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    1. Street, VA; Goldy, JD; Golden, AS; Tempel, BL; Bird, TD; Chance, PF
      Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies

      AMERICAN JOURNAL OF HUMAN GENETICS
    2. Gupta, A; Tenenhouse, HS; Hoag, HM; Wang, D; Khadeer, MA; Namba, N; Feng, X; Hruska, KA
      Identification of the type IINa+-Pi cotransporter (Npt2) in the osteoclastand the skeletal phenotype of Npt2-/- mice

      BONE
    3. Jenkins, JF; Prows, C; Dimond, E; Monsen, R; Williams, J
      Recommendations for educating nurses in genetics

      JOURNAL OF PROFESSIONAL NURSING
    4. Uomo, G; Talamini, G; Rabitti, PG
      Antioxidant treatment in hereditary pancreatitis. A pilot study on three young patients

      DIGESTIVE AND LIVER DISEASE
    5. Mullerad, M; Falik, T; Madeb, R; Nativ, O
      Hereditary prostate cancer - the search for the gene

      ISRAEL MEDICAL ASSOCIATION JOURNAL
    6. Greene, RA; Jenkins, TM; Wapner, R
      The new genetic era in reproductive medicine: Possibilities, probabilitiesand problems

      INTERNATIONAL JOURNAL OF FERTILITY AND WOMENS MEDICINE
    7. Hojo, H; Aoyama, H; Shimizu, N; Kaneda, M; Yamamoto, E; Teramoto, S
      Abnormalities of gonadotrophs in the adenohypophysis of infertile male PD rats

      COMPARATIVE MEDICINE
    8. Verstreken, M; Declau, F; Wuyts, FL; D'Haese, P; Van Camp, G; Fransen, E; Van den Hauwe, L; Buyle, S; Smets, REM; Feenstra, L; Van der Stappen, A; Van de Heyning, PH
      Hereditary otovestibular dysfunction and Meniere's disease in a large Belgian family is caused by a missense mutation in the COCH gene

      OTOLOGY & NEUROTOLOGY
    9. Linthicum, FH
      Scheibe (cochleosaccular) dysplasia

      OTOLOGY & NEUROTOLOGY
    10. Klein, AP; Hruban, RH; Brune, KA; Petersen, GM; Goggins, M
      Familial pancreatic cancer

      CANCER JOURNAL
    11. Jaeken, J; Matthijs, G
      Congenital disorders of glycosylation

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    12. Hurley, KE; Miller, SM; Costalas, JW; Gillespie, D; Daly, MB
      Anxiety/uncertainty reduction as a motivation for interest in prophylacticoophorectomy in women with a family history of ovarian cancer

      JOURNAL OF WOMENS HEALTH & GENDER-BASED MEDICINE
    13. Yang, YM; Pace, B
      Pharmacologic induction of fetal hemoglobin synthesis: Cellular and molecular mechanisms

      PEDIATRIC PATHOLOGY & MOLECULAR MEDICINE
    14. Lalloo, F; Evans, G
      Molecular genetics and endometrial cancer

      BEST PRACTICE & RESEARCH IN CLINICAL OBSTETRICS & GYNAECOLOGY
    15. Craanen, ME; Kuipers, EJ
      Advantages and disadvantages of population screening for cancer and surveillance of at-risk groups

      BEST PRACTICE & RESEARCH IN CLINICAL GASTROENTEROLOGY
    16. Friess, H; Holzinger, F; Liao, Q; Buchler, MW
      Surveillance of pre-malignant disease of the pancreatico-biliary system

      BEST PRACTICE & RESEARCH IN CLINICAL GASTROENTEROLOGY
    17. Kronborg, O
      Colonic screening and surveillance

      BEST PRACTICE & RESEARCH IN CLINICAL GASTROENTEROLOGY
    18. Gordon, FH; Watkinson, A; Hodgson, H
      Vascular malformations of the gastrointestinal tract

      BEST PRACTICE & RESEARCH IN CLINICAL GASTROENTEROLOGY
    19. Van Gossum, A
      Obscure digestive bleeding

      BEST PRACTICE & RESEARCH IN CLINICAL GASTROENTEROLOGY
    20. Bowen, B; Hawk, JJ; Sibunka, S; Hovick, S; Weiler, JM
      A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations

      CLINICAL IMMUNOLOGY
    21. Anderson, GJ
      Ironing out disease: Inherited disorders of iron homeostasis

      IUBMB LIFE
    22. Karkkainen, MJ; Jussila, L; Ferrell, RE; Finegold, DN; Alitalo, K
      Molecular regulation of lymphangiogenesis and targets for tissue oedema

