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La ricerca find articoli where soggetti phrase all words 'Angelman syndrome' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 272 riferimenti
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    1. Nicholls, RD; Knepper, JL
      Genome organization, function and imprinting in Prader-Willi and Angelman syndromes

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    2. Luscher, B; Keller, CA
      Ubiquitination, proteasomes and GABA(A) receptors

      NATURE CELL BIOLOGY
    3. Dan, B; Bouillot, E; Bengoetxea, A; Boyd, SG; Cheron, G
      Distinct multi-joint control strategies in spastic diplegia associated with prematurity or Angelman syndrome

      CLINICAL NEUROPHYSIOLOGY
    4. Salpekar, A; Huntriss, J; Bolton, V; Monk, M
      The use of amplified cDNA to investigate the expression of seven imprintedgenes in human oocytes and preimplantation embryos

      MOLECULAR HUMAN REPRODUCTION
    5. Swinney, DC
      Targeting protein ubiquitination for drug discovery. What is in the drug discovery toolbox?

      DRUG DISCOVERY TODAY
    6. Wu, SS; French, SW; De Chadarevian, JP
      Hepatocellular ubiquitin expression in alpha(1)-antitrypsin deficiency

      PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
    7. Bressler, J; Tsai, TF; Wu, MY; Tsai, SF; Ramirez, MA; Armstrong, D; Beaudet, AL
      The SNRPN promoter is not required for genomic imprinting of the PraderWilli/Angelman domain in mice

      NATURE GENETICS
    8. Baumer, A; Wiedemann, U; Hergersberg, M; Schinzel, A
      A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicism

      HUMAN MUTATION
    9. Runte, M; Farber, C; Lich, C; Zeschnigk, M; Buchholz, T; Smith, A; Van Maldergem, L; Burger, J; Muscatelli, F; Gillessen-Kaesbach, G; Horsthemke, B; Buiting, K
      Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15

      EUROPEAN JOURNAL OF HUMAN GENETICS
    10. Hitchins, MP; Monk, D; Bell, GM; Ali, Z; Preece, MA; Stanier, P; Moore, GE
      Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB70 in Silver-Russell syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    11. Fulmer-Smentek, SB; Francke, U
      Association of acetylated histones with paternally expressed genes in the Prader-Willi deletion region

      HUMAN MOLECULAR GENETICS
    12. Meguro, M; Mitsuya, K; Nomura, N; Kohda, M; Kashiwagi, A; Nishigaki, R; Yoshioka, H; Nakao, M; Oishi, M; Oshimura, M
      Large-scale evaluation of imprinting status in the Prader-Willi syndrome region: an imprinted direct repeat cluster resembling small nucleolar RNA genes

      HUMAN MOLECULAR GENETICS
    13. Runte, M; Huttenhofer, A; Gross, S; Kiefmann, M; Horsthemke, B; Buiting, K
      The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A

      HUMAN MOLECULAR GENETICS
    14. Kurihara, LJ; Kikuchi, T; Wada, K; Tilghman, SM
      Loss of Uch-L1 and Uch-L3 leads to neurodegeneration, posterior paralysis and dysphagia

      HUMAN MOLECULAR GENETICS
    15. Fox, R; Yang, GS; Feurer, ID; Butler, MG; Thompson, T
      Kinetic form discrimination in Prader-Willi syndrome

      JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
    16. Tanaka, K; Suzuki, T; Chiba, T; Shimura, H; Hattori, N; Mizuno, Y
      Parkin is linked to the ubiquitin pathway

      JOURNAL OF MOLECULAR MEDICINE-JMM
    17. Choi, JD; Underkoffler, LA; Collins, JN; Marchegiani, SM; Terry, NA; Beechey, CV; Oakey, RJ
      Microarray expression profiling of tissues from mice with uniparental duplications of Chromosomes 7 and 11 to identify imprinted genes

      MAMMALIAN GENOME
    18. Hodapp, RM; Dykens, EM
      Strengthening behavioral research on genetic mental retardation syndromes

      AMERICAN JOURNAL ON MENTAL RETARDATION
    19. Brilliant, MH
      The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH

