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    1. Mantyjarvi, M; Nurmenniemi, P; Partanen, J; Myohanen, T; Peippo, M; Alitalo, T
      Clinical features and a follow-up study in a family with X-linked progressive cone-rod dystrophy

      ACTA OPHTHALMOLOGICA SCANDINAVICA
    2. Hagerman, RJ; Hagerman, PJ
      Fragile X syndrome: A model of gene-brain-behavior relationships

      MOLECULAR GENETICS AND METABOLISM
    3. Yesim, F; Demirci, K; White, NJ; Rigatti, BW; Lewis, KF; Gorin, MB
      Identification, genomic structure, and screening of the vacuolar proton-ATPase membrane sector-associated protein M8-9 gene within the COD1 critical region (Xp11.4)

      MOLECULAR VISION
    4. Abbeduto, L; Evans, J; Dolan, T
      Theoretical perspectives on language and communication problems in mental retardation and developmental disabilities

      MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS
    5. Kenneson, A; Zhang, FP; Hagedorn, CH; Warren, ST
      Reduced FMRP and increased FMR1 transcription is proportionally associatedwith CGG repeat number in intermediate-length and premutation carriers

      HUMAN MOLECULAR GENETICS
    6. Eliez, S; Feinstein, C
      The fragile X syndrome: bridging the gap from gene to behavior

      CURRENT OPINION IN PSYCHIATRY
    7. Bennetto, L; Pennington, BF; Porter, D; Taylor, AK; Hagerman, RJ
      Profile of cognitive functioning in women with the fragile X mutation

      NEUROPSYCHOLOGY
    8. Schmidt, S; Traber, F; Block, W; Keller, E; Pohl, C; von Oertzen, J; Schild, H; Schlegel, U; Klockgether, T
      Phenotype assignment in symptomatic female carriers of X-linked adrenoleukodystrophy

      JOURNAL OF NEUROLOGY
    9. Simon, JA; Keenan, JM; Pennington, BF; Taylor, AK; Hagerman, RJ
      Discourse processing in women with fragile X syndrome: Evidence for a deficit establishing coherence

      COGNITIVE NEUROPSYCHOLOGY
    10. 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
    11. Kwon, H; Menon, V; Eliez, S; Warsofsky, IS; White, CD; Dyer-Friedman, J; Taylor, AK; Glover, GH; Reiss, AL
      Functional neuroanatomy of visuospatial working memory in fragile X syndrome: Relation to behavioral and molecular measures

      AMERICAN JOURNAL OF PSYCHIATRY
    12. Murray, A
      Premature ovarian failure and the FMR1 gene

      SEMINARS IN REPRODUCTIVE MEDICINE
    13. Rupec, RA; Petropoulou, T; Belohradsky, BH; Walchner, M; Liese, JG; Plewig, G; Messer, G
      Lupus erythematosus tumidus and chronic discoid lupus erythematosus in carriers of X-linked chronic granulomatous disease

      EUROPEAN JOURNAL OF DERMATOLOGY
    14. Cordoba-Guijarro, S; Feal, C; Dauden, E; Fraga, J; Garcia-Diez, A
      Lupus erythematosus-like lesions in a carrier of X-linked chronic granulomatous disease

      JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
    15. Crilley, JG; Boehm, EA; Rajagopalan, B; Blamire, AM; Styles, P; Muntoni, F; Hilton-Jones, D; Clarke, K
      Magnetic resonance spectroscopy evidence of abnormal cardiac energetics inXp21 muscular dystrophy

      JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
    16. Sharp, A; Robinson, D; Jacobs, P
      Age- and tissue-specific variation of X chromosome inactivation ratios in normal women

      HUMAN GENETICS
    17. Orstavik, KH; Scheibel, E; Ingerslev, J; Schwartz, M
      Absence of correlation between X chromosome inactivation pattern and plasma concentration of factor VIII and factor IX in carriers of haemophilia A and B

      THROMBOSIS AND HAEMOSTASIS
    18. Chowdhury, MMU; Anstey, A; Matthews, CNA
      The dermatosis of chronic granulomatous disease

      CLINICAL AND EXPERIMENTAL DERMATOLOGY
    19. Tassone, F; Hagerman, RJ; Taylor, AK; Mills, JB; Harris, SW; Gane, LW; Hagerman, PJ
      Clinical involvement and protein expression in individuals with the FMR1 premutation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    20. Lu, S; Hoey, A
      Age- and sex-associated changes in cardiac beta(1)-adrenoceptors from the muscular dystrophy (mdx) mouse

      JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
    21. 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
    22. York, A; von Fraunhofer, N; Turk, J; Sedgwick, P
      Fragile-X syndrome, Down's syndrome and autism: awareness and knowledge amongst special educators

      JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
    23. Hoogerwaard, EM; van der Wouw, PA; Wilde, AAM; Bakker, E; Ippel, PF; Oosterwijk, JC; Majoor-Krakauer, DF; van Essen, AJ; Leschot, NJ; de Visser, M
      Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy

      NEUROMUSCULAR DISORDERS
    24. Harris, SW; Hagerman, RJ
      Fragile X syndrome: new developments

      CURRENT OPINION IN PSYCHIATRY
    25. Yeshaya, J; Shalgi, R; Shohat, M; Avivi, L
      FISH-detected delay in replication timing of mutated FMR1 alleles on both active and inactive X-chromosomes

      HUMAN GENETICS
    26. Kaufmann, WE; Abrams, MT; Chen, WM; Reiss, AL
      Genotype, molecular phenotype, and cognitive phenotype: Correlations in fragile X syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    27. 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
    28. Hoogerwaard, EM; Bakker, E; Ippel, PF; Oosterwijk, JC; Majoor-Krakauer, DF; Leschot, NJ; Van Essen, AJ; Brunner, HG; van der Wouw, PA; Wilde, AAM; de Visser, M
      Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands: a cohort study

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

      CLINICAL GENETICS
    30. Al-Semaan, Y; Malla, AK; Lazosky, A
      Schizoaffective disorder in a fragile-X carrier

      AUSTRALIAN AND NEW ZEALAND JOURNAL OF PSYCHIATRY
    31. Chen, RS; Huang, CC; Chu, NS; Cheng, CC; Wei, YH
      Random X chromosome methylation patterns in the carriers with clinical phenotypic expressions of X-linked recessive bulbospinal neuronopathy

      ACTA NEUROLOGICA SCANDINAVICA
    32. VANDERKOOI AJ; DEVOOGT WG; BARTH PG; BUSCH HFM; JENNEKENS FGI; JONGEN PJH; DEVISSER M
      THE HEART IN LIMB-GIRDLE MUSCULAR-DYSTROPHY

      HEART
    33. Melacini, P; Fanin, M; Angelini, A; Pegoraro, E; Livi, U; Danieli, GA; Hoffman, EP; Thiene, G; Dalla Volta, S; Angelini, C
      Cardiac transplantation in a Duchenne muscular dystrophy carrier

      NEUROMUSCULAR DISORDERS
    34. MAIER W; FRANKE P; HAWELLEK B
      SPECIAL FEATURE - FAMILY-GENETIC RESEARCH STRATEGIES FOR PERSONALITY-DISORDERS

      Journal of personality disorders
    35. Mazzocco, MMM; Baumgardner, T; Freund, LS; Reiss, AL
      Social functioning among girls with fragile X or Turner syndrome and theirsisters

      JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
    36. MODAMIO GR; MATEOS MAM; ENSENAT MAG; GOMEZ MAP
      CHRONIC GRANULOMATOUS-DISEASE - A CASE-STUDY OF A SYMPTOMATIC CARRIER

      Journal of investigational allergology & clinical immunology
    37. MOUTOU C; VINCENT MC; BIANCALANA V; MANDEL JL
      TRANSITION FROM PREMUTATION TO FULL MUTATION IN FRAGILE-X-SYNDROME ISLIKELY TO BE PREZYGOTIC

      Human molecular genetics
    38. DOHIL M; PRENDIVILLE JS; CRAWFORD RI; SPEERT DP
      CUTANEOUS MANIFESTATIONS OF CHRONIC-GRANULOMATOUS-DISEASE - A REPORT OF 4 CASES AND REVIEW OF THE LITERATURE

      Journal of the American Academy of Dermatology
    39. HAGERMAN RJ
      FRAGILE-X-SYNDROME - MOLECULAR AND CLINICAL INSIGHTS AND TREATMENT ISSUES

      Western journal of medicine
    40. HAGERMAN RJ
      FRAGILE-X SYNDROME

      Child and adolescent psychiatric clinics of North America
    41. FRANKE P; BARBE B; LEBOYER M; MAIER W
      FRAGILE-X SYNDROME .2. COGNITIVE AND BEHAVIORAL-CORRELATES OF MUTATIONS OF THE FMR-1 GENE

      European psychiatry
    42. 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
    43. MAZZOCCO MMM; HOLDEN JJA
      NEUROPSYCHOLOGICAL PROFILES OF 3 SISTERS HOMOZYGOUS FOR THE FRAGILE-XPREMUTATION