      TRENDS IN MOLECULAR MEDICINE
    23. Murphy, MP
      Development of lipophilic cations as therapies for disorders due to mitochondrial dysfunction

      EXPERT OPINION ON BIOLOGICAL THERAPY
    24. Ostrer, H
      A genetic profile of contemporary Jewish populations

      NATURE REVIEWS GENETICS
    25. Morrell, NW; Wilkins, MR
      Genetic and molecular mechanisms of pulmonary hypertension

      CLINICAL MEDICINE
    26. Ahman, AK; Jonsson, BA; Damber, JE; Bergh, A; Gronberg, H
      Low frequency of microsatellite instability in hereditary prostate cancer

      BJU INTERNATIONAL
    27. Crawley, E; Kon, S; Woo, P
      Hereditary predisposition to low interleukin-10 production in children with extended oligoarticular juvenile idiopathic arthritis

      RHEUMATOLOGY
    28. Stewart, SF; Day, CP
      Liver disorder and the HFE locus

      QJM-MONTHLY JOURNAL OF THE ASSOCIATION OF PHYSICIANS
    29. Miyajima, H; Adachi, J; Kohno, S; Takahashi, Y; Ueno, Y; Naito, T
      Increased oxysterols associated with iron accumulation in the brains and visceral organs of acaeruloplasminaemia patients

      QJM-MONTHLY JOURNAL OF THE ASSOCIATION OF PHYSICIANS
    30. Cavaco, BM; Barros, L; Pannett, AAJ; Ruas, L; Carvalheiro, M; Ruas, MMA; Krausz, T; Santos, MA; Sobrinho, LG; Leite, V; Thakker, RV
      The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred

      QJM-MONTHLY JOURNAL OF THE ASSOCIATION OF PHYSICIANS
    31. Randall, J; Butow, P; Kirk, J; Tucker, K
      Psychological impact of genetic counselling and testing in women previously diagnosed with breast cancer

      INTERNAL MEDICINE JOURNAL
    32. Bassett, ML
      Haemochromatosis: iron still matters

      INTERNAL MEDICINE JOURNAL
    33. Yapp, TR; Eijkelkamp, EJ; Powell, LW
      Population screening for HFE-associated haemochromatosis: should we have to pay for our genes?

      INTERNAL MEDICINE JOURNAL
    34. Wingen, M; Gunther, RW
      Transcatheter coil embolisation of pulmonary arteriovenous malformations

      ROFO-FORTSCHRITTE AUF DEM GEBIET DER RONTGENSTRAHLEN UND DER BILDGEBENDEN VERFAHREN
    35. Hoffmann, W; Oberheitmann, B; Frentzel-Beyme, R
      "Host factors" - evolution of concepts of individual sensitivity and susceptibility

      INTERNATIONAL JOURNAL OF HYGIENE AND ENVIRONMENTAL HEALTH
    36. Rotchell, JM; Ulnal, E; Van Beneden, RJ; Ostrander, GK
      Retinoblastoma gene mutations in chemically induced liver tumor samples ofJapanese medaka (Oryzias latipes).

      MARINE BIOTECHNOLOGY
    37. Fujiki, K; Nakayasu, K; Kanai, A
      Corneal dystrophies in Japan

      JOURNAL OF HUMAN GENETICS
    38. Ishikawa, Y; Tajima, T; Nakae, J; Nagashima, T; Satoh, K; Okuhara, K; Fujieda, K
      Two mutations of the Gs alpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia

      JOURNAL OF HUMAN GENETICS
    39. Kaneko, K; Nagasaki, Y; Furukawa, T; Mizutamari, H; Sato, A; Masamune, A; Shimosegawa, T; Horii, A
      Analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene mutations in Japanese patients with chronic pancreatitis

      JOURNAL OF HUMAN GENETICS
    40. Finnila, S; Majamaa, K
      Phylogenetic analysis of mtDNA haplogroup TJ in a Finnish population

      JOURNAL OF HUMAN GENETICS
    41. Asaka, T; Ikeuchi, K; Okino, S; Takizawa, Y; Satake, R; Nitta, E; Komai, K; Endo, K; Higuchi, S; Oyake, T; Yoshimura, T; Suenaga, A; Uyama, E; Saito, T; Konagaya, M; Sunohara, N; Namba, R; Takada, H; Honke, K; Nishina, M; Tanaka, H; Shinagawa, M; Tanaka, K; Matsushima, A; Tsuji, S; Takamori, M
      Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy)

