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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. Tschentscher, F; Prescher, G; Horsman, DE; White, VA; Rieder, H; Anastassiou, G; Schilling, H; Bornfeld, N; Bartz-Schmidt, KU; Horsthemke, B; Lohmann, DR; Zeschnigk, M
      Partial deletions of the long and short arm of chromosome 3 point to two tumor suppressor genes in uveal melanoma

      CANCER RESEARCH
    7. 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
    8. Ludecke, HJ; Schaper, J; Meinecke, P; Momeni, P; Gross, S; von Holtum, D; Hirche, H; Abramowicz, MJ; Albrecht, B; Apacik, C; Christen, HJ; Claussen, U; Devriendt, K; Fastnacht, E; Forderer, A; Friedrich, U; Goodship, THJ; Greiwe, M; Hamm, H; Hennekam, RCM; Hinkel, GK; Hoeltzenbein, M; Kayserili, H; Majewski, F; Mathieu, M; McLeod, R; Midro, AT; Moog, U; Nagai, T; Niikawa, N; Orstavik, KH; Plochl, E; Seitz, C; Schmidtke, J; Tranebjaerg, L; Tsukahara, M; Wittwer, B; Zabel, B; Gillessen-Kaesbach, G; Horsthemke, B
      Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III

      AMERICAN JOURNAL OF HUMAN 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. Momeni, P; Glockner, G; Schmidt, O; von Holtum, D; Albrecht, B; Gillessen-Kaesbach, G; Hennekam, R; Meinecke, P; Zabel, B; Rosenthal, A; Horsthemke, B; Ludecke, HJ
      Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

      NATURE GENETICS
    11. Gillessen-Kaesbach, G; Horsthemke, B
      Phenotype in patients with Angelman syndrome - Reply

      EUROPEAN JOURNAL OF HUMAN GENETICS
    12. 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
    13. Tschentscher, F; Prescher, G; Zeschnigk, M; Horsthemke, B; Lohmann, DR
      Identification of chromosomes 3, 6, and 8 aberrations in uveal melanoma bymicrosatellite analysis in comparison to comparative genomic hybridization

      CANCER GENETICS AND CYTOGENETICS
    14. 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
    15. 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
    16. Passarge, E; Horsthemke, B; Farber, RA
      Incorrect use of the term synteny

      NATURE GENETICS
    17. Siffert, W; Forster, P; Jockel, KH; Mvere, DA; Brinkmann, B; Naber, C; Crookes, R; Heyns, ADP; Epplen, JT; Fridey, J; Freedman, BI; Muller, N; Stolke, D; Sharma, AM; Al Moutaery, K; Grosse-Wilde, H; Buerbaum, B; Ehrlich, T; Ahmad, HR; Horsthemke, B; Du Toit, ED; Tiilikainen, A; Ge, JB; Wang, YL; Yang, DL; Husing, J; Rosskopf, D
      Worldwide ethnic distribution of the G protein beta 3 subunit 825T allele and its association with obesity in Caucasian, Chinese, and Black African individuals

      JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
    18. 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
    19. 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
    20. 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
    21. Lohmann, DR; Horsthemke, B
      No association between the presence of a constitutional RB1 gene mutation and age in 68 patients with isolated unilateral retinoblastoma

      EUROPEAN JOURNAL OF CANCER
    22. Walkowicz, M; Ji, YG; Ren, XJ; Horsthemke, B; Russell, LB; Johnson, D; Rinchik, EM; Nicholls, RD; Stubbs, L
      Molecular characterization of radiation- and chemically induced mutations associated with neuromuscular tremors, runting, juvenile lethality, and sperm defects in jdf2 mice

      MAMMALIAN GENOME
    23. Ludecke, HJ; Schmidt, O; Nardmann, J; von Holtum, D; Meinecke, P; Muenke, M; Horsthemke, B
      Genes and chromosomal breakpoints in the Langer-Giedion syndrome region onhuman chromosome 8

      HUMAN GENETICS
    24. Schmidt, O; von Holtum, D; Gross, S; Horsthemke, B; Ludecke, HJ
      The EIF3S3 gene encoding the p40 subunit of the translation initiation factor eIF3 has eight exons and maps to the Langer-Giedion syndrome chromosomeregion on 8q24, but is not the TRPS1 gene