      PIGMENT CELL RESEARCH
    20. 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
    21. Chamberlain, SJ; Brannan, CI
      The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a

      GENOMICS
    22. Schulze, A; Mogensen, H; Hamborg-Petersen, B; Graem, N; Ostergaard, JR; Brondum-Nielsen, K
      Fertility in Prader-Willi syndrome: a case report with Angelman syndrome in the offspring

      ACTA PAEDIATRICA
    23. Davies, W; Isles, AR; Wilkinson, LS
      Imprinted genes and mental dysfunction

      ANNALS OF MEDICINE
    24. Zankl, A; Addor, MC; Maeder-Ingvar, M; Schorderet, DF
      A characteristic EEG pattern in 4p-syndrome: case report and review of theliterature

      EUROPEAN JOURNAL OF PEDIATRICS
    25. Ojeda, SR; Heger, S
      New thoughts on female precocious puberty

      JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
    26. Feusner, J; Ritchie, T; Lawford, B; Young, RM; Kann, B; Noble, EP
      GABA(A) receptor beta 3 subunit gene and psychiatric morbidity in a post-traumatic stress disorder population

      PSYCHIATRY RESEARCH
    27. Schinzel, A; Niedrist, D
      Chromosome imbalances associated with epilepsy

      AMERICAN JOURNAL OF MEDICAL GENETICS
    28. Torrisi, L; Sangiorgi, E; Russo, L; Gurrieri, F
      Rearrangements of chromosome 15 in epilepsy

      AMERICAN JOURNAL OF MEDICAL GENETICS
    29. Joseph, B; Egli, M; Sutcliffe, JS; Thompson, T
      Possible dosage effect of maternally expressed genes on visual recognitionmemory in Prader-Willi syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    30. Williams, CA; Lossie, A; Driscoll, D
      Angelman syndrome: Mimicking conditions and phenotypes

      AMERICAN JOURNAL OF MEDICAL GENETICS
    31. Manning, M; Lissens, W; Liebaers, I; Van Steirteghem, A; Weidner, W
      Imprinting analysis in spermatozoa prepared for intracytoplasmic sperm injection (ICSI)

      INTERNATIONAL JOURNAL OF ANDROLOGY
    32. Santa Maria, LS; Curotto, B; Cortes, F; Rojas, C; Alliende, MA
      Methylation, cytogenetic and FISH tests in the molecular diagnosis of Prader-Willi and Angelman syndromes

      REVISTA MEDICA DE CHILE
    33. Paulsen, M; Ferguson-Smith, AC
      DNA methylation in genomic imprinting, development, and disease

      JOURNAL OF PATHOLOGY
    34. Kotzot, D
      Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements

      JOURNAL OF MEDICAL GENETICS
    35. Rossi, E; Piccini, F; Zollino, M; Neri, G; Caselli, D; Tenconi, R; Castellan, C; Carrozzo, R; Danesino, C; Zuffardi, O; Ragusa, A; Castiglia, L; Galesi, O; Greco, D; Romano, C; Pierluigi, M; Perfumo, C; Di Rocco, M; Faravelli, F; Bricarelli, FD; Bonaglia, M; Bedeschi, M; Borgatti, R
      Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

      JOURNAL OF MEDICAL GENETICS
    36. Watson, P; Black, G; Ramsden, S; Barrow, M; Super, M; Kerr, B; Clayton-Smith, J
      Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein

      JOURNAL OF MEDICAL GENETICS
    37. Hannula, K; Kere, J; Pirinen, S; Holmberg, C; Lipsanen-Nyman, M
      Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?

