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    1. Bhatnagar, D; Mackness, MI; Durrington, PN
      Treatment of mixed hyperlipidaemia using a combination of omega-3 fatty acids and HMG CoA reductase inhibitor

      EUROPEAN HEART JOURNAL SUPPLEMENTS
    2. Kim, DS; Choi, SI; Lee, HS; Park, JK; Yi, HK
      Determination of human angiotensin converting enzyme (ACE) gene polymorphisms in erectile dysfunction: Frequency differences of ACE gene polymorphisms according to the method of analysis

      CLINICAL CHEMISTRY AND LABORATORY MEDICINE
    3. Ashley, GA; Shabbeer, J; Yasuda, M; Eng, CM; Desnick, RJ
      Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype

      JOURNAL OF HUMAN GENETICS
    4. Ma, SK; Au, WY; Chan, AYY; Chan, LC
      Clinical phenotype of triplicated alpha-globin genes and heterozygosity for beta(0)-thalassemia in Chinese subjects

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    5. Blau, N; Bonafe, L; Thony, B
      Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: Diagnosis and genetics of DOPA-responsive dystonia and sepiapterin reductase deficiency

      MOLECULAR GENETICS AND METABOLISM
    6. Lee, MH; Gordon, D; Ott, J; Lu, KM; Ose, L; Miettinen, T; Gylling, H; Stalenhoef, AF; Pandya, A; Hidaka, H; Brewer, B; Kojima, H; Sakuma, N; Pegoraro, R; Salen, G; Patel, SB
      Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communities

      EUROPEAN JOURNAL OF HUMAN GENETICS
    7. Pialek, J; Hauffe, HC; Rodriguez-Clark, KM; Searle, JB
      Raciation and speciation in house mice from the Alps: the role of chromosomes

      MOLECULAR ECOLOGY
    8. Tercanli, S; Miny, P; Siebert, MS; Hosli, I; Surbek, DV; Holzgreve, W
      Fanconi anemia associated with increased nuchal translucency detected by first-trimester ultrasound

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    9. Olsson, H
      A hypothesis about tumour development and the clinical features of hereditary breast cancers

      EUROPEAN JOURNAL OF CANCER
    10. Lee, MH; Lu, KM; Patel, SB
      Genetic basis of sitosterolemia

      CURRENT OPINION IN LIPIDOLOGY
    11. Moriai, S; Daimon, M; Susa, S; Kurimura, M; Kawanami, T; Kurita, K; Kato, T
      Hypoceruloplasminemia in neurological diseases

      INTERNAL MEDICINE
    12. Tzetis, M; Kanavakis, E; Tsezou, A; Ladis, V; Pateraki, E; Georgakopoulou, T; Kavazarakis, E; Maragoudaki, E; Karpathios, T; Kitsiou-Tzeli, S
      Gilbert syndrome associated with beta-thalassemia

      PEDIATRIC HEMATOLOGY AND ONCOLOGY
    13. Recht, A; Edge, SB; Solin, LJ; Robinson, DS; Estabrook, A; Fine, RE; Fleming, GF; Formenti, S; Hudis, C; Kirshner, JJ; Krause, DA; Kuske, RR; Langer, AS; Sledge, GW; Whelan, TJ; Pfister, DG
      Postmastectomy radiotherapy: Clinical practice guidelines of the American Society of Clinical Oncology

      JOURNAL OF CLINICAL ONCOLOGY
    14. Traeger-Synodinos, J; Papassotiriou, I; Vrettou, C; Skarmoutsou, C; Stamoulakatou, A; Kanavakis, E
      Erythroid marrow activity and functional anemia in patients with the rare interaction of a single functional alpha-globin and beta-globin gene

      HAEMATOLOGICA
    15. Ohmichi, M; Ikegami, H; Kurachi, H; Node, K; Morishige, K; Nishio, Y; Adachi, K; Matumoto, K; Hayakawa, J; Tasaka, K; Azuma, C; Murata, Y
      Effects of bezafibrate and simvastatin on plasma lipoproteins in hypercholesterolemia resistant to hormone replacement therapy

      MATURITAS
    16. Efremov, GD
      Forty-four years (1955-1999) devoted to hemoglobin research: Titus H. J. Huisman (1923-1999) - In memoriam

      HEMOGLOBIN
    17. Ristaldi, MS; Casula, S; Porcu, S; Cao, A
      Normal delta globin gene sequence in carrier of the silent-101 (C-T) beta-thalassemia mutation with normal HbA2 level

      AMERICAN JOURNAL OF HEMATOLOGY
    18. Yaxley, JL; Jablonski, W; Reid, JB
      Leaf and flower development in pea (Pisum sativum L.): Mutants cochleata and unifoliata

      ANNALS OF BOTANY
    19. Stumm, M; Neubauer, S; Keindorff, S; Wegner, RD; Wieacker, P; Sauer, R
      High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome

      CYTOGENETICS AND CELL GENETICS
    20. Smetanina, NS; Kazanetz, EG; Tokarev, YN
      Correlation between genotype and clinical features of beta-thalassemia.