      HUMAN GENETICS
    25. 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
    26. 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
    27. Zeschnigk, M; Lohmann, D; Horsthemke, B
      A PCR test for the detection of hypermethylated alleles at the retinoblastoma locus

      JOURNAL OF MEDICAL GENETICS
    28. Schomburg, L; Turwitt, S; Prescher, G; Lohmann, D; Horsthemke, B; Bauer, K
      Human TRH-degrading ectoenzyme - cDNA cloning, functional expression, genomic structure and chromosomal assignment

      EUROPEAN JOURNAL OF BIOCHEMISTRY
    29. 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
    30. 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
    31. 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
    32. Klutz, M; Horsthemke, B; Lohmann, DR
      RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma

      AMERICAN JOURNAL OF HUMAN GENETICS
    33. 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
    34. SIFFERT W; ROSSKOPF D; SIFFERT G; BUSCH S; MORITZ A; ERBEL R; SHARMA AM; RITZ E; WICHMANN HE; JAKOBS KH; HORSTHEMKE B
      ASSOCIATION OF A HUMAN G-PROTEIN BETA-3 SUBUNIT VARIANT WITH HYPERTENSION

      Nature genetics
    35. ROBINSON WP; KUCHINKA BD; BERNASCONI F; PETERSEN MB; SCHULZE A; BRONDUMNIELSEN K; CHRISTIAN SL; LEDBETTER DH; SCHINZEL AA; HORSTHEMKE B; SCHUFFENHAUER S; MICHAELIS RC; LANGLOIS S; HASSOLD TJ
      MATERNAL MEIOSIS-I NONDISJUNCTION OF CHROMOSOME-15 - DEPENDENCE OF THE MATERNAL AGE EFFECT ON LEVEL OF RECOMBINATION

      Human molecular genetics
    36. 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
    37. NICHOLLS RD; SAITOH S; HORSTHEMKE B
      IMPRINTING IN PRADER-WILLI AND ANGELMAN-SYNDROMES

      Trends in genetics
    38. 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
    39. LOHMANN D; HORSTHEMKE B
      GENETIC AND MOLECULAR DIAGNOSTICS IN RETINOBLASTOMA

      Klinische Monatsblatter fur Augenheilkunde
    40. 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
    41. HORSTHEMKE B; DITTRICH B; BUITING K
      IMPRINTING MUTATIONS ON HUMAN-CHROMOSOME-15

      Human mutation
    42. 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
    43. BEHRENS F; CLAUSSEN U; IYER LM; GREEN ED; HORSTHEMKE B; WILIAMSON R; HUXLEY G; COUTELLE C
      ISOLATION OF DNA FROM THE CENTROMERE OF HUMAN-CHROMOSOME-7 BY MICRODISSECTION

      Chromosome research
    44. 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
    45. LOHMANN DR; BRANDT B; PASSARGE E; HORSTHEMKE B
      MOLECULAR ANALYSIS AND PREDICTIVE TESTING IN RETINOBLASTOMA - IMPACT ON OPHTHALMOLOGIC ROUTINE

      Der Ophthalmologe
    46. LUDECKE HJ; AHN J; LIN X; HILL A; WAGNER MJ; SCHOMBURG L; HORSTHEMKE B; WELLS DE
      GENOMIC ORGANIZATION AND PROMOTER STRUCTURE OF THE HUMAN EXT1 GENE

      Genomics
    47. BUITING K; DITTRICH B; ENDELE S; HORSTHEMKE B
      IDENTIFICATION OF NOVEL EXONS 3' TO THE HUMAN SNRPN GENE

      Genomics
    48. NARDMANN J; TRANEBJAERG L; HORSTHEMKE B; LUDECKE HJ
      THE TRICHORHINOPHALANGEAL SYNDROMES - FREQUENCY AND PARENTAL ORIGIN OF 8Q DELETIONS

