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    1. Pusch, CM; Maurer, J; Ramser, J; Tomiuk, J; Achatz, H; Pesch, K; Lichtner, P; Apfelstedt-Sylla, E; Jacobi, FK; Berger, W; Meindl, A; Wissinger, B
      Complete form of X-linked congenital stationary night blindness: Refined mapping and evidence of genetic homogeneity

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    2. Brandau, O; Meindl, A; Fassler, R; Aszodi, A
      A novel gene, tendin, is strongly expressed in tendons and ligaments and shows high homology with chondromodulin-I

      DEVELOPMENTAL DYNAMICS
    3. Ladanyi, M; Lui, MY; Antonescu, CR; Krause-Boehm, A; Meindl, A; Argani, P; Healey, JH; Ueda, T; Yoshikawa, H; Meloni-Ehrig, A; Sorensen, PHB; Mertens, F; Mandahl, N; van den Berghe, H; Sciot, R; Dal Cin, P; Bridge, J
      The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25

      ONCOGENE
    4. Rudolph, G; Meindl, A; Bechmann, M; Schworm, HD; Achatz, H; Boergen, KP; Kampik, A; Berninger, T; Meitinger, T
      X-linked ocular albinism (Nettleship-falls): a novel 29-bp deletion in exon 1. Carrier detection by ophthalmic examination and DNA analysis

      GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
    5. Atanassova, V; Meindl, A; Ring, C
      Prevalence of Staphylococcus aureus and staphylococcal enterotoxins in rawpork and uncooked smoked ham - a comparison of classical culturing detection and RFLP-PCR

      INTERNATIONAL JOURNAL OF FOOD MICROBIOLOGY
    6. Pusch, CM; Zeitz, C; Brandau, O; Pesch, K; Achatz, H; Feil, S; Scharfe, C; Maurer, J; Jacobi, FK; Pinckers, A; Andreasson, S; Hardcastle, A; Wissinger, B; Berger, W; Meindl, A
      The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

      NATURE GENETICS
    7. Vervoort, R; Lennon, A; Bird, AC; Tulloch, B; Axton, R; Miano, MG; Meindl, A; Meitinger, T; Ciccodicola, A; Wright, AF
      Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

      NATURE GENETICS
    8. Zemni, R; Bienvenu, T; Vinet, MC; Sefiani, A; Carrie, A; Billuart, P; McDonell, N; Couvert, P; Francis, F; Chafey, P; Fauchereau, F; Friocourt, G; des Portes, V; Cardona, A; Frints, S; Meindl, A; Brandau, O; Ronce, N; Moraine, C; van Bokhoven, H; Ropers, HH; Sudbrak, R; Kahn, A; Fryns, JP; Beldjord, R; Chelly, J
      A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation

      NATURE GENETICS
    9. Jacobi, FK; Broghammer, M; Pesch, K; Zrenner, E; Berger, W; Meindl, A; Pusch, CM
      Physical mapping and exclusion of GPR34 as the causative gene for congenital stationary night blindness type 1

      HUMAN GENETICS
    10. Strahm, B; Rittweiler, K; Duffner, U; Brandau, O; Orlowska-Volk, M; Karajannis, MA; zur Stadt, U; Tiemann, M; Reiter, A; Brandis, M; Meindl, A; Niemeyer, CM
      Recurrent B-cell non-Hodgkin's lymphoma in two brothers with X-linked lymphoproliferative disease without evidence for Epstein-Barr virus infection

      BRITISH JOURNAL OF HAEMATOLOGY
    11. Matzdorff, A; Meindl, A; Pralle, H
      Wiskott-Aldrich syndrome in an adult

      DEUTSCHE MEDIZINISCHE WOCHENSCHRIFT
    12. Derry, JMJ; Gormally, E; Means, GD; Zhao, W; Meindl, A; Kelley, RI; Boyd, Y; Herman, GE
      Mutations in a Delta(8)-Delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata

      NATURE GENETICS
    13. Brandau, O; Schuster, V; Weiss, M; Hellebrand, H; Fink, FM; Kreczy, A; Friedrich, W; Strahm, B; Niemeyer, C; Belohradsky, BH; Meindl, A
      Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP)

      HUMAN MOLECULAR GENETICS
    14. Schmutzler, RK; Derakhshandeh-Peykar, P; Freihoff, D; Brandau, O; Meindl, A
      Low incidence of germline and somatic alterations in the E-cadherin gene in lobular breast carcinoma

