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La ricerca find articoli where soggetti phrase all words 'HEREDITARY RETINOBLASTOMA' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 76 riferimenti
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    1. Rotchell, JM; Ulnal, E; Van Beneden, RJ; Ostrander, GK
      Retinoblastoma gene mutations in chemically induced liver tumor samples ofJapanese medaka (Oryzias latipes).

      MARINE BIOTECHNOLOGY
    2. Alonso, J; Garcia-Miguel, P; Abelairas, J; Mendiola, M; Sarret, E; Vendrell, MT; Navajas, A; Pestana, A
      Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications

      HUMAN MUTATION
    3. Alonso, J; Garcia-Miguel, P; Abelairas, J; Mendiola, M; Pestana, A
      A microsatellite fluorescent method for linkage analysis in familial retinoblastoma and deletion detection at the RBI locus in retinoblastoma and osteosarcoma

      DIAGNOSTIC MOLECULAR PATHOLOGY
    4. Genuardi, M; Klutz, M; Devriendt, K; Caruso, D; Stirpe, M; Lohmann, DR
      Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma

      EUROPEAN JOURNAL OF HUMAN GENETICS
    5. Herzog, S; Lohmann, DR; Buiting, K; Schuler, A; Horsthemke, B; Rehder, H; Rieder, H
      Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization

      HUMAN GENETICS
    6. Kivela, T; Asko-Seljavaara, S; Pihkala, U; Hovi, L; Heikkonen, J
      Sebaceous carcinoma of the eyelid associated with retinoblastoma

      OPHTHALMOLOGY
    7. Winther, JF; Sankila, R; Boice, JD; Tulinius, H; Bautz, A; Barlow, L; Glattre, E; Langmark, F; Moller, TR; Mulvihill, JJ; Olafsdottir, GH; Ritvanen, A; Olsen, JH
      Cancer in siblings of children with cancer in the Nordic countries: a population-based cohort study

      LANCET
    8. Cope, JU; Tsokos, M; Miller, RW
      Ewing sarcoma and sinonasal neuroectodermal tumors as second malignant tumors after retinoblastoma and other neoplasms

      MEDICAL AND PEDIATRIC ONCOLOGY
    9. Najera, C; Sanchez, F; Mateu, E; Prieto, F; Beneyto, M
      Early diagnosis of retinoblastoma: usefulness of searching for RB1 gene mutations

      MEDICINA CLINICA
    10. Liang, SX; Lakshmanan, Y; Woda, BA; Jiang, Z
      A high-grade primary leiomyosarcoma of the bladder in a survivor of retinoblastoma

      ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE
    11. Harbour, JW
      Molecular basis of low-penetrance retinoblastoma

      ARCHIVES OF OPHTHALMOLOGY
    12. Orjuela, M; Castaneda, VP; Ridaura, C; Lecona, E; Leal, C; Abramson, DH; Orlow, I; Gerald, W; Cordon-Cardo, C
      Presence of human papilloma virus in tumor tissue from children with retinoblastoma: An alternative mechanism for tumor development

      CLINICAL CANCER RESEARCH
    13. Sanchez, F; Mateu, E; Beneyto, M; Najera, C; Prieto, F
      A constitutional homozygous mutation in the RB1 gene in a patient with unilateral retinoblastoma

      JOURNAL OF MEDICAL GENETICS
    14. Moll, AC; Imhof, SM; Schouten-Van Meeteren, AYN; Boers, M
      At what age could screening for familial retinoblastoma be stopped? A register based study 1945-98

      BRITISH JOURNAL OF OPHTHALMOLOGY
    15. Morris, SD; Onadim, Z; Yu, RO
      A case of naevus sebaceous associated with familial retinoblastoma, multiple lipomata and meningioma

      BRITISH JOURNAL OF DERMATOLOGY
    16. Fahsold, R; Hoffmeyer, S; Mischung, C; Gille, C; Ehlers, C; Kucukceylan, N; Abdel-Nour, M; Gewies, A; Peters, H; Kaufmann, D; Buske, A; Tinschert, S; Nurnberg, P
      Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the CAP-related domain

      AMERICAN JOURNAL OF HUMAN GENETICS
    17. Zajaczek, S; Jakubowska, A; Gorski, B; Kurzawski, G; Krzystolik, Z; Lubinski, J
      Frequency and nature of germline Rb-1 gene mutations in a series of patients with sporadic unilateral retinoblastoma

