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    1. Trockenbacher, A; Suckow, V; Foerster, J; Winter, J; Krauss, S; Ropers, HH; Schneider, R; Schweiger, S
      MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation

      NATURE GENETICS
    2. Couvert, P; Bienvenu, T; Aquaviva, C; Poirier, K; Moraine, C; Gendrot, C; Verloes, A; Andres, C; Le Fevre, AC; Souville, I; Steffann, J; des Portes, V; Ropers, HH; Yntema, HG; Fryns, JP; Briault, S; Chelly, J; Cherif, B
      MECP2 is highly mutated in X-linked mental retardation

      HUMAN MOLECULAR GENETICS
    3. Nothwang, HG; Kim, HG; Aoki, J; Geisterfer, M; Kubart, S; Wegner, RD; van Moers, A; Ashworth, LK; Haaf, T; Bell, J; Arai, H; Tommerup, N; Ropers, HH; Wirth, J
      Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain

      HUMAN MOLECULAR GENETICS
    4. 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
    5. Sudbrak, R; Wieczorek, G; Nuber, UA; Mann, W; Kirchner, R; Erdogan, F; Brown, CJ; Wohrle, D; Sterk, P; Kalscheuer, VM; Berger, W; Lehrach, H; Ropers, HH
      X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications

      HUMAN MOLECULAR GENETICS
    6. Brunner, B; Hornung, U; Shan, Z; Nanda, I; Kondo, M; Zend-Ajusch, E; Haaf, T; Ropers, HH; Shima, A; Schmid, M; Kalscheuer, VM; Schartl, M
      Genomic organization and expression of the doublesex-related gene cluster in vertebrates and detection of putative regulatory regions for DMRT1

      GENOMICS
    7. Kirschner, R; Erturk, D; Zeitz, C; Sahin, S; Ramser, J; Cremers, FPM; Ropers, HH; Berger, W
      DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements

      HUMAN GENETICS
    8. Hemberger, M; Cross, JC; Ropers, HH; Lehracht, H; Fundele, R; Himmelbauer, H
      UniGene cDNA array-based monitoring of transcriptome changes during placental development mouse

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    9. Borck, G; Wirth, J; Hardt, T; Tonnies, H; Brondum-Nielsen, K; Bugge, M; Tommerup, N; Nothwang, HG; Ropers, HH; Haaf, T
      Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome

      JOURNAL OF MEDICAL GENETICS
    10. Mergenthaler, S; Hitchins, MP; Blagitko-Dorfs, N; Monk, D; Wollmann, HA; Ranke, MB; Ropers, HH; Apostolidou, S; Stanier, P; Preece, MA; Eggermann, T; Kalscheuer, VM; Moore, GE
      Conflicting reports of imprinting status of human GRB10 in developing brain: How reliable are somatic cell hybrids for predicting allelic origin of expression?

      AMERICAN JOURNAL OF HUMAN GENETICS
    11. Kutsche, K; Yntema, H; Brandt, A; Jantke, I; Nothwang, HG; Orth, U; Boavida, MG; David, D; Chelly, J; Fryns, JP; Moraine, C; Ropers, HH; Hamel, BCJ; van Bokhoven, H; Gal, A
      Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

      NATURE GENETICS
    12. 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
    13. Brunner, B; Grutzner, F; Yaspo, ML; Ropers, HH; Haaf, T; Kalscheuer, VM
      Molecular cloning and characterization of the Fugu rubripes MEST/COPG2 imprinting cluster and chromosomal localization in Fugu and Tetraodon nigroviridis

      CHROMOSOME RESEARCH
    14. Roepman, R; Bernoud-Hubac, N; Schick, DE; Maugeri, A; Berger, W; Ropers, HH; Cremers, FPM; Ferreira, PA
      The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors

      HUMAN MOLECULAR GENETICS
    15. Blagitko, N; Mergenthaler, S; Schulz, U; Wollmann, HA; Craigen, W; Eggermann, T; Ropers, HH; Kalscheuer, VM
      Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion

      HUMAN MOLECULAR GENETICS
    16. Scheer, MP; van der Maarel, S; Kubart, S; Schulz, A; Wirth, J; Schweiger, S; Ropers, HH; Nothwang, HG
      DXS6673E encodes a predominantly nuclear protein, and its mouse ortholog DXHXS6673E is alternatively spliced in a developmental- and tissue-specific manner

      GENOMICS
    17. Nothwang, HG; Schroer, A; van der Maarel, S; Kubart, S; Schneider, S; Riesselmann, L; Menzel, C; Hinzmann, B; Vogt, D; Rosenthal, A; Fryns, JP; Tommerup, N; Haaf, T; Ropers, HH; Wirth, J
      Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X;autosome translocations

