Catalogo Articoli (Spogli Riviste)

HELP
ATTENZIONE: attualmente gli articoli Current Contents (fonte ISI) a partire dall'anno 2002 sono consultabili sulla Risorsa On-Line

Le informazioni sugli articoli di fonte ISI sono coperte da copyright

La ricerca find articoli where soggetti phrase all words 'NONSENSE MUTATION' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 512 riferimenti
Si mostrano 100 riferimenti a partire da 1
Selezionare un intervallo

Per ulteriori informazioni selezionare i riferimenti di interesse.

    1. Sundberg, JP; King, LE
      Morphology of hair in normal and mutant laboratory mice

      EUROPEAN JOURNAL OF DERMATOLOGY
    2. Funghini, S; Pasquini, E; Cappellini, M; Donati, MA; Morrone, A; Fonda, C; Zammarchi, E
      3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene

      MOLECULAR GENETICS AND METABOLISM
    3. Pearce-Kelling, SE; Aleman, TS; Nickle, A; Laties, AM; Aguirre, GD; Jacobson, SG; Acland, GM
      Calcium channel blocker D-cis-diltiazem does not slow retinal degenerationin the PDE6B mutant rcd1 canine model of retinitis pigmentosa

      MOLECULAR VISION
    4. Shanske, AL; Shanske, S; DiMauro, S
      The other human genome

      ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE
    5. Nieminen, P; Arte, S; Tanner, D; Paulin, L; Alaluusua, S; Thesleff, I; Pirinen, S
      Identification of a nonsense mutation in the PAX9 gene in molar oligodontia

      EUROPEAN JOURNAL OF HUMAN GENETICS
    6. Rajpar, MH; Harley, K; Laing, C; Davies, RM; Dixon, MJ
      Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta

      HUMAN MOLECULAR GENETICS
    7. van Deutekom, JCT; Bremmer-Bout, M; Janson, AAM; Ginjaar, IB; Baas, F; den Dunnen, JT; van Ommen, GJB
      Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells

      HUMAN MOLECULAR GENETICS
    8. Jungbluth, H; Sewry, CA; Brown, SC; Nowak, KJ; Laing, NG; Wallgren-Pettersson, C; Pelin, K; Manzur, AY; Mercuri, E; Dubowitz, V; Muntoni, F
      Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene

      NEUROMUSCULAR DISORDERS
    9. Mori, N; Matsumoto, Y; Okumoto, M; Suzuki, N; Yamate, J
      Variations in Prkdc encoding the catalytic subunit of DNA-dependent protein kinase (DNA-PKcs) and susceptibility to radiation-induced apoptosis and lymphomagenesis

      ONCOGENE
    10. Dansako, H; Ishimaru, F; Takai, Y; Tomoda, J; Nakase, K; Fujii, K; Ogama, Y; Kozuka, T; Sezaki, N; Honda, K; Harada, M
      Molecular characterization of the ERGIC-53 gene in two Japanese patients with combined factor V-factor VIII deficiency

      ANNALS OF HEMATOLOGY
    11. Schwerin, M
      Molecular genome analysis in livestock at the beginning of the new millennium

      REPRODUCTION IN DOMESTIC ANIMALS
    12. Kagesato, Y; Mizushima, H; Koshikawa, N; Kitamura, H; Hayashi, H; Ogawa, N; Tsukuda, M; Miyazaki, K
      Sole expression of laminin gamma 2 chain in invading tumor cells and its association with stromal fibrosis in lung adenocarcinomas

      JAPANESE JOURNAL OF CANCER RESEARCH
    13. Hu, JCC; Sun, XL; Zhang, CH; Simmer, JP
      A comparison of enamelin and amelogenin expression in developing mouse molars

      EUROPEAN JOURNAL OF ORAL SCIENCES
    14. Moriwaki, S; Kraemer, KH
      Xeroderma pigmentosum - bridging a gap between clinic and laboratory

      PHOTODERMATOLOGY PHOTOIMMUNOLOGY & PHOTOMEDICINE
    15. Calaluce, R; Kunkel, MW; Watts, GS; Schmelz, M; Hao, JS; Barrera, J; Gleason-Guzman, M; Isett, R; Fitchmun, M; Bowden, GT; Cress, AE; Futscher, BW; Nagle, RB
      Laminin-5-mediated gene expression in human prostate carcinoma cells