      EUROPEAN JOURNAL OF CANCER
    18. Sutterlin, M; Abou Sleiman, P; Onadim, Z; Delhanty, J
      Single cell detection of inherited retinoblastoma predisposition

      PRENATAL DIAGNOSIS
    19. Hagstrom, SA; Dryja, TP
      Mitotic recombination map of 13cen-13q14 derived from an investigation of loss of heterozygosity in retinoblastomas

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    20. Paulino, AC
      Trilateral retinoblastoma - Is the location of the intracranial tumor important?

      CANCER
    21. Otterson, GA; Modi, S; Nguyen, K; Coxon, AB; Kaye, FJ
      Temperature-sensitive RB mutations linked to incomplete penetrance of familial retinoblastoma in 12 families

      AMERICAN JOURNAL OF HUMAN GENETICS
    22. Klutz, M; Horsthemke, B; Lohmann, DR
      RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma

      AMERICAN JOURNAL OF HUMAN GENETICS
    23. Cowell, JK; Gallie, BL
      Which retinoblastoma patients should be screened for RB1 mutations?

      EUROPEAN JOURNAL OF CANCER
    24. Zajaczek, S; Jakubowska, A; Kurzawski, G; Krzystolik, Z; Lubinski, J
      Age at diagnosis to discriminate those patients for whom constitutional DNA sequencing is appropriate in sporadic unilateral retinoblastoma

      EUROPEAN JOURNAL OF CANCER
    25. SOMERVILLE RPT; SHOSHAN Y; ENG C; BARNETT G; MILLER D; COWELL JK
      MOLECULAR ANALYSIS OF 2 PUTATIVE TUMOR-SUPPRESSOR GENES, PTEN AND DMBT, WHICH HAVE BEEN IMPLICATED IN GLIOBLASTOMA-MULTIFORME DISEASE PROGRESSION

      Oncogene
    26. COWELL JK; BIA B
      A NOVEL MISSENSE MUTATION IN PATIENTS FROM A RETINOBLASTOMA PEDIGREE SHOWING ONLY MILD EXPRESSION OF THE TUMOR PHENOTYPE

      Oncogene
    27. GIRARDET A; BEAUFRERE L; TUFFERY S; CLAUSTRES M; PELLESTOR F
      RETINOBLASTOMA - IMPORTANCE OF GENETIC-CO UNSELING

      Journal francais d'ophtalmologie
    28. HARBOUR JW
      OVERVIEW OF RB GENE-MUTATIONS IN PATIENTS WITH RETINOBLASTOMA - IMPLICATIONS FOR CLINICAL GENETIC SCREENING

      Ophthalmology (Rochester, Minn.)
    29. ABRAMSON DH; FRANK CM
      2ND-NONOCULAR-TUMORS IN SURVIVORS OF BILATERAL RETINOBLASTOMA - A POSSIBLE AGE EFFECT ON RADIATION-RELATED RISK

      Ophthalmology
    30. HASEGAWA T; MATSUNO Y; NIKI T; HIROHASHI S; SHIMODA T; TAKAYAMA J; WATANABE C; KANEKO A; SANO T; SATO M; SUZUKI JI
      2ND PRIMARY RHABDOMYOSARCOMAS IN PATIENTS WITH BILATERAL RETINOBLASTOMA - A CLINICOPATHOLOGICAL AND IMMUNOHISTOCHEMICAL STUDY

      The American journal of surgical pathology
    31. Griep, AE; Krawcek, J; Lee, D; Liem, A; Albert, DM; Carabeo, R; Drinkwater, N; McCall, M; Sattler, C; Lasudry, JGH; Lambert, PF
      Multiple genetic loci modify risk for retinoblastoma in transgenic mice

      INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
    32. BRUGIERES L
      GENETIC PREDISPOSITION TO CHILDHOOD-CANCE R

      Annales de pediatrie
    33. LOHMANN D; HORSTHEMKE B
      GENETIC AND MOLECULAR DIAGNOSTICS IN RETINOBLASTOMA