      GEMATOLOGIYA I TRANSFUZIOLOGIYA
    21. Cassanelli, S; Pignatti, E; Montosi, G; Garuti, C; Mariano, M; Campioli, D; Carbonieri, A; Baldini, E; Pietrangelo, A
      Frequency and biochemical expression of C282Y/H63D hemochromatosis (HFE) gene mutations in the healthy adult population in Italy

      JOURNAL OF HEPATOLOGY
    22. Lu, YJ; Condie, A; Bennett, JD; Fry, MJ; Yuille, MR; Shipley, J
      Disruption of the ATM gene in breast cancer

      CANCER GENETICS AND CYTOGENETICS
    23. Rivero, MB; Olicio, R; Lima, CR; Bonvicino, CR; Moreira, MAM; Llerena, JC; Seuanez, HN
      Molecular analysis of HPRT1(+) somatic cell hybrids derived from a carrierof an HPRT1 mutation responsible for Lesch-Nyhan syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    24. Valdes-Flores, M; Kofman-Alfaro, SH; Jimenez-Vaca, AL; Cuevas-Covarrubias, SA
      Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis

      AMERICAN JOURNAL OF MEDICAL GENETICS
    25. Guttormsen, AB; Ueland, PM; Kruger, WD; Kim, CE; Ose, L; Folling, I; Refsum, H
      Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: Relationship between genotype and phenotype

      AMERICAN JOURNAL OF MEDICAL GENETICS
    26. Karabinis, ME; Larson, D; Barlow, C; Wynshaw-Boris, A; Moser, AR
      Heterozygosity for a mutation in Brca1 or Atm does not increase susceptibility to ENU-induced mammary tumors in Apc(Min)/+ mice

      CARCINOGENESIS
    27. Boice, JD
      Radiation and breast carcinogenesis

      MEDICAL AND PEDIATRIC ONCOLOGY
    28. Dahl, M; Nordestgaard, BG; Lange, P; Tybjaerg-Hansen, A
      Fifteen-year follow-up of pulmonary function in individuals heterozygous for the cystic fibrosis phenylalanine-508 deletion

      JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
    29. Bard, H; Peri, KG; Gagnon, C
      The biologic implications of a rare hemoglobin mutant that decreases oxygen affinity

      PEDIATRIC RESEARCH
    30. Frustaci, A; Chimenti, C; Ricci, R; Natale, L; Russo, MA; Pieroni, M; Eng, CM; Desnick, RJ
      Brief report: Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy.

      NEW ENGLAND JOURNAL OF MEDICINE
    31. MacDermot, KD; Holmes, A; Miners, AH
      Anderson-Fabry disease: clinical manifestations and impact of disease in acohort of 60 obligate carrier females

      JOURNAL OF MEDICAL GENETICS
    32. Bidau, CJ; Gimenez, MD; Palmer, CL; Searle, JB
      The effects of Robertsonian fusions on chiasma frequency and distribution in the house mouse (Mus musculus domesticus) from a hybrid zone in northernScotland

      HEREDITY
    33. Milam, AH; De Castro, EB; Smith, JE; Tang, WX; John, SK; Gorin, MB; Stone, EM; Aguirre, GD; Jacobson, SG
      Concentric retinitis pigmentosa: Clinicopathologic correlations

      EXPERIMENTAL EYE RESEARCH
    34. Marchand, E; Verellen-Dumoulin, C; Mairesse, M; Delaunois, L; Brancaleone, P; Rahier, JF; Vandenplas, O
      Frequency of cystic fibrosis transmembrane conductance regulator gene mutations and 5T allele in patients with allergic bronchopulmonary aspergillosis

      CHEST
    35. Altarescu, GM; Goldfarb, LG; Park, KY; Kaneski, C; Jeffries, N; Litvak, S; Nagle, JW; Schiffmann, R
      Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease

      CLINICAL GENETICS
    36. Somogyvari, F; Szolnoki, Z; Marki-Zay, J; Fodor, L
      Real-time PCR assay with fluorescent hybridization probes for exact and rapid genotyping of the angiotensin-converting enzyme gene insertion/deletionpolymorphism

      CLINICAL CHEMISTRY
    37. Bonafe, L; Thony, B; Leimbacher, W; Kierat, L; Blau, N
      Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts

      CLINICAL CHEMISTRY
    38. Mandelli, J; Wajner, A; Pires, R; Giugliani, R; Coelho, JC
      Detection of mucopolysaccharidosis type I heterozygotes on the basis of the biochemical properties of plasma alpha-L-iduronidase

      CLINICA CHIMICA ACTA
    39. Dork, T; Bendix, R; Bremer, M; Rades, D; Klopper, K; Nicke, M; Skawran, B; Hector, A; Yamini, P; Steinmann, D; Weise, S; Stuhrmann, M; Karstens, JH
      Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients

      CANCER RESEARCH
    40. Kashino, G; Kodama, S; Suzuki, K; Oshimura, M; Watanabe, M
      Preferential expression of an intact WRN gene in Werner syndrome cell lines in which a normal chromosome 8 has been introduced

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    41. Djuzenova, CS; Flentje, M
      Light scatter and DNA accessibility to propidium iodide of ataxia telangiectasia and Fanconi anemia cells

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    42. Nozaki, J; Dakeishi, M; Ohura, T; Inoue, K; Manabe, M; Wada, Y; Koizumi, A
      Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    43. Backus, RC; Ginzinger, DG; Excoffon, KJDA; Clee, SM; Hayden, MR; Eckel, RH; Hickman, MA; Rogers, QR
      Maternal expression of functional lipoprotein lipase and effects on body fat mass and body condition scores of mature cats with lipoprotein lipase deficiency

      AMERICAN JOURNAL OF VETERINARY RESEARCH
    44. An, SF; Osuntokun, O; Groves, M; Scaravilli, F
      Expression of CCR-5/CXCR-4 in spinal cord of patients with AIDS

      ACTA NEUROPATHOLOGICA
    45. Olsen, JH; Hahnemann, JM; Borresen-Dale, AL; Brondum-Nielsen, K; Hammarstrom, L; Kleinerman, R; Kaatriainen, H; Lonnqvist, T; Sankila, R; Seersholm, N; Tretli, S; Yuen, J; Boice, JD; Tucker, M
      Cancer in patients with ataxia-telangiectasia and in their relatives in the Nordic countries

      JOURNAL OF THE NATIONAL CANCER INSTITUTE
    46. Lourenco, LB; Recco-Pimentel, SM; Cardoso, AJ
      A second case of multivalent meiotic configurations in diploid species of Anura

      GENETICS AND MOLECULAR BIOLOGY
    47. Iga, M; Kimura, M; Ohura, T; Kikawa, Y; Yamaguchi, S
      Rapid, simplified and sensitive method for screening fructose-1,6-diphosphatase deficiency by analyzing urinary metabolites in urease/direct preparations and gas chromatography-mass spectrometry in the selected-ion monitoring mode

      JOURNAL OF CHROMATOGRAPHY B
    48. Sumi, S; Matsuura, T; Kidouchi, K; Togari, H; Kubota, M; Kitou, O; Mikami, H; Ohura, T; Matsuda, I; Wada, Y
      Detection of ornithine transcarbamylase deficiency heterozygotes by measuring of urinary uracil

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    49. Kreiss, Y; Barak, F; Baruch, RG; Levy-Lahad, E; Pras, E; Friedman, E
      The founder mutations in the BRCA1, BRCA2, and ATM genes in Moroccan Jewish women with breast cancer

      GENETIC TESTING
    50. Romiti, ML; Colognesi, C; Cancrini, C; Mas, A; Berrino, M; Salvatori, F; Orlandi, P; Jansson, M; Palomba, E; Plebani, A; Bertran, JM; Hernandez, M; de Martino, M; Amoroso, A; Tovo, PA; Rossi, P; Espanol, T; Scarlatti, G
      Prognostic value of a CCR5 defective allele in pediatric HIV-1 infection

