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Wyświetlanie 1-11 z 11
Tytuł :
Functional impact of global rare copy number variation in autism spectrum disorders.
Autorzy :
Pinto, Dalila
Pagnamenta, Alistair T.
Klei, Lambertus
Regan, Regina
Conroy, Judith
Casey, Jillian
Green, Andrew
Segurado, Ricardo
Shah, Naisha
Ennis, Sean
Pokaż więcej
Temat :
MESH: Europe
MESH: Gene Dosage
MESH: Cell Movement
Child Development Disorders, Pervasive - Genetics - Pathology - Physiopathology
[SDV.GEN]Life Sciences [q-bio]/Genetics
MESH: Cytoprotection
General
MESH: Child
Gene Dosage - Genetics
Genetic Predisposition To Disease - Genetics
Spectrum disorders
Case-Control Studies
MESH: Child Development Disorders, Pervasive
Cytoprotection
Signal Transduction
Social Behavior
MESH: Genetic Predisposition to Disease
MESH: Humans
MESH: Genome-Wide Association Study
Autism
Perturbações do Desenvolvimento Infantil e Saúde Mental
MESH: Case-Control Studies
MESH: DNA Copy Number Variations
mental disorders
MESH: Social Behavior
Europe - Ethnology
Cell Movement
Genome-Wide Association Study
Dna Copy Number Variations - Genetics
MESH: Signal Transduction
Humans
Child
Źródło :
Pinto, D, Pagnamenta, A T, Klei, L, Anney, R, Merico, D, Regan, R, Conroy, J, Magalhaes, T R, Correia, C, Abrahams, B S, Almeida, J, Bacchelli, E, Bader, G D, Bailey, A J, Baird, G, Battaglia, A, Berney, T, Bolshakova, N, Bölte, S, Bolton, P F, Bourgeron, T, Brennan, S, Brian, J, Bryson, S E, Carson, A R, Casallo, G, Casey, J, Chung, B H Y, Cochrane, L, Corsello, C, Crawford, E L, Crossett, A, Cytrynbaum, C, Dawson, G, De Jonge, M, Delorme, R, Drmic, I, Duketis, E, Duque, F, Estes, A, Farrar, P, Fernandez, B A, Folstein, S E, Fombonne, E, Freitag, C M, Gilbert, J, Gillberg, C, Glessner, J T, Goldberg, J, Green, A, Green, J, Guter, S J, Hakonarson, H, Heron, E A, Hill, M, Holt, R, Howe, J L, Hughes, G, Hus, V, Igliozzi, R, Kim, C, Klauck, S M, Kolevzon, A, Korvatska, O, Kustanovich, V, Lajonchere, C M, Lamb, J A, Laskawiec, M, Leboyer, M, Le Couteur, A, Leventhal, B L, Lionel, A C, Liu, X Q, Lord, C, Lotspeich, L, Lund, S C, Maestrini, E, Mahoney, W, Mantoulan, C, Marshall, C R, McConachie, H, McDougle, C J, McGrath, J, McMahon, W M, Merikangas, A, Migita, O, Minshew, N J, Mirza, G K, Munson, J, Nelson, S F, Noakes, C, Noor, A, Nygren, G, Oliveira, G, Papanikolaou, K, Parr, J R, Parrini, B, Paton, T, Pickles, A, Pilorge, M, Piven, J, Ponting, C P, Posey, D J, Poustka, A, Poustka, F, Prasad, A, Ragoussis, J, Renshaw, K, Rickaby, J, Roberts, W, Roeder, K, Roge, B, Rutter, M L, Bierut, L J, Rice, J P, Salt, J, Sansom, K, Sato, D, Segurado, R, Sequeira, A F, Senman, L, Shah, N, Sheffield, V C, Soorya, L, Sousa, I, Stein, O, Sykes, N, Stoppioni, V, Strawbridge, C, Tancredi, R, Tansey, K, Thiruvahindrapduram, B, Thompson, A P, Thomson, S, Tryfon, A, Tsiantis, J, Van Engeland, H, Vincent, J B, Volkmar, F, Wallace, S, Wang, K, Wang, Z, Wassink, T H, Webber, C, Weksberg, R, Wing, K, Wittemeyer, K, Wood, S, Wu, J, Yaspan, B L, Zurawiecki, D, Zwaigenbaum, L, Buxbaum, J D, Cantor, R M, Cook, E H, Coon, H, Cuccaro, M L, Devlin, B, Ennis, S, Gallagher, L, Geschwind, D H, Gill, M, Haines, J L, Hallmayer, J, Miller, J, Monaco, A P, Nurnberger, J I, Paterson, A D, Pericak-Vance, M A, Schellenberg, G D, Szatmari, P, Vicente, A M, Vieland, V J, Wijsman, E M, Scherer, S W, Sutcliffe, J S & Betancur, C 2010, ' Functional impact of global rare copy number variation in autism spectrum disorders ', Nature, vol. 466, no. 7304, pp. 368-372 . https://doi.org/10.1038/nature09146
Nature, Nature Publishing Group, 2010, 466 (7304), pp.368-72. ⟨10.1038/nature09146⟩
Opis pliku :
application/octet-stream
Tytuł :
Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms.
Autorzy :
Ibáñez, Pablo
Lesage, Suzanne
Janin, Sabine
Lohmann, Ebba
Durif, Frank
Destée, Alain
Bonnet, Anne-Marie
Brefel-Courbon, Christine
Heath, Simon
Zelenika, Diana
Agid, Yves
Dürr, Alexandra
Brice, Alexis
Pollak, Pierre
French Parkinson's Disease Genetics Study Group
Pokaż więcej
Temat :
Chromosome Breakage
Gene Dosage/genetics
Brain Chemistry/genetics
MESH: Male
MESH: Aged
MESH: Aged, 80 and over
MESH: Genes, Dominant
Microsatellite Repeats/genetics
MESH: Gene Dosage
DNA Repeat Expansion/genetics
ddc:616.8
MESH: DNA Repeat Expansion
MESH: Parkinsonian Disorders
Genes, Dominant/genetics
MESH: Genotype
MESH: DNA Mutational Analysis
Oligonucleotide Array Sequence Analysis
MESH: Female
Parkinsonian Disorders/genetics/metabolism/physiopathology
MESH: Adult
Female
MESH: Chromosome Breakage
MESH: Genetic Predisposition to Disease
Aged
Alpha-Synuclein/genetics
MESH: Genetic Testing
MESH: Humans
Middle Aged
Genotype
Genetic Predisposition to Disease/genetics
MESH: Polymorphism, Single Nucleotide
Genetic Testing
MESH: Middle Aged
MESH: Oligonucleotide Array Sequence Analysis
Haplotypes/genetics
DNA Mutational Analysis
MESH: Microsatellite Repeats
MESH: alpha-Synuclein
MESH: Brain Chemistry
Adult
Aged, 80 and over
Humans
Male
MESH: Haplotypes
Polymorphism, Single Nucleotide/genetics
Źródło :
Archives of Neurology, Vol. 66, No 1 (2009) pp. 102-108
Archives of Neurology -Chigago
Archives of Neurology -Chigago-, American Medical Association, 2009, 66 (1), pp.102-8. ⟨10.1001/archneurol.2008.555⟩
    Wyświetlanie 1-11 z 11

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