      DISEASE MARKERS
    15. Backe, J; Hofferbert, S; Skawran, B; Dork, T; Stuhrmann, M; Karstens, JH; Untch, M; Meindl, A; Burgemeister, R; Chang-Claude, J; Weber, BHF
      Frequency of BRCA1 mutation 5382insC in German breast cancer patients

      GYNECOLOGIC ONCOLOGY
    16. Meindl, A; Osterrieder, N
      The equine herpesvirus 1 U(S)2 homolog encodes a nonessential membrane-associated virion component

      JOURNAL OF VIROLOGY
    17. Freihoff, D; Kempe, A; Beste, B; Wappenschmidt, B; Kreyer, E; Hayashi, Y; Meindl, A; Krebs, D; Wiestler, OD; von Deimling, A; Schmutzler, RK
      Exclusion of a major role for the PTEN tumour-suppressor gene in breast carcinomas

      BRITISH JOURNAL OF CANCER
    18. Neubauer, A; Meindl, A; Osterrieder, N
      Mutations within the US2 and glycoprotein B genes of the equine herpesvirus 1 vaccine strain RacH do not account for its attenuation

      BERLINER UND MUNCHENER TIERARZTLICHE WOCHENSCHRIFT
    19. Klopstock, T; Chahrokh-Zadeh, S; Holinski-Feder, E; Meindl, A; Gasser, T; Pongratz, D; Muller-Felber, W
      Markedly different course of Friedreich's ataxia in sib pairs with similarGAA repeat expansions in the frataxin gene

      ACTA NEUROPATHOLOGICA
    20. COFFEY AJ; BROOKSBANK RA; BRANDAU O; OOHASHI T; HOWELL GR; BYE JM; CAHN AP; DURHAM J; HEATH P; WRAY P; PAVITT R; WILKINSON J; LEVERSHA M; HUCKLE E; SHAWSMITH CJ; DUNHAM A; RHODES S; SCHUSTER V; PORTA G; YIN L; SERAFINI P; SYLLA B; ZOLLO M; FRANCO B; BOLINO A; SERI M; LANYI A; DAVIS JR; WEBSTER D; HARRIS A; LENOIR G; STBASILE GD; JONES A; BEHLORADSKY BH; ACHATZ H; MURKEN J; FASSLER R; SUMEGI J; ROMEO G; VAUDIN M; ROSS MT; MEINDL A; BENTLEY DR
      HOST RESPONSE TO EBV INFECTION IN X-LINKED LYMPHOPROLIFERATIVE DISEASE RESULTS FROM MUTATIONS IN AN SH2-DOMAIN ENCODING GENE

      Nature genetics
    21. STROM TM; NYAKATURA G; APFELSTEDTSYLLA E; HELLEBRAND H; LORENZ B; WEBER BHF; WUTZ K; GUTWILLINGER N; RUTHER K; DRESCHER B; SAUER C; ZRENNER E; MEITINGER T; ROSENTHAL A; MEINDL A
      AN L-TYPE CALCIUM-CHANNEL GENE MUTATED IN INCOMPLETE X-LINKED CONGENITAL STATIONARY NIGHT BLINDNESS

      Nature genetics
    22. BRANDAU O; NYAKATURA G; JEDELE KB; PLATZER M; ACHATZ H; ROSS M; MURKEN J; ROSENTHAL A; MEINDL A
      UHX1 AND PCTK1 - PRECISE CHARACTERIZATION AND LOCALIZATION WITHIN A GENE-RICH REGION IN XP11.23 AND EVALUATION AS CANDIDATE GENES FOR RETINAL DISEASES MAPPED TO XP21.1-P11.2

      European journal of human genetics
    23. LINARI M; MANSON F; WRIGHT A; MEINDL A; MEITINGER T; BECKER J
      THE DELTA-SUBUNIT OF ROD PHOSPHODIESTERASE INTERACTS WITH THE RCC1 HOMOLOGOUS DOMAIN OF RPGR

      European journal of human genetics
    24. BRANDAU O; HOLINSKIFEDER E; DERAKHSHANDEHPEYHKAR P; NESTLEKRAMLING C; UNTCH M; KOPP C; GRILL HJ; MURKEN J; MEINDL A
      TOWARDS A MUTATION PROFILE FOR GERMAN BREAST-CANCER FAMILIES