      American journal of medical genetics
    44. STALEYGANE L; FLYNN L; NEITZEL K; CRONISTER A; HAGERMAN RJ
      EXPANDING THE ROLE OF THE GENETIC COUNSELOR

      American journal of medical genetics
    45. VERHAGEN WIM; HUYGEN PLM; ARTS WFM
      MULTISYSTEM SIGNS AND SYMPTOMS IN X-LINKED ATAXIA CARRIERS

      Journal of the neurological sciences
    46. HAGERMAN RJ
      BIOMEDICAL ADVANCES IN DEVELOPMENTAL-PSYCHOLOGY - THE CASE OF FRAGILE-X SYNDROME

      Developmental psychology
    47. HINTON VJ; HALPERIN JM; DOBKIN CS; DING XH; BROWN WT; MIEZEJESKI CM
      COGNITIVE AND MOLECULAR ASPECTS OF FRAGILE-X

      Neuropsychology, development, and cognition. Section A, Journal of clinical and experimental neuropsychology
    48. LOVAS JGL; ISSEKUTZ A; WALSH N; MILLER RAW
      LUPUS ERYTHEMATOSUS-LIKE ORAL MUCOSAL AND SKIN-LESIONS IN A CARRIER OF CHRONIC GRANULOMATOUS-DISEASE - CHRONIC GRANULOMATOUS-DISEASE CARRIER GENODERMATOSIS

      Oral surgery, oral medicine, oral pathology, oral radiology and endodontics
    49. REISS AL; FREUND LS; BAUMGARDNER TL; ABRAMS MT; DENCKLA MB
      CONTRIBUTION OF THE FMR1 GENE MUTATION TO HUMAN INTELLECTUAL DYSFUNCTION

      Nature genetics
    50. MAZZOCCO MMM; FREUND LS; BAUMGARDNER TL; FORMAN L; REISS AL
      NEUROPSYCHOLOGICAL AND PSYCHOSOCIAL EFFECTS OF THE FMR-1 FULL MUTATION - CASE-REPORT OF MONOZYGOTIC TWINS DISCORDANT FOR THE FRAGILE-X SYNDROME

      Neuropsychology
    51. BAUMGARDNER TL; REISS AL; FREUND LS; ABRAMS MT
      SPECIFICATION OF THE NEUROBEHAVIORAL PHENOTYPE IN MALES WITH FRAGILE-X SYNDROME

      Pediatrics
    52. KIRCHGESSNER CU; WARREN ST; WILLARD HF
      X INACTIVATION OF THE FMR1 FRAGILE-X MENTAL-RETARDATION GENE

      Journal of Medical Genetics
    53. SOBESKY WE; HULL CE; HAGERMAN RJ
      SYMPTOMS OF SCHIZOTYPAL PERSONALITY-DISORDER IN FRAGILE-X WOMEN

      Journal of the American Academy of Child and Adolescent Psychiatry
    54. DORN MB; MAZZOCCO MMM; HAGERMAN RJ
      BEHAVIORAL AND PSYCHIATRIC-DISORDERS IN ADULT MALE CARRIERS OF FRAGILE-X

      Journal of the American Academy of Child and Adolescent Psychiatry
    55. CRADDOCK N; DANIELS J; MCGUFFIN P; OWEN M
      VARIATION AT THE FRAGILE X-LOCUS DOES NOT INFLUENCE SUSCEPTIBILITY TOBIPOLAR DISORDER

      American journal of medical genetics
    56. SOBESKY WE; PENNINGTON BF; PORTER D; HULL CE; HAGERMAN RJ
      EMOTIONAL AND NEUROCOGNITIVE DEFICITS IN FRAGILE-X

      American journal of medical genetics
    57. ROUSSEAU F
      THE FRAGILE-X SYNDROME - IMPLICATIONS OF MOLECULAR-GENETICS FOR THE CLINICAL SYNDROME

      European journal of clinical investigation
    58. THAPAR A; GOTTESMAN II; OWEN MJ; ODONOVAN MC; MCGUFFIN P
      THE GENETICS OF MENTAL-RETARDATION

      British Journal of Psychiatry
    59. TUINIER S; VERHOEVEN WMA
      PSYCHIATRY AND MENTAL-RETARDATION - TOWARDS A BEHAVIORAL PHARMACOLOGICAL CONCEPT

      JIDR. Journal of intellectual disability research
    60. HAFNER J; PANIZZON R; BRUCKNERTUDERMAN L; WUTHRICH B; SEGER RA; BURG G
      DISCOID LUPUS-ERYTHEMATOSUS - LIKE SKIN-L ESIONS IN A CARRIER OF CHRONIC GRANULOMATOUS-DISEASE

      Hautarzt


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 16/02/20 alle ore 21:07:20