      CYTOGENETICS AND CELL GENETICS
    18. Schroer, A; Scheer, MP; Zacharias, S; Schneider, S; Ropers, HH; Nothwang, HG; Chelly, J; Hamel, B; Fryns, JP; Shaw, P; Moraine, C
      Cosegregation of T108A Elk-1 with mental retardation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    19. Fryns, JP; Borghgraef, M; Brown, TW; Chelly, J; Fisch, GS; Hamel, B; Hanauer, A; Lacombe, D; Luo, L; MacPherson, JN; Mandel, JL; Moraine, C; Mulley, J; Nelson, D; Oostra, B; Partington, M; Ramakers, GJA; Ropers, HH; Rousseau, F; Schwartz, C; Steinbach, P; Stoll, C; Tranebjaerg, L; Turner, G; Van Bokhoven, H; Vianna-Morgante, A; Villard, L; Warren, ST
      9th international workshop on fragile X syndrome and X-linked mental retardation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    20. Bienvenu, T; des Portes, V; McDonell, N; Carrie, A; Zemni, R; Couvert, P; Ropers, HH; Moraine, C; van Bokhoven, H; Fryns, JP; Allen, K; Walsh, CA; Boue, J; Kahn, A; Chelly, J; Beldjord, C
      Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    21. Cremers, FPM; Cremers, CWRJ; Ropers, HH
      The ins and outs of X-linked deafness type 3

      GENETICS IN OTORHINOLARYNGOLOGY
    22. Thiesen, S; Kubart, S; Ropers, HH; Nothwang, HG
      Isolation of two novel human RhoGEFs, ARHGEF3 and ARHGEF4, in 3p13-21 and 2q22

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    23. Brunner, B; Todt, T; Lenzner, S; Stout, K; Schulz, U; Ropers, HH; Kalscheuer, VM
      Genomic structure and comparative analysis of nine Fugu genes: Conservation of synteny with human chromosome Xp22.2-p22.1

      GENOME RESEARCH
    24. Carrie, A; Jun, L; Bienvenu, T; Vinet, MC; McDonell, N; Couvert, P; Zemni, R; Cardona, A; Van Buggenhout, G; Frints, S; Hamel, B; Moraine, C; Ropers, HH; Strom, T; Howell, GR; Whittaker, A; Ross, MT; Kahn, A; Fryns, JP; Beldjord, C; Marynen, P; Chelly, J
      A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

      NATURE GENETICS
    25. Grutzner, F; Lutjens, G; Rovira, C; Barnes, DW; Ropers, HH; Haaf, T
      Classical and molecular cytogenetics of the pufferfish tetraodon nigroviridis

      CHROMOSOME RESEARCH
    26. Stout, K; van der Maarel, S; Frants, RR; Padberg, GW; Ropers, HH; Haaf, T
      Somatic pairing between subtelomeric chromosome regions: implications for human genetic disease?

      CHROMOSOME RESEARCH
    27. Kirschner, R; Rosenberg, T; Schultz-Heienbrok, R; Lenzner, S; Feil, S; Roepman, R; Cremers, FPM; Ropers, HH; Berger, W
      RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa

      HUMAN MOLECULAR GENETICS
    28. Blagitko, N; Schulz, U; Schinzel, AA; Ropers, HH; Kalscheuer, VM
      gamma 2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome

      HUMAN MOLECULAR GENETICS
    29. Yntema, HG; van den Helm, B; Kissing, J; van Duijnhoven, G; Poppelaars, F; Chelly, J; Moraine, C; Fryns, JP; Hamel, BCJ; Heilbronner, H; Pander, HJ; Brunner, HG; Ropers, HH; Cremers, FPM; van Bokhoven, H
      A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation

      GENOMICS
    30. Nemeth, AH; Nolte, D; Dunne, E; Niemann, S; Kostrzewa, M; Peters, U; Fraser, E; Bochukova, E; Butler, R; Brown, J; Cox, RD; Levy, ER; Ropers, HH; Monaco, AP; Muller, U
      Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3)

      GENOMICS
    31. Schroer, A; Schneider, S; Ropers, HH; Nothwang, HG
      Cloning and characterization of UXT, a novel gene in human Xp11, which is widely and abundantly expressed in tumor tissue

      GENOMICS
    32. Grutzner, F; Himmelbauer, H; Paulsen, N; Ropers, HH; Haaf, T
      Comparative mapping of mouse and rat chromosomes by fluorescence in situ hybridization

