Catalogo Articoli (Spogli Riviste)

HELP
ATTENZIONE: attualmente gli articoli Current Contents (fonte ISI) a partire dall'anno 2002 sono consultabili sulla Risorsa On-Line

Le informazioni sugli articoli di fonte ISI sono coperte da copyright

La ricerca find articoli where soggetti phrase all words 'FMR-1 GENE' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 104 riferimenti
Si mostrano 100 riferimenti a partire da 1
Selezionare un intervallo

Per ulteriori informazioni selezionare i riferimenti di interesse.

    1. Saha, S; Karmakar, P; Chatterjee, C; Banerjee, D; Das, S; Dasgupta, UB
      Fragile X syndrome in Calcutta, India

      ANNALS OF CLINICAL BIOCHEMISTRY
    2. Mulatinho, MV; Llerena, JC; Pimentel, MMG
      FRAXA screening in Brazilian institutionalized individuals with nonspecific severe mental retardation

      GENETIC TESTING
    3. Murray, A; Ennis, S; Youings, SA; Sharrock, AJ; Lewis, C; Pound, MC; Macpherson, JN; Dennis, NR; Morton, NE; Jacobs, PA
      Stability and haplotype analysis of the FRAXE region

      EUROPEAN JOURNAL OF HUMAN GENETICS
    4. Balakumaran, BS; Freudenreich, CH; Zakian, VA
      CGG/CCG repeats exhibit orientation-dependent instability and orientation-independent fragility in Saccharomyces cerevisiae

      HUMAN MOLECULAR GENETICS
    5. Wang, YC; Li, C; Lin, ML; Lin, WH; Li, SY
      Molecular diagnosis of fragile X syndrome and distribution of CGG repeats in the FMR-1 gene in Taiwanese

      JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION
    6. Iqbal, MA; Sakati, N; Nester, M; Ozand, P
      Cytogenetic diagnosis of fragile X syndrome: Study of 305 suspected cases in Saudi Arabia

      ANNALS OF SAUDI MEDICINE
    7. Lewis, HA; Musunuru, K; Jensen, KB; Edo, C; Chen, H; Darnell, RB; Burley, SK
      Sequence-specific RNA binding by a Nova KH domain: Implications for paraneoplastic disease and the fragile X syndrome

      CELL
    8. Jensen, KB; Musunuru, K; Lewis, HA; Burley, SK; Darnell, RB
      The tetranucleotide UCAY directs the specific recognition of RNA by the Nova K-homology 3 domain

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    9. Musumeci, SA; Bosco, P; Calabrese, G; Bakker, C; De Sarro, GB; Elia, M; Ferri, R; Oostra, BA
      Audiogenic seizures susceptibility in transgenic mice with fragile X syndrome

      EPILEPSIA
    10. Pimentel, MMG
      Fragile X syndrome

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    11. Tzeng, CC; Cho, WC; Kuo, PL; Chen, RM
      Pilot fragile X screening in normal population of Taiwan

      DIAGNOSTIC MOLECULAR PATHOLOGY
    12. Tamanini, F; Bontekoe, C; Bakker, CE; van Unen, L; Anar, B; Willemsen, R; Yoshida, M; Galjaard, H; Oostra, BA; Hoogeveen, AT
      Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations

      HUMAN MOLECULAR GENETICS
    13. Lambiris, N; Peters, H; Bollmann, R; Leschik, G; Leisti, J; Salonen, R; Cobet, G; Oostra, BA; Willemsen, R
      Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnostics

      HUMAN GENETICS
    14. Paradee, W; Melikian, HE; Rasmussen, DL; Kenneson, A; Conn, PJ; Warren, ST
      Fragile X mouse: Strain effects of knockout phenotype and evidence suggesting deficient amygdala function

      NEUROSCIENCE
    15. White, PJ; Borts, RH; Hirst, MC
      Stability of the human fragile X (CGG)(n) triplet repeat array in Saccharomyces cerevisiae deficient in aspects of DNA metabolism

