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La ricerca find articoli where authors phrase all words ' Buiting, K' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 59 riferimenti
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    1. El-Maarri, O; Buiting, K; Peery, EG; Kroisel, PM; Balaban, B; Wagner, K; Urman, B; Heyd, J; Lich, C; Brannan, CI; Walter, J; Horsthemke, B
      Maternal methylation imprints on human chromosome 15 are established during or after fertilization

      NATURE GENETICS
    2. 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
    3. 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
    4. 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
    5. Herzog, S; Lohmann, DR; Buiting, K; Schuler, A; Horsthemke, B; Rehder, H; Rieder, H
      Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization

      HUMAN 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. 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
    8. Shemer, R; Hershko, AY; Perk, J; Mostoslavsky, R; Tsuberi, B; Cedar, H; Buiting, K; Razin, A
      The imprinting box of the Prader-Willi/Angelman syndrome domain

      NATURE GENETICS
    9. 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
    10. 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
    11. Cavaille, J; Buiting, K; Kiefmann, M; Lalande, M; Brannan, CI; Horsthemke, B; Bachellerie, JP; Brosius, J; Huttenhofer, A
      Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    12. Buiting, K; Farber, C; Kroisel, P; Wagner, K; Brueton, L; Robertson, ME; Lich, C; Horsthemke, B
      Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counselling

      CLINICAL GENETICS
    13. Ji, YG; Walkowicz, MJ; Buiting, K; Johnson, DK; Tarvin, RE; Rinchik, EM; Horsthemke, B; Stubbs, L; Nicholls, RD
      The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities

      HUMAN MOLECULAR GENETICS
    14. 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
    15. Buiting, K; Lich, C; Cottrell, S; Barnicoat, A; Horsthemke, B
      A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp

      HUMAN GENETICS
    16. Buiting, K; Korner, C; Ulrich, B; Wahle, E; Horsthemke, B
      The human gene for the poly(A)-specific ribonuclease (PARN) maps to 16p13 and has a truncated copy in the Prader-Willi/Angelman syndrome region on 15q11 -> q13

      CYTOGENETICS AND CELL GENETICS
    17. 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
    18. Ohta, T; Buiting, K; Kokkonen, H; McCandless, S; Heeger, S; Leisti, H; Driscoll, DJ; Cassidy, SB; Horsthemke, B; Nicholls, RD
      Molecular mechanism of Angelman syndrome in two large families involves animprinting mutation

      AMERICAN JOURNAL OF HUMAN GENETICS
    19. Ohta, T; Gray, TA; Rogan, PK; Buiting, K; Gabriel, JM; Saitoh, S; Muralidhar, B; Bilienska, B; Krajewska-Walasek, M; Driscoll, DJ; Horsthemke, B; Butler, MG; Nicholls, RD
      Imprinting-mutation mechanisms in Prader-Willi syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    20. 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
    21. GAULT J; ROBINSON M; BERGER R; DREBING C; LOGEL J; HOPKINS J; MOORE T; JACOBS S; MERIWETHER J; CHOI MJ; KIM EJ; WALTON K; BUITING K; DAVIS A; BREESE C; FREEDMAN R; LEONARD S
      GENOMIC ORGANIZATION AND PARTIAL DUPLICATION OF THE HUMAN ALPHA-7 NEURONAL NICOTINIC ACETYLCHOLINE-RECEPTOR GENE (CHRNA7)

      Genomics (San Diego, Calif.)
    22. BUITING K; GROSS S; JI Y; SENGER G; NICHOLLS RD; HORSTHEMKE B
      EXPRESSED COPIES OF THE MN7 (D15F37) GENE FAMILY MAP CLOSE TO THE COMMON DELETION BREAKPOINTS IN THE PRADER-WILLI ANGELMAN-SYNDROMES/

      Cytogenetics and cell genetics
    23. 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
    24. 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
    25. HORSTHEMKE B; DITTRICH B; BUITING K
      IMPRINTING MUTATIONS ON HUMAN-CHROMOSOME-15

      Human mutation
    26. ZESCHNIGK M; LICH C; BUITING K; DOERFLER W; HORSTHEMKE B
      A SINGLE-TUBE PCR TEST FOR THE DIAGNOSIS OF ANGELMAN AND PRADER-WILLI-SYNDROME BASED ON ALLELIC METHYLATION DIFFERENCES AT THE SNRPN LOCUS

