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La ricerca find articoli where soggetti phrase all words 'NIJMEGEN BREAKAGE SYNDROME' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 125 riferimenti
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    1. Bruschi, GCM; de Souza, CC; Fagundes, MRVK; Dani, MAC; Goldman, MHS; Morris, NR; Liu, L; Goldman, GH
      Sensitivity to camptothecin in Aspergillus nidulans identifies a novel gene, scaA(+), related to the cellular DNA damage response

      MOLECULAR GENETICS AND GENOMICS
    2. Moses, RE
      DNA damage processing defects and disease

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    3. Taylor, AMR
      Chromosome instability syndromes

      BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY
    4. McKinnon, PJ
      Ataxia telangiectasia: new neurons and ATM

      TRENDS IN MOLECULAR MEDICINE
    5. Hoffmann, W; Oberheitmann, B; Frentzel-Beyme, R
      "Host factors" - evolution of concepts of individual sensitivity and susceptibility

      INTERNATIONAL JOURNAL OF HYGIENE AND ENVIRONMENTAL HEALTH
    6. Mochida, GH; Walsh, CA
      Molecular genetics of human microcephaly

      CURRENT OPINION IN NEUROLOGY
    7. Usui, T; Ogawa, H; Petrini, JHJ
      A DNA damage response pathway controlled by Tel1 and the Mre11 complex

      MOLECULAR CELL
    8. Gatti, RA; Becker-Catania, S; Chun, HH; Sun, X; Mitui, M; Lai, CH; Khanlou, N; Babaei, M; Cheng, R; Clark, C; Huo, Y; Udar, NC; Iyer, RK
      The pathogenesis of ataxia-telangiectasia - Learning from a Rosetta Stone

      CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
    9. Taylor, EM; Moghraby, JS; Lees, JH; Smit, B; Moens, PB; Lehmann, AR
      Characterization of a novel human SMC heterodimer homologous to the Schizosaccharomyces pombe Rad18/Apr18 complex

      MOLECULAR BIOLOGY OF THE CELL
    10. Tuteja, N; Tuteja, R
      Unraveling DNA repair in human: Molecular mechanisms and consequences of repair defect

      CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY
    11. Yamane, K; Katayama, E; Tsuruo, T
      p53 contains a DNA break-binding motif similar to the functional part of BRCT-related region of Rb

      ONCOGENE
    12. Kraakman-van der Zwet, M; Overkamp, WJI; Jaspers, NGJ; Natarajan, AT; Lohman, PHM; Zdzienicka, MZ
      Complementation of chromosomal aberrations in AT/NBS hybrids: inadequacy of RDS as an endpoint in complementation studies with immortal NBS cells

      MUTATION RESEARCH-DNA REPAIR
    13. Tachibana, A; Tatsumi, K; Furuno-Fukushi, I; Sasaki, MS
      High frequency of deletions at the hypoxanthine-guanine phosphoribosyltransferase locus in an ataxia-telangiectasia lymphoblastoid cell line irradiated with gamma-rays

      JAPANESE JOURNAL OF CANCER RESEARCH
    14. D'Amours, D; Jackson, SP
      The yeast Xrs2 complex functions in S phase checkpoint regulation

      GENES & DEVELOPMENT
    15. Crompton, NEA; Shi, YQ; Emery, GC; Wisser, L; Blattmann, H; Maier, A; Li, L; Schindler, D; Ozsahin, H; Ozsahin, M
      Sources of variation in patient response to radiation treatment

      INTERNATIONAL JOURNAL OF RADIATION ONCOLOGY BIOLOGY PHYSICS
    16. Rosenzweig, SD; Russo, RAG; Gallego, M; Zelazko, M
      Juvenile rheumatoid arthritis-like polyarthritis in Nijmegen breakage syndrome

      JOURNAL OF RHEUMATOLOGY
    17. Gatti, RA
      The inherited basis of human radiosensitivity

      ACTA ONCOLOGICA
    18. Desai-Mehta, A; Cerosaletti, KM; Concannon, P
      Distinct functional domains of nibrin mediate Mre11 binding, focus formation, and nuclear localization

