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    1. Wiemann, S; Weil, B; Wellenreuther, R; Gassenhuber, J; Glassl, S; Ansorge, W; Bocher, M; Blocker, H; Bauersachs, S; Blum, H; Lauber, J; Dusterhoft, A; Beyer, A; Kohrer, K; Strack, N; Mewes, HW; Ottenwalder, B; Obermaier, B; Tampe, J; Heubner, D; Wambutt, R; Korn, B; Klein, M; Poustka, A
      Toward a catalog of human genes and proteins: Sequencing and analysis of 500 novel complete protein coding human cDNAs

      GENOME RESEARCH
    2. Boer, JM; Huber, WK; Sultmann, H; Wilmer, F; von Heydebreck, A; Haas, S; Korn, B; Gunawan, B; Vente, A; Fuzesi, L; Vingron, M; Poustka, A
      Identification and classification of differentially expressed genes in renal cell carcinoma by expression profiling on a global human 31,500-element cDNA array

      GENOME RESEARCH
    3. Heiss, NS; Megarbane, A; Klauck, SM; Kreuz, FR; Makhoul, E; Majewski, F; Poustka, A
      One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC)

      GENETIC COUNSELING
    4. Palferman, S; Matthews, N; Turner, H; Moore, J; Hervas, A; Aubin, A; Wallace, S; Michelotti, J; Wainhouse, C; Paul, A; Thompson, E; Murin, M; Gupta, R; Garner, C; Pickles, A; Rutter, M; Bailey, A; Lamb, JA; Marlow, A; Scudder, P; Barnby, G; Monaco, AP; Baird, G; Cox, A; Docherty, Z; Warburton, P; Green, EP; Abbs, SJ; Le Couteur, A; McConachie, HR; Berney, T; Kelly, TP; De Vries, PJ; Bolton, P; Green, J; Gilchrist, A; Whittacker, J; Bolton, B; Packer, R; Maestrini, E; Van Engeland, H; De Jonge, MV; Kemner, C; Klauck, SM; Beyer, KS; Epp, S; Poustka, A; Benner, A; Poustka, F; Ruhl, D; Schmotzer, G; Bolte, S; Feineis-Matthews, S; Fombonne, E; Roge, B; Fremolle-Kruck, J; Pienkowski, C; Tauber, MT; Pedersen, L; Brondum-Nielsen, K; Eriksen, G; Haracopos, D; Cotterill, RMJ; Tsiantis, J; Papanikolaou, K; Lord, C; Corsello, C; Guter, S; Leventhal, B; Cook, E; Smalley, S; Bailey, J; Liu, A; Dedricks, M; Chrzanowski, L; Levitt, J; Pauls, D; Volkmar, F; Weeks, DE
      Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q

      HUMAN MOLECULAR GENETICS
    5. Beyer, KS; Klauck, SM; Wiemann, S; Poustka, A
      Construction of a physical map of an autism susceptibility region in 7q32.3-q33

      GENE
    6. Seranski, P; Hoff, C; Radelof, U; Hennig, S; Reinhardt, R; Schwartz, CE; Heiss, NS; Poustka, A
      RAI1 is a novel polyglutamine encoding gene that is deleted in Smith-Magenis syndrome patients

      GENE
    7. Hoff, C; Mollenhauer, J; Waldau, B; Hamann, U; Poustka, A
      Allelic imbalance and fine mapping of the 17p13.3 subregion in sporadic breast carcinomas

      CANCER GENETICS AND CYTOGENETICS
    8. McPherson, JD; Marra, M; Hillier, L; Waterston, RH; Chinwalla, A; Wallis, J; Sekhon, M; Wylie, K; Mardis, ER; Wilson, RK; Fulton, R; Kucaba, TA; Wagner-McPherson, C; Barbazuk, WB; Gregory, SG; Humphray, SJ; French, L; Evans, RS; Bethel, G; Whittaker, A; Holden, JL; McCann, OT; Dunham, A; Soderlund, C; Scott, CE; Bentley, DR; Schuler, G; Chen, HC; Jang, WH; Green, ED; Idol, JR; Maduro, VVB; Montgomery, KT; Lee, E; Miller, A; Emerling, S; Kucherlapati, R; Gibbs, R; Scherer, S; Gorrell, JH; Sodergren, E; Clerc-Blankenburg, K; Tabor, P; Naylor, S; Garcia, D; de Jong, PJ; Catanese, JJ; Nowak, N; Osoegawa, K; Qin, SZ; Rowen, L; Madan, A; Dors, M; Hood, L; Trask, B; Friedman, C; Massa, H; Cheung, VG; Kirsch, IR; Reid, T; Yonescu, R; Weissenbach, J; Bruls, T; Heilig, R; Branscomb, E; Olsen, A; Doggett, N; Cheng, JF; Hawkins, T; Myers, RM; Shang, J; Ramirez, L; Schmutz, J; Velasquez, O; Dixon, K; Stone, NE; Cox, DR; Haussler, D; Kent, WJ; Furey, T; Rogic, S; Kennedy, S; Jones, S; Rosenthal, A; Wen, GP; Schilhabel, M; Gloeckner, G; Nyakatura, G; Siebert, R; Schlegelberger, B; Korenburg, J; Chen, XN; Fujiyama, A; Hattori, M; Toyoda, A; Yada, T; Park, HS; Sakaki, Y; Shimizu, N; Asakawa, S; Kawasaki, K; Sasaki, T; Shintani, A; Shimizu, A; Shibuya, K; Kudoh, J; Minoshima, S; Ramser, J; Seranski, P; Hoff, C; Poustka, A; Reinhardt, R; Lehrach, H
      A physical map of the human genome