      MOLECULAR MEDICINE
    51. Laake, K; Jansen, L; Hahnemann, JM; Brondum-Nielsen, K; Lonnqvist, T; Kaariainen, H; Sankila, R; Lahdesmaki, A; Hammarstrom, L; Yuen, J; Tretli, S; Heiberg, A; Olsen, JH; Tucker, M; Kleinerman, R; Borresen-Dale, AL
      Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia

      HUMAN MUTATION
    52. Shafman, TD; Levitz, S; Nixon, AJ; Gibans, LA; Nichols, KE; Bell, DW; Ishioka, C; Isselbacher, KJ; Gelman, R; Garber, J; Harris, JR; Haber, DA
      Prevalence of germline truncating mutations in ATM in women with a second breast cancer after radiation therapy for a contralateral tumor

      GENES CHROMOSOMES & CANCER
    53. Lu, GQ; Excoffon, KJDA; Wilson, JE; McManus, BM; Rogers, QR; Miao, L; Kastelein, JJP; Lewis, MES; Hayden, MR
      Phenotypic correction of feline lipoprotein lipase deficiency by adenoviral gene transfer

      HUMAN GENE THERAPY
    54. Coakley, RJ; Taggart, C; Canny, G; Greally, P; O'Neill, SJ; McElvaney, NG
      Altered intracellular pH regulation in neutrophils from patients with cystic fibrosis

      AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY
    55. Eastman, JW; Sherwin, JE; Wong, R; Liao, CL; Currier, RJ; Lorey, F; Cunningham, G
      Use of the phenylalanine : tyrosine ratio to test newborns for phenylketonuria in a large public health screening programme

      JOURNAL OF MEDICAL SCREENING
    56. Reclos, GJ; Hatzidakis, CJ; Schulpis, KH
      Glucose-6-phosphate dehydrogenase deficiency neonatal screening: preliminary evidence that a high percentage of partially deficient female neonates are missed during routine screening

      JOURNAL OF MEDICAL SCREENING
    57. Broeks, A; Russell, NS; Floore, AN; Urbanus, JHM; Dahler, EC; van't Veer, MB; Hagenbeek, A; Noordijk, EM; Crommelin, MA; van Leeuwen, FE; van't Veer, LJ
      Increased risk of breast cancer following irradiation for Hodgkin's disease is not a result of ATM germline mutations

      INTERNATIONAL JOURNAL OF RADIATION BIOLOGY
    58. Takeshita, T; Yang, X; Morimoto, K
      The ALDH2 genotype, alcohol intake, and liver-function biomarkers among Japanese male workers

      HUMAN GENETICS
    59. Zechner, R; Strauss, J; Frank, S; Wagner, E; Hofmann, W; Kratky, D; Hiden, M; Levak-Frank, S
      The role of lipoprotein lipase in adipose tissue development and metabolism

      INTERNATIONAL JOURNAL OF OBESITY
    60. Faraut, T; Mermet, MA; Demongeot, J; Cohen, O
      Cooperation of selection and meiotic mechanisms in the production of imbalances in reciprocal translocations

      CYTOGENETICS AND CELL GENETICS
    61. Drumea, KC; Levine, E; Bernstein, J; Shank, B; Green, S; Kaplan, E; Mandell, L; Cropley, J; Obropta, J; Braccia, I; Krupnik, A; Rosenstein, BS
      ATM heterozygosity and breast cancer: screening of 37 breast cancer patients for ATM mutations using a non-isotopic RNase cleavage-based

      BREAST CANCER RESEARCH AND TREATMENT
    62. Leiberman, E; Pesler, D; Parvari, R; Elbedour, K; Abdul-Latif, H; Brown, MR; Parks, JS; Carmi, R
      Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency

      AMERICAN JOURNAL OF MEDICAL GENETICS
    63. Jacobson, SG; Cideciyan, AV; Iannaccone, A; Weleber, RG; Fishman, GA; Maguire, AM; Affatigato, LM; Bennett, J; Pierce, EA; Danciger, M; Farber, DB; Stone, EM
      Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa

      INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
    64. Barbey, F; Lidove, O; Droz, D; Grunfeld, JP
      Fabry's disease: clinical aspects and therapeutic perspectives

      SCHWEIZERISCHE MEDIZINISCHE WOCHENSCHRIFT
    65. Wu, XH; Ranganathan, V; Weisman, DS; Heine, WF; Ciccone, DN; O'Neill, TB; Crick, KE; Pierce, KA; Lane, WS; Rathbum, G; Livingston, DM; Weaver, DT
      ATM phosphorylation of Nijmegen breakage syndrome protein is required in aDNA damage response

