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La ricerca find articoli where soggetti phrase all words 'XP11' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 41 riferimenti
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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. Nishio, J; Iwasaki, H; Ishiguro, M; Ohjimi, Y; Isayama, T; Naito, M; Kikuchi, M
      Identification of syt-ssx fusion transcripts in both epithelial and spindle cell components of biphasic synovial sarcoma in small tissue samples isolated by membrane-based laser microdissection

      VIRCHOWS ARCHIV-AN INTERNATIONAL JOURNAL OF PATHOLOGY
    3. Boycott, KM; Maybaum, TA; Naylor, MJ; Weleber, RG; Robitaille, J; Miyake, Y; Bergen, AAB; Pierpont, ME; Pearce, WG; Bech-Hansen, NT
      A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants

      HUMAN GENETICS
    4. Boucher, CA; Sargent, CA; Ogata, T; Affara, NA
      Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location

      JOURNAL OF MEDICAL GENETICS
    5. Bech-Hansen, NT; Naylor, MJ; Maybaum, TA; Sparkes, RL; Koop, B; Birch, DG; Bergen, AAB; Prinsen, CFM; Polomeno, RC; Gal, A; Drack, AV; Musarella, MA; Jacobson, SG; Young, RSL; Weleber, RG
      Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, causeX-linked complete congenital stationary night blindness

      NATURE GENETICS
    6. Boycott, KM; Pearce, WG; Bech-Hansen, NT
      Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F

      CANADIAN JOURNAL OF OPHTHALMOLOGY-JOURNAL CANADIEN D OPHTALMOLOGIE
    7. Sanders, ME; Van de Rijn, M; Barr, FG
      Detection of a variant SYT-SSX1 fusion in a case of predominantly epithelioid synovial sarcoma

      MOLECULAR DIAGNOSIS
    8. Ahmad, W; De Fusco, M; ul Haque, MF; Aridon, P; Sarno, T; Sohail, M; ul Haque, S; Ahmad, M; Ballabio, A; Franco, B; Casari, G
      Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity

      EUROPEAN JOURNAL OF HUMAN GENETICS
    9. Rosati, M; Franze, A; Matarazzo, MR; Grimaldi, G
      Coding region intron/exon organization, alternative splicing, and X-chromosome inactivation of the KRAB/FPB-domain-containing human zinc finger gene ZNF41

      CYTOGENETICS AND CELL GENETICS
    10. Perot, C; Bougaran, J; Boccon-Gibod, L; Storkel, S; Leverger, G; van den Akker, J; Taillemite, JL; Couturier, J
      Two new cases of papillary renal cell carcinoma with t(X;1)(p11;q21) in females

      CANCER GENETICS AND CYTOGENETICS
    11. Holinski-Feder, E; Chahrockh-Zadeh, S; Rittinger, O; Jedele, KB; Gasteiger, M; Lenski, C; Murken, J; Golla, A
      Nonsyndromic X-linked mental retardation: Mapping of MRX58 to the pericentromeric region

      AMERICAN JOURNAL OF MEDICAL GENETICS
    12. Siderius, LE; Hamel, BCJ; van Bokhoven, H; de Jager, F; van den Helm, B; Kremer, H; Heineman-de Boer, JA; Ropers, HH; Mariman, ECM
      X-linked mental retardation associated with cleft lip palate maps to Xp11.3-q21.3

      AMERICAN JOURNAL OF MEDICAL GENETICS
    13. Yntema, HG; van den Helm, B; Knoers, NVAM; Smits, APT; van Roosmalen, T; Smeets, DFCM; Mariman, ECM; van der Burgt, I; van Bokhoven, H; Ropers, HH; Kremer, H; Hamel, BCJ
      X-linked mental retardation: Evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region

      AMERICAN JOURNAL OF MEDICAL GENETICS
    14. Renshaw, AA; Granter, SR; Fletcher, JA; Kozakewich, HP; Corless, CL; Perez-Atayde, AR
      Renal cell carcinomas in children and young adults - Increased incidence of papillary architecture and unique subtypes

      AMERICAN JOURNAL OF SURGICAL PATHOLOGY
    15. Lu, YJ; Birdsall, S; Summersgill, B; Smedley, D; Osin, P; Fisher, C; Shipley, J
      Dual colour fluorescence in-situ hybridization to paraffin-embedded samples to deduce the presence of the der(X)t(X;18)(p11.2;q11.2) and involvement of either the SSX1 or SSX2 gene: A diagnostic and prognostic aid for synovial sarcoma

