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Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Hochberg I, Demain LAM, Richer J, Thompson K, Urquhart JE, Rea A, Pagarkar W, Rodríguez-Palmero A, Schlüter A, Verdura E, Pujol A, Quijada-Fraile P, Amberger A, Deutschmann AJ, Demetz S, Gillespie M, Belyantseva IA, McMillan HJ, Barzik M, Beaman GM, Motha R, Ng KY, O'Sullivan J, Williams SG, Bhaskar SS, Lawrence IR, Jenkinson EM, Zambonin JL, Blumenfeld Z, Yalonetsky S, Oerum S, Rossmanith W; Genomics England Research Consortium; Yue WW, Zschocke J, Munro KJ, Battersby BJ, Friedman TB, Taylor RW, O'Keefe RT, Newman WG. Hochberg I, et al. Am J Hum Genet. 2021 Nov 4;108(11):2195-2204. doi: 10.1016/j.ajhg.2021.10.002. Epub 2021 Oct 28. Am J Hum Genet. 2021. PMID: 34715011 Free PMC article.
A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.
Rodríguez-García ME, Cotrina-Vinagre FJ, Olson AN, Sánchez-Calvin MT, de Aragón AM, de Las Heras RS, Dinman JD, de Vries BBA, Nabais Sá MJ, Quijada-Fraile P, Martínez-Azorín F. Rodríguez-García ME, et al. Among authors: quijada fraile p. J Hum Genet. 2023 Aug;68(8):543-550. doi: 10.1038/s10038-023-01150-4. Epub 2023 Apr 18. J Hum Genet. 2023. PMID: 37072624
Correction: A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.
Rodríguez-García ME, Cotrina-Vinagre FJ, Olson AN, Sánchez-Calvin MT, de Aragón AM, de Las Heras RS, Dinman JD, de Vries BBA, Nabais Sá MJ, Quijada-Fraile P, Martínez-Azorín F. Rodríguez-García ME, et al. Among authors: quijada fraile p. J Hum Genet. 2023 Aug;68(8):577. doi: 10.1038/s10038-023-01164-y. J Hum Genet. 2023. PMID: 37237142 No abstract available.
The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome.
Martín MÁ, García-Silva MT, Barcia G, Delmiro A, Rodríguez-García ME, Blázquez A, Francisco-Álvarez R, Martín-Hernández E, Quijada-Fraile P, Tejada-Palacios P, Arenas J, Santos C, Martínez-Azorín F. Martín MÁ, et al. Clin Genet. 2017 Jan;91(1):46-53. doi: 10.1111/cge.12815. Epub 2016 Jul 4. Clin Genet. 2017. PMID: 27256614
Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome.
Delmiro A, Rivera H, García-Silva MT, García-Consuegra I, Martín-Hernández E, Quijada-Fraile P, de Las Heras RS, Moreno-Izquierdo A, Martín MÁ, Arenas J, Martínez-Azorín F. Delmiro A, et al. Hum Mutat. 2013 Dec;34(12):1623-7. doi: 10.1002/humu.22445. Epub 2013 Oct 10. Hum Mutat. 2013. PMID: 24105702
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.
Martín-Hernández E, Aldámiz-Echevarría L, Castejón-Ponce E, Pedrón-Giner C, Couce ML, Serrano-Nieto J, Pintos-Morell G, Bélanger-Quintana A, Martínez-Pardo M, García-Silva MT, Quijada-Fraile P, Vitoria-Miñana I, Dalmau J, Lama-More RA, Bueno-Delgado MA, Del Toro-Riera M, García-Jiménez I, Sierra-Córcoles C, Ruiz-Pons M, Peña-Quintana LJ, Vives-Piñera I, Moráis A, Balmaseda-Serrano E, Meavilla S, Sanjurjo-Crespo P, Pérez-Cerdá C. Martín-Hernández E, et al. Orphanet J Rare Dis. 2014 Nov 30;9:187. doi: 10.1186/s13023-014-0187-4. Orphanet J Rare Dis. 2014. PMID: 25433810 Free PMC article.
37 results