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La ricerca find articoli where soggetti phrase all words 'HUMAN-CHROMOSOME-15' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 38 riferimenti
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    1. 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
    2. 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
    3. 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
    4. 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
    5. Freedman, R; Leonard, S; Gault, JM; Hopkins, J; Cloninger, CR; Kaufmann, CA; Tsuang, MT; Farone, SV; Malaspina, D; Svrakic, DM; Sanders, A; Gejman, P
      Linkage disequilibrium for schizophrenia at the chromosome 15q13-14 locus of the alpha 7-nicotinic acetylcholine receptor subunit gene (CHRNA7)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    6. 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
    7. Mann, MRW; Bartolomei, MS
      Maintaining imprinting

      NATURE GENETICS
    8. Freedman, R; Adams, CE; Leonard, S
      The alpha 7-nicotinic acetylcholine receptor and the pathology of hippocampal interneurons in schizophrenia

      JOURNAL OF CHEMICAL NEUROANATOMY
    9. Szeto, IYY; Li, LL; Surani, MA
      Ocat, a paternally expressed gene closely linked and transcribed in the opposite direction to Peg3

      GENOMICS
    10. 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
    11. McEntagart, ME; Webb, T; Hardy, C; King, MD
      Familial Prader-Willi syndrome: Case report and a literature review

      CLINICAL GENETICS
    12. Sunahara, S; Nakamura, K; Nakao, K; Gondo, Y; Nagata, Y; Katsuki, M
      The oocyte-specific methylated region of the U2afbp-rs/U2af1-rs1 gene is dispensable for its imprinted methylation

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    13. Farber, C; Dittrich, B; Buiting, K; Horsthemke, B
      The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion

      HUMAN MOLECULAR GENETICS
    14. Greally, JM; Gray, TA; Gabriel, JM; Song, LQ; Zemel, S; Nicholls, RD
      Conserved characteristics of heterochromatin-forming DNA at the 15q11-q13 imprinting center

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    15. Gyftodimou, J; Karadima, G; Pandelia, E; Vassilopoulos, D; Petersen, MB
      Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction

      CLINICAL GENETICS
    16. Buiting, K; Dittrich, B; Dworniczak, B; Lerer, I; Abeliovich, D; Cottrell, S; Temple, IK; Harvey, JF; Lich, C; Gross, S; Horsthemke, B
      A 28-kb deletion spanning D15S63 (PW71) in five families: A rare neutral variant?

      AMERICAN JOURNAL OF HUMAN GENETICS
    17. Kuslich, CD; Kobori, JA; Mohapatra, G; Gregorio-King, C; Donlon, TA
      Prader-Willi syndrome is caused by disruption of the SNRPN gene

      AMERICAN JOURNAL OF HUMAN GENETICS
    18. SCHUMACHER A; BUITING K; ZESCHNIGK M; DOERFLER W; HORSTHEMKE B
      METHYLATION ANALYSIS OF THE PWS AS REGION DOES NOT SUPPORT AN ENHANCER-COMPETITION MODEL/

      Nature genetics
    19. YANG T; ADAMSON TE; RESNICK JL; LEFF S; WEVRICK R; FRANCKE U; JENKINS NA; COPELAND NG; BRANNAN CI
      A MOUSE MODEL FOR PRADER-WILLI-SYNDROME IMPRINTING-CENTER MUTATIONS

      Nature genetics
    20. TILGHMAN SM; CASPARY T; INGRAM RS
      COMPETITIVE EDGE AT THE IMPRINTED PRADER-WILLI ANGELMAN REGION/

      Nature genetics
    21. CHRISTIAN SL; BHATT NK; MARTIN SZ; SUTCLIFFE JS; KUBOTA T; HUANG B; MUTIRANGURA A; CHINAULT AC; BEAUDET AL; LEDBETTER DH
      INTEGRATED YAC CONTIG MAP OF THE PRADER-WILLI ANGELMAN-REGION ON CHROMOSOME-15Q11-Q13 WITH AVERAGE STS SPACING OF 35-KB/

      PCR methods and applications
    22. Burt, A; Trivers, R
      Genetic conflicts in genomic imprinting

      PROCEEDINGS OF THE ROYAL SOCIETY OF LONDON SERIES B-BIOLOGICAL SCIENCES
    23. Buchholz, T; Jackson, J; Robson, L; Smith, A
      Evaluation of methylation analysis for diagnostic testing in 258 referralssuspected of Prader-Willi or Angelman syndromes

      HUMAN GENETICS
    24. NICHOLLS RD; SAITOH S; HORSTHEMKE B
      IMPRINTING IN PRADER-WILLI AND ANGELMAN-SYNDROMES

      Trends in genetics
    25. LEONARD S; GAULT J; MOORE T; HOPKINS J; ROBINSON M; OLINCY A; ADLER LE; CLONINGER CR; KAUFMANN CA; TSUANG MT; FARAONE SV; MALASPINA D; SVRAKIC DM; FREEDMAN R
      FURTHER INVESTIGATION OF A CHROMOSOME-15 LOCUS IN SCHIZOPHRENIA - ANALYSIS OF AFFECTED SIBPAIRS FROM THE NIMH-GENETICS-INITIATIVE