      GENOMICS
    33. Hardt, T; Himmelbauer, H; Mann, W; Ropers, HH; Haaf, T
      Towards identification of individual homologous chromosomes: comparative genomic hybridization and spectral karyotyping discriminate between paternaland maternal euchromatin in Mus musculus x M-spretus interspecific hybrids

      CYTOGENETICS AND CELL GENETICS
    34. Van Buggenhout, GJCM; Trommelen, JCM; Schoenmaker, A; De Bal, C; Verbeek, JJMC; Smeets, DFCM; Ropers, HH; Devriendt, K; Hamel, BCJ
      Down syndrome in a population of elderly mentally retarded patients: Genetic-diagnostic survey and implications for medical care

      AMERICAN JOURNAL OF MEDICAL GENETICS
    35. 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
    36. des Portes, V; Beldjord, C; Chelly, J; Hamel, B; Kremer, H; Smits, A; van Bokhoven, H; Ropers, HH; Claes, S; Fryns, JP; Ronce, N; Gendrot, C; Toutain, A; Raynaud, M; Moraine, C
      X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: The European XLMR Consortium

      AMERICAN JOURNAL OF MEDICAL GENETICS
    37. Hamel, BCJ; Smits, APT; van den Helm, B; Smeets, DFCM; Knoers, NVAM; van Roosmalen, T; Thoonen, GHJ; Assman-Hulsmans, CFCH; Ropers, HH; Mariman, ECM; Kremer, H
      Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis

      AMERICAN JOURNAL OF MEDICAL GENETICS
    38. 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
    39. Schweiger, S; Foerster, J; Lehman, T; Suckow, V; Muller, YA; Walter, G; Davies, T; Porter, H; van Bokhoven, H; Lunt, PW; Traub, P; Ropers, HH
      The Opitz syndrome gene product, MID1, associates with microtubules

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    40. Hamel, BCJ; Wesseling, P; Renier, WO; van den Helm, B; Ropers, HH; Kremer, H; Mariman, ECM
      A new X linked neurodegenerative syndrome with metal retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region (vol 36, pg 140, 1999)

      JOURNAL OF MEDICAL GENETICS
    41. Wirth, J; Nothwang, HG; van der Maarel, S; Menzel, C; Borck, G; Lopez-Pajares, I; Brondum-Nielsen, K; Tommerup, N; Bugge, M; Ropers, HH; Haaf, T
      Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

      JOURNAL OF MEDICAL GENETICS
    42. Hamel, BCJ; Wesseling, P; Renier, WO; van den Helm, B; Ropers, HH; Kremer, H; Mariman, ECM
      A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region

      JOURNAL OF MEDICAL GENETICS
    43. van Bokhoven, H; Jung, M; Smits, APT; van Beersum, S; Ruschendorf, F; van Steensel, M; Veenstra, M; Tuerlings, JHAM; Mariman, ECM; Brunner, HG; Wienker, TF; Reis, A; Ropers, HH; Hamel, BCJ
      Limb mammary syndrome: A new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27

      AMERICAN JOURNAL OF HUMAN GENETICS
    44. SCHWAHN U; LENZNER S; DONG J; FEIL S; HINZMANN B; VANDUIJNHOVEN G; KIRSCHNER R; HEMBERGER M; BERGEN AAB; ROSENBERG T; PINCKERS AJLG; FUNDELE R; ROSENTHAL A; CREMERS FPM; ROPERS HH; BERGER W
      POSITIONAL CLONING OF THE GENE FOR X-LINKED RETINITIS-PIGMENTOSA-2

      Nature genetics
    45. RIESEWIJK AM; BLAGITKO N; SCHINZEL AA; HU LD; SCHULZ U; HAMEL BCJ; ROPERS HH; KALSCHEUER VM
      EVIDENCE AGAINST A MAJOR ROLE OF PEG1 MEST IN SILVER-RUSSELL-SYNDROME/

      European journal of human genetics
    46. SCHROER A; NOTHWANG HG; VONDERMAAREL SM; WIRTH J; FRYNS JP; SCHWEIGER S; BERGER W; HAAF T; TOMMERUP N; ROPERS HH
      CHARACTERIZATION OF X-CHROMOSOMAL BREAKPOINTS ASSOCIATED WITH NON-SYNDROMIC MENTAL-RETARDATION (MR) AND ISOLATION OF CANDIDATE GENES