      NATURE
    9. Gunawan, B; Huber, W; Holtrup, M; von Heydebreck, A; Efferth, T; Poustka, A; Ringert, RH; Jakse, G; Fuzesi, L
      Prognostic impacts of cytogenetic findings in clear cell renal cell carcinoma: Gain of 5q31-qter predicts a distinct clinical phenotype with favorable prognosis

      CANCER RESEARCH
    10. Palferman, S; Matthews, N; Turner, M; Moore, J; Hervas, A; Aubin, A; Wallace, S; Michelotti, J; Wainhouse, C; Paul, A; Thompson, E; Gupta, R; Garner, C; Murin, M; Freitag, C; Ryder, N; Cottington, E; Parr, J; Pickles, A; Rutter, M; Bailey, A; Barnby, G; Lamb, JA; Marlow, A; Scudder, P; Monaco, AP; Baird, G; Cox, A; Docherty, Z; Warburton, P; Green, EP; Abbs, SJ; Le Couteur, A; McConachie, HR; Berney, T; Kelly, TP; De Vries, PJ; Bolton, PF; Green, J; Gilchrist, A; Whittacker, J; Bolton, B; Packer, R; Maestrini, E; Blasi, F; Van Engeland, H; De Jonge, MV; Kemner, C; Klauck, SM; Beyer, KS; Epp, S; Poustka, A; Benner, A; Goethe, JW; Poustka, F; Ruhl, D; Schmotzer, G; Boolte, S; Feineis-Matthews, S; Fombonne, E; Rogee, B; Fremolle-Kruck, J; Pienkowski, C; Tauber, MT; Pedersen, L; Nielsen, KB; Eriksen, G; Haracopos, D; Cotterill, RMJ; Tsiantis, J; Papanikolaou, K; Lord, C; Corsello, C; Guter, S; Leventhal, B; Cook, E; Smalley, SL; Bailey, J; McGough, J; Levitt, J; Pauls, D; Volkmar, F; Weeks, DE
      A genomewide screen for autism: Strong evidence for linkage to chromosomes2q, 7q, and 16p

      AMERICAN JOURNAL OF HUMAN GENETICS
    11. Simpson, JC; Wellenreuther, R; Poustka, A; Pepperkok, R; Wiemann, S
      Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing

      EMBO REPORTS
    12. Beissbarth, T; Fellenberg, K; Brors, B; Arribas-Prat, R; Boer, JM; Hauser, NC; Scheideler, M; Hoheisel, JD; Schutz, G; Poustka, A; Vingron, M
      Processing and quality control of DNA array hybridization data

      BIOINFORMATICS
    13. Mallon, AM; Platzer, M; Bate, R; Gloeckner, G; Botcherby, MRM; Nordsiek, G; Strivens, MA; Kioschis, P; Dangel, A; Cunningham, D; Straw, RNA; Weston, P; Gilbert, M; Fernando, S; Goodall, K; Hunter, G; Greystrong, JS; Clarke, D; Kimberley, C; Goerdes, M; Blechschmidt, K; Rump, A; Hinzmann, B; Mundy, CR; Miller, W; Poustka, A; Herman, GE; Rhodes, M; Denny, P; Rosenthal, A; Brown, SDM
      Comparative genome sequence analysis of the Bpa/Str region in mouse and man

      GENOME RESEARCH
    14. Finzer, P; Soto, U; Delius, H; Patzelt, A; Coy, JF; Poustka, A; zur Hausen, H; Rosl, F
      Differential transcriptional regulation of the monocyte-chemoattractant protein-1 (MCP-1) gene in tumorigenic and non-tumorigenic HPV 18 positive cells: The role of the chromatin structure and AP-1 composition

      ONCOGENE
    15. Reichwald, K; Thiesen, J; Wiehe, T; Weitzel, J; Stratling, WH; Kioschis, P; Poustka, A; Rosenthal, A; Platzer, M
      Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions

      MAMMALIAN GENOME
    16. Hoff, C; Seranski, P; Mollenhauer, J; Korn, B; Detzel, T; Reinhardt, R; Ramser, J; Poustka, A
      Physical and transcriptional mapping of the 17p13.3 region that is frequently deleted in human cancer

      GENOMICS
    17. Heiss, NS; Bachner, D; Salowsky, R; Kolb, A; Kioschis, P; Poustka, A
      Gene structure and expression of the mouse dyskeratosis congenita gene, Dkc1

      GENOMICS
    18. Briault, S; Villard, L; Rogner, U; Coy, J; Odent, S; Lucas, J; Passage, E; Zhu, DP; Shrimpton, A; Pembrey, M; Till, M; Guichet, A; Dessay, S; Fontes, M; Poustka, A; Moraine, C
      Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: A second FG locus [FGS2]?

