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La ricerca find articoli where soggetti phrase all words 'WILLIAMS SYNDROME' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 262 riferimenti
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    1. Blair, RJR; Frith, U; Smith, N; Abell, F; Cipolotti, L
      Fractionation of visual memory: agency detection and its impairment in autism

      NEUROPSYCHOLOGIA
    2. Elgar, K; Campbell, R
      The development of face-identification skills: What lies behind the face module?

      INFANT AND CHILD DEVELOPMENT
    3. Emanuel, BS; Shaikh, TH
      Segmental duplications: An 'expanding' role in genomic instability and disease

      NATURE REVIEWS GENETICS
    4. Partsch, CJ; Sippell, WG
      Pathogenesis and epidemiology of precocious puberty. Effects of exogenous oestrogens

      HUMAN REPRODUCTION UPDATE
    5. Woodin, M; Wang, PP; Aleman, D; McDonald-McGinn, D; Zackai, E; Moss, E
      Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion

      GENETICS IN MEDICINE
    6. Wu, YQ; Lin, X; Liu, CM; Jamrich, M; Shaffer, LG
      Identification of a human brain-specific gene, calneuron 1, a new member of the calmodulin superfamily

      MOLECULAR GENETICS AND METABOLISM
    7. Dyson, MH; Rose, S; Mahadevan, LC
      Acetyllysine-binding and function of bromodomain-containing proteins in chromatin

      FRONTIERS IN BIOSCIENCE
    8. Vaideeswar, P; Shankar, V; Deshpande, JR; Sivaraman, A; Jain, N
      Pathology of the diffuse variant of supravalvar aortic stenosis

      CARDIOVASCULAR PATHOLOGY
    9. Blanco-Davila, F; Olveda-Rodriguez, JA
      Cleft palate in a patient with Williams' syndrome

      JOURNAL OF CRANIOFACIAL SURGERY
    10. Stamm, C; Friehs, I; Ho, SY; Moran, AM; Jonas, RA; del Nido, PJ
      Congenital supravalvar aortic stenosis: a simple lesion?

      EUROPEAN JOURNAL OF CARDIO-THORACIC SURGERY
    11. Doerks, T; Copley, R; Bork, P
      DDT - a novel domain in different transcription and chromosome remodeling factors

      TRENDS IN BIOCHEMICAL SCIENCES
    12. O'Reilly, MF; Lancioni, GE
      Treating food refusal in a child with Williams syndrome using the parent as therapist in the home setting

      JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
    13. Grice, SJ; Spratling, MW; Karmiloff-Smith, A; Halit, H; Csibra, G; de Haan, M; Johnson, MH
      Disordered visual processing and oscillatory brain activity in autism and Williams Syndrome

      NEUROREPORT
    14. Miani, C; Passon, P; Bracale, AMB; Barotti, A; Panzolli, N
      Treatment of hyperacusis in Williams syndrome with bilateral conductive hearing loss

      EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY
    15. Partsch, CJ; Sippell, WG
      Pathogenesis and epidemiology of precocious puberty. Effects of exogenous oestrogens

      APMIS
    16. Adolphs, R; Sears, L; Piven, J
      Abnormal processing of social information from faces in autism

      JOURNAL OF COGNITIVE NEUROSCIENCE
    17. Moldavsky, M; Lev, D; Lerman-Sagie, T
      Behavioral phenotypes of genetic syndromes: A reference guide for psychiatrists

      JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
    18. Kaplan, P; Wang, PP; Francke, U
      Williams (Williams Beuren) syndrome: A distinct neurobehavioral disorder

      JOURNAL OF CHILD NEUROLOGY
    19. Johnson, LB; Comeau, M; Clarke, KD
      Hyperacusis in Williams syndrome

      JOURNAL OF OTOLARYNGOLOGY
    20. Roy, AL
      Biochemistry and biology of the inducible multifunctional transcription factor TFII-1

      GENE
    21. Urban, Z; Zhang, J; Davis, EC; Maeda, GK; Kumar, A; Stalker, H; Belmont, JW; Boyd, CD; Wallace, MR
      Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene

      HUMAN GENETICS
    22. Rose, C; Wessel, A; Pankau, R; Partsch, CJ; Bursch, J
      Anomalies of the abdominal aorta in Williams-Beuren syndrome - another cause of arterial hypertension