      MOLECULAR AND CELLULAR BIOLOGY
    16. 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
    17. Zhong, N; Ju, WN; Xu, WM; Ye, LL; Shen, Y; Wu, GY; Chen, SH; Jin, RM; Hu, XF; Yang, AD; Liu, XX; Poon, P; Pang, C; Zheng, Y; Song, L; Zhao, P; Fu, BJ; Gu, HJ; Brown, WT
      Frequency of the fragile X syndrome in Chinese mentally retarded populations is similar to that in Caucasians

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

      AMERICAN JOURNAL OF MEDICAL GENETICS
    19. de Vries, BBA; Mohkamsing, S; van den Ouweland, AMW; Mol, E; Gelsema, K; van Rijn, M; Tibben, A; Halley, DJJ; Duivenvoorden, HJ; Oostra, BA; Niermeijer, MF
      Screening for the fragile X syndrome among the mentally retarded: a clinical study

      JOURNAL OF MEDICAL GENETICS
    20. Musumeci, SA; Hagerman, RJ; Ferri, R; Bosco, P; Dalla Bernardina, B; Tassinari, CA; De Sarro, GB; Elia, M
      Epilepsy and EEG findings in males with fragile X syndrome

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

      CLINICAL GENETICS
    22. RAIN JC; RAFI Z; RHANI Z; LEGRAIN P; KRAMER A
      CONSERVATION OF FUNCTIONAL DOMAINS INVOLVED IN RNA-BINDING AND PROTEIN-PROTEIN INTERACTIONS IN HUMAN AND SACCHAROMYCES-CEREVISIAE PRE-MESSENGER-RNA SPLICING FACTOR SF1

      RNA
    23. MEZQUITA J; PAU M; MEZQUITA C
      4 ISOFORMS OF THE SIGNAL-TRANSDUCTION AND RNA-BINDING PROTEIN QKI EXPRESSED DURING CHICKEN SPERMATOGENESIS

      Molecular reproduction and development
    24. GIBSON TJ; SPRING J
      GENETIC REDUNDANCY IN VERTEBRATES - POLYPLOIDY AND PERSISTENCE OF GENES ENCODING MULTIDOMAIN PROTEINS

      Trends in genetics
    25. VORSANOVA SG; VEKHOVA NV; DEMIDOVA IA; YUROV YB
      SYNDROME OF MENTAL-RETARDATION, LINKED WITH FRAGILE X-CHROMOSOME - PROBLEMS OF DIAGNOSTICS AND INHERITANCE

      Zurnal nevropatologii i psihiatrii im. S.S. Korsakova
    26. JARA L; LOPEZ M; MELLADO C; ASPILLAGA M; AVENDANO I; BLANCO R
      CLINICAL AND METABOLIC SCREENING FOR FRAGILE-X-SYNDROME IN 300 PATIENTS WITH UNSPECIFIC MENTAL-RETARDATION

      Revista Medica de Chile
    27. Alliende, MA; Urzua, B; Valiente, A; Cortes, F; Curotto, B; Rojas, C
      Direct molecular analysis of FMR-1 gene mutation in patients with fragile Xq syndrome and their families

      REVISTA MEDICA DE CHILE
    28. WOHRLE D; SALAT U; GLASER D; MUCKE J; MEISELSTOSIEK M; SCHINDLER D; VOGEL W; STEINBACH P
      UNUSUAL MUTATIONS IN HIGH-FUNCTIONING FRAGILE-X MALES - APPARENT INSTABILITY OF EXPANDED UNMETHYLATED CGG REPEATS

      Journal of Medical Genetics
    29. JENKINS T; KRAUSE A
      MOLECULAR EVIDENCE THAT FRAGILE-X-SYNDROME OCCURS IN THE SOUTH-AFRICAN BLACK-POPULATION

      Journal of Medical Genetics
    30. DIFRUSCIO M; CHEN TP; BONYADI S; LASKO P; RICHARD S
      THE IDENTIFICATION OF 2 DROSOPHILA K-HOMOLOGY DOMAIN PROTEINS - KEP1 AND SAM ARE MEMBERS OF THE SAM68 FAMILY OF GSG DOMAIN PROTEINS

