Browsing by Author "Serra Juhé, Clara, 1984-"

Sort by: Order: Results:

  • Armengol i Dulcet, Lluís; Nevado, Julián; Serra Juhé, Clara, 1984-; Mediano, Carmen; García Santiago, Fe Amalia; García Aragonés, Manel; Villa Marcos, Olaya; Mansilla, Elena; Preciado, Cristina; Fernández, Luis; Mori, María Ángeles; García Pérez, Lidia; Lapunzina, Pablo Daniel; Pérez Jurado, Luis Alberto (Springer, 2012)
    Novel methodologies for detection of chromosomal abnormalities have been made available in the recent years but their clinical utility in prenatal settings is still unknown. We have conducted a comparative study of currently ...
  • Sailani, M. Reza; Rabionet, Kelly; Serra Juhé, Clara, 1984-; Pérez Jurado, Luis Alberto; Estivill, Xavier, 1955-; Antonarakis, Stylianos E. (Cold Spring Harbor Laboratory Press (CSHL Press), 2013)
    Congenital heart defect (CHD) occurs in 40% of Down syndrome (DS) cases. While carrying three copies of chromosome 21 increases the risk for CHD, trisomy 21 itself is not sufficient to cause CHD. Thus, additional genetic ...
  • Serra Juhé, Clara, 1984-; Rodríguez Santiago, Benjamín; Cuscó Martí, Ivon, 1973-; Vendrell, Teresa; Camats, Núria; Torán, Núria; Pérez Jurado, Luis Alberto (Public Library of Science (PLoS), 2012)
    Background: Congenital malformations are present in approximately 2–3% of liveborn babies and 20% of stillborn fetuses. The mechanisms underlying the majority of sporadic and isolated congenital malformations are poorly ...
  • Paneque, Milena; Moldovan, Ramona; Cordier, Christophe; Serra Juhé, Clara, 1984-; Feroce, Irene; Lambert, Debby; Bjørnevoll, Inga; Skirton, Heather (Nature Publishing Group, 2016)
  • Serra Juhé, Clara, 1984-; Cuscó Martí, Ivon, 1973-; Homs Raubert, Aïda, 1983-; Flores, Raquel; Torán, Núria; Pérez Jurado, Luis Alberto (Taylor & Francis (Routledge), 2015)
    Congenital heart defects represent the most common malformation at birth, occurring also in ∼50% of individuals with Down syndrome. Congenital heart defects are thought to have multifactorial etiology, but the main causes ...
  • Serra Juhé, Clara, 1984- (Universitat Pompeu Fabra, 2012-10-20)
    Mechanisms underlying congenital malformations are largely unknown despite its high incidence, affecting 2-3% of liveborn infants. A broader knowledge about the causes of birth defects would provide valuable information ...
  • Dauber, Andrew; Serra Juhé, Clara, 1984-; Pérez Jurado, Luis Alberto (Wiley, 2016)
    Mutations in multiple genes of the growth hormone/IGF-I axis have been identified in syndromes marked by growth failure. However, no pathogenic human mutations have been reported in the six high-affinity IGF-binding proteins ...
  • Serra Juhé, Clara, 1984-; Martos Moreno, Gabriel A.; Bou de Pieri, Francesc; Flores Peirats, Raquel; González Ruiz, Juan Ramón; Rodríguez Santiago, Benjamín; Argente, Jesús; Pérez Jurado, Luis Alberto (Public Library of Science (PLoS), 2017)
    Obesity is a multifactorial disorder with high heritability (50–75%), which is probably higher in early-onset and severe cases. Although rare monogenic forms and several genes and regions of susceptibility, including copy ...
  • Pérez Jurado, Luis Alberto; Granell, Susana; Serra Juhé, Clara, 1984-; Martos Moreno, Gabriel A.; Díaz, Francisca; Baldini, Giulia; Argente, Jesús (Public Library of Science (PLoS), 2012)
    Heterozygous mutations in the melanocortin-4 receptor (MC4R) gene represent the most frequent cause of monogenic obesity in humans. MC4R mutation analysis in a cohort of 77 children with morbid obesity identified previously ...
  • Codina i Solà, Marta, 1988-; Pérez Jurado, Luis Alberto; Cuscó Martí, Ivon, 1973-; Serra Juhé, Clara, 1984- (Springer, 2017)
    Although a genetic evaluation can identify the etiology in 15-30% of individuals with autism spectrum disorder, several studies show an underuse of genetic services by affected families. We have explored the access to ...
  • Abacan, MaryAnn; Serra Juhé, Clara, 1984-; Wicklund, Catherine (Nature Research, 2019)
    The profession of genetic counseling (also called genetic counselling in many countries) began nearly 50 years ago in the United States, and has grown internationally in the past 30 years. While there have been many papers ...