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La ricerca find articoli where soggetti phrase all words 'PRADER-WILLI-SYNDROME' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 613 riferimenti
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    1. Gozal, D
      Central chemoreceptor function in children

      PEDIATRIC PULMONOLOGY
    2. Gaultier, C
      Abnormalities of the chemical control of breathing: Clinical correlates ininfants and children

      PEDIATRIC PULMONOLOGY
    3. Barrett, TG
      Mitochondrial diabetes, DIDMOAD and other inherited diabetes syndromes

      BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
    4. Reik, W; Walter, J
      Genomic imprinting: Parental influence on the genome

      NATURE REVIEWS GENETICS
    5. Inoue, J; Mitsuya, K; Maegawa, S; Kugoh, H; Kadota, M; Okamura, D; Shinohara, T; Nishihara, S; Takehara, S; Yamauchi, K; Schulz, TC; Oshimura, M
      Construction of 700 human/mouse A9 monochromosomal hybrids and analysis ofimprinted genes on human chromosome 6

      JOURNAL OF HUMAN GENETICS
    6. 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
    7. Evenhuis, H; Henderson, CM; Beange, H; Lennox, N; Chicoine, B
      Healthy ageing - Adults with intellectual disabilities: Physical health issues

      JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
    8. Hershko, AY; Finberg, Y; Kantor, B; Shemer, R; Razin, A
      The mouse Snrpn minimal promoter and its human orthologue: activity and imprinting

      GENES TO CELLS
    9. Schroeder, SR; Oster-Granite, ML; Berkson, G; Bodfish, JW; Breese, GR; Cataldo, MF; Cook, EH; Crnic, LS; DeLeon, I; Fisher, W; Harris, JC; Horner, RH; Iwata, B; Jinnah, HA; King, BH; Lauder, JM; Lewis, MH; Newell, K; Nyhan, WL; Rojahn, J; Sackett, GP; Sandman, C; Symons, F; Tessel, RE; Thompson, T; Wong, DF
      Self-injurious behavior: Gene-brain-behavior relationships

      MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS
    10. Marcus, CL
      Sleep-disordered breathing in children

      AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
    11. Perusse, L; Chagnon, YC; Weisnagel, SJ; Rankinen, T; Snyder, E; Sands, J; Bouchard, C
      The human obesity gene map: The 2000 update

      OBESITY RESEARCH
    12. 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
    13. 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
    14. Carrel, AL; Allen, DB
      Beyond height: Effects of growth hormone on body composition and physical function in children

      ENDOCRINOLOGIST
    15. Bussey, KJ; Lawce, HJ; Himoe, E; Shu, XO; Heerema, NA; Perlman, EJ; Olson, SB; Magenis, RE
      SNRPN methylation patterns in germ cell tumors as a reflection of primordial germ cell development

      GENES CHROMOSOMES & CANCER
    16. Hellings, JA; Zarcone, JR; Crandall, K; Wallace, D; Schroeder, SR
      Weight gain in a controlled study of risperidone in children, adolescents and adults with mental retardation and autism

      JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY
    17. 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
    18. Lukusa, T; Willekens, D; Lukusa, N; De Cock, P; Fryns, JP
      Terminal 6q25.3 deletion and abnormal behaviour

      GENETIC COUNSELING
    19. Wirth, J; Back, E; Huttenhofer, A; Nothwang, HG; Lich, C; Gross, S; Menzel, C; Schinzel, A; Kioschis, P; Tommerup, N; Ropers, HH; Horsthemke, B; Buiting, K
      A translocation breakpoint cluster disrupts the newly defined 3 ' end of the SNURF-SNRPN transcription unit on chromosome 15

      HUMAN MOLECULAR GENETICS
    20. 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
    21. Naf, D; Wilson, LA; Bergstrom, RA; Smith, RS; Goodwin, NC; Verkerk, A; van Ommen, GJ; Ackerman, SL; Frankel, WN; Schimenti, JC
      Mouse models for the Wolf-Hirschhorn deletion syndrome

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

      JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
    23. Lammer, EJ; Punglia, DR; Fuchs, AE; Rowe, AG; Cotter, PD
      Inherited duplication of Xq27.2 -> qter: phenocopy of infantile Prader-Willi syndrome

      CLINICAL DYSMORPHOLOGY
    24. Marinari, GM; Camerini, G; Novelli, GB; Papadia, F; Murelli, F; Marini, P; Adami, GF; Scopinaro, N
      Outcome of biliopancreatic diversion in subjects with Prader-Willi syndrome

      OBESITY SURGERY
    25. Mikhail, AG; King, BH
      Self-injurious behavior in mental retardation

      CURRENT OPINION IN PSYCHIATRY
    26. Grosso, S; Balestri, P; Anichini, C; Bartalini, G; Pucci, L; Morgese, G; Berardi, R
      Pubertal disorders in inv dup(15) syndrome

