Browsing by Author "Lapunzina, Pablo Daniel"

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  • A six-attribute classification of genetic mosaicism
    Martínez-Glez, Víctor; Tenorio Castaño, Jair; Nevado, Julián; Gordo, Gema; Rodríguez-Laguna, Lara; Feito, Marta; Lucas, Raúl de; Pérez Jurado, Luis Alberto; Ruiz Pérez, Víctor L.; Torrelo, Antonio; Spinner, Nancy B.; Happle, Rudolf; Biesecker, Leslie G.; Lapunzina, Pablo Daniel (Nature Research, 2020)
    Mosaicism denotes an individual who has at least two populations of cells with distinct genotypes that are derived from a single fertilized egg. Genetic variation among the cell lines can involve whole chromosomes, structural ...
  • A view on clinical genetics and genomics in Spain: of challenges and opportunities.
    Pàmpols, Teresa; Ramos, Feliciano J.; Lapunzina, Pablo Daniel; Gozalo-Salellas, Ignasi; Pérez Jurado, Luis Alberto; Pujol, Aurora, 1968- (Willey, 2016)
    Historical and social perspectives, together with economic context, are essential to comprehend and appreciate the current status of any discipline. This is particularly true for fields relying on technological advances ...
  • CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
    Luque, Juan; Mendes, Ingrid; Gómez, Beatriz; Morte, Beatriz; López de Heredia, Miguel de; Herreras, Enrique; Corrochano, Virginia; Bueren, Juan; Gallano, Pía; Artuch, Rafael; Fillat i Fonts, Cristina; Pérez Jurado, Luis Alberto; Montoliu, Lluis; Carracedo, Ángel; Millán, José M.; Webb, Susan M.; Palau, Francesc; CIBERER Network; Lapunzina, Pablo Daniel (Wiley, 2022)
    CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). ...
  • 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 ...
  • Schuurs-Hoeijmakers syndrome (PACS1 neurodevelopmental disorder): seven novel patients and a review
    Tenorio Castaño, Jair; Pérez Jurado, Luis Alberto; Lapunzina, Pablo Daniel (MDPI, 2021)
    Schuurs-Hoeijmakers syndrome (SHMS) or PACS1 Neurodevelopmental disorder is a rare disorder characterized by intellectual disability, abnormal craniofacial features and congenital malformations. SHMS is an autosomal dominant ...
  • Variability in Phelan-McDermid syndrome in a cohort of 210 individuals
    Nevado, Julián; Pérez Jurado, Luis Alberto; Lapunzina, Pablo Daniel; Spanish PMS Working Group (Frontiers, 2022)
    Phelan-McDermid syndrome (PMS, OMIM# 606232) results from either different rearrangements at the distal region of the long arm of chromosome 22 (22q13.3) or pathogenic sequence variants in the SHANK3 gene. SHANK3 codes for ...