      JOURNAL OF MEDICAL GENETICS
    38. Imessaoudene, B; Bonnefont, JP; Royer, G; Cormier-Daire, V; Lyonnet, S; Lyon, G; Munnich, A; Amiel, J
      MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

      JOURNAL OF MEDICAL GENETICS
    39. Ungaro, P; Christian, SL; Fantes, JA; Mutirangura, A; Black, S; Reynolds, J; Malcolm, S; Dobyns, WB; Ledbetter, DH
      Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14

      JOURNAL OF MEDICAL GENETICS
    40. Noebels, JL
      Modeling human epilepsies in mice

      EPILEPSIA
    41. Elia, M; Musumeci, SA; Ferri, R; Ayala, GF
      Chromosome abnormalities and epilepsy

      EPILEPSIA
    42. Hanel, ML; Wevrick, R
      The role of genomic imprinting in human developmental disorders: lessons from Prader-Willi syndrome

      CLINICAL GENETICS
    43. Eliez, S; Antonarakis, SE; Morris, MA; Dahoun, SP; Reiss, AL
      Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome - A preliminary study

      ARCHIVES OF GENERAL PSYCHIATRY
    44. Xin, ZH; Allis, CD; Wagstaff, J
      Parent-specific complementary patterns of histone H3 lysine 9 and H3 lysine 4 methylation at the Prader-Willi syndrome imprinting center

      AMERICAN JOURNAL OF HUMAN GENETICS
    45. Herzing, LBK; Kim, SJ; Cook, EH; Ledbetter, DH
      The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression

      AMERICAN JOURNAL OF HUMAN GENETICS
    46. Isles, AR; Wilkinson, LS
      Imprinted genes, cognition and behaviour

      TRENDS IN COGNITIVE SCIENCES
    47. Manning, M; Lissens, W; Bonduelle, M; Camus, M; De Rijcke, M; Liebaers, I; Van Steirteghem, A
      Study of DNA-methylation patterns at chromosome 15q11-q13 in children bornafter ICSI reveals no imprinting defects

      MOLECULAR HUMAN REPRODUCTION
    48. Hoban, TF
      Sleeplessness in children with neurodevelopmental disorders - Epidemiologyand management

      CNS DRUGS
    49. Mao, R; Jalal, SM; Snow, K; Michels, VV; Szabo, SM; Babovic-Vuksanovic, D
      Characteristics of two cases with dup(15)(q11.2-q12): one of maternal and one of paternal origin

      GENETICS IN MEDICINE
    50. Vu, PK; Sakamoto, KM
      Ubiquitin-mediated proteolysis and human disease

      MOLECULAR GENETICS AND METABOLISM
    51. Velinov, M; Gu, H; Genovese, M; Duncan, C; Brown, WT; Jenkins, E
      The feasibility of PCR-based diagnosis of Prader-Willi and Angelman syndromes using restriction analysis after bisulfite modification of genomic DNA

      MOLECULAR GENETICS AND METABOLISM
    52. Ji, YG; Rebert, NA; Joslin, JM; Higgins, MJ; Schultz, RA; Nicholls, RD
      Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human

      GENOME RESEARCH
    53. Buller, A; Pandya, A; Jackson-Cook, C; Bodurtha, J; Tekin, M; Wilkinson, DS; Garrett, CT; Ferreira-Gonzalez, A
      Validation of a multiplex methylation-sensitive PCR assay for the diagnosis of Prader-Willi and Angelman's syndromes

      MOLECULAR DIAGNOSIS
    54. Stafstrom, CE; Tempel, BL
      Epilepsy genes: The link between molecular dysfunction and pathophysiology

      MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS
    55. Dimitropoulos, A; Feurer, ID; Roof, E; Stone, W; Butler, MG; Sutcliffe, J; Thompson, T
      Appetitive behavior compulsivity, and neurochemistry in Prader-Willi syndrome

      MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS
    56. Grosso, S; Anichini, C; Berardi, R; Balestri, P; Pucci, L; Morgese, G
      Central precocious puberty and abnormal chromosomal patterns

      ENDOCRINE PATHOLOGY
    57. Van Buggenhout, GJCM; Descheemaeker, MJ; Thiry, P; Trommelen, JCM; Hamel, BCJ; Fryns, JP
      Angelman syndrome in three adult patients with atypical presentation and severe neurological complications

      GENETIC COUNSELING
    58. Lamb, JA; Moore, J; Bailey, A; Monaco, AP
      Autism: recent molecular genetic advances

      HUMAN MOLECULAR GENETICS
    59. Ben-Porath, I; Cedar, H
      Imprinting: focusing on the center