      GYNECOLOGICAL ENDOCRINOLOGY
    27. Campeotto, F; Naudin, C; Viot, G; Dupont, C
      Rectal bleeding and rectal picking in Prader-Willi syndrome

      ARCHIVES DE PEDIATRIE
    28. Kohda, M; Hoshiya, H; Katoh, M; Tanaka, I; Masuda, R; Takemura, T; Fujiwara, M; Oshimura, M
      Frequent loss of imprinting of IGF2 and MEST in lung adenocarcinoma

      MOLECULAR CARCINOGENESIS
    29. Symons, FJ; Sutton, KA; Bodfish, JW
      Preliminary study of altered skin temperature at body sites associated with self-injurious behavior in adults who have developmental disabilities

      AMERICAN JOURNAL ON MENTAL RETARDATION
    30. Hodapp, RM; Dykens, EM
      Strengthening behavioral research on genetic mental retardation syndromes

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

      PIGMENT CELL RESEARCH
    32. Didden, R; Sigafoos, J
      A review of the nature and treatment of sleep disorders in individuals with developmental disabilities

      RESEARCH IN DEVELOPMENTAL DISABILITIES
    33. Zwart, R; Sleutels, F; Wutz, A; Schinkel, AH; Barlow, DP
      Bidirectional action of the Igf2r imprint control element on upstream and downstream imprinted genes

      GENES & DEVELOPMENT
    34. 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
    35. 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
    36. Davies, W; Isles, AR; Wilkinson, LS
      Imprinted genes and mental dysfunction

      ANNALS OF MEDICINE
    37. Overeem, S; Mignot, E; van Dijk, JG; Lammers, GJ
      Narcolepsy: Clinical features, new pathophysiologic insights, and future perspectives

      JOURNAL OF CLINICAL NEUROPHYSIOLOGY
    38. Malaspina, D
      Paternal factors and schizophrenia risk: De novo mutations and imprinting

      SCHIZOPHRENIA BULLETIN
    39. Grugni, G; Guzzaloni, G; Morabito, F
      Impairment of GH responsiveness to GH-releasing hexapeptide (GHRP-6) in Prader-Willi syndrome

      JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
    40. Matsumoto, K; Taniura, H; Uetsuki, T; Yoshikawa, K
      Necdin acts as a transcriptional repressor that interacts with multiple guanosine clusters

      GENE
    41. Balmer, D; LaSalle, JM
      Clonal maintenance of imprinted expression of SNRPN and IPW in normal lymphocytes: correlation with allele-specific methylation of SNRPN intron 1 butnot intron 7

      HUMAN GENETICS
    42. Carrel, AL; Myers, SE; Whitman, BY; Allen, DB
      Sustained benefits of growth hormone on body composition, fat utilization,physical strength and agility, and growth in Prader-Willi syndrome are dose-dependent

      JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
    43. Oeffner, F; Korn, T; Roth, H; Ziegler, A; Hinney, A; Goldschmidt, H; Siegfried, W; Hebebrand, J; Grzeschik, KH
      Systematic screening for mutations in the human necdin gene (NDN): identification of two naturally occurring polymorphisms and association analysis in body weight regulation

      INTERNATIONAL JOURNAL OF OBESITY
    44. Zadik, Z; Wittenberg, I; Segal, N; Altman, Y; Zung, A; Gross, V; Reifen, R
      Interrelationship between insulin, leptin and growth hormone in growth hormone-treated children

      INTERNATIONAL JOURNAL OF OBESITY
    45. Hauffa, BP; Schlippe, G; Gillessen-Kaesbach, G
      Adiposity indices in German children and adolescents with genetically confirmed Prader-Willi syndrome (PWS)

      INTERNATIONAL JOURNAL OF OBESITY
    46. Monk, M; Salpekar, A
      Expression of imprinted genes in human preimplantation development

      MOLECULAR AND CELLULAR ENDOCRINOLOGY
    47. Kelly, M; Edgar, AJ; Wevrick, R
      Analysis of DEXI/Dexi refines the organization of the mouse 7C and human 15q11 -> q13 imprinting clusters

      CYTOGENETICS AND CELL GENETICS
    48. Rittinger, O
      Clinical features and genetic analysis of Prader-Willi Syndrome

      KLINISCHE PADIATRIE
    49. Counts, D
      An adult with Prader-Willi syndrome and anorexia nervosa: A case report

      INTERNATIONAL JOURNAL OF EATING DISORDERS
    50. Kohn, Y; Weizman, A; Apter, A
      Aggravation of food-related behavior in an adolescent with Prader-Willi syndrome treated with fluvoxamine amd fluoxetine

