Genetics and sensorineural pathophysiology
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Only original articles, editorials, guidelines.
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Morin, Matias, Forst, Anna-Lena, Perez-Torre, Paula, Jimenez-Escrig, Adriano, Barca-Tierno, Veronica, Garcia-Galloway, Eva, Warth, Richard, Lopez-Sendon Moreno, Jose Luis, 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. Number of citations: 9
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Fernandez, Almudena, Morin, Matias, Muñoz-Santos D, Josa, Santiago, Montero, Andrea, Rubio-Fernandez, Marcos, Cantero, Marta, Fernandez, Julia, Del Hierro, Maria Jesus, Castrillo, Marta, Moreno-Pelayo, Miguel Angel, Montoliu, Lluis.
Simple Protocol for Generating and Genotyping Genome-Edited Mice With CRISPR-Cas9 Reagents.
Current protocols in mouse biology . 10(1): 69-69. Number of citations: 9
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Muñoz G, Garcia-Seisdedos, David, Ciubotariu, Crina, Piris-Villaespesa, Miguel, Gandia, Marta, Martin-Moro, Fernando, Gutierrez-Solana, Luis G, Morado, Marta, Lopez-Jimenez, Javier, Sanchez-Herranz, Antonio, Villarrubia, Jesus, Del Castillo, Francisco J.
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. Number of citations: 5
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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. Number of citations: 28
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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. Number of citations: 4
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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. Number of citations: 6
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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): . Number of citations: 2
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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. Number of citations: 12
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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. Number of citations: 3
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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.
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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. Number of citations: 21
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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.
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Del Castillo FJ, Del Castillo I.
DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.
FRONTIERS IN MOLECULAR NEUROSCIENCE . 10: 428-428. Number of citations: 38
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Marin AV, Jiménez-Reinoso A, Briones AC, Muñoz-Ruiz M, Aydogmus C, Pasick LJ, Couso J, Mazariegos MS, Alvarez-Prado AF, Blázquez-Moreno A, Cipe FE, Haskologlu S, Dogu F, Morín M, Moreno-Pelayo MA, García-Sánchez F, Gil-Herrera J, Fernández-Malavé E, Reyburn HT, Ramiro AR, Ikinciogullari A, Recio MJ, Regueiro JR, Garcillán B.
Primary T-cell immunodeficiency with functional revertant somatic mosaicism in CD247.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY . 139(1): . Number of citations: 9
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Vogl C, Panou I, Yamanbaeva G, Wichmann C, Mangosing SJ, Vilardi F, Indzhykulian AA, Pangršic T, Santarelli R, Rodriguez-Ballesteros M, Weber T, Jung S, Cardenas E, Wu X, Wojcik SM, Kwan KY, Del Castillo I, Schwappach B, Strenzke N, Corey DP, Lin SY, Moser T.
Tryptophan-rich basic protein (WRB) mediates insertion of the tail-anchored protein otoferlin and is required for hair cell exocytosis and hearing.
EMBO JOURNAL . 35(23): 2536-2552. Number of citations: 33
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Santarelli R, Del Castillo I, Cama E, Scimemi P, Starr A.
Audibility, speech perception and processing of temporal cues in ribbon synaptic disorders due to OTOF mutations
HEARING RESEARCH . 330(B, SI): 200-212. Number of citations: 31
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Zazo Seco C, Serrão de Castro L, van Nierop JW, Morín M, Jhangiani S, Verver EJ, Schraders M, Maiwald N, Wesdorp M, Venselaar H, Spruijt L, Oostrik J, Schoots J, Baylor-Hopkins Center for Mendelian Genomics, van Reeuwijk J, Lelieveld SH, Huygen PL, Insenser M, Admiraal RJ, Pennings RJ, Hoefsloot LH, Arias-Vásquez A, de Ligt J, Yntema HG, Jansen JH, Muzny DM, Huls G, van Rossum MM, Lupski JR, Moreno-Pelayo MA, Kunst HP, Kremer H.
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2
AMERICAN JOURNAL OF HUMAN GENETICS . 97(5): 647-660. Number of citations: 37
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Hernández-Imaz E, Martín Y, de Conti L, Melean G, Valero A, Baralle M, Hernández-Chico C.
Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing
Plos One . 10(10): . Number of citations: 5