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

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  • Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis
    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 ...
  • The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome
    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 ...
  • Contribution of rare copy number variants to isolated human malformations
    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 ...
  • Current status of genetic counselling for rare diseases in Spain
    Álvaro-Sánchez, Sara; Abreu-Rodríguez, Irene; Abulí, Anna; Serra Juhé, Clara, 1984-; Garrido-Navas, Maria del Carmen (MDPI, 2021)
    Genetic Counselling is essential for providing personalised information and support to patients with Rare Diseases (RD). Unlike most other developed countries, Spain does not recognize geneticists or genetic counsellors ...
  • Development of a registration system for genetic counsellors and nurses in health-care services in Europe.
    Paneque, Milena; Moldovan, Ramona; Cordier, Christophe; Serra Juhé, Clara, 1984-; Feroce, Irene; Lambert, Debby; Bjørnevoll, Inga; Skirton, Heather (Nature Publishing Group, 2016)
  • DNA methylation abnormalities in congenital heart disease
    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 ...
  • Genetic approach to unravel the molecular basis of severe early-onset obesity
    Bou de Pieri, Francesc, 1992- (Universitat Pompeu Fabra, 2020-12-17)
    Tot i que l’obesitat és clarament deguda a un desequilibri entre la ingesta d’energia i la despesa, i està molt associada a l’estil de vida, es considera una malaltia multifactorial amb una alta heretabilitat (50-75%), ...
  • Genetic, genomic and epigenetic alterations in congenital malformations : implications in genetic counseling
    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 ...
  • Heterozygous rare genetic variants in non-syndromic early-onset obesity
    Serra Juhé, Clara, 1984-; Martos Moreno, Gabriel A.; Bou de Pieri, Francesc, 1992-; Flores, Raquel; Chowen, Julie A.; Pérez Jurado, Luis Alberto; Argente, Jesús (Nature Research, 2020)
    BACKGROUND: Obesity is a very heterogeneous disorder at both the clinical and molecular levels and with high heritability. Several monogenic forms and genes with strong effects have been identified for non-syndromic severe ...
  • Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability
    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 ...
  • Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants
    Serra Juhé, Clara, 1984-; Martos Moreno, Gabriel A.; Bou de Pieri, Francesc, 1992-; 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 ...
  • A novel melanocortin-4 receptor mutation MC4R-P272L associated with severe obesity has increased propensity to be ubiquitinated in the ER in the face of correct folding
    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 ...
  • Provision of genetic services for autism and its impact on Spanish families
    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 ...
  • The Global State of the Genetic Counseling Profession
    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 ...