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La ricerca find articoli where soggetti phrase all words 'HEMIZYGOSITY' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 78 riferimenti
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    1. Osborne, LR; Li, M; Pober, B; Chitayat, D; Bodurtha, J; Mandel, A; Costa, T; Grebe, T; Cox, S; Tsui, LC; Scherer, SW
      A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome

      NATURE GENETICS
    2. Roche, D; Hanna, WW; Ozias-Akins, P
      Is supernumerary chromatin involved in gametophytic apomixis of polyploid plants?

      SEXUAL PLANT REPRODUCTION
    3. Philip, N
      Molecular genetics of Williams syndrome

      ARCHIVES DE PEDIATRIE
    4. Sugaya, K; Sasanuma, S; Cook, PR; Mita, K
      A mutation in the largest (catalytic) subunit of RNA polymerase II and itsrelation to the arrest of the cell cycle in G(1) phase

      GENE
    5. 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
    6. Chilosi, A; Battaglia, A; Brizzolara, D; Cipriani, P; Pfanner, L; Carey, JC
      Del (9p) syndrome: Proposed behavior phenotype

      AMERICAN JOURNAL OF MEDICAL GENETICS
    7. Clahsen, H; Almazan, M
      Compounding and inflection in language impairment: Evidence from Williams Syndrome (and SLI)

      LINGUA
    8. Atkinson, J; Anker, S; Braddick, O; Nokes, L; Mason, A; Braddick, F
      Visual and visuospatial development in young children with Williams syndrome

      DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
    9. Schmitt, JE; Eliez, S; Warsofsky, IS; Bellugi, U; Reiss, AL
      Corpus callosum morphology of Williams syndrome: relation to genetics and behavior

      DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
    10. Schmitt, JE; Eliez, S; Bellugi, U; Reiss, AL
      Analysis of cerebral shape in Williams syndrome

      ARCHIVES OF NEUROLOGY
    11. Stiles, J; Sabbadini, L; Capirci, O; Volterra, V
      Drawing abilities in Williams Syndrome: A case study

      DEVELOPMENTAL NEUROPSYCHOLOGY
    12. Blau, N; Scherer-Oppliger, T; Baumer, A; Riegel, M; Matasovic, A; Schinzel, A; Jaeken, J; Thony, B
      Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS

      HUMAN MUTATION
    13. 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
    14. Martindale, DW; Wilson, MD; Wang, D; Burke, RD; Chen, XM; Duronio, V; Koop, BF
      Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human Chromosome 7q11.23

      MAMMALIAN GENOME
    15. Ollivier, AM
      Physician or seer? Very early diagnosis and anticipation. The example of William's syndrome

      ARCHIVES DE PEDIATRIE
    16. 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
    17. Korenberg, JR; Chen, XN; Hirota, H; Lai, Z; Bellugi, U; Burian, D; Roe, B; Matsuoka, R
      Genome structure and cognitive map of Williams syndrome

      JOURNAL OF COGNITIVE NEUROSCIENCE
    18. Urban, Z; Peyrol, S; Plauchu, H; Zabot, MT; Lebwohl, M; Schilling, K; Green, M; Boyd, CD; Csiszar, K
      Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotype

      PEDIATRIC DERMATOLOGY
    19. Guttler, F; Guldberg, P
      Mutation analysis anticipates dietary requirements in phenylketonuria

      EUROPEAN JOURNAL OF PEDIATRICS
    20. Von Beust, G; Laccone, FA; Andrino, MD; Wessel, A
      Clinical symptoms and genetic analysis of Williams-Beuren syndrome.

      KLINISCHE PADIATRIE
    21. Mervis, CB; Robinson, BF; Bertrand, J; Morris, CA; Klein-Tasman, BP; Armstrong, SC
      The Williams syndrome cognitive profile

      BRAIN AND COGNITION
    22. 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
    23. Donnai, D; Karmiloff-Smith, A
      Williams syndrome: From genotype through to the cognitive phenotype

      AMERICAN JOURNAL OF MEDICAL GENETICS
    24. Ogata, T; Muroya, K; Sasagawa, I; Kosho, T; Wakui, K; Sakazume, S; Ito, K; Matsuo, N; Ohashi, H; Nagai, T
      Genetic evidence for a novel gene(s) involved in urogenital development on10q26

      KIDNEY INTERNATIONAL
    25. Calamandrei, G; Alleva, E; Cirulli, F; Queyras, A; Volterra, V; Capirci, O; Vicari, S; Giannotti, A; Turrini, P; Aloe, L
      Serum NGF levels in children and adolescents with either Williams syndromeor Down syndrome

      DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
    26. Battin, J; Lacombe, D; Taine, L; Goizet, C
      Williams syndrome and behavioral phenotypes in human microdeletion syndromes

      BULLETIN DE L ACADEMIE NATIONALE DE MEDECINE
    27. Pezzini, G; Vicari, S; Volterra, V; Milani, L; Ossella, MT
      Children with Williams Syndrome: Is there a single neuropsychological profile?