      Human genetics
    49. 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
    50. OHTANIFUJITA N; DRYJA TP; RAPAPORT JM; FUJITA T; MATSUMURA S; OZASA K; WATANABE Y; HAYASHI K; MAEDA K; KINOSHITA S; MATSUMURA T; OHNISHI Y; HOTTA Y; TAKAHASHI R; KATO MV; ISHIZAKI K; SASAKI MS; HORSTHEMKE B; MINODA K; SAKAI T
      HYPERMETHYLATION IN THE RETINOBLASTOMA GENE IS ASSOCIATED WITH UNILATERAL, SPORADIC RETINOBLASTOMA

      Cancer genetics and cytogenetics
    51. 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
    52. 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
    53. LORENZ B; GERIGK M; HORSTHEMKE B; LOHMANN D
      RB1-MUTATION ANALYSIS IN TUMOR DNA - ASCERTAINMENT OF A CONSTITUTIONAL RB1 GENE MUTATION IN UNILATERAL RETINOBLASTOMA AND SOMATIC MOSAICISMIN A PATIENT WITH BILATERAL DISEASE

      Investigative ophthalmology & visual science
    54. HORSTHEMKE B
      STRUCTURE AND FUNCTION OF THE HUMAN-CHROMOSOME-15 IMPRINTING CENTER

      Journal of cellular physiology
    55. 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
    56. KUCHINKA BD; HASSOLD TJ; HORSTHEMKE B; LANGLOIS S; LEDBETTER DH; MICHAELIS RC; SCHINZEL A; SCHUFFENHAUER S; ROBINSON WP
      MATERNAL AGE AND RECOMBINATION DISTRIBUTION ASSOCIATED WITH CHROMOSOME-15 NONDISJUNCTION

      American journal of human genetics
    57. PASSARGE E; LOHMANN D; YILMAZ S; BRANDT B; HORSTHEMKE B
      MUTATIONAL MOSAICISM IN PATIENTS WITH HEREDITARY RETINOBLASTOMA

      American journal of human genetics
    58. 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
    59. LOHMANN DR; GERICK M; BRANDT B; OELSCHLAGER U; LORENZ B; PASSARGE E; HORSTHEMKE B
      CONSTITUTIONAL RB1-GENE MUTATIONS IN PATIENTS WITH ISOLATED UNILATERAL RETINOBLASTOMA

      American journal of human genetics
    60. 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
    61. 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
    62. JONES C; BOOTH C; RITA D; JAZMINES L; BRANDT B; NEWLAN A; HORSTHEMKE B
      BILATERAL RETINOBLASTOMA IN A MALE-PATIENT WITH AN X-13 TRANSLOCATION- EVIDENCE FOR SILENCING OF THE RB1 GENE BY THE SPREADING OF X-INACTIVATION

      American journal of human genetics
    63. 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
    64. 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
    65. ROBINSON WP; LANGLOIS S; SCHUFFENHAUER S; HORSTHEMKE B; MICHAELIS RC; CHRISTIAN S; LEDBETTER DH; SCHINZEL A
      CYTOGENETIC AND AGE-DEPENDENT RISK-FACTORS ASSOCIATED WITH UNIPARENTAL DISOMY-15

      Prenatal diagnosis
    66. 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
    67. KUBOTA T; SUTCLIFFE JS; ARADHYA S; GILLESSENKAESBACH G; CHRISTIAN SL; HORSTHEMKE B; BEAUDET AL; LEDBETTER DH
      VALIDATION STUDIES OF SNRPN METHYLATION AS A DIAGNOSTIC-TEST FOR PRADER-WILLI-SYNDROME

      American journal of medical genetics
    68. ROBINSON WP; LANGLOIS S; BERNASCONI F; CLARK S; CHRISTIAN S; LEDBETTER DH; GILLESSENKAESBACH G; HORSTHEMKE B; LERER I; ABELIOVICH D; MICHAELIS R; SCHUFFENHAUER S; SCHINZEL AA
      THE ORIGIN OF MATERNAL UNIPARENTAL DISOMY-15

