Publications (29) Emilia Maneiro Pampín publications

2022

  1. Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree

    Scientific Reports, Vol. 12, Núm. 1

2021

  1. A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome

    npj Genomic Medicine, Vol. 6, Núm. 1

2020

  1. A Pathogenic Galactosidase A Mutation Coexisting With an MYBPC3 Mutation in a Female Patient With Hypertrophic Cardiomyopathy

    Canadian Journal of Cardiology, Vol. 36, Núm. 9, pp. 1554.e1-1554.e3

2018

  1. A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome

    BioMed Research International, Vol. 2018

2015

  1. Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain

    Heart, Vol. 101, Núm. 13, pp. 1047-1053

2013

  1. Nitric oxide compounds have different effects profiles on human articular chondrocyte metabolism

    Arthritis Research and Therapy, Vol. 15, Núm. 5

2010

  1. Disease: Cardiomyopathy, hypertrophic

    Human Genetics

  2. Disease: Cardiomyopathy, hypertrophic

    Human Genetics

  3. Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy

    BMC Medical Genetics, Vol. 11, Núm. 1

2009

  1. Living in Vulcan's forge: Algal adaptation to stressful geothermal ponds on Vulcano Island (southern Italy) as a result of pre-selective mutations

    Phycological Research, Vol. 57, Núm. 2, pp. 111-117

  2. Microalgae fiber optic biosensors for herbicide monitoring using sol-gel technology

    Biosensors and Bioelectronics, Vol. 24, Núm. 12, pp. 3538-3543

2008

  1. Mass wildlife mortality due to cyanobacteria in the Doñana National Park, Spain

    Veterinary Record, Vol. 162, Núm. 10, pp. 317-318

2007

  1. How eukaryotic algae can adapt to the Spain's Rio Tinto: A neo-Darwinian proposal for rapid adaptation to an extremely hostile ecosystem

    New Phytologist, Vol. 175, Núm. 2, pp. 334-339

  2. Microalgal fiber-optic biosensors for water quality monitoring

    Proceedings of SPIE - The International Society for Optical Engineering

  3. Resistance to glyphosate in the cyanobacterium Microcystis aeruginosa as result of pre-selective mutations

    Evolutionary Ecology, Vol. 21, Núm. 4, pp. 535-547

2006

  1. Adaptation of cyanobacteria and microalgae to extreme environmental changes derived from anthropogenic pollution

    Limnetica, Vol. 25, Núm. 1-2, pp. 403-410

  2. Harmful algal blooms, red tides and human health: Diarrhetic shellfish poisoning and colorectal cancer

    Anales de la Real Academia Nacional de Farmacia, Vol. 72, Núm. 3, pp. 391-408

2005

  1. Cell therapy: A therapeutic alternative to treat focal cartilage lesions

    Transplantation Proceedings

  2. Effect of nitric oxide on mitochondrial respiratory activity of human articular chondrocytes

    Annals of the Rheumatic Diseases, Vol. 64, Núm. 3, pp. 388-395

  3. Phosphatase-1 and -2A inhibition modulates apoptosis in human osteoarthritis chondrocytes independently of nitric oxide production

    Annals of the Rheumatic Diseases, Vol. 64, Núm. 7, pp. 1079-1082