      CURRENT OPINION IN GENETICS & DEVELOPMENT
    60. Sohal, VS; Huntsman, MM; Huguenard, JR
      Reciprocal inhibitory connections produce desynchronizing phase lags during intrathalamic oscillations

      NEUROCOMPUTING
    61. Clarke, DJ; Marston, G
      Problem behaviors associated with 15q-Angelman syndrome

      AMERICAN JOURNAL ON MENTAL RETARDATION
    62. Saitoh, Y; Miyamoto, N; Okada, T; Gondo, Y; Showguchi-Miyata, J; Hadano, S; Ikeda, JE
      The RS447 human megasatellite tandem repetitive sequence encodes a novel deubiquitinating enzyme with a functional promoter

      GENOMICS
    63. Farber, C; Gross, S; Neesen, J; Buiting, K; Horsthemke, B
      Identification of a testis-specific gene (C15orf2) in the Prader-Willi syndrome region on chromosome 15

      GENOMICS
    64. Buoni, S; Sorrentino, L; Farnetani, MA; Pucci, L; Fois, A
      The syndrome of inv dup (15): Clinical, electroencephalographic, and imaging findings

      JOURNAL OF CHILD NEUROLOGY
    65. Nakagawa, S; Huibregtse, JM
      Human scribble (Vartul) is targeted for ubiquitin-mediated degradation by the high-risk papillomavirus E6 proteins and the E6AP ubiquitin-protein ligase

      MOLECULAR AND CELLULAR BIOLOGY
    66. Kwon, YT; Balogh, SA; Davydov, IV; Kashina, AS; Yoon, JK; Xie, YM; Gaur, A; Hyde, L; Denenberg, VH; Varshavsky, A
      Altered activity, social behavior, and spatial memory in mice lacking the NTAN1p amidase and the asparagine branch of the N-end rule pathway

      MOLECULAR AND CELLULAR BIOLOGY
    67. Sohal, VS; Huntsman, MM; Huguenard, JR
      Reciprocal inhibitory connections regulate the spatiotemporal properties of intrathalamic oscillations

      JOURNAL OF NEUROSCIENCE
    68. Glenn, CC; Deng, G; Michaelis, RC; Tarleton, J; Phelan, MC; Surh, L; Yang, TP; Driscoll, DJ
      DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting

      PRENATAL DIAGNOSIS
    69. Cassidy, SB; Dykens, E; Williams, CA
      Prader-Willi and Angelman Syndromes: Sister imprinted disorders

      AMERICAN JOURNAL OF MEDICAL GENETICS
    70. Wolpert, CM; Menold, MM; Bass, MP; Qumsiyeh, MB; Donnelly, SL; Ravan, SA; Vance, JM; Gilbert, JR; Abramson, RK; Wright, HH; Cuccaro, ML; Pericak-Vance, MA
      Three probands with autistic disorder and isodicentric chromosome 15

      AMERICAN JOURNAL OF MEDICAL GENETICS
    71. Ginsburg, C; Fokstuen, S; Schinzel, B
      The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age

      AMERICAN JOURNAL OF MEDICAL GENETICS
    72. Tekin, M; Jackson-Cook, C; Buller, A; Ferreira-Gonzalez, A; Pandya, A; Garrett, CT; Bodurtha, J
      Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome with biparental methylation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    73. Fridman, C; Koiffmann, CP
      Origin of uniparental disomy 15 in patients with Prader-Willi or Angelman syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    74. Fridman, C; Varela, MC; Kok, F; Diament, A; Koiffmann, CP
      Paternal UPD15: Further genetic and clinical studies in four Angelman syndrome patients

      AMERICAN JOURNAL OF MEDICAL GENETICS
    75. Nicholls, RD
      Mosaicism in Prader-Willi syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    76. Gilchrist, D; Glerum, DM; Wevrick, R
      Deconstructing Mendel: new paradigms in genetic mechanisms

      CLINICAL AND INVESTIGATIVE MEDICINE-MEDECINE CLINIQUE ET EXPERIMENTALE
    77. Murphy, SK; Jirtle, RL
      Imprinted genes as potential genetic and epigenetic toxicologic targets