      EUROPEAN JOURNAL OF PEDIATRICS
    23. Vazquez, N; Lehrnbecher, T; Chen, R; Christensen, BL; Gallin, JI; Malech, H; Holland, S; Zhu, SX; Chanock, SJ
      Mutational analysis of patients with p47-phox-deficient chronic granulomatous disease: The significance of recombination events between the p47-phox gene (NCF1) and its highly homologous pseudogenes

      EXPERIMENTAL HEMATOLOGY
    24. Calvo, S; Vullhorst, D; Venepally, P; Cheng, J; Karavanova, I; Buonanno, A
      Molecular dissection of DNA sequences and factors involved in slow muscle-specific transcription

      MOLECULAR AND CELLULAR BIOLOGY
    25. Garfield, JL; Peterson, CC; Perry, T
      Social cognition, language acquisition and the development of the theory of mind

      MIND & LANGUAGE
    26. Strohner, R; Nemeth, A; Jansa, P; Hofmann-Rohrer, U; Santoro, R; Langst, G; Grummt, I
      NoRC - a novel member of mammalian ISWI-containing chromatin remodeling machines

      EMBO JOURNAL
    27. Eberharter, A; Ferrari, S; Langst, G; Straub, T; Imhof, A; Varga-Weisz, P; Wilm, M; Becker, PB
      Acf1, the largest subunit of CHRAC, regulates ISWI-induced nucleosome remodelling

      EMBO JOURNAL
    28. Giordano, U; Turchetta, A; Giannotti, A; Digilio, MC; Virgilii, F; Calzolari, A
      Exercise testing and 24-hour ambulatory blood pressure monitoring in children with Williams syndrome

      PEDIATRIC CARDIOLOGY
    29. Pankau, R; Siebert, R; Kautza, M; Schneppenheim, R; Gosch, A; Wessel, A; Partsch, CJ
      Familial Williams-Beuren syndrome showing varying clinical expression

      AMERICAN JOURNAL OF MEDICAL GENETICS
    30. Chilosi, A; Battaglia, A; Brizzolara, D; Cipriani, P; Pfanner, L; Carey, JC
      Del (9p) syndrome: Proposed behavior phenotype

      AMERICAN JOURNAL OF MEDICAL GENETICS
    31. Vicari, S; Bellucci, S; Carlesimo, GA
      Procedural learning deficit in children with Williams syndrome

      NEUROPSYCHOLOGIA
    32. Tussie-Luna, MI; Bayarsaihan, D; Ruddle, FH; Roy, AL
      Repression of TFII-I-dependent transcription by nuclear exclusion

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    33. Schmitt, JE; Eliez, S; Warsofsky, IS; Bellugi, U; Reiss, AL
      Enlarged cerebellar vermis in Williams syndrome

      JOURNAL OF PSYCHIATRIC RESEARCH
    34. Giannotti, A; Tiberio, G; Castro, M; Virgilii, F; Colistro, F; Ferretti, F; Digilio, MC; Gambarara, M; Dallapiccola, B
      Coeliac disease in Williams syndrome

      JOURNAL OF MEDICAL GENETICS
    35. Elgar, K; Campbell, R
      Annotation: The cognitive neuroscience of face recognition: Implications for developmental disorders

      JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY AND ALLIED DISCIPLINES
    36. Farran, EK; Jarrold, C; Gathercole, SE
      Block design performance in the Williams syndrome phenotype: A problem with mental imagery?

      JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY AND ALLIED DISCIPLINES
    37. Laing, E; Hulme, C; Grant, J; Karmiloff-Smith, A
      Learning to read in Williams syndrome: Looking beneath the surface of atypical reading development

      JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY AND ALLIED DISCIPLINES
    38. Dykens, EM; Hodapp, RM
      Research in mental retardation: Toward an etiologic approach

      JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY AND ALLIED DISCIPLINES
    39. Cheriyath, V; Roy, AL
      Structure-function analysis of TFII-I - Roles of the N-teriminal end, basic region, and I-repeats

      JOURNAL OF BIOLOGICAL CHEMISTRY
    40. Jarrold, C; Baddeley, AD; Hewes, AK; Phillips, C
      A longitudinal assessment of diverging verbal and non-verbal abilities in the Williams syndrome phenotype