      MOLECULAR CARCINOGENESIS
    16. DiMauro, S; Andreu, AL
      Mutations in mitochondrial DNA as a cause of exercise intolerance

      ANNALS OF MEDICINE
    17. Casana, P; Martinez, F; Haya, S; Tavares, A; Aznar, JA
      New mutations in exon 28 of the von Willebrand factor gene detected in patients with different types of von Willebrand's disease

      HAEMATOLOGICA
    18. Martin, MA; Rubio, JC; Buchbinder, J; Fernandez-Hojas, R; del Hoyo, P; Teijeira, S; Gamez, J; Navarro, C; Fernandez, JM; Cabello, A; Campos, Y; Cervera, C; Culebras, JM; Andreu, AL; Fletterick, R; Arenas, J
      Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): A genotype-phenotype correlation study

      ANNALS OF NEUROLOGY
    19. Sironi, M; Pozzoli, U; Cagliani, R; Comi, GP; Bardoni, A; Bresolin, N
      Analysis of splicing parameters in the dystrophin gene: relevance for physiological and pathogenetic splicing mechanisms

      HUMAN GENETICS
    20. Cserhalmi-Friedman, PB; Yeboa, KA; Christiano, AM
      DNA based molecular analysis in the rapid diagnosis of Herlitz junctional epidermolysis bullosa

      CLINICAL AND EXPERIMENTAL DERMATOLOGY
    21. Salvatori, R; Fan, XG; Phillips, JA; Prince, M; Levine, MA
      Isolated growth hormone (GH) deficiency due to compound heterozygosity fortwo new mutations in the GH-releasing hormone receptor gene

      CLINICAL ENDOCRINOLOGY
    22. Dufresne, CP; Wood, TD
      Reduced enzymatic activity of glucokinase after affinity labeling: Resultsfrom spectrophotometry and electrospray ionization mass spectrometry

      JOURNAL OF PROTEIN CHEMISTRY
    23. DiMauro, S; Andreu, AL; Musumeci, O; Bonilla, E
      Diseases of oxidative phosphorylation due to mtDNA mutations

      SEMINARS IN NEUROLOGY
    24. Goytisolo, FA; Samper, E; Edmonson, S; Taccioli, GE; Blasco, MA
      The absence of the DNA-dependent protein kinase catalytic subunit in mice results in anaphase bridges and in increased telomeric fusions with normal telomere length and G-strand overhang

      MOLECULAR AND CELLULAR BIOLOGY
    25. Dimauro, S; Schon, EA
      Mitochondrial DNA mutations in human disease

      AMERICAN JOURNAL OF MEDICAL GENETICS
    26. Wong, LJC; Wang, JJ; Bowman, CM
      Two novel frame shift mutations of CFTR causing null alleles in a patient with a severe course of CF

      AMERICAN JOURNAL OF MEDICAL GENETICS
    27. Fillat, C; Espanol, T; Oset, M; Ferrando, M; Estivill, X; Volpini, V
      Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    28. Iwaki, T; Mastushita, T; Kobayashi, T; Yamamoto, Y; Nomura, Y; Kagami, K; Nakayama, T; Sugiura, I; Kojima, T; Takamatsu, J; Kanayama, N; Saito, H
      DNA sequence analysis of protein S deficiency - Identification of four point mutations in twelve Japanese subjects

      SEMINARS IN THROMBOSIS AND HEMOSTASIS
    29. Blackshaw, S; Fraioli, RE; Furukawa, T; Cepko, CL
      Comprehensive analysis of photoreceptor gene expression and the identification of candidate retinal disease genes

      CELL
    30. Shimo-Nakanishi, Y; Urabe, T; Hattori, N; Watanabe, Y; Nagao, T; Yokochi, M; Hamamoto, M; Mizuno, Y
      Polymorphism of the lipoprotein lipase gene and risk of atherothrombotic cerebral infarction in the Japanese

      STROKE
    31. Song, SH; Laipis, PJ; Berns, KI; Flotte, TR
      Effect of DNA-dependent protein kinase on the molecular fate of the rAAV2 genome in skeletal muscle

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    32. Hallman, DM; Srinvasan, SR; Elkasabany, A; Boerwinkle, E; Berenson, GS
      The Ser(447)-Stop polymorphism of lipoprotein lipase is associated with variation in longitudinal serum high-density lipoprotein-cholesterol profiles: The Bogalusa Heart Study