      MOLECULAR AND CELLULAR BIOLOGY
    19. Maser, RS; Mirzoeva, OK; Wells, J; Olivares, H; Williams, BR; Zinkel, RA; Farnham, PJ; Petrini, JHJ
      Mre11 complex and DNA replication: Linkage to E2F and sites of DNA synthesist

      MOLECULAR AND CELLULAR BIOLOGY
    20. Buscemi, G; Savio, C; Zannini, L; Micciche, F; Masnada, D; Nakanishi, M; Tauchi, H; Komatsu, K; Mizutani, S; Khanna, K; Chen, P; Concannon, P; Chessa, L; Delia, D
      Chk2 activation dependence on Nbs1 after DNA damage

      MOLECULAR AND CELLULAR BIOLOGY
    21. Xu, B; Kim, ST; Kastan, MB
      Involvement of Brca1 in S-phase and G(2)-phase checkpoints after ionizing irradiation

      MOLECULAR AND CELLULAR BIOLOGY
    22. Arutyunyan, R; Neubauer, S; Martus, P; Dork, T; Stumm, M; Gebhart, E
      Intercellular distribution of aberrations detected by means of chromosome painting in cells of patients with cancer prone chromosome instability syndromes

      EXPERIMENTAL ONCOLOGY
    23. Hendry, JH
      Genomic instability: potential contributions to tumour and normal tissue response, and second tumours, after radiotherapy

      RADIOTHERAPY AND ONCOLOGY
    24. Stumm, P; von Ruskowsky, A; Siebert, R; Harder, S; Varon, R; Wieacker, P; Schlegelberger, B
      No evidence for deletions of the NBS1 gene in lymphomas

      CANCER GENETICS AND CYTOGENETICS
    25. Yamada, M; Matsuura, S; Tsukahara, M; Ebe, K; Ohtsu, M; Furuta, H; Kobayashi, I; Kawamura, N; Okano, M; Shouji, R; Kobayashi, K
      Combined immunodeficiency, chromosomal instability, and postnatal growth deficiency in a Japanese girl

      AMERICAN JOURNAL OF MEDICAL GENETICS
    26. Doria, G; Frasca, D
      Age-related changes of DNA damage recognition and repair capacity in cellsof the immune system

      MECHANISMS OF AGEING AND DEVELOPMENT
    27. Xiao, J; Liu, CC; Chen, PL; Lee, WH
      RINT-1, a novel Rad50-interacting protein, participates in radiation-induced G(2)/M checkpoint control

      JOURNAL OF BIOLOGICAL CHEMISTRY
    28. Stewart, GS; Last, JIK; Stankovic, T; Haites, N; Kidd, AMJ; Byrd, PJ; Taylor, AMR
      Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T -> G mutations, showing a less severe phenotype

      JOURNAL OF BIOLOGICAL CHEMISTRY
    29. Takagi, M; Sueishi, M; Saiwaki, T; Kametaka, A; Yoneda, Y
      A novel nucleolar protein, NIFK, interacts with the forkhead associated domain of Ki-67 antigen in mitosis

      JOURNAL OF BIOLOGICAL CHEMISTRY
    30. Wang, YZ; Beerman, TA; Kowalski, D
      Antitumor drug adozelesin differentially affects active and silent originsof DNA replication in yeast checkpoint kinase mutants

      CANCER RESEARCH
    31. Kastan, MB; Lim, DS
      The many substrates and functions of ATM

      NATURE REVIEWS MOLECULAR CELL BIOLOGY
    32. Kato, M; Yano, K; Matsuo, F; Saito, H; Katagiri, T; Kurumizaka, H; Yoshimoto, M; Kasumi, F; Akiyama, F; Sakamoto, G; Nagawa, H; Nakamura, Y; Miki, Y
      Identification of Rad51 alteration in patients with bilateral breast cancer

      JOURNAL OF HUMAN GENETICS
    33. Guilford, P
      The inherited susceptibility to cancer

      CELLULAR AND MOLECULAR LIFE SCIENCES
    34. Narayan, A; Tuck-Muller, C; Weissbecker, K; Smeets, D; Ehrlich, M
      Hypersensitivity to radiation-induced non-apoptotic and apoptotic death incell lines from patients with the ICF chromosome instability syndrome

      MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
    35. Durocher, D; Taylor, IA; Sarbassova, D; Haire, LF; Westcott, SL; Jackson, SP; Smerdon, SJ; Yaffe, MB
      The molecular basis of FHA Domain : Phosphopeptide binding specificity andimplications for phospho-dependent signaling mechanisms

      MOLECULAR CELL
    36. Becker-Catania, SG; Chen, G; Hwang, MJ; Wang, ZJ; Sun, X; Sanal, O; Bernatowska-Matuszkiewicz, E; Chessa, L; Lee, EYHP; Gatti, RA
      Ataxia-telangiectasia: Phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity

      MOLECULAR GENETICS AND METABOLISM
    37. Paulli, M; Viglio, A; Boveri, E; Pitino, A; Lucioni, M; Franco, C; Riboni, R; Rosso, R; Magrini, U; Marseglia, GL; Marchi, A
      Nijmegen breakage syndrome-associated T-cell-rich B-cell lymphoma: Case report

      PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
    38. Uhrhammer, N; Bay, JO; Gosse-Brun, S; Kwiatkowski, F; Rio, P; Daver, A; Bignon, YJ
      Allelic imbalance at NBS1 is frequent in both proximal and distal colorectal carcinoma

      ONCOLOGY REPORTS
    39. Rhind, N; Russell, P
      Checkpoints: It takes more than time to heal some wounds

      CURRENT BIOLOGY
    40. Lowndes, NF; Murguia, JR
      Sensing and responding to DNA damage

      CURRENT OPINION IN GENETICS & DEVELOPMENT
    41. Seidemann, K; Henze, G; Beck, JD; Sauerbrey, A; Kuhl, J; Mann, G; Reiter, A
      Non-Hodgkin's lymphoma in pediatric patients with chromosomal breakage syndromes (AT and NBS): Experience from the BFM trials

      ANNALS OF ONCOLOGY
    42. Rischewski, J; von Bismarck, P; Kabisch, H; Janka-Schaub, G; Obser, T; Schneppenheim, R
      The common deletion 657del5 in the Nibrin gene is not a major risk factor for B or T cell non-Hodgkin lymphoma in a pediatric population

      LEUKEMIA
    43. Appella, E; Anderson, CW
      Signaling to p53: breaking the posttranslational modification code

      PATHOLOGIE BIOLOGIE
    44. Spacey, SD; Gatti, RA; Bebb, G
      The molecular basis and clinical management of ataxia telangiectasia

      CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
    45. Lanson, NA; Egeland, DB; Royals, BA; Claycomb, WC
      The MRE11-NBS1-RAD50 pathway is perturbed in SV40 large T antigen-immortalized AT-1, AT-2 and HL-1 cardiomyocytes

      NUCLEIC ACIDS RESEARCH
    46. Michelson, RJ; Weinert, T
      Closing the gaps among a web of DNA repair disorders

      BIOESSAYS
    47. Hama, S; Matsuura, S; Tauchi, H; Sawada, J; Kato, C; Yamasaki, F; Yoshioka, H; Sugiyama, K; Arita, K; Kurisu, K; Kamada, N; Heike, Y; Komatsu, K
      Absence of mutations in the NBS1 gene in B-cell malignant lymphoma patients

      ANTICANCER RESEARCH
    48. Rogers, PB; Plowman, PN; Harris, SJ; Arlett, CF
      Four radiation hypersensitivity cases and their implications for clinical radiotherapy

      RADIOTHERAPY AND ONCOLOGY
    49. Rolig, RL; McKinnon, PJ
      Linking DNA damage and neurodegeneration

      TRENDS IN NEUROSCIENCES
    50. Yeo, TC; Xia, D; Hassouneh, S; Yang, XO; Sabath, DE; Sperling, K; Gatti, RA; Concannon, P; Willerford, DM
      V(D)J rearrangement in Nijmegen breakage syndrome

      MOLECULAR IMMUNOLOGY
    51. Harfst, E; Cooper, S; Neubauer, S; Distel, L; Grawunder, U
      Normal V(D)J recombination in cells from patients with Nijmegen breakage syndrome

      MOLECULAR IMMUNOLOGY
    52. Ishikawa, S; Ishikawa, M; Tokuda, T; Yoshida, K; Wakui, K; Matsuura, S; Ohara, S; Sekijima, Y; Hidaka, E; Fukushima, Y; Shigeta, H; Komatsu, K; Ikeda, S
      Japanese family with an autosomal dominant chromosome instability syndrome: A new neurodegenerative disease?