      JOURNAL OF HUMAN GENETICS
    42. Enns, CA
      Pumping iron: the strange partnership of the hemochromatosis protein, a class I MHC homolog, with the transferrin receptor

      TRAFFIC
    43. Oguro, K; Aiba, H; Hojo, H
      Different responses to auditory and somaesthetic stimulation in patients with an excessive startle: a report of pediatric experience

      CLINICAL NEUROPHYSIOLOGY
    44. Reiten, I; Van den Bergh, M
      Grothendieck groups and tilting objects

      ALGEBRAS AND REPRESENTATION THEORY
    45. Jacobi, FK; Meyer, J; Pusch, CM; Wissinger, B
      Quantitation of heteroplasmy in mitochondrial DNA mutations by primer extension using Vent(R)(R)(exo-) DNA polymerase and RFLP analysis

      MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
    46. De Freitas, JM; Meneghini, R
      Iron and its sensitive balance in the cell

      MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
    47. Brown, M
      Race, science and the construction of native criminality in colonial India

      THEORETICAL CRIMINOLOGY
    48. Finsterer, J; Lubec, D; Samec, P
      Generalised spinal cord atrophy, Chiari-I malformation, and syringomyelia

      SPINAL CORD
    49. Aisen, P; Enns, C; Wessling-Resnick, M
      Chemistry and biology of eukaryotic iron metabolism

      INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
    50. Nielsen, JE; Jennum, P; Fenger, K; Sorensen, SA; Fuglsang-Frederiksen, A
      Increased intracortical facilitation in patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p

      EUROPEAN JOURNAL OF NEUROLOGY
    51. Dominguez, DI; De Strooper, B; Annaert, W
      Secretases as therapeutic targets for the treatment of Alzheimer's disease

      AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
    52. Jonsen, E; Suhr, OB; Tashima, K; Athlin, E
      Early liver transplantation is essential for familial amyloidotic polyneuropathy patients' quality of life

      AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
    53. Jung, CG; Miyamoto, T; Tsumagari, T; Agui, T
      Genetic association between low expression phenotype of CD62L (L-selectin)in peripheral CD4(+) T cells and the thid (T-helper immunodeficiency) phenotype in the LEC rat

      EXPERIMENTAL ANIMALS
    54. Kimura, T; Ikeda, H; Akaba, K; Guldberg, P; Guttler, F; Maki, K; Aikawa, S; Hayasaka, K
      Mutation analysis of phenylketonuria in Yamagata prefecture, Japan

      PEDIATRICS INTERNATIONAL
    55. Chun, KJ; Hubbard, RP
      Constitutive model of tendon responses to multiple cyclic demands (II) - Theory and comparison

      KSME INTERNATIONAL JOURNAL
    56. Basin, MV; Garcia, MAA
      Optimal control in Ito-Volterra systems

      DYNAMICS OF CONTINUOUS DISCRETE AND IMPULSIVE SYSTEMS-SERIES B-APPLICATIONS & ALGORITHMS
    57. Hoozemans, JJM; Rozemuller, AJM; Veerhuis, R; Eikelenboom, P
      Immunological aspects of Alzheimer's disease - Therapeutic implications

      BIODRUGS
    58. Niiyama, S; Freyschmidt-Paul, P; Happle, R; Hoffmann, R
      Guess what! Hypotrichosis congenita of Marie Unna

      EUROPEAN JOURNAL OF DERMATOLOGY
    59. Huang, JH; Soliman, I
      Anaesthetic management for a patient with Dejerine-Sottas disease and asthma

      PAEDIATRIC ANAESTHESIA
    60. Jorquera, F; Dominguez, A; Diaz-Golpe, V; Espinel, J; Munoz, F; Herrera, A; Fernandez-Gundin, MJ; Vivas, S; Olcoz, JL
      C282Y and H63D mutations of the haemochromatosis gene in patients with iron overload

      REVISTA ESPANOLA DE ENFERMEDADES DIGESTIVAS
    61. Gradilla, PR; Martinez, AV; Arquero, MF; Garcia-Agundez, JA; Fernandez, FAG; Rodriguez, JB; Diaz-Rubio, M; de la Concha, EG; Quesada, JML
      C282Y and H63D mutations of HFE gene in patients with advanced alcoholic liver disease

      REVISTA ESPANOLA DE ENFERMEDADES DIGESTIVAS
    62. Hamed, RMA; Shomaf, M
      Congenital nephrotic syndrome: a clinico-pathologic study of thirty children

      JOURNAL OF NEPHROLOGY
    63. Barton, JC; Acton, RT
      Inheritance of two HFE mutations in African Americans: Cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency

      GENETICS IN MEDICINE
    64. Brown, AS; Gwinn, M; Cogswell, ME; Khoury, MJ
      Hemochromatosis-associated morbidity in the United States: An analysis of the National Hospital Discharge Survey, 1979-1997

      GENETICS IN MEDICINE
    65. Velicer, CM; Taplin, S
      Genetic testing for breast cancer: Where are health care providers in the decision process?