      DEVELOPMENTAL NEUROPSYCHOLOGY
    28. Guttler, F; Guldberg, P; Eisensmith, RC; Woo, SLC
      Molecular genetics and outcome in PKU

      MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS
    29. Legoix, P; Legrand, MF; Ollagnon, E; Lenoir, G; Thomas, G; Zucman-Rossi, J
      Characterisation of 16 polymorphic markers in the NF2 gene: Application tohemizygosity detection

      HUMAN MUTATION
    30. 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
    31. 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
    32. Botta, A; Sangiuolo, F; Calza, L; Giardino, L; Potenza, S; Novelli, G; Dallapiccola, B
      Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome

      GENOMICS
    33. Hockenhull, EL; Carette, MJ; Metcalfe, K; Donnai, D; Read, AP; Tassabehji, M
      A complete physical contig and partial transcript map of the Williams syndrome critical region

      GENOMICS
    34. Osborne, LR; Campbell, T; Daradich, A; Scherer, SW; Tsui, LC
      Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome

      GENOMICS
    35. Moore, GE; Abu-Amero, S; Wakeling, E; Hitchins, M; Monk, D; Stanier, P; Preece, M
      The search for the gene for Silver-Russell syndrome

      ACTA PAEDIATRICA
    36. Cormier-Daire, V; Belin, V; Cusin, V; Viot, G; Girlich, D; Toutain, A; Moncla, A; Vekemans, M; Le Merrer, M; Munnich, A
      SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome

      ACTA PAEDIATRICA
    37. Wang, MS; Schinzel, A; Kotzot, D; Balmer, D; Casey, R; Chodirker, BN; Gyftodimou, J; Petersen, MB; Lopez-Rangel, E; Robinson, WP
      Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affectingclinical outcome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    38. Botta, A; Novelli, G; Mari, A; Novelli, A; Sabani, M; Korenberg, J; Osborne, LR; Digilio, MC; Giannotti, A; Dallapiccola, B
      Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes

      JOURNAL OF MEDICAL GENETICS
    39. Metcalfe, K
      Williams syndrome: an update on clinical and molecular aspects

      ARCHIVES OF DISEASE IN CHILDHOOD
    40. Mervis, CB; Robinson, BF; Pani, JR
      Visuospatial construction

      AMERICAN JOURNAL OF HUMAN GENETICS
    41. Kara-Mostefa, A; Raoul, O; Lyonnet, S; Amiel, J; Munnich, A; Vekemans, M; Magnier, S; Ossareh, B; Bonnefont, JP
      Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism

      AMERICAN JOURNAL OF HUMAN GENETICS
    42. MIZUGISHI K; YAMANAKA K; KUWAJIMA K; KONDO I
      INTERSTITIAL DELETION OF CHROMOSOME 7Q IN A PATIENT WITH WILLIAMS-SYNDROME AND INFANTILE SPASMS

      JOURNAL OF HUMAN GENETICS
    43. SOTILLO M; NAVARRO JF
      WILLIAMS-SYNDROME - PSYCHOBIOLOGICAL ASPECTS

      Psicologia conductual
    44. Tager-Flusberg, H; Boshart, J; Baron-Cohen, S
      Reading the windows to the soul: Evidence of domain-specific sparing in Williams syndrome

      JOURNAL OF COGNITIVE NEUROSCIENCE
    45. HOOGENRAAD GC; EUSSEN BHJ; LANGEVELD A; VANHAPEREN R; WINTERBERG S; WOUTERS CH; GROSVELD F; DEZEEUW CI; GALJART N
      THE MURINE CYLN2 GENE - GENOMIC ORGANIZATION, CHROMOSOME LOCALIZATION, AND COMPARISON TO THE HUMAN GENE THAT IS LOCATED WITHIN THE 7Q11.23 WILLIAMS-SYNDROME CRITICAL REGION

      Genomics (San Diego, Calif.)
    46. MENG X; LU XJ; MORRIS CA; KEATING MT
      NOVEL HUMAN GENE FKBP6 IS DELETED IN WILLIAMS-SYNDROME

      Genomics (San Diego, Calif.)
    47. WANG YK; PEREZJURADO LA; FRANCKE U
      A MOUSE SINGLE-COPY GENE, GTF2I, THE HOMOLOG OF HUMAN GTF2I, THAT IS DUPLICATED IN THE WILLIAMS-BEUREN-SYNDROME DELETION REGION