      European journal of human genetics
    27. ZESCHNIGK M; SCHMITZ B; DITTRICH B; BUITING K; HORSTHEMKE B; DOERFLER W
      IMPRINTED SEGMENTS IN THE HUMAN GENOME - DIFFERENT DNA METHYLATION PATTERNS IN THE PRADER-WILLI ANGELMAN SYNDROME REGION AS DETERMINED BY THE GENOMIC SEQUENCING METHOD/

      Human molecular genetics
    28. BUITING K; DITTRICH B; ENDELE S; HORSTHEMKE B
      IDENTIFICATION OF NOVEL EXONS 3' TO THE HUMAN SNRPN GENE

      Genomics
    29. LOHMANN DR; BUITING K; LUDECKE HJ; HORSTHEMKE B
      THE MURINE EXT1 GENE SHOWS A HIGH-LEVEL OF SEQUENCE SIMILARITY WITH ITS HUMAN HOMOLOG AND IS PART OF A CONSERVED LINKAGE GROUP ON CHROMOSOME-15

      Cytogenetics and cell genetics
    30. OHTA T; SAITOH S; BUITING K; GABRIEL JM; SCHWARTZ S; CASSIDY SB; ROGAN PK; GLENN CC; DRISCOLL DJ; HORSTHEMKE B; NICHOLLS RD
      IMPRINTING MUTATIONS IN PRADER-WILLI (AND ANGELMAN) SYNDROME EXEMPLIFY A NEW GENETIC MECHANISM

      American journal of medical genetics
    31. SAITOH S; BUITING K; CASSIDY SB; CONROY JM; DRISCOLL DJ; GABRIEL JM; GILLESSENKAESBACH G; GLENN CC; GREENSWAG LR; HORSTHEMKE B; KONDO I; KUWAJIMA K; NIIKAWA N; ROGAN PK; SCHWARTZ S; SEIP J; WILLIAMS CA; NICHOLLS RD
      CLINICAL SPECTRUM AND MOLECULAR DIAGNOSIS OF ANGELMAN AND PRADER-WILLI-SYNDROME PATIENTS WITH AN IMPRINTING MUTATION

      American journal of medical genetics
    32. JI Y; WALKOWICZ MJ; BUITING K; RINCHIK EM; AMOSLANDGRAF JM; TARVIN RE; HORSTHEMKE B; JOHNSON DK; STUBBS L; NICHOLLS RD
      CHARACTERIZATION OF A LARGE TRANSCRIPT ASSOCIATED WITH NEUROMUSCULAR TREMOR, RUNTING, JUVENILE LETHALITY, AND SPERM DEFECTS IN JDF2 MICE

      American journal of human genetics
    33. OHTA T; BUITING K; KOKKONEN H; SAITOH S; MCCANDLESS S; CASSIDY SB; DRISCOLL DJ; HORSTHEMKE B; NICHOLLS RD
      MOLECULAR ANALYSIS IN 2 LARGE AS IMPRINTING MUTATION (IM) FAMILIES AND IDENTIFICATION OF MICRODELETION JUNCTIONS IN AS AND PWS IM FAMILIES

      American journal of human genetics
    34. CONROY JM; GREBE TA; BECKER LA; TSUCHIYA K; NICHOLLS RD; BUITING K; HORSTHEMKE B; CASSIDY SB; SCHWARTZ S
      BALANCED TRANSLOCATION 46,XY,T(2-15)(Q37.2-Q11.2) ASSOCIATED WITH ATYPICAL PRADER-WILLI-SYNDROME

      American journal of human genetics
    35. BURGER J; BUITING K; DITTRICH B; GROSS S; LICH C; SPERLING K; HORSTHEMKE B; REIS A
      DIFFERENT MECHANISMS AND RECURRENCE RISKS OF IMPRINTING DEFECTS IN ANGELMAN-SYNDROME

      American journal of human genetics
    36. DITTRICH B; BUITING K; KORN B; RICKARD S; BUXTON J; SAITOH S; NICHOLLS RD; POUSTKA A; WINTERPACHT A; ZABEL B; HORSTHEMKE B
      IMPRINT SWITCHING ON HUMAN-CHROMOSOME-15 MAY INVOLVE ALTERNATIVE TRANSCRIPTS OF THE SNRPN GENE