      AMERICAN JOURNAL OF MEDICAL GENETICS
    19. Aradhya, S; Ahobila, P; Lewis, RA; Nelson, DL; Esposito, T; Ciccodicola, A; Bardaro, T; D'Urso, M; Woffendin, H; Kenwrick, S; Smahi, A; Heuertz, S; Munnich, A; Heiss, NS; Poustka, A; Chishti, AH
      Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2

      AMERICAN JOURNAL OF MEDICAL GENETICS
    20. Aradhya, S; Nelson, DL; Heiss, NS; Poustka, A; Woffendin, H; Kenwrick, S; Esposito, T; Ciccodicola, A; Bardaro, T; D'Urso, M; Smahi, A; Munnich, A; Herman, GE; Lewis, RA
      Human homologue of the murine Bare patches/Striated gene is not mutated inIncontinentia Pigmenti type 2

      AMERICAN JOURNAL OF MEDICAL GENETICS
    21. Yaghmai, R; Kimyai-Asadi, A; Rostamiani, K; Heiss, NS; Poustka, A; Eyaid, W; Bodurtha, J; Nousari, HC; Hamosh, A; Metzenberg, A
      Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome

      JOURNAL OF PEDIATRICS
    22. von Deimling, A; Fimmers, R; Schmidt, MC; Bender, B; Fassbender, F; Nagel, J; Jahnke, R; Kaskel, P; Duerr, EM; Koopmann, J; Maintz, D; Steinbeck, S; Wick, W; Platten, M; Muller, DJ; Przkora, R; Waha, A; Blumcke, B; Wellenreuther, R; Meyer-Puttlitz, B; Schmidt, O; Mollenhauer, J; Poustka, A; Stangl, AP; Lenartz, D; von Ammon, K; Henson, JW; Schramm, J; Louis, DN; Wiestler, OD
      Comprehensive allelotype and genetic analysis of 466 human nervous system tumors

      JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
    23. Mollenhauer, J; Herbertz, S; Holmskov, U; Tolnay, M; Krebs, I; Merlo, A; Schroder, HD; Maier, D; Breitling, F; Wiemann, S; Grone, HJ; Poustka, A
      DMBT1 encodes a protein involved in the immune defense and in epithelial differentiation and is highly unstable in cancer

      CANCER RESEARCH
    24. Los, M; Neubuser, D; Coy, JF; Mozoluk, M; Poustka, A; Schulze-Osthoff, K
      Functional characterization of DNase X, a novel endonuclease expressed in muscle cells

      BIOCHEMISTRY
    25. Vente, A; Korn, B; Zehetner, G; Poustka, A; Lehrach, H
      Distribution and early development of microarray technology in Europe

      NATURE GENETICS
    26. Scheurlen, WG; Schwabe, GC; Seranski, P; Joos, S; Harbott, J; Metzke, S; Dohner, H; Poustka, A; Wilgenbus, K; Haas, OA
      Mapping of the breakpoints on the short arm of chromosome 17 in neoplasms with an i(17q)

      GENES CHROMOSOMES & CANCER
    27. Coy, JF; Sedlacek, Z; Bachner, D; Delius, H; Poustka, A
      A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3 '-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression

      HUMAN MOLECULAR GENETICS
    28. Heiss, NS; Girod, A; Salowsky, R; Wiemann, S; Pepperkok, R; Poustka, A
      Dyskerin localizes to the nucleolus and its mislocalization is unlikely toplay a role in the pathogenesis of dyskeratosis congenita

      HUMAN MOLECULAR GENETICS
    29. Mollenhauer, J; Holmskov, U; Wiemann, S; Krebs, I; Herbertz, S; Madsen, J; Kioschis, P; Coy, JF; Poustka, A
      The genomic structure of the DMBT1 gene: evidence for a region with susceptibility to genomic instability

      ONCOGENE
    30. Monaghan, AP; Kioschis, P; Wu, W; Zuniga, A; Bock, D; Poustka, A; Delius, H; Niehrs, C
      Dickkopf genes are co-ordinately expressed in mesodermal lineages

      MECHANISMS OF DEVELOPMENT
    31. Sedlacek, Z; Munstermann, E; Dhorne-Pollet, S; Otto, C; Bock, D; Schutz, G; Poustka, A
      Human and mouse XAP-5 and XAP-5-like (X5L) genes: Identification of an ancient functional retroposon differentially expressed in testis

      GENOMICS
    32. Seranski, P; Heiss, NS; Dhorne-Pollet, S; Radelof, U; Korn, B; Hennig, S; Backes, E; Schmidt, S; Wiemann, S; Schwarz, CE; Lehrach, H; Poustka, A
      Transcription mapping in a medulloblastoma breakpoint interval and Smith-Magenis syndrome candidate region: Identification of 53 transcriptional units and new candidate genes

