Personas / Equipo Humano

Mercedes Serrano Gimaré

Buscador de publicaciones

Publicaciones

  • García-García A, Buendia Arellano M, Deyà-Martinez A, Lozano-Blasco J, Serrano M, Van Den Rym A, García-Solis B, Esteve-Solé A, Luo Y, Vlagea A, Solanich X, Fisher MR, Lyons JJ, de Diego RP and Alsina L.

    Novel PGM3 compound heterozygous variants with IgE-related dermatitis, lymphopenia, without syndromic features

    PEDIATRIC ALLERGY AND IMMUNOLOGY . 32(3): 566-575. Nº de citas: 4

    [doi:10.1111/pai.13398]

  • Casas-Alba D, López-Sala L, Pérez M, Marí-Vico R, Bolasell M, Martinez-Monseny T, Muchart-Lopez J, Fernández-Fernández JM, Martorell-Sampol L and Serrano M.

    Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 185(1): 256-260. Nº de citas: 2

    [doi:10.1002/ajmg.a.61939]

  • Gámez A, Serrano M, Gallego D, Vilas A and Pérez-Dueñas B.

    New and potential strategies for the treatment of PMM2-CDG.

    BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS . 1864(11): 129686-129686. Nº de citas: 19

    [doi:10.1016/j.bbagen.2020.129686]

  • López-Gálvez R, de la Morena-Barrio ME, López-Lera A, Pathak M, Miñano A, Serrano M, Borgel D, Roldán V, Vicente V, Emsley J and Corral J.

    Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway

    ORPHANET JOURNAL OF RARE DISEASES . 15(1): 280-280. Nº de citas: 9

    [doi:10.1186/s13023-020-01564-9]

  • Izquierdo-Serra M, Fernández-Fernández JM and Serrano M.

    RareCACNA1Amutations leading to congenital ataxia

    PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY . 472(7): 791-809. Nº de citas: 14

    [doi:10.1007/s00424-020-02396-z]

  • Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol-Plana J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF, SOGRI Consortium and Lapunzina P.

    Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

    EUROPEAN JOURNAL OF HUMAN GENETICS . 28(4): 469-479. Nº de citas: 19

    [doi:10.1038/s41431-019-0485-3]

  • Ruiz-Llobet A, Isola I, Gassiot S, Català-Temprano A, Díaz-Ricart M, Martinez-Monseny T, Serrano M and Berrueco R.

    Platelet Dysfunction in Noonan and 22q11.2 Deletion Syndromes in Childhood

    THROMBOSIS AND HAEMOSTASIS . 120(3): 457-465. Nº de citas: 3

    [doi:10.1055/s-0040-1701239]

  • Parisi C, Candela-Cantó SA, Serrano M, Català-Temprano A, Aparicio J and Hinojosa J.

    Life-threatening secondary hemophagocytic lymphohistiocytosis following vagal nerve stimulator infection in a child with CHD2 myoclonic encephalopathy: a case report

    CHILDS NERVOUS SYSTEM . 36(11): 2851-2856. Nº de citas: 2

    [doi:10.1007/s00381-020-04558-x]

  • Urreizti R, Lopez-Martin E, Martinez-Monseny T, Pujadas M, Castilla-Vallmanya L, Pérez-Jurado LA, Serrano M, Natera-de Benito D, Martínez-Delgado B, Posada-de-la-Paz M, Alonso J, Marin-Reina P, O'Callaghan-Gordo M, Grinberg-Vaisman DR, Bermejo-Sánchez E and Balcells S.

    Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

    ORPHANET JOURNAL OF RARE DISEASES . 15(1): 44-44. Nº de citas: 16

    [doi:10.1186/s13023-020-1317-9]

  • Martinez-Monseny T, Casas-Alba D, Arjona-Fernandez C, Bolasell M, Casano-Sancho P, Muchart-Lopez J, Ramos F, Martorell-Sampol L, Palau F, García-Alix A and Serrano M.

    Okur-Chung neurodevelopmental syndrome in a patient from Spain

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 182(1): 20-24. Nº de citas: 13

    [doi:10.1002/ajmg.a.61405]