      AMERICAN JOURNAL OF MEDICAL GENETICS
    53. Durocher, D; Smerdon, SJ; Yaffe, MB; Jackson, SP
      The FHA domain in DNA repair and checkpoint signaling

      COLD SPRING HARBOR SYMPOSIA ON QUANTITATIVE BIOLOGY
    54. Kastan, MB; Lim, DS; Kim, ST; Xu, B; Canman, C
      Multiple signaling pathways involving ATM

      COLD SPRING HARBOR SYMPOSIA ON QUANTITATIVE BIOLOGY
    55. Vessey, CJ; Norbury, CJ; Hickson, ID
      Genetic disorders associated with cancer predisposition and genomic instability

      PROGRESS IN NUCLEIC ACID RESEARCH AND MOLECULAR BIOLOGY, VOL 63
    56. Hainaut, P; Hollstein, M
      p53 and human cancer: The first ten thousand mutations

      ADVANCES IN CANCER RESEARCH, VOL 77
    57. Bekiesinska-Figatowska, M; Chrzanowska, KH; Sikorska, J; Walecki, J; Krajewska-Walasek, M; Jozwiak, S; Kleijer, WJ
      Cranial MRI in the Nijmegen breakage syndrome

      NEURORADIOLOGY
    58. Lim, DS; Kim, ST; Xu, B; Maser, RS; Lin, JY; Petrini, JHJ; Kastan, MB
      ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway

      NATURE
    59. Zaletaev, DV
      DNA diagnostics in oncology

      MOLECULAR BIOLOGY
    60. Wu, GK; Lee, WH; Chen, PL
      NBS1 and TRF1 colocalize at promyelocytic leukemia bodies during late S/G(2) phases in immortalized telomerase-negative cells - Implication of NBS1 in alternative lengthening of telomeres

      JOURNAL OF BIOLOGICAL CHEMISTRY
    61. Tanaka, K; Hiramoto, T; Fukuda, T; Miyagawa, K
      A novel human Rad54 homologue, Rad54B, associates with Rad51

      JOURNAL OF BIOLOGICAL CHEMISTRY
    62. O'Neill, T; Dwyer, AJ; Ziv, Y; Chan, DW; Lees-Miller, SP; Abraham, RH; Lai, JH; Hill, D; Shiloh, Y; Cantley, LC; Rathbun, GA
      Utilization of oriented peptide libraries to identify substrate motifs selected by ATM

      JOURNAL OF BIOLOGICAL CHEMISTRY
    63. Xiao, W; Chow, BL; Broomfield, S; Hanna, M
      The Saccharomyces cerevisiae RAD6 group is composed of an error-prone and two error-free postreplication repair pathways

      GENETICS
    64. Lantelme, E; Mantovani, S; Palermo, B; Campanelli, R; Granziero, L; Monafo, V; Giachino, C
      Increased frequency of RAG-expressing, CD4(+)CD3(low) peripheral T lymphocytes in patients with defective responses to DNA damage

      EUROPEAN JOURNAL OF IMMUNOLOGY
    65. Gennery, AR; Cant, AJ; Jeggo, PA
      Immunodeficiency associated with DNA repair defects

      CLINICAL AND EXPERIMENTAL IMMUNOLOGY
    66. Stanulla, M; Stumm, M; Dieckvoss, BO; Seidemann, K; Schemmel, V; Brechlin, AM; Schrappe, M; Welte, K; Reiter, A
      No evidence for a major role of heterozygous deletion 657del5 within the NBS1 gene in the pathogenesis of non-Hodgkin's lymphoma of childhood and adolescence

      BRITISH JOURNAL OF HAEMATOLOGY
    67. Yamane, K; Katayama, E; Tsuruo, T
      The BRCT regions of tumor suppressor BRCA1 and of XRCC1 show DNA end binding activity with a multimerizing feature

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    68. Goodship, J; Gill, H; Carter, J; Jackson, A; Splitt, M; Wright, M
      Autozygosity mapping of a Seckel syndrome locus to chromosome 3q22.1-q24