      NATURE
    66. Callen, A; Diener-West, M; Zeitlin, PL; Rubenstein, RC
      A simplified cyclic adenosine monophosphate-mediated sweat rate test for quantitative measure of cystic fibrosis transmembrane regulator (CFTR) function

      JOURNAL OF PEDIATRICS
    67. Bardhan, A; Sharma, T
      Meiosis and speciation: a study in a speciating Mus terricolor complex

      JOURNAL OF GENETICS
    68. Leung, GK; Veniant, MM; Kim, SK; Zlot, CH; Raabe, M; Bjorkegren, J; Neese, RA; Hellerstein, MK; Young, SG
      A deficiency of microsomal triglyceride transfer protein reduces apolipoprotein B secretion

      JOURNAL OF BIOLOGICAL CHEMISTRY
    69. Maillet, P; Chappuis, PO; Vaudan, G; Dobbie, Z; Muller, H; Hutter, P; Sappino, AP
      A polymorphism in the ATM gene modulates the penetrance of hereditary non-polyposis colorectal cancer

      INTERNATIONAL JOURNAL OF CANCER
    70. Banaszek, A; Fedyk, S; Szalaj, KA; Chetnicki, W
      A comparison of spermatogenesis in homozygotes, simple Robertsonian heterozygotes and complex heterozygotes of the common shrew (Sorex araneus L.)

      HEREDITY
    71. Morgan-Richards, M
      Robertsonian translocations and B chromosomes in the Wellington tree weta,Hemideina crassidens (Orthoptera : Anostostomatidae)

      HEREDITAS
    72. Bhavnani, M; Lloyd, D; Bhattacharyya, A; Marples, J; Elton, P; Worwood, M
      Screening for genetic haemochromatosis in blood samples with raised alanine aminotransferase

      GUT
    73. Ganne-Carrie, N; Christidis, C; Chastang, C; Ziol, M; Chapel, F; Imbert-Bismut, F; Trinchet, JC; Guettier, C; Beaugrand, M
      Liver iron is predictive of death in alcoholic cirrhosis: a multivariate study of 229 consecutive patients with alcoholic and/or hepatitis C virus cirrhosis: a prospective follow up study

      GUT
    74. Gorlov, IP; Tsurusaki, N
      Staggered clines in a hybrid zone between two chromosome races of the harvestman Gagrellopsis nodulifera (Arachnida : Opiliones)

      EVOLUTION
    75. Lugowska, A; Czartoryska, B; Tylki-Szymanska, A; Bisko, M; Zimowski, JG; Berger, J; Molzer, B
      Prevalence of arylsulfatase A pseudodeficiency allele in metachromatic leukodystrophy patients from Poland

      EUROPEAN NEUROLOGY
    76. Knutson, VP
      The release of lipoprotein lipase from 3T3-L1 adipocytes is regulated by microvessel endothelial cells in an insulin-dependent manner

      ENDOCRINOLOGY
    77. da Silva, LCS; Carvalho, TS; da Silva, FB; Pires, RF; Giugliani, R; Pereira, MLS
      Aspartame loading test in PKU heterozygous individuals bearing severe and moderate mutations

      CLINICAL GENETICS
    78. Chen, JD; Lindblom, A
      Germline mutation screening of the STK11/LKB1 gene in familial breast cancer with LOH on 19p

      CLINICAL GENETICS
    79. Bertolini, S; Simone, ML; Pes, GM; Ghisellini, M; Rolleri, M; Bellocchio, A; Elicio, N; Masturzo, P; Calandra, S
      Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr(302) > Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPLOlbia)

      CLINICAL GENETICS
    80. Laake, K; Vu, P; Andersen, TI; Erikstein, B; Karesen, R; Lonning, PE; Skovlund, E; Borresen-Dale, AL
      Screening breast cancer patients for Norwegian ATM mutations

      BRITISH JOURNAL OF CANCER
    81. Christensen, K; Kristiansen, M; Hagen-Larsen, H; Skytthe, A; Bathum, L; Jeune, B; Andersen-Ranberg, K; Vaupel, JW; Orstavik, KH
      X-linked genetic factors regulate hematopoietic stem-cell kinetics in females

      BLOOD
    82. Swift, M; Swift, RG
      Psychiatric disorders and mutations at the Wolfram syndrome locus

      BIOLOGICAL PSYCHIATRY
    83. Su, Y; Swift, M
      Mortality rates among carriers of ataxia-telangiectasia mutant alleles