      INTERNATIONAL JOURNAL OF EATING DISORDERS
    51. Hanel, ML; Wevrick, R
      Establishment and maintenance of DNA methylation patterns in mouse Ndn: Implications for maintenance of imprinting in target genes of the imprinting center

      MOLECULAR AND CELLULAR BIOLOGY
    52. Gregory, RI; Randall, TE; Johnson, CA; Khosla, S; Hatada, I; O'Neill, LP; Turner, BM; Feil, R
      DNA methylation is linked to deacetylation of histone H3, but not H4, on the imprinted genes Snrpn and U2af1-rs1

      MOLECULAR AND CELLULAR BIOLOGY
    53. Drake, WM; Howell, SJ; Monson, JP; Shalet, SM
      Optimizing GH therapy in adults and children

      ENDOCRINE REVIEWS
    54. Torrisi, L; Sangiorgi, E; Russo, L; Gurrieri, F
      Rearrangements of chromosome 15 in epilepsy

      AMERICAN JOURNAL OF MEDICAL GENETICS
    55. Xu, JZ; Pato, MT; Dalla Torre, C; Medeiros, H; Carvalho, C; Basile, VS; Bauer, A; Dourado, A; Valente, J; Soares, MJ; Macedo, AA; Coelho, I; Ferreira, CP; Azevedo, MH; Macciardi, F; Kennedy, JL; Pato, CN
      Evidence for linkage disequilibrium between the alpha 7-nicotinic receptorgene (CHRNA7) locus and schizophrenia in Azorean families

      AMERICAN JOURNAL OF MEDICAL GENETICS
    56. 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
    57. Shim, SH; Lee, CH; Park, YJ; Lee, HJ; Park, WI; Cho, YH
      Two inv dup(15) chromosomes in a woman with repeated abortions

      AMERICAN JOURNAL OF MEDICAL GENETICS
    58. Butler, MG; Haber, L; Mernaugh, R; Carlson, MG; Price, R; Feurer, ID
      Decreased bone mineral density in Prader-Willi syndrome: Comparison with obese subjects

      AMERICAN JOURNAL OF MEDICAL GENETICS
    59. Stoll, C
      Problems in the diagnosis of fragile X syndrome in young children are still present

      AMERICAN JOURNAL OF MEDICAL GENETICS
    60. Jobling, A
      Beyond sex and cooking: Health education for individuals with intellectualdisability

      MENTAL RETARDATION
    61. Billiard, M; Ondze, B
      Disorders of awakening. Second part.

      REVUE NEUROLOGIQUE
    62. 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
    63. Youlton, R
      Use of growth hormone in Prader-Willi syndrome. Report of two cases

      REVISTA MEDICA DE CHILE
    64. Keuthen, NJ; Deckersbach, T; Wilhelm, S; Engelhard, I; Forker, A; O'Sullivan, RL; Jenike, MA; Baer, L
      The Skin Picking Impact Scale (SPIS) - Scale development and psychometric analyses

      PSYCHOSOMATICS
    65. Gunay-Aygun, M; Schwartz, S; Heeger, S; O'Riordan, MA; Cassidy, SB
      The changing purpose of Prader-Willi syndrome clinical diagnostic criteriaand proposed revised criteria

      PEDIATRICS
    66. Gitterman, BA; Bearer, CF
      A developmental approach to pediatric environmental health

      PEDIATRIC CLINICS OF NORTH AMERICA
    67. Paulsen, M; Ferguson-Smith, AC
      DNA methylation in genomic imprinting, development, and disease

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

      JOURNAL OF MEDICAL GENETICS
    69. 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
    70. Dykens, EM; Hodapp, RM
      Research in mental retardation: Toward an etiologic approach

      JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY AND ALLIED DISCIPLINES
    71. Forslund, KO; Nordqvist, K
      The melanoma antigen genes - Any clues to their functions in normal tissues?

      EXPERIMENTAL CELL RESEARCH
    72. O'Brien, G; Pearson, J; Berney, T; Barnard, L
      Measuring behaviour in developmental disability: a review of existing schedules

      DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
    73. Hanel, ML; Wevrick, R
      The role of genomic imprinting in human developmental disorders: lessons from Prader-Willi syndrome

      CLINICAL GENETICS
    74. Sakatani, T; Wei, M; Katoh, M; Okita, C; Wada, D; Mitsuya, K; Meguro, M; Ikeguchi, M; Ito, H; Tycko, B; Oshimura, M
      Epigenetic heterogeneity at imprinted loci in normal populations

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    75. van Mil, EGAH; Westerterp, KR; Kester, ADM; Saris, WHM
      Energy metabolism in relation to body composition and gender in adolescents

      ARCHIVES OF DISEASE IN CHILDHOOD
    76. Gerard-Blanluet, M; Elbez, A; Bazin, A; Danan, C; Verloes, A; Janaud, JC
      Mosaic trisomy 15 and hemihypertrophy