      The Journal of biological chemistry
    31. STEINBACH P; GLASER D; VOGEL W; WOLF M; SCHWEMMLE S
      THE DMPK GENE OF SEVERELY AFFECTED MYOTONIC-DYSTROPHY PATIENTS IS HYPERMETHYLATED PROXIMAL TO THE LARGELY EXPANDED CTG REPEAT

      American journal of human genetics
    32. HECIMOVIC S; BARISIC I; PAVELIC K
      DNA ANALYSIS OF THE FRAGILE-X-SYNDROME IN AN AT RISK PEDIATRIC POPULATION IN CROATIA - SIMPLE CLINICAL PRESELECTION CRITERIA CAN CONSIDERABLY IMPROVE THE COST-EFFECTIVENESS OF FRAGILE-X SCREENING STUDIES

      Human heredity
    33. CHAKRABARTI L; DAVIES KE
      FRAGILE-X-SYNDROME

      Current opinion in neurology
    34. MALTER HE; IBER JC; WILLEMSEN R; DEGRAAFF E; TARLETON JC; LEISTI J; WARREN ST; OOSTRA BA
      CHARACTERIZATION OF THE FULL FRAGILE-X-SYNDROME MUTATION IN FETAL GAMETES

      Nature genetics
    35. REDDY PS; HOUSMAN DE
      THE COMPLEX PATHOLOGY OF TRINUCLEOTIDE REPEATS

      Current opinion in cell biology
    36. GUPTA GK; BIANCHI DW
      DNA DIAGNOSIS FOR THE PRACTICING OBSTETRICIAN

      Obstetrics and gynecology clinics of North America
    37. OOSTRA BA; HOOGEVEEN AT
      ANIMAL-MODEL FOR FRAGILE-X-SYNDROME

      Annals of medicine
    38. ZORN AM; GROW M; PATTERSON KD; EBERSOLE TA; CHEN Q; ARTZT K; KRIEG PA
      REMARKABLE SEQUENCE CONSERVATION OF TRANSCRIPTS ENCODING AMPHIBIAN AND MAMMALIAN HOMOLOGS OF QUAKING, A KH DOMAIN RNA-BINDING PROTEIN

      Gene
    39. CHEN TP; DAMAJ BB; HERRERA C; LASKO P; RICHARD S
      SELF-ASSOCIATION OF THE SINGLE-KH-DOMAIN FAMILY MEMBERS SAM68, GRP33,GLD-1, AND QK1 - ROLE OF THE KH DOMAIN

      Molecular and cellular biology
    40. FENG Y; GUTEKUNST CA; EBERHART DE; YI H; WARREN ST; HERSCH SM
      FRAGILE-X MENTAL-RETARDATION PROTEIN - NUCLEOCYTOPLASMIC SHUTTLING AND ASSOCIATION WITH SOMATODENDRITIC RIBOSOMES

      The Journal of neuroscience
    41. MAZZOCCO MMM; KNIGHT SJL; ABRAMS MT; DOHENY KF; BAUMGARDNER TL; FREUND LS; DAVIES KE; REISS AL
      COGNITIVE, BEHAVIORAL, AND NEUROANATOMICAL ASSESSMENT OF 2 UNRELATED MALE-CHILDREN EXPRESSING FRAXE

      American journal of medical genetics
    42. MINGRONINETTO RC; PAVANELLO RCM; OTTO PA; VIANNAMORGANTE AM
      EXPERIENCE WITH MOLECULAR AND CYTOGENETIC DIAGNOSIS OF FRAGILE-X-SYNDROME IN BRAZILIAN FAMILIES

      Brazilian journal of genetics
    43. HAGERMAN RJ
      FRAGILE-X-SYNDROME - MOLECULAR AND CLINICAL INSIGHTS AND TREATMENT ISSUES

      Western journal of medicine
    44. WILLEMSEN R; LOS F; MOHKAMSING S; VANDENOUWELAND A; DEELEN W; GALJAARD H; OOSTRA B
      RAPID ANTIBODY-TEST FOR PRENATAL-DIAGNOSIS OF FRAGILE-X-SYNDROME ON AMNIOTIC-FLUID CELLS - A NEW APPRAISAL