      American journal of medical genetics
    69. 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
    70. KUBOTA T; CHRISTINA SL; HORSTHEMKE B; LEDBETTER DH
      ADVANCES IN BOTH POSTNATAL AND PRENATAL-DIAGNOSIS FOR PRADER-WILLI-SYNDROME (PWS)

      American journal of medical genetics
    71. MITCHELL J; LANGLOIS S; GILLESSENKAESBACH G; HORSTHEMKE B; MICHAELIS R; SCHINZEL AA; ABELOVICH S; LERER I; SCHUFFENHAUER S; GUITART M; ROBINSON WP
      A COMPARISON OF PHENOTYPE IN PATIENTS WITH PRADER-WILLI-SYNDROME (PWS) RESULTING FROM INTERSTITIAL DELETION AND UNIPARENTAL DISOMY

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

      American journal of medical genetics
    73. PRESCHER G; BORNFELD N; HIRCHE H; HORSTHEMKE B; JOCKEL KH; BECHER R
      PROGNOSTIC IMPLICATIONS OF MONOSOMY-3 IN UVEAL MELANOMA

      Lancet
    74. 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
    75. 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
    76. LOHMANN DR; BRANDT B; HOPPING W; PASSARGE E; HORSTHEMKE B
      THE SPECTRUM OF RB1 GERM-LINE MUTATIONS IN HEREDITARY RETINOBLASTOMA

      American journal of human genetics
    77. LOHMANN DR; BRANDT B; OEHLSCHLAGER U; GOTTMANN E; HOPPING W; PASSARGE E; HORSTHEMKE B
      MOLECULAR ANALYSIS AND PREDICTIVE TESTING IN RETINOBLASTOMA

      Ophthalmic genetics
    78. 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
    79. AHN J; JOSEFLUDECKE H; LINDOW S; HORTON WA; LEE B; WAGNER MJ; HORSTHEMKE B; WELLS DE
      CLONING OF THE PUTATIVE TUMOR-SUPPRESSOR GENE FOR HEREDITARY MULTIPLEEXOSTOSES (EXT1)

      Nature genetics
    80. 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
    81. KLINK A; SCHIEBEL K; WINKELMANN M; RAO E; HORSTHEMKE B; LUDECKE HJ; CLAUSSEN U; SCHERER G; RAPPOLD G
      THE HUMAN PROTEIN-KINASE GENE PKX1 ON XP22.3 DISPLAYS XP YP HOMOLOGY AND IS A SITE OF CHROMOSOMAL INSTABILITY/

      Human molecular genetics
    82. LUDECKE HJ; WAGNER MJ; NARDMANN J; LAPILLO B; PARRISH JE; WILLEMS PJ; HAAN EA; FRYDMAN M; HAMERS GJH; WELLS DE; HORSTHEMKE B
      MOLECULAR DISSECTION OF A CONTIGUOUS GENE SYNDROME - LOCALIZATION OF THE GENES INVOLVED IN THE LANGER-GIEDION SYNDROME

      Human molecular genetics
    83. HOU J; PARRISH J; LUDECKE HJ; SAPRU M; WANG Y; CHEN W; HILL A; SIEGELBARTELT J; NORTHRUP H; ELDER FFB; CHINAULT C; HORSTHEMKE B; WAGNER MJ; WELLS DE
      A 4-MEGABASE YAC CONTIG THAT SPANS THE LANGER-GIEDION SYNDROME REGIONON HUMAN-CHROMOSOME 8Q24.1 - USE IN REFINING THE LOCATION OF THE TRICHORHINOPHALANGEAL SYNDROME AND MULTIPLE EXOSTOSES GENES (TRPS1 AND EXT1)

      Genomics
    84. GILLESSENKAESBACH G; ROBINSON W; LOHMANN D; KAYAWESTERLOH S; PASSARGE E; HORSTHEMKE B
      GENOTYPE-PHENOTYPE CORRELATION IN A SERIES OF 167 DELETION AND NONDELETION PATIENTS WITH PRADER-WILLI-SYNDROME

      Human genetics
    85. HORSTHEMKE B; RUTTERMANN M
      ON THE MAXIMUM-ENTROPY PRINCIPLE FOR A CLASS OF STOCHASTIC-PROCESSES