      Genomics
    48. Paperna, T; Peoples, R; Wang, YK; Kaplan, P; Francke, U
      Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2)are localized within the Williams-Beuren syndrome deletion

      GENOMICS
    49. Lu, XJ; Meng, X; Morris, CA; Keating, MT
      A novel human gene, WSTF, is deleted in Williams syndrome

      GENOMICS
    50. ELCIOGLU N; MACKIEOGILVIE C; DAKER M; BERRY AC
      FISH ANALYSIS IN PATIENTS WITH CLINICAL-DIAGNOSIS OF WILLIAMS-SYNDROME

      Acta paediatrica
    51. Jadayel, DM; Osborne, LR; Coignet, LJA; Zani, VJ; Tsui, LC; Scherer, SW; Dyer, MJS
      The BCL7 gene family: deletion of BCL7B in Williams syndrome

      GENE
    52. Meng, X; Lu, XJ; Li, ZZ; Green, ED; Massa, H; Trask, BJ; Morris, CA; Keating, MT
      Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes

      HUMAN GENETICS
    53. MORRIS CA
      GENETIC-ASPECTS OF SUPRAVALVULAR AORTIC-STENOSIS

      Current opinion in cardiology
    54. WU YQ; SUTTON VR; NICKERSON E; LUPSKI JR; POTOCKI L; KORENBERG JR; GREENBERG F; TASSABEHJI M; SHAFFER LG
      DELINEATION OF THE COMMON CRITICAL REGION IN WILLIAMS-SYNDROME AND CLINICAL CORRELATION OF GROWTH, HEART-DEFECTS, ETHNICITY, AND PARENTAL ORIGIN

      American journal of medical genetics
    55. Ounap, K; Laidre, P; Bartsch, O; Rein, R; Lipping-Sitska, M
      Familial Williams-Beuren syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    56. KARMILOFFSMITH A; TYLER LK; VOICE K; SIMS K; UDWIN O; HOWLIN P; DAVIES M
      LINGUISTIC DISSOCIATIONS IN WILLIAMS-SYNDROME - EVALUATING RECEPTIVE SYNTAX IN ONLINE AND OFF-LINE TASKS

      Neuropsychologia
    57. RAE C; KARMILOFFSMITH A; LEE MA; DIXON RM; GRANT J; BLAMIRE AM; THOMPSON CH; STYLES P; RADDA GK
      BRAIN BIOCHEMISTRY IN WILLIAMS-SYNDROME - EVIDENCE FOR A ROLE OF THE CEREBELLUM IN COGNITION

      Neurology
    58. ARENS R; WRIGHT B; ELLIOTT J; ZHAO HQ; WANG PP; BROWN LW; NAMEY T; KAPLAN P
      PERIODIC LIMB MOVEMENT IN SLEEP IN CHILDREN WITH WILLIAMS-SYNDROME

      The Journal of pediatrics
    59. KAPLAN AS; STALLINGS VA; ZEMEL BS; GREEN KA; KAPLAN P
      BODY-COMPOSITION, ENERGY-EXPENDITURE, AND ENERGY-INTAKE IN PATIENTS WITH WILLIAMS-SYNDROME

      The Journal of pediatrics
    60. JARROLD C; BADDELEY AD; HEWES AK
      VERBAL AND NONVERBAL ABILITIES IN THE WILLIAMS-SYNDROME PHENOTYPE - EVIDENCE FOR DIVERGING DEVELOPMENTAL TRAJECTORIES

      Journal of child psychology and psychiatry and allied disciplines
    61. DELRIO T; URBAN Z; CSISZAR K; BOYD CD
      A GENE-DOSAGE PCR METHOD FOR THE DETECTION OF ELASTIN GENE DELETIONS IN PATIENTS WITH WILLIAMS-SYNDROME

      Clinical genetics
    62. MARI A; AMATI F; CONTI E; BENGALA M; NOVELLI G; DALLAPICCOLA B
      A HIGHLY POLYMORPHIC CA GT REPEAT (LIMK1GT) WITHIN THE WILLIAMS-SYNDROME CRITICAL REGION/

      Clinical genetics
    63. KARMILOFFSMITH A
      CRUCIAL DIFFERENCES BETWEEN DEVELOPMENTAL COGNITIVE NEUROSCIENCE AND ADULT NEUROPSYCHOLOGY

      Developmental neuropsychology
    64. PANKAU R; PARTSCH CJ; GOSCH A; WINTER M; WESSEL A
      PICTURE OF THE MONTH - WILLIAMS-BEUREN SYNDROME