      Nature genetics
    37. SCHUFFENHAUER S; BUCHHOLZ T; STENGELRUTKOWSKI S; BUITING K; SCHMIDT H; MEITINGER T
      A FAMILIAL DELETION IN THE PRADER-WILLI-SYNDROME REGION INCLUDING THEIMPRINTING CONTROL REGION

      Human mutation
    38. BUITING K; KAYAWESTERLOH S; HORSTHEMKE B
      A PSEUDOGENE FOR THE HUMAN RIBOSOMAL-PROTEIN-L5 (RPL5P1) MAPS WITHIN AN INTRON OF THE SNRPN TRANSCRIPTION UNIT ON HUMAN-CHROMOSOME-15

      Cytogenetics and cell genetics
    39. NICHOLLS RD; AMOSLANDGRAF J; WANDSTRAT AE; SCHWARTZ S; CASSIDY SB; JI Y; DRISCOLL DJ; GLENN CC; SUN Y; PALMER CG; BUITING K; HORSTHEMKE B; SAITOH S
      MECHANISMS INVOLVED IN PRADER-WILLI AND ANGELMAN SYNDROME (VOL 64, PG573, 1996)

      American journal of medical genetics
    40. SCHWARTZ S; GREBE T; WOLFF D; BECKER L; CONROY J; NICHOLLS RD; HORSTHEMKE B; BUITING K; CASSIDY SB
      AN UNUSUAL TRANSLOCATION WITHIN THE PRADER-WILLI ANGELMAN SYNDROME CRITICAL REGION IN 15Q11-15Q13 ASSOCIATED WITH CLINICAL PRADER-WILLI-SYNDROME/

      American journal of medical genetics
    41. DITTRICH B; BUITING K; HORSTHEMKE B
      PW71 METHYLATION TEST FOR PRADER-WILLI AND ANGELMAN SYNDROMES

      American journal of medical genetics
    42. SAITOH S; BUITING K; ROGAN PK; BUXTON JL; DRISCOLL DJ; ARNEMANN J; KONIG R; MALCOLM S; HORSTHEMKE B; NICHOLLS RD
      MINIMAL DEFINITION OF THE IMPRINTING CENTER AND FIXATION OF A CHROMOSOME 15Q11-Q13 EPIGENOTYPE BY IMPRINTING MUTATIONS

      Proceedings of the National Academy of Sciences of the United Statesof America
    43. HORSTHEMKE B; MAATKIEVIT A; SLEEGERS E; VANDENOUWELAND A; BUITING K; LICH C; MOLLEVANGER P; BEVERSTOCK G; GILLESSENKAESBACH G; SCHWANITZ G
      FAMILIAL TRANSLOCATIONS INVOLVING 15Q11-Q13 CAN GIVE RISE TO INTERSTITIAL DELETIONS CAUSING PRADER-WILLI OR ANGELMAN SYNDROME

      Journal of Medical Genetics
    44. BUITING K; SAITOH S; GROSS S; DITTRICH B; SCHWARTZ S; NICHOLLS RD; HORSTHEMKE B
      INHERITED MICRODELETIONS IN THE ANGELMAN AND PRADER-WILLI SYNDROMES DEFINE AN IMPRINTING CENTER ON HUMAN-CHROMOSOME-15

      Nature genetics
    45. BUITING K; SAITOH S; GROSS S; BITTRICH B; SCHWARTZ S; NICHOLLS RD; HORSTHEMKE B
      INHERITED MICRODELETIONS IN THE ANGELMAN AND PRADER-WILLI SYNDROMES DEFINE AN IMPRINTING CENTER ON HUMAN-CHROMOSOME-15 (VOL 9, PG 395, 1995)

      Nature genetics
    46. HORSTHEMKE B; DITTRICH B; KORN B; POUSTKA A; BUITING K
      A TRANSCRIPT FROM THE PUTATIVE IMPRINTING CENTER IN THE PRADER-WILLI ANGELMAN SYNDROME REGION

      American journal of human genetics
    47. CONROY J; GREBE TA; WOLFF D; BECKER L; NICHOLLS RD; HORSTHEMKE B; BUITING K; CASSIDY SB; SCHWARTZ S
      AN UNUSUAL TRANSLOCATION WITHIN THE PRADER-WILLI ANGELMAN SYNDROME CRITICAL REGION ASSOCIATED WITH CLINICAL PRADER-WILLI-SYNDROME/

