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    1. Roessler, E; Muenke, M
      Midline and laterality defects: left and right meet in the middle

      BIOESSAYS
    2. Bergua, A; Wolter-Roessler, E; Tomandl, B; Holbach, LM
      Orbito-palpebral emphysema due to ethmoidal fracture

      KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE
    3. Bertalanffy, A; Roessler, E; Dietrich, W; Aichholzer, M; Prayer, D; Ertl, A; Kitz, K
      Gamma knife radiosurgery of recurrent central neurocytomas: a preliminary report

      JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
    4. Clark, RM; Marker, PC; Roessler, E; Dutra, A; Schimenti, JC; Muenke, M; Kingsley, DM
      Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1

      GENETICS
    5. Bamford, RN; Roessler, E; Burdine, RD; Saplakoglu, U; dela Cruz, J; Splitt, M; Goodship, JA; Towbin, J; Bowers, P; Ferrero, GB; Marino, B; Schier, AF; Shen, MM; Muenke, M; Casey, B
      Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects (vol 26, pg 365, 2000)

      NATURE GENETICS
    6. Bamford, RN; Roessler, E; Burdine, RD; Saplakoglu, U; dela Cruz, J; Splitt, M; Towbin, J; Bowers, P; Marino, B; Schier, AF; Shen, MM; Muenke, M; Casey, B
      Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects

      NATURE GENETICS
    7. Gripp, KW; Wotton, D; Edwards, MC; Roessler, E; Ades, L; Meinecke, P; Richieri-Costa, A; Zackai, EH; Massague, J; Muenke, M; Elledge, SJ
      Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

      NATURE GENETICS
    8. Roessler, E; Du, Y; Glinka, A; Dutra, A; Niehrs, C; Muenke, M
      The genomic structure, chromosome location, and analysis of the human DKK1head inducer gene as a candidate for holoprosencephaly

      CYTOGENETICS AND CELL GENETICS
    9. Jay, P; Berge-Lefranc, JL; Massacrier, A; Roessler, E; Wallis, D; Muenke, M; Gastaldi, M; Taviaux, S; Cau, P; Berta, P
      ARP3 beta, the gene encoding a new human actin-related protein, is alternatively spliced and predominantly expressed in brain neuronal cells

      EUROPEAN JOURNAL OF BIOCHEMISTRY
    10. Wallis, DE; Roessler, E; Hehr, U; Nanni, L; Wiltshire, T; Richieri-Costa, A; Gillessen-Kaesbach, G; Zackai, EH; Rommens, J; Muenke, M
      Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

      NATURE GENETICS
    11. Nanni, L; Ming, JE; Bocian, M; Steinhaus, K; Bianchi, DW; de Die-Smulders, C; Giannotti, A; Imaizumi, K; Jones, KL; Del Campo, M; Martin, RA; Meinecke, P; Pierpont, MEM; Robin, NH; Young, ID; Roessler, E; Muenke, M
      The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly

      HUMAN MOLECULAR GENETICS
    12. Roessler, E; Mittaz, L; Du, YZ; Scott, HS; Chang, J; Rossier, C; Guipponi, M; Matsuda, SPT; Muenke, M; Antonarakis, SE
      Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)

      HUMAN GENETICS
    13. Cornejo-Roldan, LR; Roessler, E; Muenke, M
      Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome

      HUMAN GENETICS
    14. Roessler, E; Muenke, M
      The molecular genetics of holoprosencephaly: a model of brain development for the next century

      CHILDS NERVOUS SYSTEM
    15. von Gunten, HR; Roessler, E; Lowson, RT; Reid, RD; Short, SA
      Distribution of uranium- and thorium series radionuclides in mineral phases of a weathered lateritic transect of a uranium ore body

      CHEMICAL GEOLOGY
    16. Hoffman, RE; Boutros, NN; Berman, RM; Roessler, E; Belger, A; Krystal, JH; Charney, DS
      Transcranial magnetic stimulation of left temporoparietal cortex in three patients reporting hallucinated "voices"

      BIOLOGICAL PSYCHIATRY
    17. MING JE; ROESSLER E; MUENKE M
      HUMAN DEVELOPMENTAL DISORDERS AND THE SONIC HEDGEHOG PATHWAY

      Molecular medicine today
    18. GAUDENZ K; ROESSLER E; VAINIKKA S; ALITALO K; MUENKE M
      ANALYSIS OF PATIENTS WITH CRANIOSYNOSTOSIS SYNDROMES FOR A PRO246ARG MUTATION IN FGFR4

