Persones / Equip Humà

Antonio F Martinez Monseny

Buscador de publicacions

Publicacions

  • Martinez-Cayuelas E, Blanco-Kelly F, Lopez-Grondona F, Swafiri ST, Lopez-Rodriguez R, Losada-Del Pozo R, Mahillo-Fernandez I, Moreno B, Rodrigo-Moreno M, Casas-Alba D, López A, García-Miñaúr S, Ángeles Mori M, Pacio-Minguez M, Rikeros-Orozco E, Santos-Simarro F, Cruz-Rojo J, Quesada-Espinosa JF, Sanchez-Calvin MT, Sanchez-Del Pozo J, Bernado Fonz R, Isidoro-Garcia M, Ruiz-Ayucar I, Alvarez-Mora MI, Blanco-Lago R, De Azua B, Eiris J, Garcia-Peñas JJ, Gil-Fournier B, Gomez-Lado C, Irazabal N, Lopez-Gonzalez V, Madrigal I, Malaga I, Martinez-Menendez B, Ramiro-Leon S, Garcia-Hoyos M, Prieto-Matos P, Lopez-Pison J, Aguilera-Albesa S, Alvarez S, Fernández-Jaén A, Llano-Rivas I, Gener-Querol B, Ayuso C, Arteche-Lopez A, Palomares-Bralo M, Cueto-González A, Valenzuela I, Martinez-Monseny T, Lorda-Sanchez I and Almoguera B.

    Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients

    JOURNAL OF MEDICAL GENETICS . 60(7): 644-654. Nº de cites: 16

    [doi:10.1136/jmg-2022-108632]

  • Vega-Hanna L, Sanz-Cuesta M, Casas-Alba D, Bolasell M, Martorell-Sampol L, Pias-Peleteiro LD, Lucia FA, Martinez-Monseny T and Serrano M.

    Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study

    Frontiers in Pediatrics . 11: 1184529-1184529. Nº de cites: 5

    [doi:10.3389/fped.2023.1184529]

  • Vos N, Reilly J, Elting MW, Campeau PM, Coman D, Stark Z, Tan TY, Amor DJ, Kaur S, StJohn M, Morgan AT, Kamien BA, Patel C, Tedder ML, Merla G, Prontera P, Castori M, Muru K, Collins F, Christodoulou J, Smith J, Zeev BB, Murgia A, Leonardi E, Esber N, Martinez-Monseny T, Casas-Alba D, Wallis M, Mannens M, Levy MA, Relator R, Alders M and Sadikovic B.

    DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants

    Epigenomics . 15(6): 351-368. Nº de cites: 7

    [doi:10.2217/epi-2023-0079]

  • Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch-Iriberri R, Gallano P, Garrabou G, González JR, Grinberg-Vaisman DR, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA and Beltran S.

    Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

    The Journal of molecular diagnostics : JMD . 24(5): 529-542. Nº de cites: 20

    [doi:10.1016/j.jmoldx.2022.02.003]

  • Ramon-Krauel M, Amat-Bou M, Serrano M, Martinez-Monseny T and Lerin C.

    Targeting the Gut Microbiome in Prader-Willi Syndrome

    Journal of Clinical Medicine . 10(22): 5328. Nº de cites: 2

    [doi:10.3390/jcm10225328]

  • Tenorio-Castaño J, Arias P, Fernández-Jaén A, Lay-Son G, Bueno-Lozano G, Bayat A, Faivre L, Gallego N, Ramos S, Butler KM, Morel C, Hadjiyannakis S, Lespinasse J, Tran-Mau-Them F, Santos-Simarro F, Pinson L, Martinez-Monseny T, O'Callaghan-Gordo M, Álvarez S, Stolerman ES, Washington C, Ramos FJ, Consortium TS and Lapunzina P.

    Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features

    CLINICAL GENETICS . 100(4): 405-411. Nº de cites: 3

    [doi:10.1111/cge.14020]

  • Pascual-Alonso A, Martinez-Monseny T, Xiol-Viñas C and Armstrong-Moron J.

    MECP2-Related Disorders in Males

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(17): 9610. Nº de cites: 34

    [doi:10.3390/ijms22179610]

  • Alamar AM, Candela-Cantó SA, Flor-Goikoetxea A, Salvador-Hernandez H, Martinez-Monseny T, Muchart-Lopez J and Hinojosa J.

    Megalencephaly-capillary malformation syndrome and associated hydrocephalus: treatment options and revision of the literature

    CHILDS NERVOUS SYSTEM . 37(8): 2441-2449. Nº de cites: 2

    [doi:10.1007/s00381-021-05222-8]

  • Martinez-Monseny T, Edo A, Casas-Alba D, Izquierdo-Serra M, Bolasell M, Conejo D, Martorell-Sampol L, Muchart-Lopez J, Carrera-García L, Ortez-Gonzalez CI, Nascimento-Osorio A, Oliva B, Fernández-Fernández JM and Serrano M.

    CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(10): 5180. Nº de cites: 11

    [doi:10.3390/ijms22105180]

  • Zarate YA, Bosanko KA, Thomas MA, Miller DT, Cusmano-Ozog K, Martinez-Monseny T, Curry CJ, Graham JM Jr, Velsher L, Bekheirnia MR, Seidel V, Dedousis D, Mitchell AL, DiMarino AM, Riess A, Balasubramanian M, Fish JL, Caffrey AR, Fleischer N, Pierson TM and Lacro RV.

    Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2

    CLINICAL GENETICS . 99(4): 547-557. Nº de cites: 15

    [doi:10.1111/cge.13912]