      Journal of Medical Genetics
    45. GERARD B; LEHEUZEY MF; BRUNIE G; LEWINE P; SAIAG MC; CACHEUX V; DASILVA F; DUGAS M; MOURENSIMEONI MC; ELION J; GRANDCHAMP B
      SYSTEMATIC SCREENING FOR FRAGILE-X-SYNDROME IN A COHORT OF 574 MENTALLY-RETARDED CHILDREN

      Annales de genetique
    46. DEVRIES BBA; VANDENOUWELAND AMW; MOHKAMSING S; DUIVENVOORDEN HJ; MOL E; GELSEMA K; VANRIJN M; HALLEY DJJ; SANDKUIJL LA; OOSTRA BA; TIBBEN A; NIERMEIJER MF
      SCREENING AND DIAGNOSIS FOR THE FRAGILE-X-SYNDROME AMONG THE MENTALLY-RETARDED - AN EPIDEMIOLOGIC AND PSYCHOLOGICAL SURVEY

      American journal of human genetics
    47. SCHWEMMLE S; DEGRAAFF E; DEISSLER H; GLASER D; WOHRLE D; KENNERKNECHT I; JUST W; OOSTRA BA; DORFLER W; VOGEL W; STEINBACH P
      CHARACTERIZATION OF FMR1 PROMOTER ELEMENTS BY IN-VIVO - FOOTPRINTING ANALYSIS

      American journal of human genetics
    48. KHANDJIAN EW; CORBIN F; WOERLY S; ROUSSEAU F
      THE FRAGILE-X MENTAL-RETARDATION PROTEIN IS ASSOCIATED WITH RIBOSOMES

      Nature genetics
    49. DANIELS R; HOLDING C; KONTOGIANNI E; MONK M
      SINGLE-CELL ANALYSIS OF UNSTABLE GENES

      Journal of assisted reproduction and genetics
    50. SUTHERLAND GR; MULLEY JC
      FRAGILE-X-SYNDROME AND FRAGILE XE MENTAL-RETARDATION

      Prenatal diagnosis
    51. KOOY RF; DHOOGE R; REYNIERS E; BAKKER CE; NAGELS G; DEBOULLE K; STORM K; CLINCKE G; DEDEYN PP; OOSTRA BA; WILLEMS PJ
      TRANSGENIC MOUSE MODEL FOR THE FRAGILE-X SYNDROME

      American journal of medical genetics
    52. GODFRAIND JM; REYNIERS E; DEBOULLE K; DHOOGE R; DEDEYN PP; BAKKER CE; OOSTRA BA; KOOY RF; WILLEMS PJ
      LONG-TERM POTENTIATION IN THE HIPPOCAMPUS OF FRAGILE-X KNOCKOUT MICE

      American journal of medical genetics
    53. DOBKIN CS; NOLIN SL; COHEN I; SUDHALTER V; BIALER MG; DING XH; JENKINS EC; ZHONG N; BROWN WT
      TISSUE DIFFERENCES IN FRAGILE-X MOSAICS - MOSAICISM IN BLOOD-CELLS MAY DIFFER GREATLY FROM SKIN

      American journal of medical genetics
    54. MADDALENA A; YADVISH KN; SPENCE WC; HOWARDPEEBLES PN
      A FRAGILE-X MOSAIC MALE WITH A CRYPTIC FULL MUTATION DETECTED IN EPITHELIUM BUT NOT IN BLOOD

      American journal of medical genetics
    55. CARBONELL P; LOPEZ I; GABARRON J; BERNABE IJ; LUCAS JM; GUITART M; GABAU E; GLOVER G
      FRAXE MUTATION ANALYSIS IN 3 SPANISH FAMILIES

      American journal of medical genetics
    56. BROWN WT; NOLIN S; HOUCK G; DING XH; GLICKSMAN A; LI SY; STARKHOUCK S; BROPHY P; DUNCAN C; DOBKIN C; JENKINS E
      PRENATAL-DIAGNOSIS AND CARRIER SCREENING FOR FRAGILE-X BY PCR

      American journal of medical genetics
    57. ZHONG N; KAJANOJA E; SMITS B; PIETROFESA J; CURLEY D; WANG DW; JU MN; NOLIN S; DOBKIN C; RYYNANEN M; BROWN WT
      FRAGILE-X FOUNDER EFFECTS AND NEW MUTATIONS IN FINLAND