      MOLECULAR GENETICS AND METABOLISM
    19. BELLONI E; VERDERIO D; ROMMENS JM; HUIZENGA J; SHI XM; SIEGELBARTELT J; ROESSLER E; MUENKE M; FERRARI M; TSUI LC; SCHERER SW
      CHARACTERIZATION OF DEVELOPMENTAL PATHOLOGIES AT 7Q36 - HOLOPROSENCEPHALY (HPE) AND SACRAL AGENESIS (SA)

      European journal of human genetics
    20. MITTAZ L; ROESSLER E; SCOTT HS; ROSSIER C; GUIPPONI M; ANTONARAKIS SE; MUENKE M
      STRUCTURE OF THE HUMAN LANOSTEROL SYNTHASE GENE AND ITS ANALYSIS AS ACANDIDATE FOR HOLOPROSENCEPHALY

      European journal of human genetics
    21. VARGAS FR; ROESSLER E; GAUDENZ K; BELLONI E; WHITEHEAD AS; KIRKE PN; MILLS JL; HOOPER G; STEVENSON RE; CORDEIRO I; CORREIA P; FELIX T; GEREIGE R; CUNNINGHAM ML; CANUN S; ANTONARAKIS SE; STRACHAN T; TSUI LC; SCHERER SW; MUENKE M
      ANALYSIS OF THE HUMAN SONIC-HEDGEHOG CODING AND PROMOTER REGIONS IN SACRAL AGENESIS, TRIPHALANGEAL THUMB, AND MIRROR POLYDACTYLY

      Human genetics
    22. ROESSLER E; MUENKE M
      HOLOPROSENCEPHALY - A PARADIGM FOR THE COMPLEX GENETICS OF BRAIN-DEVELOPMENT

      Journal of inherited metabolic disease
    23. ROESSLER E; HERRERA S; ESPINOZA M; AYALA A; REYNOLDS E; GONZALEZ F; ESPINOZA O; UNDURRAGA A; MUNOZ R; ARCOS O; GALAZ G
      CONVERSION FROM SANDIMMUNE TO NEORAL IN RENAL-TRANSPLANT - FUNCTIONALHISTOPATHOLOGICAL, AND PHARMACOKINETIC CHANGES

      Transplantation proceedings
    24. UNDURRAGA A; ROESSLER E; ARCOS O; GONZALEZ F; ESPINOZA O; HERRERA S; AYALA A; REYNOLDS E; ESPINOZA M; HIDALGO F
      LONG-TERM FOLLOW-UP OF RENAL DONORS

      Transplantation proceedings
    25. GAUDENZ K; ROESSLER E; QUADERI N; FRANCO B; FELDMAN G; GASSER DL; WITTWER B; HORST J; MONTINI E; OPITZ JM; BALLABIO A; MUENKE M
      OPITZ G BBB SYNDROME IN XP22 - MUTATIONS IN THE MID1 GENE-CLUSTER IN THE CARBOXY-TERMINAL DOMAIN (VOL 63, PG 703, 1998)/

      American journal of human genetics
    26. GAUDENZ K; ROESSLER E; QUADERI N; FRANCO B; FELDMAN G; GASSER DL; WITTWER B; MONTINI E; OPITZ JM; BALLABIO A; MUENKE M
      OPITZ G BBB SYNDROME IN XP22 - MUTATIONS IN THE MID1 GENE-CLUSTER IN THE CARBOXY-TERMINAL DOMAIN/

      American journal of human genetics
    27. BUNTKOWSKY G; ROESSLER E; TAUPITZ M; VIETH HM
      ADAMANTANE AS A PROBE FOR STUDIES OF SPIN CLUSTERING WITH MULTIPLE-QUANTUM NMR

      The journal of physical chemistry. A, Molecules, spectroscopy, kinetics, environment, & general theory
    28. ROESSLER E; BELLONI E; GAUDENZ K; VARGAS F; SCHERER SW; TSUI LC; MUENKE M
      MUTATIONS IN THE C-TERMINAL DOMAIN OF SONIC HEDGEHOG CAUSE HOLOPROSENCEPHALY

      Human molecular genetics
    29. ROESSLER E; WARD DE; GAUDENZ K; BELLONI E; SCHERER SW; DONNAI D; SIEGELBARTELT J; TSUI LC; MUENKE M
      CYTOGENETIC REARRANGEMENTS INVOLVING THE LOSS OF THE SONIC-HEDGEHOG GENE AT 7Q36 CAUSE HOLOPROSENCEPHALY

      Human genetics
    30. ROESSLER E; GAUDENZ K; VARGAS F; BELLONI E; SCHERER SW; TSUI LC; RAO L; GOLDEN J; MUENKE M
      MUTATIONAL AND FUNCTIONAL-STUDIES OF THE HUMAN SONIC HEDGEHOG GENE ASA CAUSE FOR HOLOPROSENCEPHALY

