Equip Humà

Maria del Carmen Fons Estupiña

Buscador de publicacions

Publicacions

  • García-Hernández JL, Corchete LA, Marcos-Alcalde Í, Gómez-Puertas P, Fons-Estupina C and Lazo PA.

    Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome.

    HUMAN GENOMICS . 15(1): 11-11. Nº de cites: 2

    [doi:10.1186/s40246-021-00309-4]

  • 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. Nº de cites: 4

    [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. Nº de cites: 16

    [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. Nº de cites: 25

    [doi:10.1016/j.ajhg.2020.08.015]

  • 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. Nº de cites: 5

    [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. Nº de cites: 22

    [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): . Nº de cites: 14

    [doi:10.1523/ENEURO.0447-18.2019]

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

    Epilepsy in children with congenital hemiparesis secondary to perinatal ictus

    Medicina . 79(s3): 6-9.

  • Fons-Estupina C.

    Sindromes epilepticos de inicio neonatal. Etiologias y proceso diagnostico.

    REVISTA DE NEUROLOGIA . 66(s02): 61-69.

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

    Adrenoleucodistrofia ligada al X con patron radiologico atipico.

    REVISTA DE NEUROLOGIA . 66(7): 237-240. Nº de cites: 3

    [doi:10.33588/rn.6607.2017498]