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    1. Arlt, MF; Miller, DE; Beer, DG; Glover, TW
      Molecular characterization of FRAXB and comparative common fragile site instability in cancer cells

      GENES CHROMOSOMES & CANCER
    2. Eberhart, CG; Kratz, JE; Schuster, A; Goldthwaite, P; Cohen, KJ; Perlman, EJ; Burger, PC
      Comparative genomic hybridization detects an increased number of chromosomal alterations in large cell/anaplastic medulloblastomas

      BRAIN PATHOLOGY
    3. Shanado, Y; Hanada, K; Ikeda, H
      Suppression of gamma ray-induced illegitimate recombination in Escherichiacoli by the DNA binding protein H-NS

      MOLECULAR GENETICS AND GENOMICS
    4. Oehninger, S
      Strategies for the infertile man

      SEMINARS IN REPRODUCTIVE MEDICINE
    5. Ogino, S; Leonard, DGB; Rennert, H; Gao, SZ; Wilson, RB
      Heteroduplex formation in SMN gene dosage analysis

      JOURNAL OF MOLECULAR DIAGNOSTICS
    6. Ogino, S
      A method to compensate for different amplification efficiencies

      JOURNAL OF MOLECULAR DIAGNOSTICS
    7. El-Rifai, W; Rutherford, S; Knuutila, S; Frierson, HF; Moskaluk, CA
      Novel DNA copy number losses in chromosome 12q12-q13 in adenoid cystic carcinoma

      NEOPLASIA
    8. Skotheim, RI; Kraggerud, SM; Fossa, SD; Stenwig, AE; Gedde-Dahl, T; Danielsen, HE; Jakobsen, KS; Lothe, RA
      Familial/bilateral and sporadic testicular germ cell tumors show frequent genetic changes at loci with suggestive linkage evidence

      NEOPLASIA
    9. Bench, AJ; Cross, NCP; Huntly, BJP; Nacheva, EP; Green, AR
      Myeloproliferative disorders

      BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY
    10. Yampolsky, LY; Stoltzfus, A
      Bias in the introduction of variation as an orienting factor in evolution

      EVOLUTION & DEVELOPMENT
    11. Larsson, NG; Rustin, P
      Animal models for respiratory chain disease

      TRENDS IN MOLECULAR MEDICINE
    12. Muramatsu, M; Honjo, T
      Complex layers of genetic alteration in the generation of antibody diversity

      TRENDS IN IMMUNOLOGY
    13. Kittiniyom, K; Gorse, KM; Dalbegue, F; Lichy, JH; Taubenberger, JK; Newsham, IF
      Allelic loss on chromosome band 18p11.3 occurs early and reveals heterogeneity in breast cancer progression

      BREAST CANCER RESEARCH
    14. Komori, S; Nakata, Y; Sakata, K; Kato, H; Koyoma, K
      Analysis for microdeletions of Y chromosome in a single spermatozoon from a man with severe oligozoospermia

      JOURNAL OF HUMAN GENETICS
    15. Wojnar, P; van't Hof, W; Merschak, P; Lechner, M; Redl, B
      The N-terminal part of recombinant human tear lipocalin/von Ebner's gland protein confers cysteine proteinase inhibition depending on the presence ofthe entire cystatin-like sequence motifs

      BIOLOGICAL CHEMISTRY
    16. Seijo, ER; Song, HJ; Lynch, MA; Jennings, R; Qong, X; Lazaridis, E; Muro-Cacho, C; Weghorst, CM; Munoz-Antonia, T
      Identification of genetic alterations in the TGF beta type II receptor gene promoter

      MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
    17. Balbinder, E
      Stationary phase deletions in Escherichia coli I - Evidence for a new deletion pathway

      MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
    18. Balbinder, E
      Stationary phase deletions in Escherichia coli - II. Mutations which stimulate stationary phase deletions in plasmid pMC874

      MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
    19. Potter, T; Wedemeyer, N; van Dulmen, A; Kohnlein, W; Gohde, W
      Identification of a deletion hotspot on distal mouse chromosome 4 by YAC fingerprinting

      MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
    20. Balestrieri, E; Zanier, R; Degrassi, F
      Molecular characterisation of camptothecin-induced mutations at the hprt locus in Chinese hamster cells

      MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
    21. Berdanier, CD; Everts, HB
      Mitochondrial DNA in aging and degenerative disease

      MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
    22. Powell, SC; Wartell, RM
      Different characteristics distinguish early versus late arising adaptive mutations in Escherichia coli FC40

      MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
    23. Wedemeyer, N; Greve, B; Uthe, D; Potter, T; Denklau, D; Severin, E; Hacker-Klom, U; Kohnlein, W; Gohde, W
      Frequency of CD59 mutations induced in human-hamster hybrid A(L) cells by low-dose X-irradiation

      MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
    24. Lee, HC; Yin, PH; Yu, TN; Chang, YD; Hsu, WC; Kao, SY; Chi, CW; Liu, TY; Wei, YH
      Accumulation of mitochondrial DNA deletions in human oral tissues - effects of betel quid chewing and oral cancer

      MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS
    25. Viswanathan, M; Tsuchida, N; Shanmugam, G
      Selective deletion of p14(ARF) exon 1 beta of the INK4a locus in oral squamous cell carcinomas of Indians

      ORAL ONCOLOGY
    26. Stouffs, K; Lissens, W; Van Landuyt, L; Tournaye, H; Van Steirteghem, A; Liebaers, I
      Characterization of the genomic organization, localization and expression of four PRY genes (PRY1, PRY2, PRY3 and PRY4)

      MOLECULAR HUMAN REPRODUCTION
    27. Reynier, P; May-Panloup, P; Chretien, MF; Morgan, CJ; Jean, M; Savagner, F; Barriere, P; Malthiery, Y
      Mitochondrial DNA content affects the fertilizability of human oocytes

      MOLECULAR HUMAN REPRODUCTION
    28. Ray, PF; Vekemans, M; Munnich, A
      Single cell multiplex PCR amplification of five dystrophin gene exons combined with gender determination

      MOLECULAR HUMAN REPRODUCTION
    29. Kamp, C; Huellen, K; Fernandes, S; Sousa, M; Schlegel, PN; Mielnik, A; Kleiman, S; Yavetz, H; Krause, W; Kupker, W; Johannisson, R; Schulze, W; Weidner, W; Barros, A; Vogt, PH
      High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome

      MOLECULAR HUMAN REPRODUCTION
    30. St John, JC; Jokhi, RP; Barratt, CLR
      Men with oligoasthenoteratazoospermia harbour higher numbers of multiple mitochondrial DNA deletions in their spermatozoa, but individual deletions are not indicative of overall aetiology

      MOLECULAR HUMAN REPRODUCTION
    31. Saito, T; Guan, F; Papolos, DF; Rajouria, N; Fann, CSJ; Lachman, HM
      Polymorphism in SNAP29 gene promoter region associated with schizophrenia

      MOLECULAR PSYCHIATRY
    32. Kohda, T; Asai, A; Kuroiwa, Y; Kobayashi, S; Aisaka, K; Nagashima, G; Yoshida, MC; Kondo, Y; Kagiyama, N; Kirino, T; Kaneko-Ishino, T; Ishino, F
      Tumour suppressor activity of human imprinted gene PEG3 in a glioma cell line

      GENES TO CELLS
    33. Silber, SJ
      The varicocele dilemma

      HUMAN REPRODUCTION UPDATE
    34. Mellick, GD; Buchanan, DD; Hattori, N; Brookes, AJ; Mizuno, Y; Le Couteur, DG; Silburn, PA
      The parkin gene S/N167 polymorphism in Australian Parkinson's disease patients and controls

      PARKINSONISM & RELATED DISORDERS
    35. Bleichert, A; Fiedler, W; Claussen, U; Ernst, G; Loncarevic, IF; Heller, A; Liehr, T; Kunert, C; Von Eggeling, F
      A long distance-PCR derived FISH probe detects a deletion between p15 and p16 in CML and T-ALL patients

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    36. Chung, MY; Lu, JH; Chien, HP; Hwang, B
      Chromosome 22q11 microdeletion in conotruncal heart defects: Clinical presentation, parental origin and de novo mutations