      American journal of human genetics
    48. SAITOH S; ROGAN PK; BUITING K; SCHWARTZ S; CASSIDY SB; GLENN CC; DRISCOLL DJ; HORSTHEMKE B; NICHOLLS RD
      MINIMAL DEFINITION OF THE IMPRINTING CENTER AND FIXATION OF A CHROMOSOME 15Q11-Q13 EPIGENOTYPE BY IMPRINTING MUTATIONS

      American journal of human genetics
    49. BUITING K; DITTRICH B; ROBINSON WP; GUITART M; ABELIOVICH D; LERER I; HORSTHEMKE B
      DETECTION OF ABERRANT DNA METHYLATION IN UNIQUE PRADER-WILLI-SYNDROMEPATIENTS AND ITS DIAGNOSTIC IMPLICATIONS

      Human molecular genetics
    50. BUITING K; DITTRICH B; ROBINSON WP; GUITART M; ABELIOVICH D; LERER I; HORSTHEMKE B
      DETECTION OF ABERRANT DNA METHYLATION IN UNIQUE PRADER-WILLI-SYNDROMEPATIENTS AND ITS DIAGNOSTIC IMPLICATIONS (VOL 3, PG 893, 1994)

      Human molecular genetics
    51. DITTRICH B; BUITING K; GROSS S; HORSTHEMKE B
      AN INSERTION DELETION POLYMORPHISM AT THE D15S63 LOCUS IN THE CRITICAL PRADER-WILLI-SYNDROME REGION IN 15Q11-13/

      Human genetics
    52. HORSTHEMKE B; DITTRICH B; BUITING K
      MOLECULAR CHARACTERIZATION OF THE PRADER-WILLI-SYNDROME CHROMOSOME REGION AND DETECTION OF PARENT-OF-ORIGIN SPECIFIC DNA METHYLATION

      Cytogenetics and cell genetics
    53. REIS A; DITTRICH B; GREGER V; BUITING K; LALANDE M; GILLESSENKAESBACH G; ANVRET M; HORSTHEMKE B
      IMPRINTING MUTATIONS SUGGESTED BY ABNORMAL DNA METHYLATION PATTERNS IN FAMILIAL ANGELMAN AND PRADER-WILLI SYNDROMES

      American journal of human genetics
    54. DITTRICH B; GROSS S; BUITING K; HORSTHEMKE B
      AN NCII RFLP AT THE D15S63 LOCUS IN THE CRITICAL PRADER-WILLI-SYNDROME REGION IN 15Q11-13

      Human molecular genetics
    55. BUITING K; DITTRICH B; GROSS S; GREGER V; LALANDE M; ROBINSON W; MUTIRANGURA A; LEDBETTER D; HORSTHEMKE B
      MOLECULAR DEFINITION OF THE PRADER-WILLI-SYNDROME CHROMOSOME REGION AND ORIENTATION OF THE SNRPN GENE

      Human molecular genetics
    56. DITTRICH B; BUITING K; GROSS S; HORSTHEMKE B
      CHARACTERIZATION OF A METHYLATION IMPRINT IN THE PRADER-WILLI-SYNDROME CHROMOSOME REGION

      Human molecular genetics
    57. MUTIRANGURA A; JAYAKUMAR A; SUTCLIFFE JS; NAKAO M; MCKINNEY MJ; BUITING K; HORSTHEMKE B; BEAUDET AL; CHINAULT AC; LEDBETTER DH
      A COMPLETE YAC CONTIG OF THE PRADER-WILLI ANGELMAN CHROMOSOME REGION (15Q11-Q13) AND REFINED LOCALIZATION OF THE SNRPN GENE/

      Genomics
    58. BUITING K; HORSTHEMKE B
      EXPRESSION OF THE MN7 SEQUENCE FAMILY IN HUMAN BRAIN

      American journal of human genetics
    59. DITTRICH B; BUITING K; GILLESSENKAESBACH G; HORSTHEMKE B
      PARENT-OF-ORIGIN SPECIFIC DNA METHYLATION AND IMPRINTING MUTATIONS INTHE PRADER-WILLI-SYNDROME

      American journal of human genetics


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Documento generato il 19/10/20 alle ore 23:34:26