      METABOLISM-CLINICAL AND EXPERIMENTAL
    33. Nakagawa, M; Matsuzaki, T; Suehara, M; Kanzato, N; Takashima, H; Higuchi, I; Matsumura, T; Goto, K; Arahata, K; Osame, M
      Phenotypic variation in a large Japanese family with Miyoshi myopathy withnonsense mutation in exon 19 of dysferlin gene

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    34. Marini, I; Vecchiet, F
      Sucralfate: A help during oral management in patients with epidermolysis bullosa

      JOURNAL OF PERIODONTOLOGY
    35. Lagueny, A; Latour, P; Vital, G; Le Masson, G; Rouanet, M; Ferrer, X; Vital, C; Vandenberghe, A
      Mild recurrent neuropathy in CMT1B with a novel nonsense mutation in the extracellular domain of the MPZ gene

      JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
    36. Miller, J; Djabali, K; Chen, T; Liu, Y; Ioffreda, M; Lyle, S; Christiano, AM; Holick, M; Cotsarelis, G
      Atrichia caused by mutations in the vitamin D receptor gene is a phenocopyof generalized atrichia caused by mutations in the hairless gene

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    37. Castiglia, D; Posteraro, P; Spirito, F; Pinola, M; Angelo, C; Puddu, P; Meneguzzi, G; Zambruno, G
      Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: Effects on laminin-5 assembly, secretion, and deposition

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    38. Ruzzi, L; Pas, H; Posteraro, P; Mazzanti, C; Didona, B; Owaribe, K; Meneguzzi, G; Zambruno, G; Castiglia, D; D'Alessio, M
      A homozygous nonsense mutation in type XVII collagen gene (COL17A1) uncovers an alternatively spliced mRNA accounting for an unusually mild form of non-Herlitz junctional epidermolysis bullosa

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    39. Ogilvy-Stuart, AL; Soos, MA; Hands, SJ; Anthony, MY; Dunger, DB; O'Rahilly, S
      Hypoglycemia and resistance to ketoacidosis in a subject without functional insulin receptors

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    40. Djabali, K; Aita, VM; Christiano, AM
      Hairless is translocated to the nucleus via a novel bipartite nuclear localization signal and is associated with the nuclear matrix

      JOURNAL OF CELL SCIENCE
    41. Lerner, LE; Gribanova, YE; Ji, M; Knox, BE; Farber, DB
      Nrl and Sp nuclear proteins mediate transcription of rod-specific cGMP-phosphodiesterase beta-subunit gene - Involvement of multiple response elements

      JOURNAL OF BIOLOGICAL CHEMISTRY
    42. Gibson, CW; Yuan, ZA; Hall, B; Longenecker, G; Chen, EH; Thyagarajan, T; Sreenath, T; Wright, JT; Decker, S; Piddington, R; Harrison, G; Kulkarni, AB
      Amelogenin-deficient mice display an amelogenesis imperfecta phenotype

      JOURNAL OF BIOLOGICAL CHEMISTRY
    43. Bacolla, A; Jaworski, A; Connors, TD; Wells, RD
      PKD1 unusual DNA conformations are recognized by nucleotide excision repair

      JOURNAL OF BIOLOGICAL CHEMISTRY
    44. Slimane, MN; Lestavel, S; Sun, XM; Maatouk, F; Soutar, AK; Ben Farhat, MH; Clavey, V; Benlian, P; Hammami, M
      Fh-Souassi: a founder frameshift mutation in exon 10 of the LDL-receptor gene, associated with a mild phenotype in Tunisian families

      ATHEROSCLEROSIS
    45. Recalde, D; Velez-Carrasco, W; Civeira, F; Cenarro, A; Gomez-Coronado, D; Ordovas, JM; Pocovi, M
      Enhanced fractional catabolic rate of apo A-I and apo A-II in heterozygoussubjects for apo A-I-Zaragoza (L144R)

      ATHEROSCLEROSIS
    46. Van Gele, M; Leonard, JH; Van Roy, N; Cook, AL; De Paepe, A; Speleman, F
      Frequent allelic loss at 10q23 but low incidence of PTEN mutations in Merkel cell carcinoma

      INTERNATIONAL JOURNAL OF CANCER
    47. Osawa, H; Nishimiya, T; Ochi, M; Niiya, T; Onuma, H; Kitamuro, F; Kaino, Y; Kida, K; Makino, H
      Identification of novel C253Y missense and Y864X nonsense mutations in theinsulin receptor gene in type A insulin-resistant patients