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    37. Sossey-Alaoui, K; Kitamura, E; Cowell, JK
      Fine mapping of the PTGFR gene to 1p31 region and mutation analysis in human breast cancer

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    38. Wong, LJC
      Recognition of mitochondrial DNA deletion syndrome with non-neuromuscular multisystemic manifestation

      GENETICS IN MEDICINE
    39. Fan, YS; Zhang, Y; Speevak, M; Farrell, S; Jung, JH; Siu, VM
      Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes

      GENETICS IN MEDICINE
    40. 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
    41. Russo, PA; Mitchell, GA; Tanguay, RM
      Tyrosinemia: A review

      PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
    42. Lorey, F; Cunningham, G; Vichinsky, EP; Lubin, BH; Witkowska, HE; Matsunaga, A; Azimi, M; Sherwin, J; Eastman, J; Farina, F; Waye, JS; Chui, DHK
      Universal newborn screening for Hb H disease in California

      GENETIC TESTING
    43. Edelmann, L; Stankiewicz, P; Spiteri, E; Pandita, RK; Shaffer, L; Lupski, J; Morrow, BE
      Two function copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus

      GENOME RESEARCH
    44. Hong, R
      The DiGeorge anomaly

      CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
    45. Brown, J; Saracoglu, K; Uhrig, S; Speicher, MR; Eils, R; Kearney, L
      Subtelomeric chromosome rearrangements are detected using an innovative 12-color FISH assay (M-TEL)

      NATURE MEDICINE
    46. Momoi, H; Okabe, H; Kamikawa, T; Satoh, S; Ikai, I; Yamamoto, M; Nakagawara, A; Shimahara, Y; Yamaoka, Y; Fukumoto, M
      Comprehensive allelotyping of human intrahepatic cholangiocarcinoma

      CLINICAL CANCER RESEARCH
    47. Ricevuto, E; Sobol, H; Stoppa-Lyonnet, D; Gulino, A; Marchetti, P; Ficorella, C; Martinotti, S; Meo, T; Tosi, M
      Diagnostic strategy for analytical scanning of BRCA1 gene by fluorescence-assisted mismatch analysis using large, bifluorescently labeled amplicons

      CLINICAL CANCER RESEARCH
    48. Manne, U; Gary, BD; Oelschlager, DK; Weiss, HL; Frost, AR; Grizzle, WE
      Altered subcellular localization of suppressin, a novel inhibitor of cell-cycle entry, is an independent prognostic factor in colorectal adenocarcinomas

      CLINICAL CANCER RESEARCH
    49. Shanske, AL; Shanske, S; DiMauro, S
      The other human genome

      ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE
    50. MacDonald, TJ; Brown, KM; LaFleur, B; Peterson, K; Lawlor, C; Chen, YD; Packer, RJ; Cogen, P; Stephan, DA
      Expression profiling of medulloblastoma: PDGFRA and the RAS/MAPK pathway as therapeutic targets for metastatic disease

      NATURE GENETICS
    51. Goodwin, NC; Ishida, Y; Hartford, S; Wnek, C; Bergstrom, RA; Leder, P; Schimenti, JC
      DellBank: a mouse ES-cell resource for generating deletions

      NATURE GENETICS
    52. Moraes, CT
      A helicase is born

      NATURE GENETICS
    53. Van Goethem, G; Dermaut, B; Lofgren, A; Martin, JJ; Van Broeckhoven, C
      Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

      NATURE GENETICS
    54. Spelbrink, JN; Li, FY; Tiranti, V; Nikali, K; Yuan, QP; Tariq, M; Wanrooij, S; Garrido, N; Comi, G; Morandi, L; Santoro, L; Toscano, A; Fabrizi, GM; Somer, H; Croxen, R; Beeson, D; Poulton, L; Suomalainen, A; Jacobs, HT; Zeviani, M; Larsson, C
      Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene LF-like protein localized in mitochondria

      NATURE GENETICS
    55. Ono, T; Isobe, K; Nakada, K; Hayashi, JI
      Human cells are protected from mitochondrial dysfunction by complementation of DNA products in fused mitochondria