      CORTEX
    41. Geggel, RL; Gauvreau, K; Lock, JE
      Balloon dilation angioplasty of peripheral pulmonary stenosis associated with Williams syndrome

      CIRCULATION
    42. Noack, D; Rae, J; Cross, AR; Ellis, BA; Newburger, PE; Curnutte, JT; Heyworth, PG
      Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF-1 pseudogenes

      BLOOD
    43. Eliez, S; Schmitt, JE; White, CD; Wellis, VG; Reiss, AL
      A quantitative MRI study of posterior fossa development in velocardiofacial syndrome

      BIOLOGICAL PSYCHIATRY
    44. Pinter, JD; Eliez, S; Schmitt, JE; Capone, GT; Reiss, AL
      Neuroanatomy of Down's syndrome: A high-resolution MRI study

      AMERICAN JOURNAL OF PSYCHIATRY
    45. Morris, CA; Mervis, CB
      Williams syndrome and related disorders

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    46. Aggoun, Y; Sidi, D; Levy, BI; Lyonnet, S; Kachaner, J; Bonnet, D
      Mechanical properties of the common carotid artery in Williams syndrome

      HEART
    47. Imashuku, S; Hayashi, S; Kuriyama, K; Hibi, S; Tabata, Y; Todo, S
      Sudden death of a 21-year-old female with Williams syndrome showing rare complications

      PEDIATRICS INTERNATIONAL
    48. Reiss, AL; Eliez, S; Schmitt, JE; Patwardhan, A; Haberecht, M
      Brain imaging in neurogenetic conditions: Realizing the potential of behavioral neurogenetics research

      MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS
    49. Mervis, CB; Klein-Tasman, BP
      Williams syndrome: Cognition, personality, and adaptive behavior

      MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS
    50. Chanock, SJ; Roesler, J; Zhan, SX; Hopkins, P; Lee, P; Barrett, DT; Christensen, BL; Curnutte, JT; Gorlach, A
      Genomic structure of the human p47-phox (NCF1) Gene

      BLOOD CELLS MOLECULES AND DISEASES
    51. Marino, B; Digilio, MC
      Congenital heart disease and genetic syndromes: Specific correlation between cardiac phenotype and genotype

      CARDIOVASCULAR PATHOLOGY
    52. Radford, DJ; Pohlner, PG
      The middle aortic syndrome: an important feature of Williams' syndrome

      CARDIOLOGY IN THE YOUNG
    53. Kaufmann, WE; Moser, HW
      Dendritic anomalies in disorders associated with mental retardation

      CEREBRAL CORTEX
    54. Kaufmann, WE; MacDonald, SM; Altamura, CR
      Dendritic cytoskeletal protein expression in mental retardation: An immunohistochemical study of the neocortex in Rett syndrome

      CEREBRAL CORTEX
    55. Schepis, C; Greco, D; Bosco, P; Ragusa, A; Romano, C
      Medial telangiectatic sacral nevi (Types A and C) associated with Williamssyndrome

      DERMATOLOGY
    56. de Luis, O; Valero, MC; Jurado, LAP
      WBSCR14, a putative transcription factor gene deleted in Williams-Beuren syndrome: complete characterisation of the human gene and the mouse ortholog

      EUROPEAN JOURNAL OF HUMAN GENETICS
    57. Metcalfe, K; Rucka, AK; Smoot, L; Hofstadler, G; Tuzler, G; McKeown, P; Siu, V; Rauch, A; Dean, J; Dennis, N; Ellis, I; Reardon, W; Cytrynbaum, C; Osborne, L; Yates, JR; Read, AP; Donnai, D; Tassabehji, M
      Elastin: mutational spectrum in supravalvular aortic stenosis

      EUROPEAN JOURNAL OF HUMAN GENETICS
    58. Milewicz, DM; Urban, Z; Boyd, C
      Genetic disorders of the elastic fiber system

      MATRIX BIOLOGY
    59. Mathias, RS
      Rickets in an infant with Williams syndrome

      PEDIATRIC NEPHROLOGY
    60. Ezzeddine, H; Mounzer, A; Ksra, M; Morville, P
      Vertebral abnormalities and Williams' syndrome

      ARCHIVES DE PEDIATRIE
    61. Ollivier, AM
      Physician or seer? Very early diagnosis and anticipation. The example of William's syndrome

      ARCHIVES DE PEDIATRIE
    62. de Montgolfier-Aubron, I; Burglen, L; Chavet, MS; Tevissen, H; Perrot, C; Baudon, JJ; Gold, F
      Early digestive revelation of Williams-Beuren syndrome: a case report.