      European journal of human genetics
    25. MEINDL A; BRANDAU O; NYAKATURA G; ACHATZ H; HELLEBRAND H; RAMSER J; ROSS M; ROSENTHAL A
      SCREENING FOR FURTHER XLRP GENES IN SEQUENCE READY MAPS FROM XP21.1 AND XP11.23

      European journal of human genetics
    26. HARINDRANATH N; MILLS FC; MITCHELL M; MEINDL A; MAX EE
      THE HUMAN ELK-1 GENE FAMILY - THE FUNCTIONAL GENE AND 2 PROCESSED PSEUDOGENES EMBEDDED IN THE IGH LOCUS

      Gene
    27. HOLINSKIFEDER E; WEISS M; BRANDAU O; JEDELE KB; NORE B; BACKESJO CM; VIHINEN M; HUBBARD SR; BELOHRADSKY BH; SMITH CIE; MEINDL A
      MUTATION SCREENING OF THE BTK GENE IN 56 FAMILIES WITH X-LINKED AGAMMAGLOBULINEMIA (XLA) - 47 UNIQUE MUTATIONS WITHOUT CORRELATION TO CLINICAL COURSE

      Pediatrics
    28. STAEHELIN F; MEINDL A; KUHNE T
      A NEW MUTATION IN AN OLD DISEASE OR HOW TO LIVE WITH X-LINKED AGAMMAGLOBULINEMIA

      British Journal of Haematology
    29. MEINDL A
      HUGO MEETING IN TORONTO, MARCH 1997 - CALM BEFORE THE STORM

      Journal of molecular medicine
    30. VIHINEN M; BELOHRADSKY BH; HAIRE RN; HOLINSKIFEDER E; KWAN SP; LAPPALAINEN I; LEHVASLAIHO H; LESTER T; MEINDL A; OCHS H; OLLILA J; VORECHOVSKY I; WEISS M; SMITH CIE
      BTKBASE, MUTATION DATABASE FOR X-LINKED AGAMMAGLOBULINEMIA (VOL 25, PG 166, 1997)

      Nucleic acids research
    31. VIHINEN M; BELOHRADSKY BH; HAIRE RN; HOLINSKIFEDER E; KWAN SP; LAPPALAINEN I; LEHVASLAIHO H; LESTER T; MEINDL A; OCHS HD; OLLILA J; VORECHOVSKY I; WEISS M; SMITH CIE
      BTKBASE, MUTATION DATABASE FOR X-LINKED AGAMMAGLOBULINEMIA (XLA)

      Nucleic acids research
    32. APFELSTEDTSYLLA E; MEITINGER T; MEINDL A; HERMANN K; BRANDAU O; WISSINGER B; ENGEL C; ZRENNER E
      RPGR MISSENSE MUTATION IN CONGENITAL STATIONARY NIGHT BLINDNESS (CSNB)

      Investigative ophthalmology & visual science
    33. HOLINSKIFEDER E; JEDELE KB; HORTNAGEL K; ALBERT A; MEINDL A; TRENKWALDER C
      LARGE INTERGENERATIONAL VARIATION IN AGE-OF-ONSET IN 2 YOUNG-PATIENTSWITH HUNTINGTONS-DISEASE PRESENTING AS DYSKINESIA

      Pediatrics
    34. MEINDL A; DRY K; HERRMANN K; MANSON F; CICCODICOLA A; EDGAR A; CARVALHO MRS; ACHATZ H; HELLEBRAND H; LENNON A; MIGLIACCIO C; PORTER K; ZRENNER E; BIRD A; JAY M; LORENZ B; WITTWER B; DURSO M; MEITINGER T; WRIGHT A
      A GENE (RPGR) WITH HOMOLOGY TO THE RCC1 GUANINE-NUCLEOTIDE EXCHANGE FACTOR IS MUTATED IN X-LINKED RETINITIS-PIGMENTOSA (RP3)

      Nature genetics
    35. SCHINDELHAUER D; HELLEBRAND H; GRIMM L; BADER I; MEITINGER T; WEHNERT M; ROSS M; MEINDL A
      LONG-RANGE MAP OF A 3.5-MB REGION IN XP11.23-22 WITH A SEQUENCE-READYMAP FROM A 1.1-MB GENE-RICH INTERVAL