      GENETICS IN MEDICINE
    66. Culver, JO; Hull, JL; Dunne, DFB; Burke, W
      Oncologists' opinions on genetic testing for breast and ovarian cancer

      GENETICS IN MEDICINE
    67. 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
    68. Takatani, T; Takaoka, N; Tatsumi, M; Kawamoto, H; Okuno, Y; Morita, K; Masutani, T; Murakawa, K; Okamoto, Y
      A novel missense mutation in human lactate dehydrogenase B-subunit gene

      MOLECULAR GENETICS AND METABOLISM
    69. Gomez-Zaera, M; Strom, TM; Rodriguez, B; Estivill, X; Meitinger, T; Nunes, V
      Presence of a major WFS1 mutation in Spanish wolfram syndrome pedigrees

      MOLECULAR GENETICS AND METABOLISM
    70. Maio, M; Altomonte, M; Calabro, L; Fonsatti, E
      Bioimmunotherapeutic targets on angiogenetic blood vessels in solid malignangies

      FRONTIERS IN BIOSCIENCE
    71. Russo, PA; Mitchell, GA; Tanguay, RM
      Tyrosinemia: A review

      PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
    72. Power, TE; Adams, PC
      Psychosocial impact of C282Y mutation testing for hemochromatosis

      GENETIC TESTING
    73. Byrnes, V; Ryan, E; Barrett, S; Kenny, P; Mayne, P; Crowe, J
      Genetic hemochromatosis, a Celtic disease: Is it now time for population screening?

      GENETIC TESTING
    74. Arver, B; Borg, A; Lindblom, A
      First BRCA1 and BRCA2 gene testing implemented in the health care system of Stockholm

      GENETIC TESTING
    75. Inoue, K; Dewar, K; Katsanis, N; Reiter, LT; Lander, ES; Devon, KL; Wyman, DW; Lupski, JR; Birren, B
      The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes

      GENOME RESEARCH
    76. Medintz, I; Wong, WW; Berti, L; Shiow, L; Tom, J; Scherer, J; Sensabaugh, G; Mathies, RA
      High-performance multiplex SNP analysis of three hemochromatosis-related mutations with capillary array electrophoresis microplates

      GENOME RESEARCH
    77. Penalva, MA
      A fungal perspective on human inborn errors of metabolism: Alkaptonuria and beyond

      FUNGAL GENETICS AND BIOLOGY
    78. McCauliffe, DP
      Cutaneous lupus erythematosus

      SEMINARS IN CUTANEOUS MEDICINE AND SURGERY
    79. Wallace, DC
      Mitochondrial defects in neurodegenerative disease

      MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS
    80. Papanikolaou, G; Politou, M; Roetto, A; Bosio, S; Sakelaropoulos, N; Camaschella, C; Loukopoulos, D
      Linkage to chromosome 1q in Greek families with juvenile hemochromatosis

      BLOOD CELLS MOLECULES AND DISEASES
    81. Zanella, A; Bianchi, P; Iurlo, A; Boschetti, C; Taioli, E; Vercellati, C; Zappa, M; Fermo, E; Tavazzi, D; Sampietro, M
      Iron status and HFE genotype in erythrocyte pyruvate kinase deficiency: Study of Italian cases

      BLOOD CELLS MOLECULES AND DISEASES
    82. Reinhardt, D; Witt, O; Miosge, N; Herken, R; Pekrun, A
      Increase in band 3 density and aggregation in hereditary spherocytosis

      BLOOD CELLS MOLECULES AND DISEASES
    83. Reinhardt, D; Witt, O; Miosge, N; Herken, R; Pekrun, A
      Increase in band 3 density and aggregation in hereditary spherocytosis

      BLOOD CELLS MOLECULES AND DISEASES
    84. Fargion, S; Stazi, MA; Fracanzani, AL; Mattioli, M; Sampietro, M; Tavazzi, D; Bertelli, C; Patriarca, V; Mariani, C; Fiorelli, G
      Mutations in the HFE gene and their interaction with exogenous risk factors in hepatocellular carcinoma