      American journal of medical genetics
    58. PAULSON HL; FISCHBECK KH
      TRINUCLEOTIDE REPEATS IN NEUROGENETIC DISORDERS

      Annual review of neuroscience
    59. MUSCO G; STIER G; JOSEPH C; MORELLI MAC; NILGES M; GIBSON TJ; PASTORE A
      3-DIMENSIONAL STRUCTURE AND STABILITY OF THE KH DOMAIN - MOLECULAR INSIGHTS INTO THE FRAGILE-X SYNDROME

      Cell
    60. LIU Q; SIOMI H; SIOMI MC; FISCHER U; ZHANG Y; WAN L; DREYFUSS G
      MOLECULAR CHARACTERIZATION OF THE PROTEIN PRODUCTS OF THE FRAGILE-X-SYNDROME GENE AND THE SURVIVAL OF MOTOR-NEURONS GENE

      Cold Spring Harbor Symposia on Quantitative Biology
    61. JARA L; AVENDANO I; ASPILLAGA M; BLANCO R
      MOLECULAR AND GENETIC FEATURES OF FRAGILE -X SYNDROME - A REVIEW

      Revista Medica de Chile
    62. HAGERMAN RJ; STALEY LW; OCONNER R; LUGENBEEL K; NELSON D; MCLEAN SD; TAYLOR A
      LEARNING-DISABLED MALES WITH A FRAGILE-X CGG EXPANSION IN THE UPPER PREMUTATION SIZE RANGE

      Pediatrics
    63. HAGERMAN RJ
      BIOMEDICAL ADVANCES IN DEVELOPMENTAL-PSYCHOLOGY - THE CASE OF FRAGILE-X SYNDROME

      Developmental psychology
    64. MILEWSKI M; ZYGULSKA M; BAL J; DEELEN WH; OBERSZTYN E; BOCIAN E; HALLEY DJJ; HORST J; MAZURCZAK T
      ANALYSIS OF UNSTABLE DNA-SEQUENCE IN FRM1 GENE IN POLISH FAMILIES WITH FRAGILE-X SYNDROME

      Acta Biochimica Polonica
    65. YAZAWA I; NUKINA N; HASHIDA H; GOTO J; YAMADA M; KANAZAWA I
      ABNORMAL GENE-PRODUCT IDENTIFIED IN HEREDITARY DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (DRPLA) BRAIN

      Nature genetics
    66. HERGERSBERG M; MATSUO K; GASSMANN M; SCHAFFNER W; LUSCHER B; RULICKE T; AGUZZI A
      TISSUE-SPECIFIC EXPRESSION OF A FMR1 BETA-GALACTOSIDASE FUSION GENE IN TRANSGENIC MICE/

      Human molecular genetics
    67. STINE OC; LI SH; PLEASANT N; WAGSTER MV; HEDREEN JC; ROSS CA
      EXPRESSION OF THE MUTANT ALLELE OF IT-15 (THE HD GENE) IN STRIATUM AND CORTEX OF HUNTINGTONS-DISEASE PATIENTS

      Human molecular genetics
    68. BUTLER MG; PRATESI R; VNENCAKJONES CL
      MOLECULAR-GENETIC ANALYSIS OF MENTALLY-RETARDED MALES WITH FEATURES OF THE FRAGILE-X SYNDROME

      JIDR. Journal of intellectual disability research
    69. ELALEEM AA; BOHM I; TEMTAMY S; ELAWADY M; AWADALLA M; SCHMIDTKE J; STUHRMANN M
      DIRECT MOLECULAR ANALYSIS OF THE FRAGILE-X SYNDROME IN A SAMPLE OF EGYPTIAN AND GERMAN PATIENTS USING NONRADIOACTIVE PCR AND SOUTHERN BLOT FOLLOWED BY CHEMILUMINESCENT DETECTION

      Human genetics
    70. 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
    71. MITCHELL JE; NEWBURY SF; MCCLELLAN JA
      COMPACT STRUCTURES OF D(CNG)(N) OLIGONUCLEOTIDES IN SOLUTION AND THEIR POSSIBLE RELEVANCE TO FRAGILE-X AND RELATED HUMAN GENETIC-DISEASES