      AMERICAN JOURNAL OF HUMAN GENETICS
    69. Hall, J; Angele, S
      Radiation, DNA damage and cancer

      MOLECULAR MEDICINE TODAY
    70. Chen, C; Kolodner, RD
      Gross chromosomal rearrangements in Saccharomyces cerevisiae replication and recombination defective mutants

      NATURE GENETICS
    71. Uhrhammer, N; Bay, JO; Pernin, D; Rio, P; Grancho, M; Kwiatkowski, F; Gosse-Brun, S; Daver, A; Bignon, YJ
      Loss of heterozygosity at the ATM locus in colorectal carcinoma

      ONCOLOGY REPORTS
    72. Jongmans, W; Hall, J
      Cellular responses to radiation and risk of breast cancer

      EUROPEAN JOURNAL OF CANCER
    73. Lavin, LF; Khanna, KK
      Review: ATM: the protein encoded by the gene mutated in the radiosensitivesyndrome ataxia-telangiectasia

      INTERNATIONAL JOURNAL OF RADIATION BIOLOGY
    74. Scott, D; Barber, JBP; Spreadborough, AR; Burrill, W; Roberts, SA
      Increased chromosomal radiosensitivity in breast cancer patients: a comparison of two assays

      INTERNATIONAL JOURNAL OF RADIATION BIOLOGY
    75. Conley, ME
      Genetic effects on immunity - New genes - how do they fit? Editorial overview

      CURRENT OPINION IN IMMUNOLOGY
    76. Lakin, ND; Jackson, SP
      Regulation of p53 in response to DNA damage

      ONCOGENE
    77. Yamane, K; Tsuruo, T
      Conserved BRCT regions of TopBP1 and of the tumor suppressor BRCA1 bind strand breaks and termini of DNA

      ONCOGENE
    78. Hiramoto, T; Nakanishi, T; Sumiyoshi, T; Fukuda, T; Matsuura, S; Tauchi, H; Komatsu, K; Shibasaki, Y; Inui, H; Watatani, M; Yasutomi, M; Sumii, K; Kajiyama, G; Kamada, N; Miyagawa, K; Kamiya, K
      Mutations of a novel human RAD54 homologue, RAD54B, in primary cancer

      ONCOGENE
    79. Matsuda, M; Miyagawa, K; Takahashi, M; Fukuda, T; Kataoka, T; Asahara, T; Inui, H; Watatani, M; Yasutomi, M; Kamada, N; Dohi, K; Kamiya, K
      Mutations in the RAD54 recombination gene in primary cancers

      ONCOGENE
    80. Piret, B; Schoonbroodt, S; Piette, J
      The ATM protein is required for sustained activation of NF-kappa B following DNA damage

      ONCOGENE
    81. Kraakman-van der Zwet, M; Overkamp, WJI; Friedl, AA; Klein, B; Verhaegh, GWCT; Jaspers, NGJ; Midro, AT; Eckardt-Schupp, F; Lohman, PHM; Zdzienicka, MZ
      Immortalization and characterization of Nijmegen Breakage Syndrome fibroblasts

      MUTATION RESEARCH-DNA REPAIR
    82. Paull, TT; Gellert, M
      Nbs1 potentiates ATP-driven DNA unwinding and endonuclease cleavage by theMre11/Rad50 complex

      GENES & DEVELOPMENT
    83. Bay, JO; Uhrhammer, N; Hall, J; Stoppa-Lyonnet, D; Bignon, YJ
      ATM functions and ataxia-telangectasia phenotypes

      M S-MEDECINE SCIENCES
    84. Hirsch-Kauffmann, M; Schweiger, M
      Aging and chromosomal instability

      REVIEWS OF PHYSIOLOGY BIOCHEMISTRY AND PHARMACOLOGY, VOL 139
    85. Zdzienicka, MZ
      Mammalian X-ray-sensitive mutants which are defective in non-homologous (illegitimate) DNA double-strand break repair

      BIOCHIMIE
    86. Chakraverty, RK; Hickson, ID
      Defending genome integrity during DNA replication: a proposed role for RecQ family helicases