      BLOOD CELLS MOLECULES AND DISEASES
    85. Sachot, S; Moirand, R; Jouanolle, AM; Mosser, J; Fergelot, P; Deugnier, Y; Brissot, P; le Gall, JY; David, V
      Low penetrant hemochromatosis phenotype in eight families: No evidence of modifiers in the MHC region

      BLOOD CELLS MOLECULES AND DISEASES
    86. Lucotte, G
      Frequency analysis and allele map in favor of the Celtic origin of the C282Y mutation of hemochromatosis

      BLOOD CELLS MOLECULES AND DISEASES
    87. Sanchez, M; Bruguera, M; Rodes, J; Oliva, R
      Complete characterization of the 3 ' region of the human and mouse hereditary hemochromatosis HFE gene and detection of novel splicing forms

      BLOOD CELLS MOLECULES AND DISEASES
    88. Low, PS; Zhang, D; Bolin, JT
      Localization of mutations leading to altered cell shape and anion transport in the crystal structure of the cytoplasmic domain of band 3

      BLOOD CELLS MOLECULES AND DISEASES
    89. Barton, EH; West, PA; Rivers, CA; Barton, JC; Acton, RG
      Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overload

      BLOOD CELLS MOLECULES AND DISEASES
    90. Aguilar-Martinez, P; Esculie-Coste, C; Bismuth, M; Giansily-Blaizot, M; Larrey, D; Schved, JF
      Transferrin receptor-2 gene and non-C282Y homozygous patients with hemochromatosis

      BLOOD CELLS MOLECULES AND DISEASES
    91. Andrikovics, H; Kalmar, L; Bors, A; Fandl, B; Petri, I; Kalasz, L; Tordai, A
      Genotype screening for hereditary hemochromatosis among voluntary blood donors in hungary

      BLOOD CELLS MOLECULES AND DISEASES
    92. Beutler, E; West, C; Speir, JA; Wilson, IA; Worley, M
      The HFE gene of browsing and grazing rhinoceroses: A possible site of adaptation to a low-iron diet

      BLOOD CELLS MOLECULES AND DISEASES
    93. Tersmette, AC; Petersen, GM; Offerhaus, GJA; Falatko, FC; Brune, KA; Goggins, M; Rozenblum, E; Wilentz, RE; Yeo, CJ; Cameron, JL; Kern, SE; Hruban, RH
      Increased risk of incident pancreatic cancer among first-degree relatives of patients with familial pancreatic cancer

      CLINICAL CANCER RESEARCH
    94. Sekine, M; Nagata, H; Tsuji, S; Hirai, Y; Fujimoto, S; Hatae, M; Kobayashi, I; Fujii, T; Nagata, I; Ushijima, K; Obata, K; Suzuki, M; Yoshinaga, M; Umesaki, N; Satoh, S; Enomoto, T; Motoyama, S; Tanaka, K
      Mutational analysis of BRCA1 and BRCA2 and clinicopathologic analysis of ovarian cancer in 82 ovarian cancer families: Two common founder mutations of BRCA1 in Japanese population

      CLINICAL CANCER RESEARCH
    95. Clippingdale, AB; Wade, JD; Barrow, CJ
      The amyloid-beta peptide and its role in Alzheimer's disease

      JOURNAL OF PEPTIDE SCIENCE
    96. Shanske, AL; Shanske, S; DiMauro, S
      The other human genome

      ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE
    97. Perusse, L; Chagnon, YC; Weisnagel, SJ; Rankinen, T; Snyder, E; Sands, J; Bouchard, C
      The human obesity gene map: The 2000 update

      OBESITY RESEARCH
    98. Yamamoto, H; Watanabe, T; Mizuno, H; Endo, K; Fukushige, J; Hosokawa, T; Kazusaka, A; Fujita, S
      The antioxidant effect of DL-alpha-lipoic acid on copper-induced acute hepatitis in Long-Evans Cinnamon (LEC) rats

      FREE RADICAL RESEARCH
    99. Stollberger, C; Molzer, G; Finsterer, J
      Seroprevalence of antibodies to microorganisms known to cause arterial andmyocardial damage in patients with or without coronary stenosis

      CLINICAL AND DIAGNOSTIC LABORATORY IMMUNOLOGY
    100. Brega, A; Narula, J; Arbustini, E
      Functional, structural, and genetic mitochondrial abnormalities in myocardial diseases

      JOURNAL OF NUCLEAR CARDIOLOGY


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Documento generato il 31/10/20 alle ore 21:16:28