      NATURE GENETICS
    56. El-Maarri, O; Buiting, K; Peery, EG; Kroisel, PM; Balaban, B; Wagner, K; Urman, B; Heyd, J; Lich, C; Brannan, CI; Walter, J; Horsthemke, B
      Maternal methylation imprints on human chromosome 15 are established during or after fertilization

      NATURE GENETICS
    57. Harrer, T; Schwinger, E; Mennicke, K
      A new technique for cyclic in situ amplification and a case report about amplification of a single copy gene sequence in human metaphase chromosome through PCR-PRINS

      HUMAN MUTATION
    58. Van Golde, RJT; Tuerlings, JHAM; Kremer, JAM; Braat, DDM; Schoute, F; Hoefsloot, LH
      DAZLA: An important candidate gene in male subfertility?

      JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
    59. Bor, P; Hindkjaer, J; Ingerslev, HJ; Kolvraa, S
      Multiplex PCR for screening of microdeletions on the Y chromosome

      JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
    60. Nilsson, AS; Haggard-Ljungquist, E
      Detection of homologous recombination among bacteriophage P2 relatives

      MOLECULAR PHYLOGENETICS AND EVOLUTION
    61. Lebo, RV; Maher, T; Farrer, L; Fenerci, EY; Milunsky, JM
      Highly polymorphic short tandem repeat analyses clarify complex molecular test results

      DIAGNOSTIC MOLECULAR PATHOLOGY
    62. Auroy, S; Avril, MF; Chompret, A; Pham, D; Goldstein, AM; Bianchi-Scarra, G; Frebourg, T; Joly, P; Spatz, A; Rubino, C; Demenais, F; Bressac-de Paillerets, B
      Sporadic multiple primary melanoma cases: CDKN2A germline mutations with afounder effect

      GENES CHROMOSOMES & CANCER
    63. Busson-Le Coniat, M; Khac, FN; Daniel, MT; Bernard, OA; Berger, R
      Chromosome 21 abnormalities with AMLI amplification in acute lymphoblasticleukemia

      GENES CHROMOSOMES & CANCER
    64. Caballero, OL; Cohen, D; Liu, Q; Esteller, M; Bonacum, J; White, P; Engles, J; Yochem, R; Herman, JG; Westra, WH; Lengauer, C; Sidransky, D; Jen, J
      Loss of chromosome arms 3p and 9p and inactivation of P16 (INK4a) in normal epithelium of patients with primary lung cancer

      GENES CHROMOSOMES & CANCER
    65. Meijne, E; Huiskamp, R; Haines, J; Moody, J; Finnon, R; Wilding, J; Spanjer, S; Bouffler, S; Edwards, A; Cox, R; Silver, A
      Analysis of loss of heterozygosity in lymphoma and leukaemia arising in F1hybrid mice locates a common region of chromosome 4 loss

      GENES CHROMOSOMES & CANCER
    66. Phillips, JL; Ghadimi, BM; Wangsa, D; Padilla-Nash, H; Worrell, R; Hewitt, S; Walther, M; Linehan, WM; Klausner, RD; Ried, T
      Molecular cytogenetic characterization of early and late renal cell carcinomas in Von Hippel-Lindau disease

      GENES CHROMOSOMES & CANCER
    67. Fang, JM; Arlt, MF; Burgess, AC; Dagenais, SL; Beer, DG; Glover, TW
      Translocation breakpoints in FHIT and FRA3B in both homologs of chromosome3 in an esophageal adenocarcinoma

      GENES CHROMOSOMES & CANCER
    68. Gollin, SM
      Chromosomal alterations in squamous cell carcinomas of the head and neck: Window to the biology of disease

      HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK
    69. Zhu, Y; Loukola, A; Monni, O; Kuokkanen, K; Franssila, K; Elonen, E; Vilpo, J; Joensuu, H; Kere, J; Aaltonen, L; Knuutila, S
      PPP2R1B gene in chronic lymphocytic leukemias and mantle cell lymphomas

      LEUKEMIA & LYMPHOMA
    70. Bigoni, R; Cuneo, A; Milani, R; Roberti, MG; Bardi, A; Rigolin, GM; Cavazzini, F; Agostini, P; Castoldi, G
      Secondary chromosome changes in mantle cell lymphoma: Cytogenetic and fluorescence in situ hybridization studies