      European journal of human genetics
    47. KREMER H; CREMERS CWRJ; VANDENHELM B; MARRES HAM; MEERMAN GJT; BLEIJS DA; ROPERS HH; MARIMAN ECM
      NON-ALLELIC GENETIC-HETEROGENEITY IN A FAMILY WITH NONSYNDROMAL DEAFNESS

      European journal of human genetics
    48. BRUNNER B; TODT T; ROPERS HH; KALSCHEUER V
      EVOLUTIONARY CONSERVATION OF HUMAN XP22.1-P22.2 AND THE CORRESPONDINGREGION OF THE PUFFERFISH

      European journal of human genetics
    49. BIENVENU T; DESPORTES V; SAINTMARTIN A; MCDONELL N; BILLUART P; CARRIE A; VINET MC; COUVERT P; TONIOLO D; ROPERS HH; MORAINE C; VANBOKHOVEN H; FRYNS JP; KAHN A; BELDJORD C; CHELLY J
      NONSPECIFIC X-LINKED SEMIDOMINANT MENTAL-RETARDATION BY MUTATIONS IN A RAB GDP-DISSOCIATION INHIBITOR

      Human molecular genetics (Print)
    50. DENDUNNEN JT; KRAAYENBRINK T; VANSCHOONEVELD M; VANDEVOSSE E; DEJONG PTVM; TENBRINK JB; SCHUURMAN E; TIJMES N; VANOMMEN GJB; BERGEN AAB; ANDOLFI G; MONTINI E; LI Y; OUDET C; BOLZ H; KAPLAN J; ORTH U; GAL A; HANAUER A; BARDELLI AM; AYUSO C; DIAZ FJ; BITOUN P; VENTRUTO V; BALLABIO A; FRANCO B; HIRIYANNA KT; BINGHAM EL; MCHENRY C; PAWAR H; COATS C; DARGA T; RICHARDS JE; SIEVING PA; HUOPANIEMI L; RANTALA A; ROSENBERG T; DAHL N; WRIGHT A; DELACHAPELLE A; ALITALO T; LENZNER S; BRUNNER B; FEIL S; NIESLER B; SCHULZ U; PINCKERS A; BLANKENNAGEL A; RUETHER K; KELLNER U; RAPPOLD G; ROPERS HH; KALSCHEUER V; BERGER W; TRUMP D; WALPOLE SM; NICOLAOU A; GAYTHOR SA; PIMENIDES D; GEORGE NDL; MOORE UT; YATES JRW
      FUNCTIONAL IMPLICATIONS OF THE SPECTRUM OF MUTATIONS FOUND IN 234 CASES WITH X-LINKED JUVENILE RETINOSCHISIS (XLRS)

      Human molecular genetics (Print)
    51. Monaco, AP; Ropers, HH; Gilgenkrantz, SG; Zajac, V
      Construction of a physical, genetic and transcript map of human xq21.1-q21.3

      HUMAN GENOME ANALYSIS
    52. YNTEMA HG; HAMEL BCJ; SMITS APT; VANROOSMALEN T; VANDENHELM B; KREMER H; ROPERS HH; SMEETS DFCM; VANBOKHOVEN H
      LOCALIZATION OF A GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION (MRX46) TO XQ25-Q26

      Journal of Medical Genetics
    53. RIESEWIJK AM; XU YQ; SCHEPENS MT; MARIMAN EM; POLYCHRONAKOS C; ROPERS HH; KALSCHEUER VM
      ABSENCE OF AN OBVIOUS MOLECULAR IMPRINTING MECHANISM IN A HUMAN FETUSWITH MONOALLELIC IGF2R EXPRESSION

      Biochemical and biophysical research communications
    54. QUADERI NA; SCHWEIGER S; GAUDENZ K; FRANCO B; RUGARLI EI; BERGER W; FELDMAN GJ; VOLTA M; ANDOLFI G; GILGENKRANTZ S; MARION RW; HENNEKAM RCM; OPITZ JM; MUENKE M; ROPERS HH; BALLABIO A
      OPITZ G BBB SYNDROME, A DEFECT OF MIDLINE DEVELOPMENT, IS DUE TO MUTATIONS IN A NEW RING FINGER GENE ON XP22/

      Nature genetics
    55. VANDENHURK JAJM; SCHWARTZ M; VANBOKHOVEN H; VANDEPOL TJR; BOGERD L; PINCKERS AJLG; BLEEKERWAGEMAKERS EM; PAWLOWITZKI IH; RUTHER K; ROPERS HH; CREMERS FPM
      MOLECULAR-BASIS OF CHOROIDEREMIA (CHM) - MUTATIONS INVOLVING THE RAB ESCORT PROTEIN-1 (REP-1) GENE