      JOURNAL OF PATHOLOGY
    16. Birdsall, S; Osin, P; Lu, YJ; Fisher, C; Shipley, J
      Synovial sarcoma specific translocation on associated with both epithelialand spindle cell components

      INTERNATIONAL JOURNAL OF CANCER
    17. NOGUERA R; NAVARRO S; CREMADES A; ROSELLOSASTRE E; PELLIN A; PEYDROOLAYA A; LLOMBARTBOSCH A
      TRANSLOCATION (X-18) IN A BIPHASIC SYNOVIAL SARCOMA WITH MORPHOLOGIC FEATURES OF NEURAL DIFFERENTIATION

      Diagnostic molecular pathology
    18. VANKESSEL AG; DEBRUIJN D; HERMSEN L; JANSSEN I; DOSSANTOS NR; WILLEMS R; MAKKUS L; SCHREUDER H; VETH R
      MASKED T(X-18)(P11-Q11) IN A BIPHASIC SYNOVIAL SARCOMA REVEALED BY FISH AND RT-PCR

      Genes, chromosomes & cancer
    19. PASCUALCASTROVIEJO I; ROCHE C; MARTINEZBERMEJO A; ARCAS J; LOPEZMARTIN V; TENDERO A; ESQUIROZ JLH; PASCUALPASCUAL SI
      HYPOMELANOSIS OF ITO - A STUDY OF 76 INFANTILE CASES

      Brain & development
    20. DALCIN P; STAS M; SCIOT R; DEWEVER I; VANDAMME B; VANDENBERGHE H
      TRANSLOCATION (X-1) REVEALS METASTASIS 31 YEARS AFTER RENAL-CELL CARCINOMA

      Cancer genetics and cytogenetics
    21. HAPPLE R
      LETTER TO THE EDITOR - INCONTINENTIA PIGMENTI VERSUS HYPOMELANOSIS OFITO - THE WHYS AND WHEREFORES OF A CONFUSING ISSUE

      American journal of medical genetics
    22. YENAMANDRA A; ZHOU XT; TRINCHITELLA L; SUSIN M; SASTRY S; MEHTA L
      RENAL-CELL CARCINOMA WITH X-1 TRANSLOCATION IN A CHILD WITH KLINEFELTER-SYNDROME

      American journal of medical genetics
    23. KELLEHER CL; BUCKALEW VM; FREDERICKSON ED; RHODES DJ; CONNER DA; SEIDMAN JG; SEIDMAN CE
      CLCN5 MUTATION SER244LEU IS ASSOCIATED WITH X-LINKED RENAL-FAILURE WITHOUT X-LINKED RECESSIVE HYPOPHOSPHATEMIC RICKETS

      Kidney international
    24. SHIPLEY J; FISHER C
      CHROMOSOME TRANSLOCATIONS IN SARCOMAS AND THE ANALYSIS OF PARAFFIN-EMBEDDED MATERIAL

      Journal of pathology
    25. YANG P; HIROSE T; HASEGAWA T; HIZAWA K; SANO T
      DUAL-COLOR FLUORESCENCE IN-SITU HYBRIDIZATION ANALYSIS OF SYNOVIAL SARCOMA

      Journal of pathology
    26. SLOANBENA F; PHILIPPE C; LEHEUP B; WUILQUE F; LEVY ER; CHERY M; JONVEAUX P; MONACO AP
      CHARACTERIZATION OF AN INVERTED X-CHROMOSOME (P11.2Q21.3) ASSOCIATED WITH MENTAL-RETARDATION USING FISH

      Journal of Medical Genetics
    27. DEQAQI SC; NGUESSAN M; FORNER J; SBITI A; BELDJORD C; CHELLY J; SEFIANI A; DESPORTES V
      A GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION (MRX55) IS LOCATEDIN XP11

      Annales de genetique
    28. ZAJAC V; KIRCHHOFF T; LEVY ER; HORSLEY SW; MILLER A; STEICHENGERSDORF E; MONACO AP
      CHARACTERIZATION OF X-17(Q12-P13) TRANSLOCATION BREAKPOINTS IN A FEMALE-PATIENT WITH HYPOMELANOSIS OF ITO AND CHOROID-PLEXUS PAPILLOMA