      GENOMICS
    33. Sedlacek, Z; Shimeld, SM; Munstermann, E; Poustka, A
      The amphioxus rab GDP-dissociation inhibitor (GDI) gene is neural-specific: Implications for the evolution of chordate rab GDI genes

      MOLECULAR BIOLOGY AND EVOLUTION
    34. Wolf, S; Sharpe, LT; Schmidt, HJA; Knau, H; Weitz, S; Kioschis, P; Poustka, A; Zrenner, E; Lichter, P; Wissinger, B
      Direct visual resolution of gene copy number in the human photopigment gene array

      INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
    35. Holmskov, U; Mollenhauer, J; Madsen, J; Vitved, L; Gronlund, J; Tornoe, I; Kliem, A; Reid, KBM; Poustka, A; Skjodt, K
      Cloning of gp-340, a putative opsonin receptor for lung surfactant proteinD

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    36. Heiss, NS; Poustka, A; Knight, SW; Aradhya, S; Nelson, DL; Lewis, RA; Esposito, T; Ciccodicola, A; D'Urso, M; Smahi, A; Heuertz, S; Munnich, A; Vabres, P; Woffendin, H; Kenwrick, S
      Mutation analysis of the DKC1 gene in incontinentia pigmenti

      JOURNAL OF MEDICAL GENETICS
    37. Knight, SW; Heiss, NS; Vulliamy, TJ; Aalfs, CM; McMahon, C; Richmond, P; Jones, A; Hennekam, RCM; Poustka, A; Mason, PJ; Dokal, I
      Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1

      BRITISH JOURNAL OF HAEMATOLOGY
    38. Vulliamy, TJ; Knight, SW; Heiss, NS; Smith, OP; Poustka, A; Dokal, I; Mason, PJ
      Dyskeratosis congenita caused by a 3 ' deletion: Germline and somatic mosaicism in a female carrier

      BLOOD
    39. Knight, SW; Heiss, NS; Vulliamy, TJ; Greschner, S; Stavrides, G; Pai, GS; Lestringant, G; Varma, N; Mason, PJ; Dokal, I; Poustka, A
      X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene

      AMERICAN JOURNAL OF HUMAN GENETICS
    40. HEISS NS; KNIGHT SW; VULLIAMY TJ; KLAUCK SM; WIEMANN S; MASON PJ; POUSTKA A; DOKAL I
      X-LINKED DYSKERATOSIS-CONGENITA IS CAUSED BY MUTATIONS IN A HIGHLY CONSERVED GENE WITH PUTATIVE NUCLEOLAR FUNCTIONS

      Nature genetics
    41. MILANI N; MULHARDT C; WEBER RG; LICHTER P; KIOSCHIS P; POUSTKA A; BECKER CM
      THE HUMAN GLYCINE RECEPTOR-BETA SUBUNIT GENE (GLRB) - STRUCTURE, REFINED CHROMOSOMAL LOCALIZATION AND POPULATION POLYMORPHISM

      European journal of neuroscience
    42. SEDLACEK Z; MUNSTERMANN E; MINCHEVA A; LICHTER P; POUSTKA A
      THE HUMAN RAB GDI BETA-GENE WITH LONG RETROPOSON-RICH INTRONS MAPS TO10P15 AND ITS PSEUDOGENE TO 7P11-P13

      Mammalian genome
    43. Poustka, A; Lehrach, H
      Molecular analysis from Xq27.3 to Xqter

      HUMAN GENOME ANALYSIS
    44. Lehrach, H; Poustka, A; Nizetic, D
      Maintenance and expansion of the centralized facility on cosmid libraries for a European consortium on ordered clone libraries

      HUMAN GENOME ANALYSIS
    45. MILANI N; MULHARDT C; WEBER RG; LICHTER P; KIOSCHIS P; POUSTKA A; BECKER CM
      THE HUMAN GLYCINE RECEPTOR-BETA SUBUNIT GENE (GLRB) - STRUCTURE, REFINED CHROMOSOMAL LOCALIZATION, AND POPULATION POLYMORPHISM

      Genomics (San Diego, Calif.)
    46. Kioschis, P; Wiemann, S; Heiss, NS; Francis, F; Gotz, C; Poustka, A; Taudien, S; Platzer, M; Wiehe, T; Beckmann, G; Weber, J; Nordsiek, G; Rosenthal, A
      Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1)

      GENOMICS
    47. HAAS S; VINGRON M; POUSTKA A; WIEMANN S
      PRIMER DESIGN FOR LARGE-SCALE SEQUENCING

      Nucleic acids research
    48. SEDLACEK Z; KODET R; POUSTKA A; GOETZ P
      A DATABASE OF GERMLINE P53 MUTATIONS IN CANCER-PRONE FAMILIES

      Nucleic acids research
    49. Radelof, U; Hennig, S; Seranski, P; Steinfath, M; Ramser, J; Reinhardt, R; Poustka, A; Francis, F; Lehrach, H
      Preselection of shotgun clones by oligonucleotide fingerprinting: an efficient and high throughput strategy to reduce redundancy in large-scale sequencing projects