      Human mutation
    56. DEKOK YJM; CREMERS CWRJ; ROPERS HH; CREMERS FPM
      THE MOLECULAR-BASIS OF X-LINKED DEAFNESS TYPE-3 (DFN3) IN 2 SPORADIC CASES - IDENTIFICATION OF A SOMATIC MOSAICISM FOR A POU3F4 MISSENSE MUTATION

      Human mutation
    57. VANDENHURK JAJM; HENDRIKS W; VANDEPOL DJR; OERLEMANS F; JAISSLE G; RUTHER K; KOHLER K; HARTMANN J; ZRENNER E; VANBOKHOVEN H; WIERINGA B; ROPERS HH; CREMERS FPM
      MOUSE CHOROIDEREMIA GENE MUTATION CAUSES PHOTORECEPTOR CELL DEGENERATION AND IS NOT TRANSMITTED THROUGH THE FEMALE GERMLINE

      Human molecular genetics
    58. CREMERS FPM; VANDENHURK JAJM; HENDRIKS W; VANDEPOL TJR; OERLEMANS F; JAISSLE G; KOHLER K; RUTHER K; HARTMANN J; ZRENNER E; WIERINGA B; ROPERS HH
      THE CHOROIDEREMIA MUTATION RESULTS IN PHOTORECEPTOR CELL DEGENERATIONIN CHIMERIC MICE BUT IS EMBRYONIC LETHAL IN HEMIZYGOTIC MICE

      The FASEB journal
    59. RIESEWIJK AM; HU L; SCHULZ U; TARIVERDIAN G; HOGLUND P; KERE J; ROPERS HH; KALSCHEUER VM
      MONOALLELIC EXPRESSION OF HUMAN PEG1 MEST IS PARALLELED BY PARENT-SPECIFIC METHYLATION IN FETUSES/

      Genomics
    60. NOTHWANG HG; WIRTH J; BRANDL B; HAAF T; NIELSEN KB; TOMMERUP N; ROPERS HH
      IDENTIFICATION OF POSITIONAL CANDIDATES FOR NEUROLOGICAL DISORDERS ONCHROMOSOME 13Q14-]Q22

      Cytogenetics and cell genetics
    61. KINGSLEY K; WIRTH J; VANDERMAAREL S; FREIER S; ROPERS HH; HAAF T
      COMPLEX FISH PROBES FOR THE SUBTELOMERIC REGIONS OF ALL HUMAN-CHROMOSOMES - COMPARATIVE HYBRIDIZATION OF CEPH YACS TO CHROMOSOMES OF THE OLD-WORLD MONKEY PRESBYTIS-CRISTATA AND GREAT APES

      Cytogenetics and cell genetics
    62. TOLIAT MR; BERGER W; ROPERS HH; NEUHAUS P; WIEDENMANN B
      MUTATIONS IN THE MEN-I GENE IN SPORADIC NEUROENDOCRINE TUMORS OF GASTROENTEROPANCREATIC SYSTEM

      Lancet
    63. ROPERS HH
      MOLECULAR ELUCIDATION OF HEREDITARY EYE DISEASES - PIVOTAL ROLE OF THE CLINICIAN

      Ophthalmic research
    64. HAAF T; KINGSLEY K; WIRTH J; NOTHWANG HG; ROPERS HH
      RAPID EVOLUTION OF SUBTELOMERIC CHROMOSOME REGIONS

      American journal of human genetics
    65. WIRTH J; NOTHWANG HG; MENZEL C; LOPEZPAJARES I; BRONDUMNIELSEN K; TOMMERUP N; ROPERS HH; HAAF T
      CYTOGENETICALLY AND GENETICALLY ANCHORED FISH PROBES FOR THE SYSTEMATIC IDENTIFICATION OF DISEASE-ASSOCIATED BALANCED CHROMOSOME REARRANGEMENTS (DBCRS)

      American journal of human genetics
    66. BERGER W; SCHNITZER J; RUETHER K; VANDERPOL D; TORNOW P; ZRENNER E; ROPERS HH
      MORPHOLOGICAL AND PHYSIOLOGICAL CHARACTERIZATION OF A MOUSE MUTANT WITH TARGETED DISRUPTION OF THE NORRIE-DISEASE (ND) GENE

      American journal of human genetics
    67. VANBOKHOVEN H; YNTEMA H; KISSING J; SCHEPENS M; SMITS A; ROPERS HH
      PHYSICAL DEMARCATION OF THE LOCUS FOR NONSPECIFIC MENTAL-RETARDATION IN XQ21 AND IDENTIFICATION OF CANDIDATE GENES