      Stochastic processes and their applications
    86. LUDECKE HJ; WAGNER MJ; LAPILLO B; NARDMANN J; WELLS DE; HORSTHEMKE B
      THE LANGER-GIEDION SYNDROME - MOLECULAR DISSECTION OF A CONTIGUOUS GENE SYNDROME

      Cytogenetics and cell genetics
    87. WELLS D; HOU J; WANG Y; SAPRU M; BROWN N; PARRISH J; LUDECKE HJ; HORSTHEMKE B; WAGNER M
      A DETAILED INTEGRATED MAP OF 5 MEGABASES IN 8Q24.1 COVERING THE LANGER-GIEDION-SYNDROME REGION

      Cytogenetics and cell genetics
    88. GILLESSENKAESBACH G; ALBRECHT B; PASSARGE E; HORSTHEMKE B
      FURTHER PATIENT WITH ANGELMAN SYNDROME DUE TO PATERNAL DISOMY OF CHROMOSOME-15 AND A MILDER PHENOTYPE

      American journal of medical genetics
    89. BORNFELD N; PRESCHER G; HORSTHEMKE B; BECHER R
      MONOSOMY-3 IS CORRELATED WITH POOR-RISK FACTORS IN UVEAL MALIGNANT-MELANOMA

      Investigative ophthalmology & visual science
    90. SZIJAN I; LOHMANN DR; PARMA DL; BRANDT B; HORSTHEMKE B
      IDENTIFICATION OF RB1 GERMLINE MUTATIONS IN ARGENTINEAN FAMILIES WITHSPORADIC BILATERAL RETINOBLASTOMA

      Journal of Medical Genetics
    91. GILLESSENKAESBACH G; GROSS S; KAYAWESTERLOH S; PASSARGE E; HORSTHEMKE B
      DNA METHYLATION BASED TESTING OF 450 PATIENTS SUSPECTED OF HAVING PRADER-WILLI-SYNDROME

      Journal of Medical Genetics
    92. 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
    93. KUBOTA T; SUTCLIFFE JS; KAYAWESTERLOH S; BEAUDET AL; HORSTHEMKE B; LEDBETTER DH
      MOLECULAR DIAGNOSIS FOR PRADER-WILLI-SYNDROME USING PARENT-OF-ORIGIN SPECIFIC DNA METHYLATION IN THE CPG ISLAND AT THE 5' END OF THE SNRPN GENE

      American journal of human genetics
    94. LUDECKE HJ; AHN J; LINDOW S; WAGNER M; WELLS D; HORSTHEMKE B
      IDENTIFICATION OF THE GENE FOR MULTIPLE EXOSTOSES (EXT1) ON CHROMOSOME 8Q24.1 BY ANALYZING THE T(4-8) BREAKPOINT IN A PATIENT WITH EXT AND GOLDENHAR-LIKE PHENOTYPE

      American journal of human genetics
    95. WELLS D; AHN J; HILL A; LIN X; WAGNER M; LUDECKE HJ; LINDOW S; HORSTHEMKE B
      THE GENE ENCODING HEREDITARY MULTIPLE EXOSTOSES TYPE-1 MAY ENCODE A NOVEL TUMOR-SUPPRESSOR GENE

      American journal of human genetics
    96. 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
    97. 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
    98. LIN X; AHN J; HILL A; LUDECKE HJ; HORSTHEMKE B; WAGNER M; WELLS D
      THE HUMAN HEREDITARY MULTIPLE EXOSTOSES TYPE-1 (EXT1) GENE SPANS 350 KB WITH IN THE LANGER-GIEDION CHROMOSOMAL REGION IN 8Q24.1

      American journal of human genetics
    99. 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
    100. LEMERRER M; LEGEAIMALLET L; JEANNIN PM; HORSTHEMKE B; SCHINZEL A; PLAUCHU H; TOUTAIN A; ACHARD F; MUNNICH A; MAROTEAUX P
      A GENE FOR HEREDITARY MULTIPLE EXOSTOSES MAPS TO CHROMOSOME 19P

      Human molecular genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/10/20 alle ore 01:12:28