      Klinische Monatsblatter fur Augenheilkunde
    34. HOWREY RP; LIPHAM WJ; SCHULTZ WH; BUCKLEY EG; DUTTON JJ; KLINTWORTH GK; ROSOFF PM
      SEBACEOUS GLAND CARCINOMA - A SUBTLE 2ND MALIGNANCY FOLLOWING RADIATION-THERAPY IN PATIENTS WITH BILATERAL RETINOBLASTOMA

      Cancer
    35. SIPPEL KC; FRAIOLI RE; SMITH GD; SCHALKOFF ME; SUTHERLAND J; GALLIE BL; DRYJA TP
      FREQUENCY OF SOMATIC AND GERM-LINE MOSAICISM IN RETINOBLASTOMA - IMPLICATIONS FOR GENETIC-COUNSELING

      American journal of human genetics
    36. BASSETT JHD; FORBES SA; PANNETT AAJ; LLOYD SE; CHRISTIE PT; WOODING C; EDWARDS CR; MONSON JP; SAMPSON J; WASS JAH; HARDING B; BESSER GM; WHEELER MH; THAKKER RV
      CHARACTERIZATION OF MUTATIONS IN PATIENTS WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE-1

      American journal of human genetics
    37. RIEDER H; LOHMANN D; POENSGEN B; FRITZ B; ASLAN M; DROHM D; ANGERSBACH FJS; REHDER H
      LOSS OF HETEROZYGOSITY OF THE RETINOBLASTOMA (RB1) GENE IN LIPOMAS FROM A RETINOBLASTOMA PATIENT

      Journal of the National Cancer Institute
    38. MOLL AC; IMHOF SM; BOUTER LM; TAN KEWP
      2ND PRIMARY TUMORS IN PATIENTS WITH RETINOBLASTOMA - A REVIEW OF THE LITERATURE

      Ophthalmic genetics
    39. ENG C; VIJG J
      GENETIC TESTING - THE PROBLEMS AND THE PROMISE

      Nature biotechnology
    40. PELLIN A; BOIXFERRERO J; CARPIO D; LOPEZTERRADA D; CARDA C; NAVARRO S; PEYDROOLAYA A; TRICHE TJ; LLOMBARTBOSCH A
      MOLECULAR ALTERATIONS OF THE RB1, TP53, AND MDM2 GENES IN PRIMARY ANDXENOGRAFTED HUMAN OSTEOSARCOMAS

      Diagnostic molecular pathology
    41. LOHMANN DR; BRANDT B; PASSARGE E; HORSTHEMKE B
      MOLECULAR ANALYSIS AND PREDICTIVE TESTING IN RETINOBLASTOMA - IMPACT ON OPHTHALMOLOGIC ROUTINE

      Der Ophthalmologe
    42. SELLERS WR; KAELIN WG
      ROLE OF THE RETINOBLASTOMA PROTEIN IN THE PATHOGENESIS OF HUMAN CANCER

      Journal of clinical oncology
    43. SCHUBERT EL; STRONG LC; HANSEN MF
      A SPLICING MUTATION IN RB1 IN LOW PENETRANCE RETINOBLASTOMA

      Human genetics
    44. DRYJA TP; MORROW JF; RAPAPORT JM
      QUANTIFICATION OF THE PATERNAL ALLELE BIAS FOR NEW GERMLINE MUTATIONSIN THE RETINOBLASTOMA GENE

      Human genetics
    45. MATEU E; SANCHEZ F; NAJERA C; BENEYTO M; CASTELL V; HERNANDEZ M; SERRA I; PRIETO F
      GENETICS OF RETINOBLASTOMA - A STUDY

      Cancer genetics and cytogenetics
    46. WONG FL; BOICE JD; ABRAMSON DH; TARONE RE; KLEINERMAN RA; STOVALL M; GOLDMAN MB; SEDDON JM; TARBELL N; FRAUMENI JF; LI FP
      CANCER INCIDENCE AFTER RETINOBLASTOMA - RADIATION-DOSE AND SARCOMA RISK

      JAMA, the journal of the American Medical Association
    47. OTTERSON GA; CHEN WD; COXON AB; KHLEIF SN; KAYE FJ
      INCOMPLETE PENETRANCE OF FAMILIAL RETINOBLASTOMA LINKED TO GERM-LINE MUTATIONS THAT RESULT IN PARTIAL LOSS OF RB FUNCTION