      American journal of human genetics
    68. VANBOKHOVEN H; VANDENHURK JAJM; BOGERD L; VANDEPOL DJR; ROPERS HH; CREMERS FPM
      A HIGHLY POLYMORPHIC MICROSATELLITE MARKER LOCATED WITHIN THE CHOROIDEREMIA GENE

      Ophthalmic genetics
    69. NELEN MR; PADBERG GW; PEETERS EAJ; LIN AY; VANDENHELM B; FRANTS RR; COULON V; GOLDSTEIN AM; VANREEN MMM; EASTON DF; EELES RA; HODGSON S; MULVIHILL JJ; MURDAY VA; TUCKER MA; MARIMAN ECM; STARINK TM; PONDER BAJ; ROPERS HH; KREMER H; LONGY M; ENG C
      LOCALIZATION OF THE GENE FOR COWDEN DISEASE TO CHROMOSOME 10Q22-23

      Nature genetics
    70. DEKOK YJM; VOSSENAAR ER; CREMERS CWRJ; DAHL N; LAPORTE J; HU LJ; LACOMBE D; FISCHELGHODSIAN N; FRIEDMAN RA; PARNES LS; THORPE P; BITNERGLINDZICZ M; PANDER HJ; HEILBRONNER H; GRAVELINE J; DENDUNNEN JT; BRUNNER HG; ROPERS HH; CREMERS FPM
      IDENTIFICATION OF A HOT-SPOT FOR MICRODELETIONS IN PATIENTS WITH X-LINKED DEAFNESS TYPE-3 (DFN3) 900 KB PROXIMAL TO THE DFN3 GENE POU3F4

      Human molecular genetics
    71. VANDERMAAREL SM; SCHOLTEN IHJM; HUBER I; PHILIPPE C; SUIJKERBUIJK RF; GILGENKRANTZ S; KERE J; CREMERS FPM; ROPERS HH
      CLONING AND CHARACTERIZATION OF DXS6673E, A CANDIDATE GENE FOR X-LINKED MENTAL-RETARDATION IN XQ13.1

      Human molecular genetics
    72. ROEPMAN R; VANDUIJNHOVEN G; ROSENBERG T; PINCKERS AJLG; BLEEKERWAGEMAKERS LM; BERGEN AAB; POST J; BECK A; REINHARDT R; ROPERS HH; CREMERS FPM; BERGER W
      POSITIONAL CLONING OF THE GENE FOR X-LINKED RETINITIS-PIGMENTOSA-3 - HOMOLOGY WITH THE GUANINE-NUCLEOTIDE-EXCHANGE FACTOR RCC1

      Human molecular genetics
    73. BERGER W; VANDEPOL D; BACHNER D; OERLEMANS F; WINKENS H; HAMEISTER H; WIERINGA B; HENDRIKS W; ROPERS HH
      AN ANIMAL-MODEL FOR NORRIE DISEASE (ND) - GENE TARGETING OF THE MOUSEND GENE

      Human molecular genetics
    74. RIESEWIJK AM; SCHEPENS MT; MARIMAN EM; ROPERS HH; KALSCHEUER VM
      THE MAS PROTOONCOGENE IS NOT IMPRINTED IN HUMANS

      Genomics
    75. RIESEWIJK AM; SCHEPENS MT; WELCH TR; VANDENBERGLOONEN EM; MARIMAN EM; ROPERS HH; KALSCHEUER VM
      MATERNAL-SPECIFIC METHYLATION OF THE HUMAN IGF2R GENE IS NOT ACCOMPANIED BY ALLELE-SPECIFIC TRANSCRIPTION

      Genomics
    76. KREMER H; HAMEL BCJ; VANDENHELM B; ARTS WFM; DEWIJS IJ; SISTERMANS EA; ROPERS HH; MARIMAN ECM
      LOCALIZATION OF THE GENE (OR GENES) FOR A SYNDROME WITH X-LINKED MENTAL-RETARDATION, ATAXIA, WEAKNESS, HEARING IMPAIRMENT, LOSS OF VISION AND A FATAL COURSE IN EARLY-CHILDHOOD

      Human genetics
    77. HAMEL BCJ; SMEETS DFCM; SMITS APT; VANDENHELM B; KREMER H; KNOERS N; ROPERS HH; MARIMAN EC
      X-LINKED MENTAL-RETARDATION - RESULTS OF A COMBINED CLINICAL, CYTOGENETIC AND MOLECULAR APPROACH

