Genética y patofisiología neurosensorial

Buscador de publicaciones

Sólo se han incluido artículos originales, editoriales y revisiones.

  • Morin M, Forst AL, Pérez-Torre P, Jiménez-Escrig A, Barca-Tierno V, García-Galloway E, Warth R, Lopez-Sendón Moreno JL, Moreno-Pelayo MA.

    Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype.

    Neurogenetics . 21(2): 135-143.

    [doi:10.1007/s10048-020-00605-6]

  • Fernández A, Morín M, Muñoz-Santos D, Josa S, Montero A, Rubio-Fernández M, Cantero M, Fernández J, Del Hierro MJ, Castrillo M, Moreno-Pelayo MÁ, Montoliu L.

    Simple Protocol for Generating and Genotyping Genome-Edited Mice With CRISPR-Cas9 Reagents.

    Current protocols in mouse biology . 10(1): e69.

    [doi:10.1002/cpmo.69]

  • Muñoz G, García-Seisdedos D, Ciubotariu C, Piris-Villaespesa M, Gandía M, Martín-Moro F, Gutiérrez-Solana LG, Morado M, López-Jiménez J, Sánchez-Herranz A, Villarrubia J, Del Castillo FJ.

    Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel.

    Jimd Reports . 51(1): 53-61.

    [doi:10.1002/jmd2.12078]

  • Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Ojeda MM, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Shahar NR, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli M, Martin Y, Wimmer K, De Luca A, Legius E, Messiaen LM.

    Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276 and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

    HUMAN MUTATION . 41(1): 299-315. Nº de citas: 2

    [doi:10.1002/humu.23929]

  • Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN, ClinGen Hearing Loss Working Group.

    Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.

    GENETICS IN MEDICINE . 21(11): 2442-2452. Nº de citas: 3

    [doi:10.1038/s41436-019-0535-9]

  • López-Huertas MR, Morín M, Madrid-Elena N, Gutiérrez C, Jiménez-Tormo L, Santoyo J, Sanz-Rodríguez F, Moreno Pelayo MÁ, Bermejo LG, Moreno S.

    Selective miRNA Modulation Fails to Activate HIV Replication in InVitro Latency Models.

    MOLECULAR THERAPY-NUCLEIC ACIDS . 17: 323-336.

    [doi:10.1016/j.omtn.2019.06.006]

  • Domínguez-Ruiz M, García-Martínez A, Corral-Juan M, Pérez-Álvarez ÁI, Plasencia AM, Villamar M, Moreno-Pelayo MA, Matilla-Dueñas A, Menéndez-González M, Del Castillo I.

    Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.

    Journal of Translational Medicine . 17(1): 290-290. Nº de citas: 2

    [doi:10.1186/s12967-019-2041-x]

  • Al Yassin A, D'Arco F, Morín M, Pagarkar W, Harrop-Griffiths K, Shaida A, Fernández E, Cullup T, De-Souza B, Moreno-Pelayo MA, Bitner-Glindzicz M.

    Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases.

    GENES . 10(7): 529.

    [doi:10.3390/genes10070529]

  • Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM.

    Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

    GENETICS IN MEDICINE . 21(4): 867-876. Nº de citas: 16

    [doi:10.1038/s41436-018-0269-0]

  • Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM.

    Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

    GENETICS IN MEDICINE . 21(3): 764-765. Nº de citas: 1

    [doi:10.1038/s41436-018-0326-8]

  • Estañ MC, Fernández-Núñez E, Zaki MS, Esteban MI, Donkervoort S, Hawkins C, Caparros-Martin JA, Saade D, Hu Y, Bolduc V, Chao KR, Nevado J, Lamuedra A, Largo R, Herrero-Beaumont G, Regadera J, Hernandez-Chico C, Tizzano EF, Martinez-Glez V, Carvajal JJ, Zong R, Nelson DL, Otaify GA, Temtamy S, Aglan M, Issa M, Bönnemann CG, Lapunzina P, Yoon G, Ruiz-Perez VL.

    Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.

    NATURE COMMUNICATIONS . 10(1): 797-797. Nº de citas: 3

    [doi:10.1038/s41467-019-08548-9]

  • Tarilonte M, Morín M, Ramos P, Galdós M, Blanco-Kelly F, Villaverde C, Rey-Zamora D, Rebolleda G, Muñoz-Negrete FJ, Tahsin-Swafiri S, Gener B, Moreno-Pelayo MA, Ayuso C, Villamar M, Corton M.

    Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.

    Frontiers in Genetics . 9: 479-479. Nº de citas: 3

    [doi:10.3389/fgene.2018.00479]

  • Rosa-Rosa JM, Caniego-Casas T, Leskela S, Muñoz G, Del Castillo F, Garrido P, Palacios J.

    Modified SureSelect QXT Target Enrichment Protocol for Illumina Multiplexed Sequencing of FFPE Samples.

    BIOLOGICAL PROCEDURES ONLINE . 20: 19-19. Nº de citas: 2

    [doi:10.1186/s12575-018-0084-7]

  • Piris Villaespesa, M., Munoz Martin, G., Saez Martin, A. J., Nunez-Torron Stock, C., Moncada, J. L., Del Rey Sanchez, J. M., Fernandez Felix, B., Sanchez Perez, R., Del Castillo Ferndandez del Pino, F. J., Zamora, J., Martinez Lopez, J., Lopez Jimenez, J., Villarrubia Espinosa, J., Garcia Gutierrez, V.

    STUDY OF PREVALENCE OF JAK2V617F MUTATION IN PATIENTS WITH POTENTIAL POLYTETHEMIA VERA (PV)

    Haematologica . 103: 69-70.

  • Wesdorp M, Murillo-Cuesta S, Peters T, Celaya AM, Oonk A, Schraders M, Oostrik J, Gomez-Rosas E, Beynon AJ, Hartel BP, Okkersen K, Koenen HJPM, Weeda J, Lelieveld S, Voermans NC, Joosten I, Hoyng CB, Lichtner P, Kunst HPM, Feenstra I, de Bruijn SE, DOOFNL Consortium, Admiraal RJC, Yntema HG, van Wijk E, Del Castillo I, Serra P, Varela-Nieto I, Pennings RJE, Kremer H.

    MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.

    AMERICAN JOURNAL OF HUMAN GENETICS . 103(1): 74-88. Nº de citas: 5

    [doi:10.1016/j.ajhg.2018.05.011]

  • Calucho M, Bernal S, Alías L, March F, Venceslá A, Rodríguez-Álvarez FJ, Aller E, Fernández RM, Borrego S, Millán JM, Hernández-Chico C, Cuscó I, Fuentes-Prior P, Tizzano EF.

    Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases.

    NEUROMUSCULAR DISORDERS . 28(3): 208-215. Nº de citas: 33

    [doi:10.1016/j.nmd.2018.01.003]

  • del Castillo, Francisco J., Munoz, Gloria, Garcia-Seisdedos, David, Sanchez-Herranz, Antonio, Morado, Marta, Valles, Ana, Piris, Miguel, Martin-Moro, Fernando, Sanz-Ruperez, Alejandro, Lopez-Jimenez, Javier, Villarrubia, Jesus.

    Fast genetic diagnosis of lysosomal disorders by means of a novel NGS-based resequencing gene panel

    MOLECULAR GENETICS AND METABOLISM . 123(2): 38-38.

    [doi:10.1016/j.ymgme.2017.12.079]

  • Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, Hsiao MC, Chen Z, Balasubramanian M, Barnett CP, Becker TA, Ben-Shachar S, Bertola DR, Blakeley JO, Burkitt-Wright EMM, Callaway A, Crenshaw M, Cunha KS, Cunningham M, D'Agostino MD, Dahan K, De Luca A, Destrée A, Dhamija R, Eoli M, Evans DGR, Galvin-Parton P, George-Abraham JK, Gripp KW, Guevara-Campos J, Hanchard NA, Hernández-Chico C, Immken L, Janssens S, Jones KJ, Keena BA, Kochhar A, Liebelt J, Martir-Negron A, Mahoney MJ, Maystadt I, McDougall C, McEntagart M, Mendelsohn N, Miller DT, Mortier G, Morton J, Pappas J, Plotkin SR, Pond D, Rosenbaum K, Rubin K, Russell L, Rutledge LS, Saletti V, Schonberg R, Schreiber A, Seidel M, Siqveland E, Stockton DW, Trevisson E, Ullrich NJ, Upadhyaya M, van Minkelen R, Verhelst H, Wallace MR, Yap YS, Zackai E, Zonana J, Zurcher V, Claes K, Martin Y, Korf BR, Legius E, Messiaen LM.

    Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

    AMERICAN JOURNAL OF HUMAN GENETICS . 102(1): 69-87. Nº de citas: 34

    [doi:10.1016/j.ajhg.2017.12.001]