      ENVIRONMENTAL HEALTH PERSPECTIVES
    78. Rowan, BG; O'Malley, BW
      Progesterone receptor coactivators

      STEROIDS
    79. Franz, DN; Glauser, TA; Tudor, C; Williams, S
      Topiramate therapy of epilepsy associated with Angelman's syndrome

      NEUROLOGY
    80. Lerch, N; Bosch, N; Muller, H; Malik, NJ
      Molecular genetic diagnosis of Prader-Willi and Angelman syndrome using a methylation-specific polymerase chain reaction

      MONATSSCHRIFT KINDERHEILKUNDE
    81. Nemtsova, MV
      Genomic imprinting and human hereditary disorders

      MOLECULAR BIOLOGY
    82. Xiang, FQ; Buervenich, S; Nicolao, P; Bailey, MES; Zhang, ZP; Anvret, M
      Mutation screening in Rett syndrome patients

      JOURNAL OF MEDICAL GENETICS
    83. Maiwald, R; Overhauser, J; Laccone, F
      No evidence for imprinting in distal 18q

      JOURNAL OF MEDICAL GENETICS
    84. McEntagart, ME; Webb, T; Hardy, C; King, MD
      Familial Prader-Willi syndrome: Case report and a literature review

      CLINICAL GENETICS
    85. Robinson, WP; Christian, SL; Kuchinka, BD; Penaherrera, S; Das, S; Schuffenhauer, S; Malcolm, S; Schinzel, AA; Hassold, TJ; Ledbetter, DH
      Somatic segregation errors predominantly contribute to the gain or loss ofa paternal chromosome leading to uniparental disomy for chromosome 15

      CLINICAL GENETICS
    86. Wandstrat, AE; Schwartz, S
      Isolation and molecular analysis of inv dup(15) and construction of a physical map of a common breakpoint in order to elucidate their mechanism of formation

      CHROMOSOMA
    87. de los Santos, T; Schweizer, J; Rees, CA; Francke, U
      Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which is highly expressed in brain

      AMERICAN JOURNAL OF HUMAN GENETICS
    88. Pfeifer, K
      Mechanisms of genomic imprinting

      AMERICAN JOURNAL OF HUMAN GENETICS
    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. Veenstra-VanderWeele, J; Gonen, D; Leventhal, BL; Cook, EH
      Mutation screening of the UBE3A/E6-AP gene in autistic disorder

      MOLECULAR PSYCHIATRY
    91. Lossie, AC; Driscoll, DJ
      Transmission of Angelman syndrome by an affected mother

      GENETICS IN MEDICINE
    92. 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
    93. Baldini, A
      Is the genetic basis of DiGeorge syndrome in HAND?

      NATURE GENETICS
    94. Kato, GJ
      Human genetic diseases of proteolysis

      HUMAN MUTATION
    95. Dan, B; Christiaens, F
      Dopey's seizure

      SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
    96. Gillessen-Kaesbach, G; Demuth, S; Thiele, H; Theile, U; Lich, C; Horsthemke, B
      A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect

      EUROPEAN JOURNAL OF HUMAN GENETICS
    97. Moncla, A; Malzac, P; Voelckel, MA; Auquier, P; Girardot, L; Mattei, MG; Philip, N; Mattei, JF; Lalande, M; Livet, MO
      Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelmansyndrome patients

      EUROPEAN JOURNAL OF HUMAN GENETICS
    98. Christian, SL; Fantes, JA; Mewborn, SK; Huang, B; Ledbetter, DH
      Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13)

      HUMAN MOLECULAR GENETICS
    99. Jong, MTC; Gray, TA; Ji, YG; Glenn, CC; Saitoh, S; Driscoll, DJ; Nicholls, RD
      A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region

      HUMAN MOLECULAR GENETICS
    100. Jong, MTC; Carey, AH; Caldwell, KA; Lau, MH; Handel, MA; Driscoll, DJ; Stewart, CL; Rinchik, EM; Nicholls, RD
      Imprinting of a RING zinc-finger encoding gene in the mouse chromosome region homologous to the Prader-Willi syndrome genetic region

      HUMAN MOLECULAR GENETICS


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Documento generato il 19/02/20 alle ore 22:34:09