      American journal of human genetics
    31. BELLONI E; ROESSLER E; MUENKE M; ROMMENS J; SHI XM; HUIZENGA J; FERRARI M; SIEGELBARTELT J; TSUI LC; SCHERER SW
      CHARACTERIZATION OF DEVELOPMENTAL DISORDERS MAPPING TO 7Q36

      American journal of human genetics
    32. VARGAS F; ROESSLER E; WHITEHEAD S; HOOPER G; STEVENSON RE; CORDEIRO I; CORREIA P; SCHWARTZ I; ANTONARAKIS S; STRACHAN T; GEREIGE R; BELLONI E; SCHERER S; TSUI LC; MUENKE M
      EXCLUSION OF THE HUMAN SONIC HEDGEHOG CODING AND PROMOTER REGIONS AS A CANDIDATE GENE FOR SACRAL AGENESIS, FAMILIAL NEURAL-TUBE DEFECTS, TRIPHALANGEAL THUMB AND MIRROR POLYDACTYLY

      American journal of human genetics
    33. BELLONI E; MUENKE M; ROESSLER E; TRAVERSO G; SIEGELBARTELT J; FRUMKIN A; MITCHELL HF; DONISKELLER H; HELMS C; HING AV; HENG HHQ; KOOP B; MARTINDALE D; ROMMENS JM; TSUI LC; SCHERER SW
      IDENTIFICATION OF SONIC HEDGEHOG AS A CANDIDATE GENE RESPONSIBLE FOR HOLOPROSENCEPHALY

      Nature genetics
    34. ROESSLER E; BELLONI E; GAUDENZ K; JAY P; BERTA P; SCHERER SW; TSUI LC; MUENKE M
      MUTATIONS IN THE HUMAN SONIC HEDGEHOG GENE CAUSE HOLOPROSENCEPHALY

      Nature genetics
    35. RADRIGAN F; MASSARDO L; ROSENBERG H; CASTRO I; ROESSLER E; VALDIVIESO A; ALVARADO A; CERDA C; FLORES JC; ORRIOLS M; VEGA J; DIAZ G; VILLARROEL L; JACOBELLI S
      LUPUS MEMBRANOUS GLOMERULONEPHRITIS - OUTCOME OF WHO TYPES VA AND VB

      Journal of the American Society of Nephrology
    36. KELLEY RI; ROESSLER E; HENNEKAM RCM; FELDMAN GI; KOSAKI K; JONES MC; PALUMBOS JC; MUENKE M
      HOLOPROSENCEPHALY IN RSH SMITH-LEMLI-OPITZ-SYNDROME - DOES ABNORMAL CHOLESTEROL-METABOLISM AFFECT THE FUNCTION OF SONIC-HEDGEHOG/

      American journal of medical genetics
    37. RADRIGAN F; MASSARDO L; ROSENBERG H; CASTRO I; ROESSLER E; VALDIVIESO A; ALVARADO A; CERDA C; FLORES JC; ORRIOLS M; VEGA J; DIAZ G; VILLARROEL L; JACOBELLI S
      LUPUS MEMBRANOUS GLOMERULONEPHRITIS - OUTCOME OF WHO TYPES VA AND VB

      Arthritis and rheumatism
    38. GONZALEZ F; SCH CG; AYALA A; ROESSLER E
      HYPOPHOSPHATEMIC OSTEOMALACIA IN A RENAL- ALLOGRAFT RECIPIENT - A CAUSE OF SEVERE OSTEOPOROSIS

      Revista Medica de Chile
    39. WALDMANN TA; WHITE JD; CARRASQUILLO JA; REYNOLDS JC; PAIK CH; GANSOW OA; BRECHBIEL MW; JAFFE ES; FLEISHER TA; GOLDMAN CK; TOP LE; BAMFORD R; ZAKNOEN S; ROESSLER E; KASTENSPORTES C; ENGLAND R; LITOU H; JOHNSON JA; JACKSONWHITE T; MANNS A; HANCHARD B; JUNGHANS RP; NELSON DL
      RADIOIMMUNOTHERAPY OF INTERLEUKIN-2R-ALPHA-EXPRESSING ADULT T-CELL LEUKEMIA WITH YTTRIUM-90-LABELED ANTI-TAC

      Blood
    40. BELLONI E; SCHERER SW; SIEGELBARTELT J; FRUMKIN A; DONISKELLER H; HELMS C; HING AV; ROESSLER E; BARNOSKI B; MITCHELL H; MUENKE M; TSUI LC
      CHARACTERIZATION OF HOLOPROSENCEPHALY MINIMAL CRITICAL REGION AT 7Q36

      American journal of human genetics
    41. GONZALEZ F; SCH CG; CABRERA ME; AYALA A; ROESSLER E
      PRIMARY CEREBRAL LYMPHOMA IN A KIDNEY-TRA NSPLANT RECIPIENT REPORT OFONE CASE AND REVIEW OF THE LITERATURE