      American journal of medical genetics
    78. VANDERMAAREL S; SCHOLTEN I; WEGHUIS DO; HUBER I; ROHME D; GILGENKRANTZ S; KERE J; FRYNS JP; ABELIOVICH D; SMITS A; CREMERS F; ROPERS HH
      CLONING OF CANDIDATE GENES FOR X-LINKED MENTAL-RETARDATION BY USE OF CHROMOSOME-ABERRATIONS

      American journal of medical genetics
    79. HAMEL BCJ; SMITS APT; OTTEN BJ; VANDENHELM B; ROPERS HH; MARIMAN ECM
      FAMILIAL X-LINKED MENTAL-RETARDATION AND ISOLATED GROWTH-HORMONE DEFICIENCY - CLINICAL AND MOLECULAR FINDINGS

      American journal of medical genetics
    80. HAMEL BCJ; KREMER H; WESBYVANSWAAY E; VANDENHELM B; SMITS APT; OOSTRA BA; ROPERS HH; MARIMAN ECM
      A GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION (MRX41) IS LOCATEDIN THE DISTAL SEGMENT OF XQ28

      American journal of medical genetics
    81. KREMER H; KRAAIJ R; TOLEDO SPA; POST M; FRIDMAN JB; HAYASHIDA CY; VANREEN M; MILGROM E; ROPERS HH; MARIMAN E; THEMMEN APN; BRUNNER HG
      MALE PSEUDOHERMAPHRODITISM DUE TO A HOMOZYGOUS MISSENSE MUTATION OF THE LUTEINIZING-HORMONE RECEPTOR GENE

      Nature genetics
    82. VANDERMAAREL SM; SCHOLTEN IHJM; MAATKIEVIT JA; HUBER I; DEKOK YJM; DEWIJS I; VANDEPOL TJR; VANBOKHOVEN H; DENDUNNEN JT; VANOMMEN GJB; PHILIPPE C; MONACO AP; SMEETS HJM; ROPERS HH; CREMERS FPM
      YEAST ARTIFICIAL CHROMOSOME CLONING OF THE XQ13.3-Q21.31 REGION AND FINE MAPPING OF A DELETION ASSOCIATED WITH CHOROIDEREMIA AND NONSPECIFIC MENTAL-RETARDATION

      European journal of human genetics
    83. DEKOK YJM; MERKX GFM; VANDERMAAREL SM; HUBER I; MALCOLM S; ROPERS HH; CREMERS FPM
      A DUPLICATION PARACENTRIC INVERSION ASSOCIATED WITH FAMILIAL X-LINKEDDEAFNESS (DFN3) SUGGESTS THE PRESENCE OF A REGULATORY ELEMENT MORE THAN 400 KB UPSTREAM OF THE POU3F4 GENE

      Human molecular genetics
    84. PHILIPPE C; ARNOULD C; SLOAN F; VANBOKHOVEN H; VANDERVELDEVISSER SD; CHERY M; ROPERS HH; GILGENKRANTZ S; MONACO AP; CREMERS FPM
      A HIGH-RESOLUTION INTERVAL MAP OF THE Q21 REGION OF THE HUMAN X-CHROMOSOME

      Genomics
    85. BRUNNER HG; ROPERS HH
      SPECIFICATION OF THE PHENOTYPE REQUIRED FOR MEN WITH MONOAMINE-OXIDASE TYPE-A DEFICIENCY - REPLY

      Human genetics
    86. MARIMAN ECM; VANBEERSUM SEC; CREMERS CWRJ; STRUYCKEN PM; ROPERS HH
      FINE MAPPING OF A PUTATIVELY IMPRINTED GENE FOR FAMILIAL NONCHROMAFFIN PARAGANGLIOMAS TO CHROMOSOME 11Q13.1 - EVIDENCE FOR GENETIC-HETEROGENEITY

      Human genetics
    87. BERGER W; VANDUIJNHOVEN G; PINCKERS A; SMITS A; ROPERS HH; CREMERS F
      LINKAGE ANALYSIS IN A DUTCH FAMILY WITH X-LINKED RECESSIVE CONGENITALSTATIONARY NIGHT BLINDNESS (XL-CSNB)

      Human genetics
    88. HAMEL BCJ; DRAAISMA JMT; PINCKERS AJLG; BOETES C; HOPPE RLE; ROPERS HH; BRUNNER HG
      AUTOSOMAL RECESSIVE MELNICK-NEEDLES SYNDROME OR TER HAAR SYNDROME - REPORT OF A PATIENT AND REAPPRAISAL OF AN EARLIER REPORT