      LEUKEMIA & LYMPHOMA
    71. Santon, A; Bellas, C
      Deletions within the Epstein-Barr virus latent membrane protein-1 oncogenein adult ordinary, HIV-associated and paediatric Hodgkin's disease

      LEUKEMIA & LYMPHOMA
    72. Monni, O; Knuutila, S
      11q deletions in hematological malignancies

      LEUKEMIA & LYMPHOMA
    73. Cuneo, BF
      22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes

      CURRENT OPINION IN PEDIATRICS
    74. Tyazhelova, TV; Ivanov, DV; Makeeva, NV; Kapanadze, BI; Nikitin, EA; Semov, AB; Sangfelt, O; Grander, D; Vorobiev, AI; Einhorn, S; Yankovsky, NK; Baranova, AV
      The transcription map of the 13q14 region frequently deleted in B-cell chronic lymphocytic leukemia

      RUSSIAN JOURNAL OF GENETICS
    75. Udina, IG; Baranova, AV; Kompaniytsev, AA; Sulimova, GE
      The evolutionarily conserved CKAP2 gene is located in human region 13q14.3often rearranged in various tumors

      RUSSIAN JOURNAL OF GENETICS
    76. Papp, T; Schipper, H; Pemsel, H; Unverricht, M; Muller, KM; Wiethege, T; Schiffmann, D; Rahman, Q
      Mutational analysis of the PTEN/MMAC1 tumour suppressor gene in primary human malignant mesotheliomas

      ONCOLOGY REPORTS
    77. Iyoda, A; Hiroshima, K; Toyozaki, T; Baba, M; Fujisawa, T; Yusa, T; Ohwada, H
      Microsatellite alterations in patients with thoracic sarcoma

      ONCOLOGY REPORTS
    78. Van der Looij, M; Papp, J; Sztan, M; Pulay, T; Elfadil, I; Besznyak, I; Toth, J; Devilee, P; Olah, E
      Allelic imbalance and microsatellite instability in BRCA1 associated breast and ovarian tumors

      INTERNATIONAL JOURNAL OF ONCOLOGY
    79. Isler, SG; Schenk, S; Bendik, I; Schraml, P; Novotna, H; Moch, H; Sauter, G; Ludwig, CU
      Genomic organization and chromosomal mapping of SPARC-like 1, a gene down regulated in cancers

      INTERNATIONAL JOURNAL OF ONCOLOGY
    80. Scheffer, H; Cobben, JM; Matthijs, G; Wirth, B
      Best practice guidelines for molecular analysis in spinal muscular atrophy

      EUROPEAN JOURNAL OF HUMAN GENETICS
    81. Runte, M; Farber, C; Lich, C; Zeschnigk, M; Buchholz, T; Smith, A; Van Maldergem, L; Burger, J; Muscatelli, F; Gillessen-Kaesbach, G; Horsthemke, B; Buiting, K
      Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15

      EUROPEAN JOURNAL OF HUMAN GENETICS
    82. Colleaux, L; Rio, M; Heuertz, S; Moindrault, S; Turleau, C; Ozilou, C; Gosset, P; Raoult, O; Lyonnet, S; Cormier-Daire, V; Amiel, J; Le Merrer, M; Picq, M; de Blois, MC; Prieur, M; Romana, S; Cornelis, F; Vekemans, M; Munnich, A
      A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation

      EUROPEAN JOURNAL OF HUMAN GENETICS
    83. Cho, K; Ryu, K; Lee, E; Won, S; Kim, J; Yoo, OJ; Hahn, S
      Correlation between genotype and phenotype in Korean patients with spinal muscular atrophy

      MOLECULES AND CELLS
    84. Lukusa, T; Willekens, D; Lukusa, N; De Cock, P; Fryns, JP
      Terminal 6q25.3 deletion and abnormal behaviour

      GENETIC COUNSELING
    85. Komatsu, H; Kihara, A; Komura, E; Mitsufuji, N; Tsujii, H; Kakita, S; Ikuta, H
      Combined trisomy 9p and Shprintzen syndrome resulting from a paternal t(9;22)