      PCR methods and applications
    36. SCHINDELHAUER D; WEISS M; HELLEBRAND H; GOLLA A; HERGERSBERG M; SEGER R; BELOHRADSKY BH; MEINDL A
      WISKOTT-ALDRICH SYNDROME - NO STRICT GENOTYPE-PHENOTYPE CORRELATIONS BUT CLUSTERING OF MISSENSE MUTATIONS IN THE AMINO-TERMINAL PART OF THEWASP GENE-PRODUCT

      Human genetics
    37. HOLINSKIFEDER E; GOLLA A; ROST I; SEIDEL H; RITTINGER O; MEINDL A
      REGIONAL LOCALIZATION OF 2 MRX GENES TO XQ28 (MRX28) AND TO XP11.4-XP22.12 (MRX33)

      American journal of medical genetics
    38. ZRENNER E; LORENZ B; WITTWER B; APFELSTEDT E; WISSINGER B; HERGERSBERG M; RUDOLPH G; HERRMANN K; ACHATZ H; MEINDL A; MEITINGER T
      MUTATION ANALYSIS IN PATIENTS WITH X-LINKED RETINITIS-PIGMENTOSA

      Vision research
    39. HOLINSKIFEDER E; CHAHROKHZADEH S; JEDELE KB; MEINDL A; STEINBACH P; WOHRLE D
      FRAXE TESTING

      American journal of human genetics
    40. 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
    41. MEINDL A; LORENZ B; ACHATZ H; HELLEBRAND H; SCHMITZVALCKENBERG P; MEITINGER T
      MISSENSE MUTATIONS IN THE NDP GENE IN PATIENTS WITH A LESS SEVERE COURSE OF NORRIE DISEASE

      Human molecular genetics
    42. SCHIAFFINO MV; BASSI MT; GALLI L; RENIERI A; BRUTTINI M; DENIGRIS F; BERGEN AAB; CHARLES SJ; YATES JRW; MEINDL A; LEWIS RA; KING RA; BALLABIO A
      ANALYSIS OF THE OA1 GENE REVEALS MUTATIONS IN ONLY 1 3 OF PATIENTS WITH X-LINKED OCULAR ALBINISM/

      Human molecular genetics
    43. MEINDL A; CARVALHO MRS; HERRMANN K; LORENZ B; ACHATZ H; LORENZ B; APFELSTEDTSYLLA E; WITTWER B; ROSS M; MEITINGER T
      A GENE (SRPX) ENCODING A SUSHI-REPEAT-CONTAINING PROTEIN IS DELETED IN PATIENTS WITH X-LINKED RETINITIS-PIGMENTOSA

      Human molecular genetics
    44. SCHINDELHAUER D; WEISS M; HELLEBRAND H; HERGERSBERG M; SEGER R; BELOHRADSKY BH; MEINDL A
      GENOTYPE AND PHENOTYPE CORRELATIONS IN WISKOTT-ALDRICH SYNDROME - VARIABLE EXPRESSION OR MUTATION DEPENDENT PHENOTYPES

      American journal of human genetics
    45. MEINDL A; CARVALHO MRS; LORENZ B; ACHATZ H; HERRMANN K; LICHTNER P; ROSS M; MEITINGER T
      CLONING OF CANDIDATE GENES FOR X-LINKED RETINITIS-PIGMENTOSA

      American journal of human genetics
    46. SCHINDELHAUER D; ACHATZ H; STROM TM; ROSS M; CARVALHO MRS; MEINDL A
      ISOLATION AND FINE MAPPING OF (CA)(N) REPEATS FROM THE XP11.23 AND XP11.4 REGION

      Human molecular genetics
    47. KLINK A; MEINDL A; HELLEBRAND H; RAPPOLD GA
      A PATIENT WITH AN INTERSTITIAL DELETION IN XP22.3 LOCATES THE GENE FOR X-LINKED RECESSIVE CHONDRODYSPLASIA PUNCTATA TO WITHIN A ONE MEGABASE INTERVAL

      Human genetics
    48. CARVALHO MRS; MEINDL A; STROM TM; MULLER B; WITTWER B; ROSS M; MEITINGER T
      X-CHROMOSOMAL RETINITIS-PIGMENTOSA - GENETIC-MAPPING AND CLONING APPROACHES

