R; JENKINS E; LUBS H; MANDEL JL; NELSON D; NERI G; PARTINGTON MW; RICHARDS RI; STEVENSON R; TURNER G
      SIXTH INTERNATIONAL WORKSHOP ON THE FRAGILE-X AND X-LINKED MENTAL-RETARDATION

      American journal of medical genetics
    74. LOESCH DZ; HAY DA; MULLEY J
      TRANSMITTING MALES AND CARRIER FEMALES IN FRAGILE-X - REVISITED

      American journal of medical genetics
    75. KOLEHMAINEN K
      POPULATION-GENETICS OF FRAGILE-X - A MULTIPLE ALLELE MODEL WITH VARIABLE RISK OF CGG REPEAT EXPANSION

      American journal of medical genetics
    76. HOFSTEE Y; ARINAMI T; HAMAGUCHI H
      COMPARISON BETWEEN THE CYTOGENETIC TEST FOR FRAGILE-X AND THE MOLECULAR ANALYSIS OF THE FMR-1 GENE IN JAPANESE MENTALLY-RETARDED INDIVIDUALS

      American journal of medical genetics
    77. HALLEY D; VANDENOUWELAND A; DEELEN W; VERMA I; OOSTRA B
      STRATEGY FOR RELIABLE PRENATAL DETECTION OF NORMAL-MALE CARRIERS OF THE FRAGILE-X-SYNDROME

      American journal of medical genetics
    78. CHONG SS; EICHLER EE; NELSON DL; HUGHES MR
      ROBUST AMPLIFICATION AND ETHIDIUM-VISIBLE DETECTION OF THE FRAGILE-X-SYNDROME CGG REPEAT USING PFU POLYMERASE

      American journal of medical genetics
    79. WILTON SD; JOHNSEN RD; PEDRETTI JR; LAING NG
      2 DISTINCT MUTATIONS IN A SINGLE DYSTROPHIN GENE - IDENTIFICATION OF AN ALTERED SPLICE-SITE AS THE PRIMARY BECKER MUSCULAR-DYSTROPHY MUTATION

      American journal of medical genetics
    80. VEHRING KH; KURLEMANN G; TRAUPE H; BONSMANN G; GERDING H; MOLLMANN S; HAMM H
      INCONTINENTIA PIGMENTI IN AN INFANT BOY

      Hautarzt


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Documento generato il 06/06/20 alle ore 17:37:02