      Proceedings of the National Academy of Sciences of the United Statesof America
    48. MOLL AC; KUIK DJ; BOUTER LM; DENOTTER W; BEZEMER PD; KOTEN JW; IMHOF SM; KUYT BP; TAN KEWP
      INCIDENCE AND SURVIVAL OF RETINOBLASTOMA IN THE NETHERLANDS - A REGISTER-BASED STUDY 1862-1995

      British journal of ophthalmology
    49. ONADIM Z; WOOLFORD AJ; KINGSTON JE; HUNGERFORD JL
      THE RB1 GENE MUTATION IN A CHILD WITH ECTOPIC INTRACRANIAL RETINOBLASTOMA

      British Journal of Cancer
    50. BREMNER R; DU DC; CONNOLLYWILSON MJ; BRIDGE P; AHMAD KF; MOSTACHFI H; RUSHLOW D; DUNN JM; GALLIE BL
      DELETION OF RB EXON-24 AND EXON-25 CAUSES LOW-PENETRANCE RETINOBLASTOMA

      American journal of human genetics
    51. GALLIE BL
      PREDICTIVE TESTING FOR RETINOBLASTOMA COMES OF AGE

      American journal of human genetics
    52. LOHMANN DR; GERICK M; BRANDT B; OELSCHLAGER U; LORENZ B; PASSARGE E; HORSTHEMKE B
      CONSTITUTIONAL RB1-GENE MUTATIONS IN PATIENTS WITH ISOLATED UNILATERAL RETINOBLASTOMA

      American journal of human genetics
    53. MANCINI D; SINGH S; AINSWORTH P; RODENHISER D
      CONSTITUTIVELY METHYLATED CPG DINUCLEOTIDES AS MUTATION HOT-SPOTS IN THE RETINOBLASTOMA GENE (RB1)

      American journal of human genetics
    54. COWELL JK; CRAGG H
      CONSTITUTIONAL NONSENSE GERMLINE MUTATIONS IN THE RB1 GENE DETECTED IN PATIENTS WITH EARLY-ONSET UNILATERAL RETINOBLASTOMA

      European journal of cancer
    55. COWELL JK; BIA B; AKOULITCHEV A
      A NOVEL MUTATION IN THE PROMOTOR REGION IN A FAMILY WITH A MILD FORM OF RETINOBLASTOMA INDICATES THE LOCATION OF A NEW REGULATORY DOMAIN FOR THE RB1 GENE

      Oncogene
    56. NAROD SA
      GENETIC EPIDEMIOLOGY OF CHILDHOOD-CANCER

      Biochimica et biophysica acta, CR. Reviews on cancer
    57. EFREMOV IA; CHISTYAKOV DA; NOSIKOV VV
      POLYMERASE CHAIN-REACTION ANALYSIS OF ALLELE POLYMORPHISM OF 2 HYPERVARIABLE LOCI IN A MOSCOW RUSSIAN POPULATION-SAMPLE

      Molecular biology
    58. MURRAY TG; OBRIEN JM; STEEVES RA; SMITH BJ; ALBERT DM; CICCIARELLI N; MARKOE AM; TOMPKINS DT; WINDLE JJ
      RADIATION-THERAPY AND FERROMAGNETIC HYPERTHERMIA IN THE TREATMENT OF MURINE TRANSGENIC RETINOBLASTOMA

      Archives of ophthalmology
    59. MURRAY TG
      LOCAL CARBOPLATIN AND RADIATION-THERAPY IN THE TREATMENT OF MURINE TRANSGENIC RETINOBLASTOMA

      Archives of ophthalmology
    60. KATO MV; SHIMIZU T; NAGAYOSHI M; KANEKO A; SASAKI MS; IKAWA Y
      GENOMIC IMPRINTING OF THE HUMAN SEROTONIN-RECEPTOR (HTR2) GENE INVOLVED IN DEVELOPMENT OF RETINOBLASTOMA

      American journal of human genetics
    61. NOORANI HZ; KHAN HN; GALLIE BL; DETSKY AS
      COST COMPARISON OF MOLECULAR VERSUS CONVENTIONAL SCREENING OF RELATIVES AT RISK FOR RETINOBLASTOMA