      NUCLEIC ACIDS RESEARCH
    50. KISCHKEL FC; KIOSCHIS P; WEITZ S; POUSTKA A; LICHTER P; KRAMMER PH
      ASSIGNMENT OF CASP8 TO HUMAN-CHROMOSOME BAND 2Q33-]Q34 AND CASP8 TO THE MURINE SYNTENIC REGION ON CHROMOSOME-1B-PROXIMAL-C BY IN-SITU HYBRIDIZATION

      Cytogenetics and cell genetics
    51. KLAUCK SM; POUSTKA F; BENNER A; SPIELER A; POUSTKA A
      SEARCHING FOR SUSCEPTIBILITY GENES FOR INFANTILE-AUTISM

      American journal of medical genetics
    52. KNIGHT SW; VULLIAMY TJ; HEISS NS; MATTHIJS G; DEVRIENDT K; CONNOR JM; DURSO M; POUSTKA A; MASON PJ; DOKAL I
      1.4 MB CANDIDATE GENE REGION FOR X-LINKED DYSKERATOSIS-CONGENITA DEFINED BY COMBINED HAPLOTYPE AND X-CHROMOSOME INACTIVATION ANALYSIS

      Journal of Medical Genetics
    53. NIKOLIC Z; LAUBE B; WEBER RG; LICHTER P; KIOSCHIS P; POUSTKA A; MULHARDT C; BECKER CM
      THE HUMAN GLYCINE RECEPTOR SUBUNIT ALPHA-3 - GLRA3 GENE STRUCTURE, CHROMOSOMAL LOCALIZATION, AND FUNCTIONAL-CHARACTERIZATION OF ALTERNATIVETRANSCRIPTS

      The Journal of biological chemistry
    54. HEISS NS; KNIGHT SW; VULLIAMY TJ; KLAUCK SM; WIEMANN S; MASON PJ; POUSTKA A; DOKAL I
      X-LINKED DYSKERATOSIS-CONGENITA IS CAUSED BY MUTATIONS IN A HIGHLY CONSERVED GENE ENCODING A PROTEIN WITH PUTATIVE NUCLEOLAR FUNCTIONS

      British Journal of Haematology
    55. SEDLACEK Z; KODET R; KRIZ V; SEEMANOVA E; VODVARKA P; WILGENBUS P; MARES J; POUSTKA A; GOETZ P
      2 LI-FRAUMENI-SYNDROME FAMILIES WITH NOVEL GERMLINE P53 MUTATIONS - LOSS OF THE WILD-TYPE P53 ALLELE IN ONLY 50-PERCENT OF TUMORS

      British Journal of Cancer
    56. MOLLENHAUER J; WIEMANN S; SCHEURLEN W; KORN B; HAYASHI Y; WILGENBUS KK; VONDEIMLING A; POUSTKA A
      DMBT1, A NEW MEMBER OF THE SRCR SUPERFAMILY, ON CHROMOSOME 10Q25.3-26.1 IS DELETED IN MALIGNANT BRAIN-TUMORS

      Nature genetics
    57. SCHEURLEN WG; SERANSKI P; MINCHEVA A; KUHL J; SORENSEN N; KRAUSS J; LICHTER P; POUSTKA A; WILGENBUS KK
      HIGH-RESOLUTION DELETION MAPPING OF CHROMOSOME ARM 17P IN CHILDHOOD PRIMITIVE NEUROECTODERMAL TUMORS REVEALS A COMMON CHROMOSOMAL DISRUPTION WITHIN THE SMITH-MAGENIS REGION, AN UNSTABLE REGION IN CHROMOSOME BAND 17P11.2

      Genes, chromosomes & cancer
    58. KLAUCK SM; POUSTKA F; BENNER A; LESCH KP; POUSTKA A
      SEROTONIN TRANSPORTER (5-HTT) GENE VARIANTS ASSOCIATED WITH AUTISM

      Human molecular genetics
    59. WILKE K; GAUL R; KLAUCK SM; POUSTKA A
      A GENE IN HUMAN-CHROMOSOME BAND XQ28 (GABRE) DEFINES A PUTATIVE NEW SUBUNIT CLASS OF THE GABA(A) NEUROTRANSMITTER RECEPTOR

      Genomics
    60. HEISS NS; POUSTKA A
      GENOMIC STRUCTURE OF A NOVEL CHLORIDE CHANNEL GENE, CLIC2, IN XQ28

      Genomics
    61. HEISS NS; GLOECKNER G; BACHNER D; KIOSCHIS P; KLAUCK SM; HINZMANN B; ROSENTHAL A; HERMAN GE; POUSTKA A
      GENOMIC STRUCTURE OF A NOVEL LIM DOMAIN GENE (ZNF185) IN XQ28 AND COMPARISONS WITH THE ORTHOLOGOUS MURINE TRANSCRIPT