      American journal of medical genetics
    89. VIKKULA M; MARIMAN ECM; LUI VCH; ZHIDKOVA NI; TILLER GE; GOLDRING MB; VANBEERSUM SEC; MALEFIJT MCD; VANDENHOOGEN FHJ; ROPERS HH; MAYNE R; CHEAH KSE; OLSEN BR; WARMAN ML; BRUNNER HG
      AUTOSOMAL-DOMINANT AND RECESSIVE OSTEOCHONDRODYSPLASIAS ASSOCIATED WITH THE COL11A2 LOCUS

      Cell
    90. DEKOK YJM; VANDERMAAREL SM; BITNERGLINDZICZ M; HUBER I; MONACO AP; MALCOLM S; PEMBREY ME; ROPERS HH; CREMERS FPM
      ASSOCIATION BETWEEN X-LINKED MIXED DEAFNESS AND MUTATIONS IN THE POU DOMAIN GENE POU3F4

      Science
    91. MARIMAN ECM; GABREELSFESTEN AAWM; VANBEERSUM SEC; VALENTIJN LJ; BOLHUIS PA; BAAS F; ROPERS HH; GABREELS FJM
      ELUCIDATION OF THE MOLECULAR DEFECT CAUSING A SEVERE TYPE OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES COMMON 1.5 MB DELETION IN CHROMOSOME-17P

      American journal of human genetics
    92. KALSCHEUER V; RIESEWIJK A; SCHEPENS M; WELCH T; VANDENBERGLOONEN E; MARIMAN E; ROPERS HH
      MATERNAL-SPECIFIC METHYLATION OF THE HUMAN INSULIN-LIKE GROWTH-FACTOR-2 RECEPTOR GENE IS NOT ACCOMPANIED BY MONOALLELIC EXPRESSION

      American journal of human genetics
    93. VANDENHURK J; OERLEMANS F; VANDEPOL D; JAISSLE G; RUTHER K; ROPERS HH; WIERINGA B; CREMERS F; HENDRIKS W
      MATERNAL TRANSMISSION OF A CHOROIDEREMIA MUTATION IN MICE IS EMBRYONIC LETHAL

      American journal of human genetics
    94. ROEPMAN R; VANDUIJNHOVEN G; CREMERS FPM; ROSENBERG T; SCHWARZ M; BLEEKERWAGEMAKERS EM; ROPERS HH; BERGER W
      ISOLATION OF A CANDIDATE GENE FOR RP3

      American journal of human genetics
    95. BERGER W; VANDERPOL D; BACHNER D; OERLEMANS F; WINKENS H; HAMEISTER H; WIERINGA B; HENDRIKS W; ROPERS HH
      A MOUSE MODEL FOR NORRIE DISEASE

      American journal of human genetics
    96. WIJKER M; LIGTENBERG MJL; SCHOUTE F; DEFESCHE JC; PALS G; BOLHUIS PA; ROPERS HH; HULSEBOS TJM; MENKO FH; VANOOST BA; LUNGAROTTI MS; ARWERT F
      THE GENE FOR HEREDITARY BULLOUS DYSTROPHY, X-LINKED MACULAR TYPE, MAPS TO THE XQ27.3-QTER REGION

      American journal of human genetics
    97. BRUNNER HG; VANBEERSUM SEC; WARMAN ML; OLSEN BR; ROPERS HH; MARIMAN ECM
      A STICKLER SYNDROME GENE IS LINKED TO CHROMOSOME-6 NEAR THE COL11A2 GENE

      Human molecular genetics
    98. VANBOKHOVEN H; VANGENDEREN C; ROPERS HH; CREMERS FPM
      DINUCLEOTIDE REPEAT POLYMORPHISM WITHIN THE CHOROIDEREMIA GENE AT XQ21.2

      Human molecular genetics
    99. VANBOKHOVEN H; VANDENHURK JAJM; BOGERD L; PHILIPPE C; GILGENKRANTZ S; DEJONG P; ROPERS HH; CREMERS FPM
      CLONING AND CHARACTERIZATION OF THE HUMAN CHOROIDEREMIA GENE

      Human molecular genetics
    100. VANBOKHOVEN H; SCHWARTZ M; ANDREASSON S; VANDENHURK JAJM; BOGERD L; JAY M; RUTHER K; JAY B; PAWLOWITZKI IH; SANKILA EM; WRIGHT A; ROPERS HH; ROSENBERG T; CREMERS FPM
      MUTATION SPECTRUM IN THE CHM GENE OF DANISH AND SWEDISH CHOROIDEREMIAPATIENTS

      Human molecular genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/06/20 alle ore 22:32:13