Mostrando recursos 1 - 20 de 599

  1. Genética molecular de la deficiencia eritrocitaria humana en piruvato quinasa

    Garrido Pertierra, Amando
    La piruvato quinasa (ATP: piruvato 5- O- fosfotransferasa; EC 2.7.1.40) cataliza la transformación de fosfoenolpiruvato y ADP en piruvato y ATP. Esta enzima, que aparece en todas las células vivas, es clave en la ruta central del metabolismo de los carbohidratos. En la especie humana han sido caracterizados dos genes diferentes: el PK-M que principalmente, codifica las isozimas del tejido musucular y de los leucocitos y la PK-LR que codifica las isozimas del hígado y de los eritrocitos. La deficiencia en piruvato quinasa, debido a una mutación en el gen PK-LR, origina alteraciones, únicamente, en el metabolismo de los eritrocitos,...

  2. Genética humana y derecho europeo

    Borrillo, Daniel
    Analisis de la regulacion juridica del desarrollo en materia de genética humana

  3. Genetic analysis of human remains found in two eighteenth century Yakut graves at At-Dabaan

    Ricaut, François-Xavier; Kolodesnikov, S.; Alekseev, Anatoly N; Crubézy, Eric; Keyser-Tracqui, Christine; Ludes, Bertrand

  4. Genetic analysis of human remains from a double inhumation in a frozen kurgan in Kazakhstan (Berel site, Early 3rd Century BC)

    Clisson, Isabelle; Crubézy, Eric; Francfort, Hp; Keyser-Tracqui, Christine; Ludes, Bertrand; Samashev, Z.

  5. Surface plasmon resonance imaging (SPRI) system and real-time monitoring of DNA biochip for human genetic mutation diagnosis of DNA amplified samples

    Mannelli, Ilaria; Courtois, Virginie; Lecaruyer, Pierre; Roger, Gisèle; Millot, Marie-Claude; Goossens, Michel; Canva, Michael
    International audience

  6. A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2

    Fedorenko, Evelina; Morgan, Angela; Murray, Elizabeth; Mei, Cristina; Tager-Flusberg, Helen; Fisher, Simon E; Cardinaux, Anne; Kanwisher, Nancy
    Individuals with heterozygous 16p11.2 deletions reportedly suffer from a variety of difficulties with speech and language. Indeed, recent copy-number variant screens of children with childhood apraxia of speech (CAS), a specific and rare motor speech disorder, have identified three unrelated individuals with 16p11.2 deletions. However, the nature and prevalence of speech and language disorders in general, and CAS in particular, is unknown for individuals with 16p11.2 deletions. Here we took a genotype-first approach, conducting detailed and systematic characterization of speech abilities in a group of 11 unrelated children ascertained on the basis of 16p11.2 deletions. To obtain the most precise...

  7. A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2

    Fedorenko, Evelina; Morgan, Angela; Murray, Elizabeth; Mei, Cristina; Tager-Flusberg, Helen; Fisher, Simon E; Cardinaux, Anne; Kanwisher, Nancy
    Individuals with heterozygous 16p11.2 deletions reportedly suffer from a variety of difficulties with speech and language. Indeed, recent copy-number variant screens of children with childhood apraxia of speech (CAS), a specific and rare motor speech disorder, have identified three unrelated individuals with 16p11.2 deletions. However, the nature and prevalence of speech and language disorders in general, and CAS in particular, is unknown for individuals with 16p11.2 deletions. Here we took a genotype-first approach, conducting detailed and systematic characterization of speech abilities in a group of 11 unrelated children ascertained on the basis of 16p11.2 deletions. To obtain the most precise...

  8. Anisotropic Isolation by Distance: The Main Orientations of Human Genetic Differentiation.

    Jay, Flora; Sjödin, Per; Jakobsson, Mattias; Blum, Michael G B
    International audience

  9. Determination of genetic relatedness from low-coverage human genome sequences using pedigree simulations

    Martin, Michael; Jay, Flora; Castellano, Sergi; Slatkin, Montgomery
    International audience

  10. Determination of genetic relatedness from low-coverage human genome sequences using pedigree simulations

    Martin, Michael; Jay, Flora; Castellano, Sergi; Slatkin, Montgomery
    International audience

  11. Determination of genetic relatedness from low-coverage human genome sequences using pedigree simulations

    Martin, Michael; Jay, Flora; Castellano, Sergi; Slatkin, Montgomery
    International audience

  12. Envejecimiento y efectos de la hipoxia intermitente crónica sobre tumorigénesis espontánea en ratón

    Gallego-Martin, Teresa; Obeso, Ana
    Association between sleep disturbances and frequency of cancer has long been suspected. However, how cancer may take advantage of sleep disturbances is a field of many hypothesis and few facts. Recent studies have evidenced that the constitutive elements of obstructive sleep apnea (OSA), short term chronic intermittent hypoxia (CIH) and sleep disruption, augment growth and metastasis rate of implanted tumors in mice (Almendros et al, 2012a; 2012b; 2013; 2014a; Hakim et al., 2014). These studies stimulated retrospective studies in OSA patients which, with some discrepancies, have reported an association between severity of OSA and cancer incidence/mortality (Nieto et al., 2012;...