      Nucleic acids research
    72. ZHANG Y; OCONNOR JP; SIOMI MC; SRINIVASAN S; DUTRA A; NUSSBAUM RL; DREYFUSS G
      THE FRAGILE-X MENTAL-RETARDATION SYNDROME PROTEIN INTERACTS WITH NOVEL HOMOLOGS FXR1 AND FXR2

      EMBO journal
    73. SIOMI MC; SIOMI H; SAUER WH; SRINIVASAN S; NUSSBAUM RL; DREYFUSS G
      FXR1, AN AUTOSOMAL HOMOLOG OF THE FRAGILE-X MENTAL-RETARDATION GENE

      EMBO journal
    74. CASTELLVIBEL S; MILA M; SOLER A; CARRIO A; SANCHEZ A; VILLA M; JIMENEZ MD; ESTIVILL X
      PRENATAL-DIAGNOSIS OF FRAGILE-X SYNDROME - (CGG)(N) EXPANSION AND METHYLATION OF CHORIONIC VILLUS SAMPLES

      Prenatal diagnosis
    75. HUMMERICH H; LEHRACH H
      TRINUCLEOTIDE REPEAT EXPANSION AND HUMAN-DISEASE

      Electrophoresis
    76. MUELLER OT; HARTSFIELD JK; AMAR MJA; GALLARDO LA; KOUSSEFF BG
      FRAGILE-X SYNDROME - DISCORDANT LEVELS OF CGG REPEAT MOSAICISM IN 2 BROTHERS

      American journal of medical genetics
    77. PRIOR TW; PAPP AC; SNYDER PJ; SEDRA MS; GUIDA M; ENRILE BG
      GERMLINE MOSAICISM AT THE FRAGILE-X LOCUS

      American journal of medical genetics
    78. BERRYKRAVIS E; HICAR M; CIURLIONIS R
      REDUCED CYCLIC-AMP PRODUCTION IN FRAGILE-X SYNDROME - CYTOGENETIC ANDMOLECULAR CORRELATIONS

      Pediatric research
    79. SUTHERLAND GR; RICHARDS RI
      SIMPLE TANDEM DNA REPEATS AND HUMAN GENETIC-DISEASE

      Proceedings of the National Academy of Sciences of the United Statesof America
    80. BANARES VG
      UPDATING THE FRAGILE-X SYNDROME

      Medicina
    81. MULLEY JC; YU S; LOESCH DZ; HAY DA; DONNELLY A; GEDEON AK; CARBONELL P; LOPEZ I; GLOVER G; GABARRON I; YU PWL; BAKER E; HAAN EA; HOCKEY A; KNIGHT SJL; DAVIES KE; RICHARDS RI; SUTHERLAND GR
      FRAXE AND MENTAL-RETARDATION

      Journal of Medical Genetics
    82. MACPHERSON JN; CURTIS G; CROLLA JA; DENNIS N; MIGEON B; GREWAL PK; HIRST MC; DAVIES KE; JACOBS PA
      UNUSUAL (CGG)(N) EXPANSION AND RECOMBINATION IN A FAMILY WITH FRAGILE-X AND DIGEORGE-SYNDROME

      Journal of Medical Genetics
    83. TROMMSDORFF M; KOCHL S; LINGENHEL A; KRONENBERG F; DELPORT R; VERMAAK H; LEMMING L; KLAUSEN IC; FAERGEMAN O; UTERMANN G; KRAFT HG
      A PENTANUCLEOTIDE REPEAT POLYMORPHISM IN THE 5' CONTROL REGION OF THEAPOLIPOPROTEIN(A) GENE IS ASSOCIATED WITH LIPOPROTEIN(A) PLASMA-CONCENTRATIONS IN CAUCASIANS

      The Journal of clinical investigation
    84. ILLARIOSHKIN SN; IVANOVASMOLENSKAYA IA; MARKOVA ED
      NOVEL MUTATIONAL MECHANISM IN MAN - EXPAN SION OF TRINUCLEOTIDE REPEATS