      BIOESSAYS
    87. Yamaguchi-Iwai, Y; Sonoda, E; Sasaki, MS; Morrison, C; Haraguchi, T; Hiraoka, Y; Yamashita, YM; Yagi, T; Takata, M; Price, C; Kakazu, N; Takeda, S
      Mre11 is essential for the maintenance of chromosomal DNA in vertebrate cells

      EMBO JOURNAL
    88. Chessa, L; Piane, M; Prudente, S; Carducci, C; Mazzilli, MC; Pachti, A; Negrini, M; Narducci, MG; Russo, G; Frati, L
      Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays

      PRENATAL DIAGNOSIS
    89. Simpson, JL; Rajkovic, A
      Ovarian differentiation and gonadal failure

      AMERICAN JOURNAL OF MEDICAL GENETICS
    90. Seidemann, K; Tiemann, M; Henze, G; Sauerbrey, A; Muller, S; Reiter, A
      Therapy for non-Hodgkin lymphoma in children with primary immunodeficiency: Analysis of 19 patients from the BFM trials

      MEDICAL AND PEDIATRIC ONCOLOGY
    91. Kim, ST; Lim, DS; Canman, CE; Kastan, MB
      Substrate specificities and identification of putative substrates of ATM kinase family members

      JOURNAL OF BIOLOGICAL CHEMISTRY
    92. Ito, A; Tauchi, H; Kobayashi, J; Morishima, K; Nakamura, A; Hirokawa, Y; Matsuura, S; Ito, K; Komatsu, K
      Expression of full-length NBS1 protein restores normal radiation responsesin cells from nijmegen breakage syndrome patients

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    93. Petrini, JHJ
      The mammalian Mre11-Rad50-Mbs1 protein complex: Integration of functions in the cellular DNA-damage response

      AMERICAN JOURNAL OF HUMAN GENETICS
    94. BROEKS A; DEKLEIN A; FLOORE AN; MUIJTJENS M; KLEIJER WJ; JASPERS NG; VANTVEER LJ
      ATM GERMLINE MUTATIONS IN CLASSICAL ATAXIA-TELANGIECTASIA PATIENTS INTHE DUTCH POPULATION

      Human mutation
    95. Dean, FB; Lian, LB; O'Donnell, M
      CDNA cloning and Gene Mapping of Human Homologs for Schizosaccharomyces pombe rad17, rad1, and hus1 and cloning of homologs from mouse, Caenorhabditis elegans, and Drosophila melanogaster

      GENOMICS
    96. Resnick, IB; Kondratenko, MV; Ataeva, DM; Kuleshov, NP; Maschan, AA; Notarangelo, LD; Notarangelo, LD
      Primary immunodeficiency with microcephalia: clinical presentation, immunological and hematological disorders in various syndromes.

      GEMATOLOGIYA I TRANSFUZIOLOGIYA
    97. SCOTT D; BARBER JBP; LEVINE EL; BURRILL W; ROBERTS SA
      RADIATION-INDUCED MICRONUCLEUS INDUCTION IN LYMPHOCYTES IDENTIFIES A HIGH-FREQUENCY OF RADIOSENSITIVE CASES AMONG BREAST-CANCER PATIENTS - A TEST FOR PREDISPOSITION

      British Journal of Cancer
    98. MATSUURA K; BALMUKHANOV T; TAUCHI H; WEEMAES C; SMEETS D; CHRZANOWSKA K; ENDOU S; MATSUURA S; KOMATSU K
      RADIATION INDUCTION OF P53 IN CELLS FROM NIJMEGEN BREAKAGE SYNDROME IS DEFECTIVE BUT NOT SIMILAR TO ATAXIA-TELANGIECTASIA

      Biochemical and biophysical research communications
    99. CONCANNON P; GATTI RA
      DIVERSITY OF ATM GENE-MUTATIONS DETECTED IN PATIENTS WITH ATAXIA-TELANGIECTASIA

      Human mutation
    100. BREWER CM; GRACE E; STARK GD; GREGORY DW; HOWELL RT; FITZPATRICK DR
      GENOMIC INSTABILITY ASSOCIATED WITH LIMB DEFECTS - CASE-REPORT AND REVIEW OF THE LITERATURE

      Clinical dysmorphology


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Documento generato il 27/01/21 alle ore 11:20:49