  13. Meager genetic variability of the human malaria agent Plasmodium vivax

    Leclerc, M.C.; Durand, P.; Gauthier, C.; Patot, S.; Billotte, N.; Menegon, M.; Severini, C.; Ayala, F.J.; Renaud, F.

  14. UMD (Universal Mutation Database): 2005 update.

    Béroud, Christophe; Hamroun, Dalil; Collod-Béroud, Gwenaëlle; Boileau, Catherine; Soussi, Thierry; Claustres, Mireille
    With the completion of the Human Genome Project, our vision of human genetic diseases has changed. The cloning of new disease-causing genes can now be performed in silico, and thousands of mutations are being identified in diagnostic and research laboratories yearly. Knowledge about these mutations and their association with clinical and biological data is essential for clinicians, geneticists, and researchers. To collect and analyze these data, we developed a generic software called Universal Mutation Databases (UMD) to create locus-specific databases. Here we report the new release (September 2004) of this freely available tool (www.umd.be), which allows the creation of LSDBs...

  15. Secuenciación masiva como prueba de segundo nivel en programas de cribado neonatal

    Segura-Puimedon, Maria; Rodríguez, Jairo; Alonso, Maria Jesús; Fernández Carvajal, Mª Isabel; Pérez-Jurado, Luis Alberto
    Resumen del trabajo presentado al I Congreso Interdisciplinar en Genética Humana, celebrado en Madrid del 25 al 28 de abril de 2017.-- et al.

  16. Caracterización funcional de variantes candidatas de splicing en genes de susceptibilidad mediante minigenes híbridos: PALB2

    Valenzuela, Alberto; Fraile-Bethencourt, Eugenia; Díez-Gómez, Beatriz; Martínez-Delgado, Beatriz; Villate Bejarano, Olatz; Tejada, María Isabel; Acedo, Alberto; Velasco, Eladio
    Resumen del trabajo presentado al I Congreso Interdisciplinar en Genética Humana, celebrado en Madrid del 25 al 28 de abril de 2017.

  17. BRCA 2 mis-splicing: regulación de los exones 17 y 18

    Fraile-Bethencourt, Eugenia; Díez-Gómez, Beatriz; Valenzuela, Alberto; Acedo, Alberto; Sanz, David J.; Goina, Elisa; Buratti, Emanuele; Velasco, Eladio
    Resumen del trabajo presentado al I Congreso Interdisciplinar en Genética Humana, celebrado en Madrid del 25 al 28 de abril de 2017.

  18. Caracterización clínica y molecular de familias con poliposis atenuada familiar (PAF). Defectos en genes de ruta BER. Correlación genotipo-fenotipo

    Tascón, Mónica; Esteban Cardeñosa, Eva; Infante, Mar; Velázquez Pérez, Carolina; Lastra, Enrique; Abella Santos, Luis Enrique; Martínez Martín, N.; Hernández, Lara; Durán, Mercedes
    Resumen del trabajo presentado al I Congreso Interdisciplinar en Genética Humana, celebrado en Madrid del 25 al 28 de abril de 2017.

  19. Una mutación missense de BRIP1 altera el splicing y provoca la exclusión del exón anterior. Implicaciones en el consejo genético al paciente

    Velázquez Pérez, Carolina; Durán, Mercedes; Esteban Cardeñosa, Eva; Abella Santos, Luis Enrique; Hernández, Lara; Martínez Martín, N.; Infante, Mar
    Resumen del trabajo presentado al I Congreso Interdisciplinar en Genética Humana, celebrado en Madrid del 25 al 28 de abril de 2017.

  20. Efectividad de la combinación de antioxidantes, el ácido ascórbico y el alfa-tocoferol, sobre los problemas cognitivos en portadoras del síndrome X-fragil

    Diego-Otero, Yolanda de; Quintero-Navarro, Carolina; Calvo-Medina, Rocio; Fernández Carvajal, Mª Isabel; Pérez-Costillas, Lucia
    Resumen del póster presentado al I Congreso Interdisciplinar en Genética Humana, celebrado en Madrid del 25 al 28 de abril de 2017.-- et al.

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