      Revista Medica de Chile
    42. ROESSLER E; GRANT A; JU G; TSUDO M; SUGAMURA K; WALDMANN TA
      COOPERATIVE INTERACTIONS BETWEEN THE INTERLEUKIN-2 RECEPTOR-ALPHA ANDBETA-CHAINS ALTER THE INTERLEUKIN-2-BINDING AFFINITY OF THE RECEPTOR SUBUNITS

      Proceedings of the National Academy of Sciences of the United Statesof America
    43. BURTON JD; BAMFORD RN; PETERS C; GRANT AJ; KURYS G; GOLDMAN CK; BRENNAN J; ROESSLER E; WALDMANN TA
      A LYMPHOKINE, PROVISIONALLY DESIGNATED INTERLEUKIN-T AND PRODUCED BY A HUMAN ADULT T-CELL LEUKEMIA LINE, STIMULATES T-CELL PROLIFERATION AND THE INDUCTION OF LYMPHOKINE-ACTIVATED KILLER-CELLS

      Proceedings of the National Academy of Sciences of the United Statesof America
    44. BAMFORD RN; GRANT AJ; BURTON JD; PETERS C; KURYS G; GOLDMAN CK; BRENNAN J; ROESSLER E; WALDMANN TA
      THE INTERLEUKIN (IL)-2 RECEPTOR-BETA CHAIN IS SHARED BY IL-2 AND A CYTOKINE, PROVISIONALLY DESIGNATED IL-T, THAT STIMULATES T-CELL PROLIFERATION AND THE INDUCTION OF LYMPHOKINE-ACTIVATED KILLER-CELLS

      Proceedings of the National Academy of Sciences of the United Statesof America
    45. BURTON JD; BAMFORD RN; PETERS C; GRANT AJ; KURYS G; GOLDMAN CK; BRENNAN J; ROESSLER E; WALDMANN TA
      A NOVEL CYTOKINE PROVISIONALLY TERMED IL-T THAT STIMULATES T-CELL ANDLAK ACTIVITY REQUIRES IL-2R-BETA FOR ITS ACTION

      Clinical research
    46. WALDMANN TA; GOLDMAN CK; TOP L; GANSOW O; KASTENSPORTES C; ROESSLER E; ZAKNOEN S; WHITE J; HORAK I; CARRASQUILLO JA; REYNOLDS JC; NELSON DL
      THE TREATMENT OF HTLV-I-ASSOCIATED ADULT T-CELL LEUKEMIA (ATL) WITH GENETICALLY ENGINEERED MONOCLONAL-ANTIBODIES ARMED WITH RADIONUCLIDES

      Journal of acquired immune deficiency syndromes
    47. FLORES JC; MEZZANO S; JARA A; ROSENBERG H; LORCA E; ROESSLER E
      IDIOPATHIC MEMBRANOUS NEPHROPATHY IN CHIL E - A COOPERATIVE STUDY OF 82 PATIENTS

      Nefrologia
    48. FLORES JC; MEZZANO S; JARA A; ROSENBERG H; LORCA E; ROESSLER E
      IDIOPATHIC MEMBRANOUS NEPHROPATHY IN CHILE - A COOPERATIVE STUDY OF 82 PATIENTS

      Kidney international
    49. ESCOBAR E; ROESSLER E; ZARATE H; ROMAN O; VALDES G; MEDINA E
      TREATMENT OF MILD HYPERTENSION WITH CAPTOPRIL OR CAPTOPRIL PLUS HYDROCHLOROTHIAZIDE - EFFECTS ON BLOOD-PRESSURE AND QUALITY-OF-LIFE

      Revista Medica de Chile
    50. ALLISON T; BEGLEITER A; MCCARTHY G; ROESSLER E; NOBRE AC; SPENCER DD
      ELECTROPHYSIOLOGICAL STUDIES OF COLOR PROCESSING IN HUMAN VISUAL-CORTEX

      Electroencephalography and clinical neurophysiology
    51. WALDMANN TA; WHITE JD; GOLDMAN CK; TOP L; GRANT A; BAMFORD R; ROESSLER E; HORAK ID; ZAKNOEN S; KASTENSPORTES C; ENGLAND R; HORAK E; MISHRA B; DIPRE M; HALE P; FLEISHER TA; JUNGHANS RP; JAFFE ES; NELSON DL
      THE INTERLEUKIN-2 RECEPTOR - A TARGET FOR MONOCLONAL-ANTIBODY TREATMENT OF HUMAN T-CELL LYMPHOTROPHIC VIRUS-I-INDUCED ADULT T-CELL LEUKEMIA

      Blood


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Documento generato il 16/01/21 alle ore 04:15:10