      Cytogenetics and cell genetics
    49. MEINDL A; SCHINDELHAUER D; HELLEBRAND H; HERGERSBERG M; ROSS M; MONACO AP; MEITINGER T
      TOWARDS THE CLONING OF THE WAS-GENE LOCUS - LINKAGE AND PHYSICAL MAPPING

      Cytogenetics and cell genetics
    50. KLINK A; MERTZ A; MEINDL A; FRANCO B; BALLABIO A; HORSTHEMKE B; CLAUSSEN U; LUDECKE HJ; RAPPOLD GA
      LOCALIZATION OF THE GENE FOR X-LINKED RECESSIVE CHONDRODYSPLASIA PUNCTATA WITHIN A 400-KBP INTERVAL

      Cytogenetics and cell genetics
    51. SCHABLE KF; THIEBE R; FLUGEL A; MEINDL A; ZACHAU HG
      THE HUMAN IMMUNOGLOBULIN-CHI LOCUS - PSEUDOGENES, UNIQUE AND REPETITIVE SEQUENCES

      Biological chemistry Hoppe-Seyler
    52. MUSCATELLI F; STROM TM; WALKER AP; ZANARIA E; RECAN D; MEINDL A; BARDONI B; GUIOLI S; ZEHETNER G; RABL W; SCHWARZ HP; KAPLAN JC; CAMERINO G; MEITINGER T; MONACO AP
      MUTATIONS IN THE DAX-1 GENE GIVE RISE TO BOTH X-LINKED ADRENAL HYPOPLASIA CONGENITA AND HYPOGONADOTROPIC HYPOGONADISM

      Nature
    53. MEITINGER T; MEINDL A; BORK P; ROST B; SANDER C; HAASEMANN M; MURKEN J
      MOLECULAR MODELING OF THE NORRIE DISEASE PROTEIN PREDICTS A CYSTINE KNOT GROWTH-FACTOR TERTIARY STRUCTURE

      Nature genetics
    54. MEINDL A; HOSENFELD D; BRUCKL W; SCHUFFENHAUER S; JENDERNY J; BACSKULIN A; OPPERMANN HC; SWENSSON O; BOULOUX P; MEITINGER T
      ANALYSIS OF A TERMINAL XP22.3 DELETION IN A PATIENT WITH 6 MONOGENIC DISORDERS - IMPLICATIONS FOR THE MAPPING OF X-LINKED OCULAR ALBINISM

      Journal of Medical Genetics
    55. HUBER C; SCHABLE KF; HUBER E; KLEIN R; MEINDL A; THIEBE R; LAMM R; ZACHAU HG
      THE V-CHI GENES OF THE L-REGIONS AND THE REPERTOIRE OF V-CHI GENE-SEQUENCES IN THE HUMAN GERM-LINE

      European Journal of Immunology
    56. BOULOUX PMG; KIRK J; MUNROE P; DUKE V; MEINDL A; HILSON A; GRANT D; CARTER N; BETTS D; MEITINGER T; BESSER GM
      DELETION ANALYSIS MAPS OCULAR ALBINISM PROXIMAL TO THE STEROID SULFATASE LOCUS

      Clinical genetics
    57. SCHMUCKER B; COHEN M; SCHUFFENHAUER S; GENZEL O; BACH I; STENGELRUTKOWSKI S; MEINDL A
      BREAKPOINT ANALYSIS, XIST EXPRESSION AND X-INACTIVATION STUDY IN A XQPROXIMAL INTERSTITIAL DUPLICATION INVOLVING THE X-INACTIVATION CENTEROF A FEMALE CARRIER AND HER 2 SONS WITH MALFORMATION SYNDROME

      American journal of human genetics
    58. CARVALHO MRS; MEINDL A; STROM T; MULLER B; WITTWER B; ROSS M; MEITINGER T
      X-CHROMOSOMAL RETINITIS-PIGMENTOSA - GENETIC-MAPPING AND CLONING APPROACHES

      American journal of human genetics
    59. MEITINGER T; MEINDL A; BORK P; SANDER C; MURKEN J
      NORRIE DISEASE - MUTATION ANALYSIS, PROTEIN-STRUCTURE AND EXPRESSION

      American journal of human genetics


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Documento generato il 30/10/20 alle ore 04:01:06