      CLINICAL GENETICS
    48. van Wijk, R; Montefusco, MC; Duga, S; Asselta, R; van Solinge, W; Malcovati, M; Tenchini, ML; Mannucci, PM
      Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency

      BRITISH JOURNAL OF HAEMATOLOGY
    49. Takamiya, O; Okimoto, Y
      Severe factor VII deficiency with recurrent intracranial haemorrhages owing to double heterozygosity for a splice site mutation of an IVS4 and a novel nonsense mutation in exon 8 (Gln211 -> Term)

      BRITISH JOURNAL OF HAEMATOLOGY
    50. Ichikawa, E; Furuta, J; Kawachi, Y; Imakado, S; Otsuka, F
      Hereditary complement (C9) deficiency associated with dermatomyositis

      BRITISH JOURNAL OF DERMATOLOGY
    51. Pirila, E; Maisi, P; Salo, T; Koivunen, E; Sorsa, T
      In vivo localization of gelatinases (MMP-2 and-9) by in situ zymography with a selective gelatinase inhibitor

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    52. Wan, XZ; Kong, J; Li, YC
      Protein kinase C is involved in the regulation of hairless mRNA expressionduring mouse keratinocyte differentiation

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    53. Lin, CT; Sargan, DR
      Generation and analysis of canine retinal ESTs: Isolation and expression of retina-specific gene transcripts

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    54. Gilbert, B; Rouis, M; Griglio, S; de Lumley, L; Laplaud, PM
      Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6

      ANNALES DE GENETIQUE
    55. Durst, R; Colombo, R; Shpitzen, S; Ben Avi, L; Friedlander, Y; Wexler, R; Raal, FJ; Marais, DA; Defesche, JC; Mandelshtam, MY; Kotze, MJ; Leitersdorf, E; Meiner, V
      Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: Positive selection is not always necessary to account for disease incidence among Ashkenazi Jews

      AMERICAN JOURNAL OF HUMAN GENETICS
    56. Rossetti, S; Strmecki, L; Gamble, V; Burton, S; Sneddon, V; Peral, B; Roy, S; Bakkaloglu, A; Komel, R; Winearls, CG; Harris, PC
      Mutation analysis of the entire PKD1 gene: Genetic and diagnostic implications

      AMERICAN JOURNAL OF HUMAN GENETICS
    57. Hong, KM; Kim, YS; Paik, MK
      A novel nonsense mutation of the GTP cyclohydrolase I gene in a family with dopa-responsive dystonia

      HUMAN HEREDITY
    58. Fujii, H; Miwa, S
      Other erythrocyte enzyme deficiencies associated with non-haematological symptoms: phosphoglycerate kinase and phosphofructokinase deficiency

      BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY
    59. Kikuchi, S; Tanoue, A; Endo, F; Wakasugi, S; Matsuo, N; Tsujimoto, G
      A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency

      JOURNAL OF HUMAN GENETICS
    60. Okuhara, K; Tajima, T; Nakae, J; Fujieda, K
      A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal

      JOURNAL OF HUMAN GENETICS
    61. Akagi, M; Inui, K; Nakajima, S; Shima, M; Nishigaki, T; Muramatsu, T; Kokubu, C; Tsukamoto, H; Sakai, N; Okada, S
      Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome

      JOURNAL OF HUMAN GENETICS
    62. Takahashi, T; Hara, K; Inoue, H; Kawa, Y; Tokunaga, C; Hidayat, S; Yoshino, K; Kuroda, Y; Yonezawa, K
      Carboxyl-terminal region conserved among phosphoinositide-kinase-related kinases is indispensable for mTOR function in vivo and in vitro

      GENES TO CELLS
    63. Dipple, KM; McCabe, ERB
      Modifier genes convert "simple" Mendelian disorders to complex traits

      MOLECULAR GENETICS AND METABOLISM
    64. Wu, GQ; Somlo, S
      Molecular genetics and mechanism of autosomal dominant polycystic kidney disease

      MOLECULAR GENETICS AND METABOLISM
    65. Trudel, M; Guillaume, R
      Progress in molecular genetics of autosomal dominant polycystic kidney disease

      FRONTIERS IN BIOSCIENCE
    66. Wilschanski, M; Famini, C; Blau, H; Rivlin, J; Augarten, A; Avital, A; Kerem, B; Kerem, E
      A pilot study of the effect of gentamicin on nasal potential difference measurements in cystic fibrosis patients carrying stop mutations

      AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
    67. Tunggal, P; Smyth, N; Paulsson, M; Ott, MC
      Laminins: Structure and genetic regulation

      MICROSCOPY RESEARCH AND TECHNIQUE
    68. McGowan, KA; Marinkovich, MP
      Laminins and human disease

      MICROSCOPY RESEARCH AND TECHNIQUE
    69. Bogdanova, N; McCluskey, M; Sikmann, K; Markoff, A; Todorov, V; Dimitrakov, D; Schiavello, T; Thomas, M; Kalaydjieva, L; Dworniczak, B; Horst, J
      Screening the 3 ' region of the polycystic kidney disease 1 (PKD1) gene in41 Bulgarian and Australian kindreds reveals a prevalance of protein truncating mutations

      HUMAN MUTATION
    70. Perrichot, R; Mercier, B; Quere, I; Carre, A; Simon, P; Whebe, B; Cledes, J; Ferec, C
      Novel mutations in the duplicated region of PKD1 gene

      EUROPEAN JOURNAL OF HUMAN GENETICS
    71. Ginjaar, IB; Kneppers, ALJ; von der Meulen, JDM; Anderson, LVB; Bremmer-Bout, M; van Deutekom, JCT; Weegenaar, J; den Dunnen, JT; Bakker, E
      Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family

      EUROPEAN JOURNAL OF HUMAN GENETICS
    72. Kanemitsu, S; Ihara, K; Kira, R; Kaku, Y; Sakai, K; Tsuzaka, K; Takeuchi, T; Hara, T
      Complement component 9 deficiency is not a susceptibility factor for SLE

      LUPUS
    73. Rother, KI; Accili, D
      Role of insulin receptors and IGF receptors in growth and development

      PEDIATRIC NEPHROLOGY
    74. Yawata, Y; Kanzaki, A; Yawata, A; Doerfler, W; Ozcan, R; Eber, SW
      Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population

      INTERNATIONAL JOURNAL OF HEMATOLOGY
    75. Errami, A; Overkamp, WJI; He, DM; Friedl, AA; Gell, DA; Eckardt-Schupp, F; Jackson, SP; Hendrickson, EA; Lohman, PHM; Zdzienicka, MZ
      A new X-ray sensitive CHO cell mutant of ionizing radiation group 7, XR-C2, that is defective in DSB repair but has only a mild defect in V(D)J recombination

      MUTATION RESEARCH-DNA REPAIR
    76. Cserhalmi-Friedman, PB; Tang, Y; Adler, A; Krey, L; Grifo, JA; Christiano, AM
      Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa

      EXPERIMENTAL DERMATOLOGY
    77. Aita, VM; Ahmad, W; Panteleyev, AA; Kozlowska, U; Kozlowska, A; Gilliam, TC; Jablonska, S; Christiano, AM
      A novel missense mutation (C622G) in the zinc-finger domain of the human hairless gene associated with congenital atrichia with papular lesions

      EXPERIMENTAL DERMATOLOGY
    78. Patterson, DF
      Companion animal medicine in the age of medical genetics

      JOURNAL OF VETERINARY INTERNAL MEDICINE
    79. Valentin, C; Cohen-Solal, M; Maquat, L; Horanyi, M; Inselt-Kovacs, M; Hollan, S
      Identical germ-line mutations in the triosephosphate isomerase alleles of two brothers are associated with distinct clinical phenotypes

      COMPTES RENDUS DE L ACADEMIE DES SCIENCES SERIE III-SCIENCES DE LA VIE-LIFE SCIENCES
    80. Ashton, GHS; Eady, RAJ; McGrath, JA
      Prenatal diagnosis for inherited skin diseases

      CLINICS IN DERMATOLOGY
    81. Zhang, Q; Ray, K; Acland, GM; Czarnecki, JM; Aguirre, GD
      Molecular cloning, characterization and expression of a novel retinal clusterin-like protein cDNA

      GENE
    82. Wang, Y; Kim, KS
      Effect of rpoS mutations on stress-resistance and invasion of brain microvascular endothelial cells in Escherichia coli K1

      FEMS MICROBIOLOGY LETTERS
    83. Sato, E; Kawamata, N; Kato, A; Oshimi, K
      A novel mutation that leads to a congenital factor XI deficiency in a Japanese family