      European journal of human genetics
    29. LLOYD SE; GUNTHER W; PEARCE SHS; THOMSON A; BIANCHI ML; BOSIO M; CRAIG IW; FISHER SE; SCHEINMAN SJ; WRONG O; JENTSCH TJ; THAKKER RV
      CHARACTERIZATION OF RENAL CHLORIDE CHANNEL, CLCN5, MUTATIONS IN HYPERCALCIURIC NEPHROLITHIASIS (KIDNEY-STONES) DISORDERS

      Human molecular genetics
    30. AKUTA N; LLOYD SE; IGARASHI T; SHIRAGA H; MATSUYAMA T; YOKORO S; COX JPD; THAKKER RV
      MUTATIONS OF CLCN5 IN JAPANESE CHILDREN WITH IDIOPATHIC LOW-MOLECULAR-WEIGHT PROTEINURIA, HYPERCALCIURIA AND NEPHROCALCINOSIS

      Kidney international
    31. LLOYD SE; PEARCE SHS; GUNTHER W; KAWAGUCHI H; IGARASHI T; JENTSCH TJ; THAKKER RV
      IDIOPATHIC LOW-MOLECULAR-WEIGHT PROTEINURIA ASSOCIATED WITH HYPERCALCIURIC NEPHROCALCINOSIS IN JAPANESE CHILDREN IS DUE TO MUTATIONS OF THERENAL CHLORIDE CHANNEL (CLCN5)

      The Journal of clinical investigation
    32. DEBRUIJN DRH; BAATS E; ZECHNER U; DELEEUW B; BALEMANS M; WEGHUIS DO; HIRNINGFOLZ U; VANKESSEL AG
      ISOLATION AND CHARACTERIZATION OF THE MOUSE HOMOLOG OF SYT, A GENE IMPLICATED IN THE DEVELOPMENT OF HUMAN SYNOVIAL SARCOMAS

      Oncogene
    33. GORSKI JL; BIALECKI MD; MCDONALD MT; MASSA HF; TRASK BJ; BURRIGHT EN
      COSMIDS MAP 2 INCONTINENTIA PIGMENTI TYPE-1 (IP1) TRANSLOCATION BREAKPOINTS TO A 180-KB REGION WITHIN A 1.2-MB YAC CONTIG

      Genomics
    34. WETERMAN MAJ; WILBRINK M; JANSSEN I; JANSSEN HAP; VANDENBERG E; FISHER SE; CRAIG I; VANKESSEL AG
      MOLECULAR-CLONING OF THE PAPILLARY RENAL-CELL CARCINOMA-ASSOCIATED TRANSLOCATION (X-1)(P11-Q21) BREAKPOINT

      Cytogenetics and cell genetics
    35. DELEEUW B; BALEMANS M; VANKESSEL AG
      A NOVEL KRUPPEL-ASSOCIATED BOX-CONTAINING THE SSX GENE (SSX3) ON THE HUMAN X-CHROMOSOME IS NOT IMPLICATED IN T(X-18)-POSITIVE SYNOVIAL SARCOMAS

      Cytogenetics and cell genetics
    36. 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
    37. WETERMAN MAJ; WILBRINK M; VANKESSEL AG
      FUSION OF THE TRANSCRIPTION FACTOR TFE3 GENE TO A NOVEL GENE, PRCC, IN T(X-1)(P11-Q21)-POSITIVE PAPILLARY RENAL-CELL CARCINOMAS

      Proceedings of the National Academy of Sciences of the United Statesof America
    38. HATCHWELL E
      HYPOMELANOSIS OF ITO AND X-AUTOSOME TRANSLOCATIONS - A UNIFYING HYPOTHESIS

      Journal of Medical Genetics
    39. SYBERT VP
      INCONTINENTIA PIGMENTI NOMENCLATURE

      American journal of human genetics
    40. EMERY MM; SIEGFRIED EC; STONE MS; STONE EM; PATIL SR
      INCONTINENTIA PIGMENTI - TRANSMISSION FROM FATHER TO DAUGHTER

      Journal of the American Academy of Dermatology
    41. KOIFFMANN CP; DESOUZA DH; DIAMENT A; VENTURA HB; ALVES RS; KIHARA S; WAJNTAL A
      INCONTINENTIA PIGMENTI ACHROMIANS (HYPOMELANOSIS OF ITO, MIM 146150) - FURTHER EVIDENCE OF LOCALIZATION AT XP11

      American journal of medical genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/01/21 alle ore 08:19:20