      ARCHIVES DE PEDIATRIE
    63. Fenster, SD; Chung, WJ; Zhai, R; Cases-Langhoff, C; Voss, B; Garner, AM; Kaempf, U; Kindler, S; Gundelfinger, ED; Garner, CC
      Piccolo, a presynaptic zinc finger protein structurally related to bassoon

      NEURON
    64. Rourke, BP
      Neuropsychological and psychosocial subtyping: A review of investigations within the University of Windsor Laboratory

      CANADIAN PSYCHOLOGY-PSYCHOLOGIE CANADIENNE
    65. Urban, Z; Michels, VV; Thibodeau, SN; Davis, EC; Bonnefont, JP; Munnich, A; Eyskens, B; Gewillig, M; Devriendt, K; Boyd, CD
      Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay

      HUMAN GENETICS
    66. Von Beust, G; Laccone, FA; Andrino, MD; Wessel, A
      Clinical symptoms and genetic analysis of Williams-Beuren syndrome.

      KLINISCHE PADIATRIE
    67. Bischoff, D; Fassbender, D; Piper, C; Hort, W; Korfer, R; Horstkotte, D
      Congenital, tubular, supravalvular aortic stenosis with massive coronary artery dilatation in a 35-year-old man

      ZEITSCHRIFT FUR KARDIOLOGIE
    68. Yan, XM; Zhao, XS; Qian, M; Guo, N; Gong, XH; Zhu, XL
      Characterization and gene structure of a novel retinoblastoma-protein-associated protein similar to the transcription regulator TFII-I

      BIOCHEMICAL JOURNAL
    69. Ortiz, PP; Sarrat, R; Daret, D; Whyte, J; Torres, A; Lamaziere, JMD
      Elastin variations implicating in vascular smooth muscle cells phenotype in human tortuous arteries

      HISTOLOGY AND HISTOPATHOLOGY
    70. Baron-Cohen, S; Ring, HA; Bullmore, ET; Wheelwright, S; Ashwin, C; Williams, SCR
      The amygdala theory of autism

      NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
    71. Fisch, GS
      Psychology genetics

      AMERICAN JOURNAL OF MEDICAL GENETICS
    72. Donnai, D; Karmiloff-Smith, A
      Williams syndrome: From genotype through to the cognitive phenotype

      AMERICAN JOURNAL OF MEDICAL GENETICS
    73. von Dadelszen, P; Chitayat, D; Winsor, EJT; Cohen, H; MacDonald, C; Taylor, G; Rose, T; Hornberger, LK
      De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    74. Alfimova, MV; Trubnikov, BI
      Genes basis of temperament and personality

      VOPROSY PSIKHOLOGII
    75. Vicari, S; Bellucci, S; Carlesimo, GA
      Implicit and explicit memory: a functional dissociation in persons with Down syndrome

      NEUROPSYCHOLOGIA
    76. Bayarsaihan, D; Ruddle, FH
      Isolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix-loop-helix domains

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    77. Stamm, C; Friehs, I; Moran, AM; Zurakowski, D; Bacha, E; Mayer, JE; Jonas, RA; del Nido, PJ
      Surgery for bilateral outflow tract obstruction in elastin arteriopathy

      JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
    78. Dykens, EM
      Annotation: Psychopathology in children with intellectual disability

      JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY AND ALLIED DISCIPLINES
    79. Hoogenraad, CC; Akhmanova, A; Grosveld, F; De Zeeuw, CI; Galjart, N
      Functional analysis of CLIP-115 and its binding to microtubules

      JOURNAL OF CELL SCIENCE
    80. Cheriyath, V; Roy, AL
      Alternatively spliced isoforms of TFII-I - Complex formation, nuclear translocation, and differential gene regulation

      JOURNAL OF BIOLOGICAL CHEMISTRY
    81. O'Reilly, MF; Lacey, C; Lancioni, GE
      Assessment of the influence of background noise on escape-maintained problem behavior and pain behavior in a child with Willlams syndrome