      Genomics
    62. WILGENBUS KK; SERANSKI P; BROWN A; LEUCHS B; MINCHEVA A; LICHTER P; POUSTKA A
      MOLECULAR CHARACTERIZATION OF A GENETICALLY UNSTABLE REGION CONTAINING THE SMS CRITICAL AREA AND A BREAKPOINT CLUSTER FOR HUMAN PNETS

      Genomics
    63. LAPORTE J; KIOSCHIS P; HU LJ; KRETZ C; CARLSSON B; POUSTKA A; MANDEL JL; DAHL N
      CLONING AND CHARACTERIZATION OF AN ALTERNATIVELY SPLICED GENE IN PROXIMAL XQ28 DELETED IN 2 PATIENTS WITH INTERSEXUAL GENITALIA AND MYOTUBULAR MYOPATHY

      Genomics
    64. ALBIG W; KIOSCHIS P; POUSTKA A; MEERGANS K; DOENECKE D
      HUMAN HISTONE GENE ORGANIZATION - NONREGULAR ARRANGEMENT WITHIN A LARGE CLUSTER

      Genomics
    65. WILKE K; WIEMANN S; GAUL R; GONG WL; POUSTKA A
      ISOLATION OF HUMAN AND MOUSE HMG2A CDNAS - EVIDENCE FOR AN HMG2A-SPECIFIC 3'-UNTRANSLATED REGION

      Gene
    66. KLAUCK SM; MUNSTERMANN E; BIEBERMARTIG B; RUHL D; LISCH S; SCHMOTZER G; POUSTKA A; POUSTKA F
      MOLECULAR-GENETIC ANALYSIS OF THE FMR-1 GENE IN A LARGE COLLECTION OFAUTISTIC PATIENTS

      Human genetics
    67. YASPO ML; SZULZEDSKY I; HAAF T; KORN B; BURGTORF C; POUSTKA A; LEHRACH H
      PROGRESS IN CONSTRUCTING A TRANSCRIPT MAP FOR CHR21 - ANALYSIS AND DISTRIBUTION OF GENES ISOLATED FROM 20 MB OF RANDOM DNA

      Cytogenetics and cell genetics
    68. LESCH KP; MEYER J; GLATZ K; FLUGGE G; HINNEY A; HEBEBRAND J; KLAUCK SM; POUSTKA A; POUSTKA F; BENGEL D; MOSSNER R; RIEDERER P; HEILS A
      THE 5-HT TRANSPORTER GENE-LINKED POLYMORPHIC REGION (5-HTTLPR) IN EVOLUTIONARY PERSPECTIVE - ALTERNATIVE BIALLELIC VARIATION IN RHESUS-MONKEYS

      Journal of neural transmission
    69. KLAUCK SM; POUSTKA F; BENNER A; SPIELER A; LESCH KP; POUSTKA A
      ASSOCIATION OF THE SEROTONIN TRANSPORTER (5-HTT) PROMOTER LONG VARIANT WITH AUTISM

      American journal of medical genetics
    70. BRIAULT S; HILL R; SHRIMPTON A; ZHU DP; TILL M; RONCE N; MARGARITTEJEANNIN P; BARAITSER M; MIDDLETONPRICE H; MALCOLM S; THOMPSON E; HOO J; WILSON G; ROMANO C; GUICHET A; PEMBREY M; FONTES M; POUSTKA A; MORAINE C
      A GENE FOR FG-SYNDROME MAPS IN THE XQ12-Q21.31 REGION

      American journal of medical genetics
    71. MOLLENHAUER J; WIEMANN S; SCHEURLEN W; KORN B; HAYASHI Y; VONDEIMLING A; POUSTKA A
      DMBT1, A NEW MEMBER OF THE SRCR SUPERFAMILY, IS DELETED IN MALIGNANT BRAIN-TUMORS

      American journal of human genetics
    72. SERANSKI P; POLLET S; KORN B; WIEMANN S; HEISS N; POUSTKA A
      TRANSCRIPT MAPPING AND GENOMIC CHARACTERIZATION IN AN UNSTABLE INTERVAL ON CHROMOSOME 17P11.2

      American journal of human genetics
    73. WILKE K; GAUL R; POUSTKA A
      A GENE IN HUMAN-CHROMOSOME BAND XQ28 DEFINES THE PUTATIVE NEW SUBUNITCLASS-EPSILON OF THE GABA(A) NEUROTRANSMITTER RECEPTOR

      American journal of human genetics
    74. KLAUCK SM; POUSTKA F; BENNER A; SPIELER A; LESCH KP; POUSTKA A
      ASSOCIATION OF THE SEROTONIN TRANSPORTER (5-HTT) PROMOTER LONG VARIANT WITH AUTISM

      American journal of human genetics
    75. VINCENT JB; KONECKI DS; MUNSTERMANN E; BOLTON P; POUSTKA A; POUSTKA F; GURLING HMD
      POINT MUTATION ANALYSIS OF THE FMR-1 GENE IN AUTISM

      Molecular psychiatry
    76. COY JF; VELHAGEN I; HIMMELE R; DELIUS H; POUSTKA A; ZENTGRAF H
      ISOLATION, DIFFERENTIAL SPLICING AND PROTEIN EXPRESSION OF A DNASE ONTHE HUMAN X-CHROMOSOME