      Archives of pediatrics & adolescent medicine
    65. ABUAMERO S; PRICE S; WAKELING E; STANIER P; TREMBATH R; PREECE MA; MOORE GE
      LACK OF HEMIZYGOSITY FOR THE INSULIN-LIKE-GROWTH-FACTOR-I RECEPTOR GENE IN A QUANTITATIVE STUDY OF 33 SILVER-RUSSELL-SYNDROME PROBANDS AND THEIR FAMILIES

      European journal of human genetics
    66. HOU JW; WANG JK; WANG TR
      MICRODELETION OF CHROMOSOMAL REGION 7Q11.23 IN WILLIAMS-SYNDROME

      Journal of the Formosan Medical Association
    67. WEDEMEYER N; PEOPLES R; HIMMELBAUER H; LEHRACH H; FRANCKE U; WANKER EE
      LOCALIZATION OF THE HUMAN HIP1 GENE CLOSE TO THE ELASTIN (ELN) LOCUS ON 7Q11.23

      Genomics
    68. BRONDUMNIELSEN K; BECK B; GYFTODIMOU J; HORLYK H; LILJENBERG U; PETERSEN MB; PEDERSEN W; PETERSEN NB; SAND A; SKOVBY F; STAFANGER G; ZETTERQVIST P; TOMMERUP N
      INVESTIGATION OF DELETIONS AT 7Q11.23 IN 44 PATIENTS REFERRED FOR WILLIAMS-BEUREN SYNDROME, USING FISH AND 4 DNA POLYMORPHISMS

      Human genetics
    69. GOSCH A; PANKAU R
      PERSONALITY-CHARACTERISTICS AND BEHAVIOR PROBLEMS IN INDIVIDUALS OF DIFFERENT AGES WITH WILLIAMS-SYNDROME

      Developmental Medicine and Child Neurology
    70. TYLER LK; KARMILOFFSMITH A; VOICE JK; STEVENS T; GRANT J; UDWIN O; DAVIES M; HOWLIN P
      DO INDIVIDUALS WITH WILLIAMS-SYNDROME HAVE BIZARRE SEMANTICS - EVIDENCE FOR LEXICAL ORGANIZATION USING AN ONLINE TASK

      Cortex
    71. HOVIS CL; BUTLER MG
      PHOTOANTHROPOMETRIC STUDY OF CRANIOFACIAL TRAITS IN INDIVIDUALS WITH WILLIAMS-SYNDROME

      Clinical genetics
    72. POBER BR; DYKENS EM
      WILLIAMS-SYNDROME - AN OVERVIEW OF MEDICAL, COGNITIVE, AND BEHAVIORALFEATURES

      Child and adolescent psychiatric clinics of North America
    73. DUTLY F; SCHINZEL A
      UNEQUAL INTERCHROMOSOMAL REARRANGEMENTS MAY RESULT IN ELASTIN GENE DELETIONS CAUSING THE WILLIAMS-BEUREN SYNDROME

      Human molecular genetics
    74. OSBORNE LR; MARTINDALE D; SCHERER SW; SHI XM; HUIZENGA J; HENG HHQ; COSTA T; POBER B; LEW L; BRINKMAN J; ROMMENS J; KOOP B; TSUI LC
      IDENTIFICATION OF GENES FROM A 500-KB REGION AT 7Q11.23 THAT IS COMMONLY DELETED IN WILLIAMS-SYNDROME PATIENTS

      Genomics
    75. GIANNOTTI A; DALLAPICCOLA B
      THE WILLIAMS-SYNDROME - DELETION OF THE E LASTIN GENE AND CONTIGUOUS GENES

      Rivista italiana di pediatria
    76. HIROTA H; MATSUOKA R; KIMURA M; IMAMURA S; JOHO K; ANDO M; TAKAO A; MOMMA K
      MOLECULAR CYTOGENETIC DIAGNOSIS OF WILLIAMS-SYNDROME

      American journal of medical genetics
    77. JOYCE CA; ZORICH B; PIKE SJ; BARBER JCK; DENNIS NR
      WILLIAMS-BEUREN SYNDROME - PHENOTYPIC VARIABILITY AND DELETIONS OF CHROMOSOME-7, CHROMOSOME-11, AND CHROMOSOME-22 IN A SERIES OF 52 PATIENTS

      Journal of Medical Genetics
    78. JURADO LAP; PEOPLES R; KAPLAN P; HAMEL BCJ; FRANCKE U
      MOLECULAR DEFINITION OF THE CHROMOSOME-7 DELETION IN WILLIAMS-SYNDROME AND PARENT-OF-ORIGIN EFFECTS ON GROWTH

      American journal of human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/10/20 alle ore 19:28:17