      AMERICAN JOURNAL OF HEMATOLOGY
    84. Muroi, J; Yorifuji, T; Uematsu, A; Shigematsu, Y; Onigata, K; Maruyama, H; Nobutoki, T; Kitamura, A; Nakahata, T
      Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency

      HUMAN GENETICS
    85. Orozco, L; Velazquez, R; Zielenski, J; Tsui, LC; Chavez, M; Lezana, JL; Saldana, Y; Hernandez, E; Carnevale, A
      Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations [W1098C, 846delT, P750L, 4160insGGGG and 297-1G -> A)

      HUMAN GENETICS
    86. Iida, H; Ishii, E; Nakahara, M; Urata, M; Wakiyama, M; Kurihara, M; Watanabe, K; Kai, T; Ihara, K; Kinoshita, S; Hamasaki, N
      A case of congenital afibrinogenemia: Fibrinogen Hakata, a novel nonsense mutation of the fibrinogen gamma-chain gene

      THROMBOSIS AND HAEMOSTASIS
    87. Masunaga, T; Shimizu, H; Matsui, C; Aozaki, R; Morohashi, M; Yasumoto, S; Nishikawa, T
      LAMB3 gene transfection into SV40-transformed keratinocytes from patient with Herlitz junctional epidermolysis bullosa

      ARCHIVES OF DERMATOLOGICAL RESEARCH
    88. Beamish, HJ; Jessberger, R; Riballo, E; Priestley, A; Blunt, T; Kysela, B; Jeggo, PA
      The C-terminal conserved domain of DNA-PKcs, missing in the SCID mouse, isrequired for kinase activity

      NUCLEIC ACIDS RESEARCH
    89. Airenne, T; Lin, YF; Olsson, M; Ekblom, P; Vainio, S; Tryggvason, K
      Differential expression of mouse laminin gamma 2 and gamma 2*chain transcripts

      CELL AND TISSUE RESEARCH
    90. Jhappan, C; Yusufzai, TM; Anderson, S; Anver, MR; Merlino, G
      The p53 response to DNA damage in vivo is independent of DNA-dependent protein kinase

      MOLECULAR AND CELLULAR BIOLOGY
    91. Tarugi, P; Lonardo, A; Ballarini, G; Erspamer, L; Tondelli, E; Bertolini, S; Calandra, S
      A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (APO B-54.5)

      JOURNAL OF HEPATOLOGY
    92. Becane, HM; Bonne, G; Varnous, S; Muchir, A; Ortega, V; Hammouda, E; Urtizberea, JA; Lavergne, T; Fardeau, M; Eymard, B; Weber, S; Schwartz, K; Duboc, D
      High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation

      PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY
    93. Ogueta, SB; Di Polo, A; Flannery, JG; Yamashita, CK; Farber, DB
      The human cGMP-PDE beta-subunit promoter region directs expression of the gene to mouse photoreceptors

      INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
    94. Glaser, B
      Hyperinsulinism of the newborn

      SEMINARS IN PERINATOLOGY
    95. Fujimori, A; Araki, R; Fukumura, R; Ohhata, T; Takahashi, H; Kawahara, A; Tatsumi, K; Abe, M
      Identification of four highly conserved regions in DNA-PKcs

      IMMUNOGENETICS
    96. Koster, JC; Marshall, BA; Ensor, N; Corbett, JA; Nichols, CG
      Targeted overactivity of beta cell K-ATP channels induces profound neonatal diabetes

      CELL
    97. Phakdeekitcharoen, B; Watnick, TJ; Ahn, C; Whang, DY; Burkhart, B; Germino, GG
      Thirteen novel mutations of the replicated region of PKD1 in an Asian population

      KIDNEY INTERNATIONAL
    98. Lerner, LE; Farber, DB
      Transcriptional regulation of the cGMP phosphodiesterase beta-subunit gene

      VERTEBRATE PHOTOTRANSDUCTION AND THE VISUAL CYCLE, PART A
    99. Frederick, J; Bronson, JD; Baehr, W
      Animal models of inherited retinal diseases

      VERTEBRATE PHOTOTRANSDUCTION AND THE VISUAL CYCLE, PT B
    100. Miura, M; Watanabe, H; Okochi, K; Sasaki, T; Shibuya, H
      Biological response to ionizing radiation in mouse embryo fibroblasts witha targeted disruption of the DNA polymerase beta gene

      RADIATION RESEARCH


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 31/05/20 alle ore 22:56:02