      Cell death and differentiation
    77. 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
    78. LAPORTE J; HU LJ; KRETZ C; MANDEL JL; KIOSCHIS P; COY JF; KLAUCK SM; POUSTKA A; DAHL N
      A GENE MUTATED IN X-LINKED MYOTUBULAR MYOPATHY DEFINES A NEW PUTATIVETYROSINE PHOSPHATASE FAMILY CONSERVED IN YEAST

      Nature genetics
    79. HEISS NS; ROGNER UC; KIOSCHIS P; KORN B; POUSTKA A
      TRANSCRIPTIONAL MAPPING IN A 700-KB REGION AROUND THE DXS52 LOCUS IN XQ28 - ISOLATION OF 6 NOVEL TRANSCRIPTS AND A NOVEL ATPASE ISOFORM (HPMCA5)

      PCR methods and applications
    80. ROGNER UC; HEISS NS; KIOSCHIS P; WIEMANN S; KORN B; POUSTKA A
      TRANSCRIPTIONAL ANALYSIS OF THE CANDIDATE REGION FOR INCONTINENTIA PIGMENTI (IP2) IN XQ28

      PCR methods and applications
    81. CROLLIUS HR; ROSS MT; GRIGORIEV A; KNIGHTS CJ; HOLLOWAY E; MISFUD J; LI K; PLAYFORD M; GREGORY SG; HUMPHRAY SJ; COFFEY AJ; SEE CG; MARSH S; VATCHEVA R; KUMLIEN J; LABELLA T; LAM V; RAK KH; TODD K; MOTT R; GRAESER D; RAPPOLD G; ZEHETNER G; POUSTKA A; BENTLEY DR; MONACO AP; LEHRACH H
      AN INTEGRATED YAC MAP OF THE HUMAN X-CHROMOSOME

      PCR methods and applications
    82. HU LJ; LAPORTE J; KRESS W; KIOSCHIS P; SIEBENHAAR R; POUSTKA A; FARDEAU M; METZENBERG A; JANSSEN EA; THOMAS N; MANDEL JL; DAHL N
      DELETIONS IN XQ28 IN 2 BOYS WITH MYOTUBULAR MYOPATHY AND ABNORMAL GENITAL DEVELOPMENT DEFINE A NEW CONTIGUOUS GENE SYNDROME IN A 430 KB REGION

      Human molecular genetics
    83. SANDOVAL N; BAUER D; BRENNER V; COY JF; DRESCHER B; KIOSCHIS P; KORN B; NYAKATURA G; POUSTKA A; REICHWALD K; ROSENTHAL A; PLATZER M
      THE GENOMIC ORGANIZATION OF A HUMAN CREATINE TRANSPORTER (CRTR) GENE LOCATED IN XQ28

      Genomics
    84. KIOSCHIS P; ROGNER UC; PICK E; KLAUCK SM; HEISS N; SIEBENHAAR R; KORN B; COY JF; LAPORTE J; LIECHTIGALLATI S; POUSTKA A
      A 900-KB COSMID CONTIG AND 10 NEW TRANSCRIPTS WITHIN THE CANDIDATE REGION FOR MYOTUBULAR MYOPATHY (MTM1)

      Genomics
    85. COY JF; DUBEL S; KIOSCHIS P; THOMAS K; MICKLEM G; DELIUS H; POUSTKA A
      MOLECULAR-CLONING OF TISSUE-SPECIFIC TRANSCRIPTS OF A TRANSKETOLASE-RELATED GENE - IMPLICATIONS FOR THE EVOLUTION OF NEW VERTEBRATE GENES

      Genomics
    86. HU LJ; LAPORTE J; KIOSCHIS P; HEYBERGER S; KRETZ C; POUSTKA A; MANDEL JL; DAHL N
      X-LINKED MYOTUBULAR MYOPATHY - REFINEMENT OF THE GENE TO A 280-KB REGION WITH NEW AND HIGHLY INFORMATIVE MICROSATELLITE MARKERS

      Human genetics
    87. WILGENBUS KK; COY JF; MINCHEVA A; NICOLAI H; SOLOMON E; LICHTER P; POUSTKA A
      ORDERING OF 66 STSS ALONG THE ENTIRE SHORT ARM OF HUMAN-CHROMOSOME-17AND CHROMOSOME ASSIGNMENT OF A TRANSCRIBED SEQUENCE (FMR1L2) HOMOLOGOUS TO FMR1

      Cytogenetics and cell genetics
    88. FRANCIS F; HENNIG S; KORN B; REINHARDT R; DEJONG P; POUSTKA A; LEHRACH H; ROWE PSN; GOULDING JN; SUMMERFIELD T; MOUNTFORD R; READ AP; POPOWSKA E; PRONICKA E; DAVIES KE; ORIORDAN JLH; ECONS MJ; NESBITT T; DREZNER MK; OUDET C; PANNETIER S; HANAUER A; STROM TM; MEINDL A; LORENZ B; CAGNOLI M; MOHNIKE KL; MURKEN J; MEITINGER T
      A GENE (PEX) WITH HOMOLOGIES TO ENDOPEPTIDASES IS MUTATED IN PATIENTSWITH X-LINKED HYPOPHOSPHATEMIC RICKETS