      ANNALS OF INTERNAL MEDICINE
    84. Barton, JC; Bertoli, LF
      Transfusion iron overload in adults with acute leukemia: Manifestations and therapy

      AMERICAN JOURNAL OF THE MEDICAL SCIENCES
    85. Broeks, A; Urbanus, JHM; Floore, AN; Dahler, EC; Klijn, JGM; Rutgers, EJT; Devilee, P; Russell, NS; van Leeuwen, FE; van't Veer, LJ
      ATM-heterozygous germline mutations contribute to breast cancer-susceptibility

      AMERICAN JOURNAL OF HUMAN GENETICS
    86. Vissers, MN; Zock, PL; Meijer, GW; Katan, MB
      Effect of plant sterols from rice bran oil and triterpene alcohols from sheanut oil on serum lipoprotein concentrations in humans

      AMERICAN JOURNAL OF CLINICAL NUTRITION
    87. Banaszek, A; Fedyk, S; Szalaj, KA; Chetnicki, W
      Reproductive performance in two hybrid zones between chromosome races of the common shrew Sorex araneus in Poland

      ACTA THERIOLOGICA
    88. Haider, MZ; Shaltout, A; Alsaeid, K; Al-Khawari, M; Dorman, JS
      High frequency of HLA-DQB1 non-Asp(57) alleles in Kuwaiti children with insulin-dependent diabetes mellitus

      HUMAN HEREDITY
    89. Martin, AM; Weber, BL
      Genetic and hormonal risk factors in breast cancer

      JOURNAL OF THE NATIONAL CANCER INSTITUTE
    90. Andersson, HC; Lewensohn, R; Mansson-Brahme, E
      Chromosomal sensitivity to X-ray irradiation during the G(2) phase in lymphocytes of patients with hereditary cutaneous malignant melanoma as compared to healthy controls

      MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
    91. Hall, J; Angele, S
      Radiation, DNA damage and cancer

      MOLECULAR MEDICINE TODAY
    92. Uhrhammer, N; Fritz, E; Boyden, L; Meyn, MS
      Human fibroblasts transfected with an ATM antisense vector respond abnormally to ionizing radiation

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    93. Gatti, RA; Tward, A; Concannon, P
      Cancer risk in ATM heterozygotes: A model of phenotypic and mechanistic differences between missense and truncating mutations

      MOLECULAR GENETICS AND METABOLISM
    94. Mallolas, J; Mila, M; Lambruschini, N; Cambra, FJ; Campistol, J; Vilaseca, H
      Biochemical phenotype and its relationship with genotype in hyperphenylalaninemia heterozygotes

      MOLECULAR GENETICS AND METABOLISM
    95. Barton, JC; Sawada-Hirai, R; Rothenberg, BE; Acton, RT
      Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands

      BLOOD CELLS MOLECULES AND DISEASES
    96. Welty, FK; Lichtenstein, AH; Barrett, PHR; Dolnikowski, GG; Schaefer, EJ
      Human apolipoprotein (apo) B-48 and apoB-100 kinetics with stable isotopes

      ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
    97. Izatt, L; Greenman, J; Hodgson, S; Ellis, D; Watts, S; Scott, G; Jacobs, C; Liebmann, R; Zvelebil, MJ; Mathew, C; Solomon, E
      Identification of germline missense mutations and rare allelic variants inthe ATM gene in early-onset breast cancer

      GENES CHROMOSOMES & CANCER
    98. Sandford, AJ; Weir, TD; Spinelli, JJ; Pare, PD
      Z and S mutations of the alpha(1)-antitrypsin gene and the risk of chronicobstructive pulmonary disease

      AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY
    99. Sandoval, N; Platzer, M; Rosenthal, A; Dork, T; Bendix, R; Skawran, B; Stuhrmann, M; Wegner, RD; Sperling, K; Banin, S; Shiloh, Y; Baumer, A; Bernthaler, U; Sennefelder, H; Brohm, M; Weber, BHF; Schindler, D
      Characterization of ATM gene mutations in 66 ataxia telangiectasia families

      HUMAN MOLECULAR GENETICS
    100. Witko-Sarsat, V; Sermet-Gaudelus, I; Lenoir, G; Descamps-Latscha, B
      Inflammation and CFTR: might neutrophils be the key in cystic fibrosis?

      MEDIATORS OF INFLAMMATION


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Documento generato il 25/10/20 alle ore 18:19:59