      ANNALES DE GENETIQUE
    77. Odent, S; Taque, S; Lucas, J; Le Mee, F; Le Marec, B
      Prader-Willi syndrome and polygonosomal abnormalities in males: about a Prader-Willi/47,XYY patient

      ANNALES DE GENETIQUE
    78. Buiting, K; Barnicoat, A; Lich, C; Pembrey, M; Malcolm, S; Horsthemke, B
      Disruption of the bipartite imprinting center in a family with Angelman syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    79. Hannula, K; Lipsanen-Nyman, M; Kontiokari, T; Kere, J
      A narrow segment of maternal uniparental disomy of chromosome 7q31-qter inSilver-Russell syndrome delimits a candidate gene region

      AMERICAN JOURNAL OF HUMAN GENETICS
    80. Silverstein, S; Lerer, I; Buiting, K; Abeliovich, D
      The 28-kb deletion spanning D15S63 is a polymorphic variant in the Ashkenazi Jewish population

      AMERICAN JOURNAL OF HUMAN GENETICS
    81. Katz, ES; McGrath, S; Marcus, CL
      Late-onset central hypoventilation with hypothalamic dysfunction: A distinct clinical syndrome

      PEDIATRIC PULMONOLOGY
    82. Kalousek, DK; Vekemans, M
      Confined placental mosaicism and genomic imprinting

      BEST PRACTICE & RESEARCH IN CLINICAL OBSTETRICS & GYNAECOLOGY
    83. Carrel, AL; Allen, DB
      Effects of growth hormone on body composition and bone metabolism

      ENDOCRINE
    84. Hiroe, Y; Inoue, Y; Higami, S; Suto, Y; Kawahara, R
      Relationship between hypersomnia and respiratory disorder during sleep in Prader-Willi syndrome

      PSYCHIATRY AND CLINICAL NEUROSCIENCES
    85. 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
    86. Lee, PDK
      Effects of growth hormone treatment in children with Prader-Willi syndrome

      GROWTH HORMONE & IGF RESEARCH
    87. Anneren, G; Tuvemo, T; Gustafsson, J
      Growth hormone therapy in young children with Down syndrome and a clinicalcomparison of Down and Prader-Willi syndromes

      GROWTH HORMONE & IGF RESEARCH
    88. Ji, YG; Eichler, EE; Schwartz, S; Nicholls, RD
      Structure of chromosomal duplicons and their role in mediating human genomic disorders

      GENOME RESEARCH
    89. 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
    90. 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
    91. Mann, MRW; Bartolomei, MS
      Maintaining imprinting

      NATURE GENETICS
    92. Bielinska, B; Blaydes, SM; Buiting, K; Yang, T; Krajewska-Walasek, M; Horsthemke, B; Brannan, CI
      De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch

      NATURE GENETICS
    93. Whitman, BY; Myers, S; Carrel, A; Allen, D
      A treatment/control group study of growth hormone treatment: Impact on behavior - A preliminary look

      ENDOCRINOLOGIST
    94. Grosso, S; Anichini, C; Berardi, R; Balestri, P; Pucci, L; Morgese, G
      Central precocious puberty and abnormal chromosomal patterns

      ENDOCRINE PATHOLOGY
    95. Preece, MA; Moore, GE
      Genomic imprinting, uniparental disomy and foetal growth

      TRENDS IN ENDOCRINOLOGY AND METABOLISM
    96. Nishihara, S; Hayashida, T; Mitsuya, K; Schulz, TC; Ikeguchi, M; Kaibara, N; Oshimura, M
      Multipoint imprinting analysis in sporadic colorectal cancers with and without microsatellite instability

      INTERNATIONAL JOURNAL OF ONCOLOGY
    97. Lukusa, T; Fryns, JP
      Pure distal monosomy 10q26 in a patient displaying clinical features of Prader-Willi syndrome during infancy and distinct behavioural phenotype in adolescence

      GENETIC COUNSELING
    98. Hiroi, H; Kozuma, S; Hayashi, N; Unno, N; Fujii, T; Tsutsumi, O; Okai, T; Taketani, Y
      A fetus with Prader-Willi syndrome showing normal diurnal rhythm and abnormal ultradian rhythm on heart rate monitoring

      FETAL DIAGNOSIS AND THERAPY
    99. Gravestock, S
      Eating disorders in adults with intellectual disability

      JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
    100. Roof, E; Stone, W; MacLean, W; Feurer, ID; Thompson, T; Butler, MG
      Intellectual characteristics of Prader-Willi syndrome: comparison of genetic subtypes

      JOURNAL OF INTELLECTUAL DISABILITY RESEARCH


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/11/20 alle ore 09:46:50