      American journal of medical genetics
    26. LASALLE JM; RITCHIE RJ; GLATT H; LALANDE M
      CLONAL HETEROGENEITY AT ALLELIC METHYLATION SITES DIAGNOSTIC FOR PRADER-WILLI-AND-ANGELMAN-SYNDROMES

      Proceedings of the National Academy of Sciences of the United Statesof America
    27. LYKO F; BUITING K; HORSTHEMKE B; PARO R
      IDENTIFICATION OF A SILENCING ELEMENT IN THE HUMAN 15Q11-Q13 IMPRINTING CENTER BY USING TRANSGENIC DROSOPHILA

      Proceedings of the National Academy of Sciences of the United Statesof America
    28. HUNTRISS J; DANIELS R; BOLTON V; MONK M
      IMPRINTED EXPRESSION OF SNRPN IN HUMAN PREIMPLANTATION EMBRYOS

      American journal of human genetics
    29. BUITING K; DITTRICH B; GROSS S; LICH C; FARBER C; BUCHHOLZ T; SMITH E; REIS A; BURGER J; NOTHEN MM; BARTHWITTE U; JANSSEN B; ABELIOVICH D; LERER I; VANDENOUWELAND AMW; HALLEY DJJ; SCHRANDERSTUMPEL C; SMEETS H; MEINECKE P; MALCOLM S; GARDNER A; LALANDE M; NICHOLLS RD; FRIEND K; SCHULZE A; MATTHIJS G; KOKKONEN H; HILBERT P; VANMALDERGEM L; GLOVER G; CARBONELL P; WILLEMS P; GILLESSENKAESBACH G; HORSTHEMKE B
      SPORADIC IMPRINTING DEFECTS IN PRADER-WILLI-SYNDROME AND ANGELMAN-SYNDROME - IMPLICATIONS FOR IMPRINT-SWITCH MODELS, GENETIC-COUNSELING, AND PRENATAL-DIAGNOSIS

      American journal of human genetics
    30. WANDSTRAT AE; LEANACOX J; JENKINS L; SCHWARTZ S
      MOLECULAR CYTOGENETIC EVIDENCE FOR A COMMON BREAKPOINT IN THE LARGESTINVERTED DUPLICATIONS OF CHROMOSOME-15

      American journal of human genetics
    31. WATRIN F; ROECKEL N; LACROIX L; MIGNON C; MATTEI MG; DISTECHE C; MUSCATELLI F
      THE MOUSE NECDIN GENE IS EXPRESSED FROM THE PATERNAL ALLELE ONLY AND LIES IN THE 7C REGION OF THE MOUSE-CHROMOSOME-7, A REGION OF CONSERVEDSYNTENY TO THE HUMAN PRADER-WILLI-SYNDROME REGION

      European journal of human genetics
    32. 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
    33. KEVERNE EB
      GENOMIC IMPRINTING IN THE BRAIN

      Current opinion in neurobiology
    34. ZUBAIR M; HILTON K; SAAM JR; SURANI MA; TILGHMAN SM; SASAKI H
      STRUCTURE AND EXPRESSION OF THE MOUSE L23MRP GENE DOWNSTREAM OF THE IMPRINTED H19 GENE - BIALLELIC EXPRESSION AND LACK OF INTERACTION WITH THE H19 ENHANCERS

      Genomics
    35. ROBINSON W; KNOLL J
      REPORT OF THE 3RD INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-15 MAPPING 1996 - HELD ON OCTOBER 25-27, 1996 IN VANCOUVER BC, CANADA

      Cytogenetics and cell genetics
    36. FREEDMAN R; COON H; MYLESWORSLEY M; ORRURTREGER A; OLINCY A; DAVIS A; POLYMEROPOULOS M; HOLIK J; HOPKINS J; HOFF M; ROSENTHAL J; WALDO MC; REIMHERR F; WENDER P; YAW J; YOUNG DA; BREESE CR; ADAMS C; PATTERSON D; ADLER LE; KRUGLYAK L; LEONARD S; BYERLEY W
      LINKAGE OF A NEUROPHYSIOLOGICAL DEFICIT IN SCHIZOPHRENIA TO A CHROMOSOME-15 LOCUS

      Proceedings of the National Academy of Sciences of the United Statesof America
    37. GILBERT HL; BUXTON JL; CHAN CTJ; MCKAY T; COTTRELL S; RAMSDEN S; WINTER RM; PEMBREY ME; MALCOLM S
      COUNSELING DILEMMAS ASSOCIATED WITH THE MOLECULAR CHARACTERIZATION OF2 ANGELMAN-SYNDROME FAMILIES

      Journal of Medical Genetics
    38. ROGAN PK; SEIP JR; DRISCOLL DJ; PAPENHAUSEN PR; JOHNSON VP; RASKIN S; WOODWARD AL; BUTLER MG
      DISTINCT 15Q GENOTYPES IN RUSSELL-SILVER AND RING-15 SYNDROMES

      American journal of medical genetics


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Documento generato il 20/10/20 alle ore 00:58:10