People / Staff

Maria del Carmen Fons Estupiña

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Publications

  • Pijuan-Marquilles J, Rodríguez-Sanz M, Natera-de Benito D, Ortez-Gonzalez CI, Altimir A, Osuna-Lopez M, Roura-Llerda M, Ugalde M, Van de Vondel L, Reina-Castillon J, Fons-Estupina C, Benítez R, Nascimento-Osorio A, Hoenicka J and Palau F.

    Translational Diagnostics An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases

    JOURNAL OF MOLECULAR DIAGNOSTICS . 23(1): 71-90. Number of citations: 9

    [doi:10.1016/j.jmoldx.2020.10.006]

  • Balestrini S, Mikati MA, Garcia-Roves RA, Carboni M, Hunanyan AS, Kherallah B, McLean M, Prange L, De Grandis E, Gagliardi A, Pisciotta L, Stagnaro M, Veneselli E, Campistol-Plana J, Fons-Estupina C, Pias-Peleteiro L, Brashear A, Miller C, Samoes R, Brankovic V, Padiath QS, Potic A, Pilch J, Vezyroglou K, Bye AME, Davis AM, Ryan MM, Semsarian C, Hollingsworth G, Scheffer IE, Granata T, Nardocci N, Ragona F, Arzimanoglou A, Panagiotakaki E, Carrilho I, Zucca C, Novy J, Dziezyc K, Parowicz M, Mazurkiewicz-Beldzinska M, Weckhuysen S, Pons R, Groppa S, Sinden DS, Pitt GS, Tinker A, Ashworth M, Michalak Z, Thom M, Cross JH, Vavassori R, Kaski JP and Sisodiya SM.

    Cardiac phenotype in ATP1A3-related syndromes A multicenter cohort study

    Neurology . 95(21): 2866-2879. Number of citations: 23

    [doi:10.1212/WNL.0000000000010794]

  • Cristofoli F, Moss T, Moore HW, Devriendt K, Flanagan-Steet H, May M, Jones J, Roelens F, Fons-Estupina C, Fernández-López A, Martorell-Sampol L, Selicorni A, Maitz S, Vitiello G, Van der Hoeven G, Skinner SA, Bollen M, Vermeesch JR, Steet R and Van Esch H.

    De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity

    AMERICAN JOURNAL OF HUMAN GENETICS . 107(4): 753-762. Number of citations: 30

    [doi:10.1016/j.ajhg.2020.08.015]

  • Lazo PA, García JL, Gómez-Puertas P, Marcos-Alcalde Í, Arjona-Fernandez C, Villarroel A, González-Sarmiento R and Fons-Estupina C.

    Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 21(12): . Number of citations: 6

    [doi:10.3390/ijms21124447]

  • Casas-Alba D, Clotet J, Inarejos E, Jou-Munoz C, Fons-Estupina C and Molera C.

    Broadening the spectrum of neonatal hemochromatosis

    JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE . 33(6): 1024-1026. Number of citations: 6

    [doi:10.1080/14767058.2018.1506442]

  • Verdura E, Fons-Estupina C, Schlüter A, Ruiz M, Fourcade S, Casasnovas C, Castellano A and Pujol A.

    Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia

    JOURNAL OF MEDICAL GENETICS . 57(2): 132-137. Number of citations: 32

    [doi:10.1136/jmedgenet-2019-106373]

  • François C, Ripollés P, Ferreri L, Muchart-Lopez J, Sierpowska J, Fons-Estupina C, Solé J, Rebollo M, Zatorre RJ, García-Alix A, Bosch-Galceran L and Rodriguez-Fornells A.

    RIGHT STRUCTURAL AND FUNCTIONAL REORGANIZATION IN 4-YEAR-OLD CHILDREN WITH PERINATAL ARTERIAL ISCHEMIC STROKE PREDICT LANGUAGE PRODUCTION

    eNeuro . 6(4): . Number of citations: 21

    [doi:10.1523/ENEURO.0447-18.2019]

  • Revilla Orías MD, Xenia Alonso, Campistol-Plana J, Macaya A, Escofet C and Fons-Estupina C.

    Epilepsy in children with congenital hemiparesis secondary to perinatal ictus

    MEDICINA-BUENOS AIRES . 79: 6-9.

  • Ulate-Campos A, Petanas-Argemi J, Rebollo M, Jou-Munoz C, Sierra-March C, Armstrong-Moron J and Fons-Estupina C.

    X-linked adrenoleukodystrophy with an atypical radiological pattern

    REVISTA DE NEUROLOGIA . 66(7): 237-240. Number of citations: 4

    [doi:10.33588/rn.6607.2017498]

  • Fons-Estupina C.

    Neonatal onset of epileptic syndromes. Causations and diagnostic process

    REVISTA DE NEUROLOGIA . 66: 61-69.