      American journal of human genetics
    62. BIA B; COWELL JK
      INDEPENDENT CONSTITUTIONAL GERMLINE MUTATIONS OCCURRING IN THE RB1 GENE IN COUSINS WITH BILATERAL RETINOBLASTOMA

      Oncogene
    63. FINELLI DA; SHURIN SB; BARDENSTEIN DS
      TRILATERAL RETINOBLASTOMA - 2 VARIATIONS

      American journal of neuroradiology
    64. BALMER A; MUNIER F; GAILLOUD C; UFFER S; VANMELLE G
      NEW TUMORS IN HEREDITARY RETINOBLASTOMA

      Klinische Monatsblatter fur Augenheilkunde
    65. SZIJAN I; LOHMANN DR; PARMA DL; BRANDT B; HORSTHEMKE B
      IDENTIFICATION OF RB1 GERMLINE MUTATIONS IN ARGENTINEAN FAMILIES WITHSPORADIC BILATERAL RETINOBLASTOMA

      Journal of Medical Genetics
    66. MUNIER FL; ARABIEN L; FLODMAN P; SPENCE MA; PESCIA G; RUTZ HP; MURPHREE AL
      PUTATIVE NON-MENDELIAN TRANSMISSION OF RETINOBLASTOMA IN MALES - A PHENOTYPIC SEGREGATION ANALYSIS OF 150 PEDIGREES

      Human genetics
    67. GREGER V; DEBUS N; LOHMANN D; HOPPING W; PASSARGE E; HORSTHEMKE B
      FREQUENCY AND PARENTAL ORIGIN OF HYPERMETHYLATED RB1 ALLELES IN RETINOBLASTOMA

      Human genetics
    68. KATO MV; ISHIZAKI K; SHIMIZU T; EJIMA Y; TANOOKA H; TAKAYAMA J; KANEKO A; TOGUCHIDA J; SASAKI MS
      PARENTAL ORIGIN OF GERM-LINE AND SOMATIC - MUTATIONS IN THE RETINOBLASTOMA GENE

      Human genetics
    69. COWELL JK; JAJU R; KEMPSKI H
      ISOLATION AND CHARACTERIZATION OF A PANEL OF COSMIDS WHICH ALLOWS UNEQUIVOCAL IDENTIFICATION OF CHROMOSOME DELETIONS INVOLVING THE RB1 GENEUSING FLUORESCENCE IN-SITU HYBRIDIZATION

      Journal of Medical Genetics
    70. STAHL A; LEVY N; WADZYNSKA T; SUSSAN JM; JOURDANFONTA D; SARACCO JB
      THE GENETICS OF RETINOBLASTOMA

      Annales de genetique
    71. TOGUCHIDA J; MCGEE TL; PATERSON JC; EAGLE JR; TUCKER S; YANDELL DW; DRYJA TP
      COMPLETE GENOMIC SEQUENCE OF THE HUMAN RETINOBLASTOMA SUSCEPTIBILITY GENE

      Genomics
    72. MULLER H
      GENETIC-COUNSELING AND INTERDISCIPLINARY CARE IN RETINOBLASTOMA

      Klinische Monatsblatter fur Augenheilkunde
    73. ONADIM Z; HOGG A; COWELL JK
      MECHANISMS OF ONCOGENESIS IN PATIENTS WITH FAMILIAL RETINOBLASTOMA

      British Journal of Cancer
    74. GOODRICH DW; LEE WH
      MOLECULAR CHARACTERIZATION OF THE RETINOBLASTOMA SUSCEPTIBILITY GENE

      Biochimica et biophysica acta
    75. MUNIER FL; WANG MX; SPENCE MA; THONNEY F; BALMER A; PESCIA G; DONOSO LA; MURPHREE AL
      PSEUDO LOW PENETRANCE IN RETINOBLASTOMA - FORTUITOUS FAMILIAL AGGREGATION OF SPORADIC CASES CAUSED BY INDEPENDENTLY DERIVED MUTATIONS IN 2 LARGE PEDIGREES

      Archives of ophthalmology
    76. DRYJA TP; RAPAPORT J; MCGEE TL; NORK TM; SCHWARTZ TL
      MOLECULAR ETIOLOGY OF LOW-PENETRANCE RETINOBLASTOMA IN 2 PEDIGREES

      American journal of human genetics


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Documento generato il 25/05/20 alle ore 06:55:19