      GENETIC COUNSELING
    86. Schmalbruch, H; Haase, G
      Spinal muscular atrophy: Present state

      BRAIN PATHOLOGY
    87. Ludwig, M; Geipel, A; Berg, C; Gembruch, U; Schwinger, E; Diedrich, K
      Is intracytoplasmic sperm injection itself an indication to perform preimplantation genetic diagnosis (PGD)? About PGD, invasive prenatal diagnosis and genetic sonography

      FETAL DIAGNOSIS AND THERAPY
    88. Zhu, XH; Zhang, H; Fukamizo, T; Muthukrishnan, S; Kramer, KJ
      Properties of Manduca sexta chitinase and its C-terminal deletions

      INSECT BIOCHEMISTRY AND MOLECULAR BIOLOGY
    89. Lindsay, EA; Baldini, A
      Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region

      HUMAN MOLECULAR GENETICS
    90. Morrissette, JJD; Colliton, RP; Spinner, NB
      Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome

      HUMAN MOLECULAR GENETICS
    91. Wirth, J; Back, E; Huttenhofer, A; Nothwang, HG; Lich, C; Gross, S; Menzel, C; Schinzel, A; Kioschis, P; Tommerup, N; Ropers, HH; Horsthemke, B; Buiting, K
      A translocation breakpoint cluster disrupts the newly defined 3 ' end of the SNURF-SNRPN transcription unit on chromosome 15

      HUMAN MOLECULAR GENETICS
    92. Paylor, R; McIlwain, KL; McAninch, R; Nellis, A; Yuva-Paylor, LA; Baldini, A; Lindsay, EA
      Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments

      HUMAN MOLECULAR GENETICS
    93. Runte, M; Huttenhofer, A; Gross, S; Kiefmann, M; Horsthemke, B; Buiting, K
      The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A

      HUMAN MOLECULAR GENETICS
    94. Shoubridge, EA
      Nuclear genetic defects of oxidative phosphorylation

      HUMAN MOLECULAR GENETICS
    95. Naf, D; Wilson, LA; Bergstrom, RA; Smith, RS; Goodwin, NC; Verkerk, A; van Ommen, GJ; Ackerman, SL; Frankel, WN; Schimenti, JC
      Mouse models for the Wolf-Hirschhorn deletion syndrome

      HUMAN MOLECULAR GENETICS
    96. Hedrich, K; Kann, M; Lanthaler, AJ; Dalski, A; Eskelson, C; Landt, F; Schwinger, E; Vieregge, P; Lang, AE; Breakefield, XO; Ozelius, LJ; Pramstaller, PP; Klein, C
      The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism

      HUMAN MOLECULAR GENETICS
    97. Lopez-Correa, C; Dorschner, M; Brems, H; Lazaro, C; Clementi, M; Upadhyaya, M; Dooijes, D; Moog, U; Kehrer-Sawatzki, H; Rutkowski, JL; Fryns, JP; Marynen, P; Stephens, K; Legius, E
      Recombination hotspot in NF1 microdeletion patients

      HUMAN MOLECULAR GENETICS
    98. Bodyak, ND; Nekhaeva, E; Wei, JY; Khrapko, K
      Quantification and sequencing of somatic deleted mtDNA in single cells: evidence for partially duplicated mtDNA in aged human tissues

      HUMAN MOLECULAR GENETICS
    99. Reynaud, CA; Frey, S; Aoufouchi, S; Faili, A; Bertocci, B; Dahan, A; Flatter, E; Delbos, F; Storck, S; Zober, C; Weill, JC
      Transcription, beta-like DNA polymerases and hypermutation

      PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY OF LONDON SERIES B-BIOLOGICAL SCIENCES
    100. Lofberg, M; Lindholm, H; Naveri, H; Majander, A; Suomalainen, A; Paetau, A; Sovijarvi, A; Harkonen, M; Somer, H
      ATP, phosphocreatine and lactate in exercising muscle in mitochondrial disease and McArdle's disease

      NEUROMUSCULAR DISORDERS


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Documento generato il 18/01/21 alle ore 00:14:28