      Nature genetics
    89. BACHNER D; SEDLACEK Z; KORN B; HAMEISTER H; POUSTKA A
      EXPRESSION PATTERNS OF 2 HUMAN GENES-CODING FOR DIFFERENT RAB GDP-DISSOCIATION INHIBITORS (GDIS), EXTREMELY CONSERVED PROTEINS INVOLVED IN CELLULAR-TRANSPORT

      Human molecular genetics
    90. COY JF; SEDLACEK Z; BACHNER D; HAMEISTER H; JOOS S; LICHTER P; DELIUS H; POUSTKA A
      HIGHLY CONSERVED 3'-UTR AND EXPRESSION PATTERN OF FXR1 POINTS TO A DIVERGENT GENE-REGULATION OF FXR1 AND FMR1

      Human molecular genetics
    91. KLAUCK SM; WILGENBUS P; YATES JRW; MULLER CR; POUSTKA A
      IDENTIFICATION OF NOVEL MUTATIONS IN 3 FAMILIES WITH EMERY-DREIFUSS MUSCULAR-DYSTROPHY

      Human molecular genetics
    92. STRAND D; UNGER S; CORVI R; HARTENSTEIN K; SCHENKEL H; KALMES A; MERDES G; NEUMANN B; KRIEGSCHNEIDER F; COY JF; POUSTKA A; SCHWAB M; MECHLER BM
      A HUMAN HOMOLOG OF THE DROSOPHILA TUMOR-SUPPRESSOR GENE L(2)GL MAPS TO 17P11.2-12 AND CODES FOR A CYTOSKELETAL PROTEIN THAT ASSOCIATES WITHNONMUSCLE MYOSIN-II HEAVY-CHAIN

      Oncogene
    93. ROGNER UC; WILKE K; STECK E; KORN B; POUSTKA A
      THE MELANOMA ANTIGEN GENE (MAGE) FAMILY IS CLUSTERED IN THE CHROMOSOMAL BAND XQ28

      Genomics
    94. OLSSON PG; SUTHERLAND HF; NOWICKA U; KORN B; POUSTKA A; FRISCHAUF AM
      THE MOUSE HOMOLOG OF THE TUBERIN GENE (TSC2) MAPS TO A CONSERVED SYNTENY GROUP BETWEEN MOUSE CHROMOSOME-17 AND HUMAN 16P13.3

      Genomics
    95. DOHNER H; FISCHER K; BENTZ M; HANSEN K; BENNER A; CABOT G; DIEHL D; SCHLENK R; COY J; STILGENBAUER S; VOLKMANN M; GALLE PR; POUSTKA A; HUNSTEIN W; LICHTER P
      P53 GENE DELETION PREDICTS FOR POOR SURVIVAL AND NONRESPONSE TO THERAPY WITH PURINE ANALOGS IN CHRONIC B-CELL LEUKEMIAS

      Blood
    96. 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
    97. VITS L; VANCAMP G; COUCKE P; FRANSEN E; DEBOULLE K; REYNIERS E; KORN B; POUSTKA A; WILSON G; SCHRANDERSTUMPEL C; WINTER RM; SCHWARTZ C; WILLEMS PJ
      MASA SYNDROME IS DUE TO MUTATIONS IN THE NEURAL CELL-ADHESION GENE L1CAM

      Nature genetics
    98. WEIL D; WANG I; DIETRICH A; POUSTKA A; WEISSENBACH J; PETIT C
      HIGHLY HOMOLOGOUS LOCI ON THE X-CHROMOSOME AND Y-CHROMOSOME ARE HOT-SPOTS FOR ECTOPIC RECOMBINATIONS LEADING TO XX-MALENESS

      Nature genetics
    99. ROGNER UC; KIOSCHIS P; WILKE K; GONG WL; PICK E; DIETRICH A; ZECHNER U; HAMEISTER H; PRAGLIOLA A; HERMAN GE; YATES JRW; LEHRACH H; POUSTKA A
      A YAC CLONE MAP SPANNING 7.5-MEGABASES OF HUMAN-CHROMOSOME BAND-XQ28

      Human molecular genetics
    100. JONES KA; BLACK DM; BROWN MA; GRIFFITHS BL; NICOLAI HM; CHAMBERS JA; BONJARDIM M; XU CF; BOYD M; MCFARLANE R; KORN B; POUSTKA A; NORTH MA; SCHALKWYK L; LEHRACH H; SOLOMON E
      THE DETAILED CHARACTERIZATION OF A 400-KB COSMID WALK IN THE BRCA1 REGION - IDENTIFICATION AND LOCALIZATION OF 10 GENES INCLUDING A DUAL-SPECIFICITY PHOSPHATASE

      Human molecular genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/08/20 alle ore 12:56:55