      Genetika
    85. MONCKTON DG; CASKEY T
      UNSTABLE TRIPLET REPEAT DISEASES

      Circulation
    86. GEDEON AK; KEINANEN M; ADES LC; KAARIAINEN H; GECZ J; BAKER E; SUTHERLAND GR; MULLEY JC
      OVERLAPPING SUBMICROSCOPIC DELETIONS IN XQ28 IN 2 UNRELATED BOYS WITHDEVELOPMENTAL DISORDERS - IDENTIFICATION OF A GENE NEAR FRAXE

      American journal of human genetics
    87. HIRST MC; GREWAL PK; DAVIES KE
      PRECURSOR ARRAYS FOR TRIPLET REPEAT EXPANSION AT THE FRAGILE-X LOCUS

      Human molecular genetics
    88. MERENSTEIN SA; SHYU V; SOBESKY WE; STALEY L; BERRYKRAVIS E; NELSON DL; LUGENBEEL KA; TAYLOR AK; PENNINGTON BF; HAGERMAN RJ
      FRAGILE-X SYNDROME IN A NORMAL IQ MALE WITH LEARNING AND EMOTIONAL-PROBLEMS

      Journal of the American Academy of Child and Adolescent Psychiatry
    89. MERENSTEIN SA; SHYU V; SOBESKY WE; STALEY L; BERRYKRAVIS E; NELSON DL; LUGENBEEL KA; TAYLOR AK; PENNINGTON BF; HAGERMAN RJ
      FRAGILE-X SYNDROME IN A NORMAL IQ MALE WITH LEARNING AND EMOTIONAL-PROBLEMS

      Journal of the American Academy of Child and Adolescent Psychiatry
    90. PLASSART E; FONTAINE B
      GENES WITH TRIPLET REPEATS - A NEW CLASS OF MUTATIONS CAUSING NEUROLOGICAL DISEASES

      Biomedicine & pharmacotherapy
    91. CARPENTER NJ
      GENETIC ANTICIPATION - EXPANDING TANDEM REPEATS

      Neurologic clinics
    92. LASPADA AR; PAULSON HL; FISCHBECK KH
      TRINUCLEOTIDE REPEAT EXPANSION IN NEUROLOGICAL DISEASE

      Annals of neurology
    93. VAISANEN ML; KAHKONEN M; LEISTI J
      DIAGNOSIS OF FRAGILE-X SYNDROME BY DIRECT MUTATION ANALYSIS

      Human genetics
    94. 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
    95. 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
    96. HAGERMAN RJ; HULL CE; SAFANDA JF; CARPENTER I; STALEY LW; OCONNOR RA; SEYDEL C; MAZZOCCO MMM; SNOW K; THIBODEAU SN; KUHL D; NELSON DL; CASKEY CT; TAYLOR AK
      HIGH FUNCTIONING FRAGILE-X MALES - DEMONSTRATION OF AN UNMETHYLATED FULLY EXPANDED FMR-1 MUTATION ASSOCIATED WITH PROTEIN EXPRESSION

      American journal of medical genetics
    97. NOLIN SL; GLICKSMAN A; HOUCK GE; BROWN WT; DOBKIN CS
      MOSAICISM IN FRAGILE-X AFFECTED MALES

      American journal of medical genetics
    98. KREUZ FR; PELZ F; PLATE I; ZOLL B
      A GIRL WITH MARTIN-BELL SYNDROME - AN UNU SUAL AND SPORADIC CASE

      Monatsschrift fur Kinderheilkunde
    99. ROUSSEAU F
      THE FRAGILE-X SYNDROME - IMPLICATIONS OF MOLECULAR-GENETICS FOR THE CLINICAL SYNDROME

      European journal of clinical investigation
    100. HAMEL BCJ; SMITS APT; DEGRAAFF E; SMEETS DFCM; SCHOUTE F; EUSSEN BHJ; KNIGHT SJL; DAVIES KE; ASSMANHULSMANS CFCH; OOSTRA BA
      SEGREGATION OF FRAXE IN A LARGE FAMILY - CLINICAL, PSYCHOMETRIC, CYTOGENETIC, AND MOLECULAR-DATA

      American journal of human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/06/20 alle ore 18:27:43