      JOURNAL OF APPLIED BEHAVIOR ANALYSIS
    82. Munn, K; Steward, R
      The shut-down gene of Drosophila melanogaster encodes a novel FK506-binding protein essential for the formation of germline cysts during oogenesis

      GENETICS
    83. Tager-Flusberg, H; Sullivan, K
      A componential view of theory of mind: evidence from Williams syndrome

      COGNITION
    84. Prasad, C; Prasad, AN; Chodirker, BN; Lee, C; Dawson, AK; Jocelyn, LJ; Chudley, AE
      Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype

      CLINICAL GENETICS
    85. Milewicz, DM; Seidman, CE
      Genetics of cardiovascular disease

      CIRCULATION
    86. Pinson, S; Guichard, C; Lenoir, D; El Zein, L; Nizard, P; Bozio, A; Bouvagnet, P
      Cardiogenetics in year 2000.

      ARCHIVES DES MALADIES DU COEUR ET DES VAISSEAUX
    87. Tani, LY; Minich, LL; Pagotto, LT; Shaddy, RE
      Usefulness of Doppler echocardiography to determine the liming of surgery for supravalvar aortic stenosis

      AMERICAN JOURNAL OF CARDIOLOGY
    88. Grillo, R; Petronzelli, F; Mora, B; Bonamico, M; Mazzilli, MC
      Search for coeliac disease susceptibility loci on 7q11.23 candidate region: Absence of association with the ELN17 microsatellite marker

      HUMAN HEREDITY
    89. Battin, J; Lacombe, D; Taine, L; Goizet, C
      Williams syndrome and behavioral phenotypes in human microdeletion syndromes

      BULLETIN DE L ACADEMIE NATIONALE DE MEDECINE
    90. Rhoads, AR; Karkera, JD; Detera-Wadleigh, SD
      Radiation hybrid mapping of genes in the lithium-sensitive Wnt signaling pathway

      MOLECULAR PSYCHIATRY
    91. Hagerman, RJ
      Psychopharmacological interventions in fragile X syndrome, fetal alcohol syndrome, Prader-Willi syndrome, Angelman syndrome, Smith-Magenis syndrome, and velocardiofacial syndrome

      MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS
    92. Kim, YM; Yoo, SJ; Choi, JY; Kim, SH; Bae, EJ; Lee, YT
      Natural course of supravalvar aortic stenosis and peripheral pulmonary arterial stenosis in Williams' syndrome

      CARDIOLOGY IN THE YOUNG
    93. Tassabehji, M; Carrette, M; Wilmot, C; Donnai, D; Read, AP; Metcalfe, K
      A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    94. Nakamura, M; Hara, K; Watamaki, T; Nishimura, B; Kumagai, T; Matsumoto, A; Miura, K; Yamanaka, T; Hayakawa, C; Miyazaki, S
      Difficulty in writing Japanese semantic characters in a 9-year-old boy with Williams syndrome

      JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
    95. Volterra, V; Longobardi, E; Pezzini, G; Vicari, S; Antenore, C
      Visuo-spatial and linguistic abilities in a twin with Williams syndrome

      JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
    96. Cherniske, EM; Sadler, LS; Schwartz, D; Carpenter, TO; Pober, BR
      Early puberty in Williams syndrome

      CLINICAL DYSMORPHOLOGY
    97. Bellugi, U; Adolphs, R; Cassady, C; Chiles, M
      Towards the neural basis for hypersociability in a genetic syndrome

      NEUROREPORT
    98. Rodd, C; Goodyer, P
      Hypercalcemia of the newborn: etiology, evaluation, and management

      PEDIATRIC NEPHROLOGY
    99. Bush, A
      Left bronchial isomerism, normal atrial arrangement and bronchomalacia mimicking asthma: a new syndrome?

      EUROPEAN RESPIRATORY JOURNAL
    100. Ito, T; Levenstein, ME; Fyodorov, DV; Kutach, AK; Kobayashi, R; Kadonaga, JT
      ACF consists of two subunits, Acf1 and ISWI, that function cooperatively in the ATP-dependent catalysis of chromatin assembly

      GENES & DEVELOPMENT


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Documento generato il 31/10/20 alle ore 02:58:46