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Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.
Huebner AK, Gandia M, Frommolt P, Maak A, Wicklein EM, Thiele H, Altmüller J, Wagner F, Viñuela A, Aguirre LA, Moreno F, Maier H, Rau I, Giesselmann S, Nürnberg G, Gal A, Nürnberg P, Hübner CA, del Castillo I, Kurth I. Huebner AK, et al. Among authors: gandia m. Am J Hum Genet. 2011 May 13;88(5):621-7. doi: 10.1016/j.ajhg.2011.04.007. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549336 Free PMC article.
Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.
Seco CZ, Oonk AM, Domínguez-Ruiz M, Draaisma JM, Gandía M, Oostrik J, Neveling K, Kunst HP, Hoefsloot LH, del Castillo I, Pennings RJ, Kremer H, Admiraal RJ, Schraders M. Seco CZ, et al. Among authors: gandia m. Eur J Hum Genet. 2015 Feb;23(2):189-94. doi: 10.1038/ejhg.2014.83. Epub 2014 Apr 30. Eur J Hum Genet. 2015. PMID: 24781754 Free PMC article.
Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.
Domínguez-Ruiz M, Rodríguez-Ballesteros M, Gandía M, Gómez-Rosas E, Villamar M, Scimemi P, Mancini P, Rendtorff ND, Moreno-Pelayo MA, Tranebjaerg L, Medà C, Santarelli R, Del Castillo I. Domínguez-Ruiz M, et al. Among authors: gandia m. Genes (Basel). 2022 Jan 15;13(1):149. doi: 10.3390/genes13010149. Genes (Basel). 2022. PMID: 35052489 Free PMC article.
Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel.
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. Muñoz G, et al. Among authors: gandia m. JIMD Rep. 2019 Dec 1;51(1):53-61. doi: 10.1002/jmd2.12078. eCollection 2020 Jan. JIMD Rep. 2019. PMID: 32071839 Free PMC article.
Can the Dose of Belimumab be Reduced in Patients with Systemic Lupus Erythematosus?
Rua-Figueroa I, Altabás-González I, Mouriño C, Roberts K, Hernández-Martín A, Casafont-Solé I, Font-Urgelles J, Román-Ivorra JA, Navarro MR, Galindo-Izquierdo M, Salman-Monte TC, Narváez J, Vidal-Montal P, García-Villanueva MJ, Garrote-Corral S, Blazquez-Canamero MA, Fernandez-Cid CM, Piqueras-García M, Martínez-Barrio J, Sánchez-Lucas M, Cortés-Hernández J, Penzo E, Calvo J, de Dios JR, Alvarez-Rodríguez B, Vasques-Rocha M, Tomero E, Menor-Almagro R, Gandía M, Gómez-Puerta JA, Frade-Sosa B, Ramos-Giráldez C, Trapero-Pérez C, Diez E, Moriano C, Muñoz-Jiménez A, Pego-Reigosa JM. Rua-Figueroa I, et al. Among authors: gandia m. Rheumatology (Oxford). 2024 May 13:keae270. doi: 10.1093/rheumatology/keae270. Online ahead of print. Rheumatology (Oxford). 2024. PMID: 38741198
68 results