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Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
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, Lopez-Gonzalez 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 A, Lorda-Sanchez I, Almoguera B. Martinez-Cayuelas E, et al. Among authors: losada del pozo r. J Med Genet. 2023 Jul;60(7):644-654. doi: 10.1136/jmg-2022-108632. Epub 2022 Nov 29. J Med Genet. 2023. PMID: 36446582
Neuropsychiatric manifestations of Graves' disease in paediatric patients.
Losada-Del Pozo R, Soto-Insuga V, Martínez González M, Soriano Guillén L. Losada-Del Pozo R, et al. Neurologia. 2017 Apr;32(3):196-197. doi: 10.1016/j.nrl.2015.05.001. Epub 2015 Jun 19. Neurologia. 2017. PMID: 26096670 Free article. English, Spanish. No abstract available.
Procalcitonin, a high acute phase reactant in antiepileptic hypersentivity syndrome in pediatric age.
Cantarín-Extremera V, Castaño-De La Mota C, Alvarez-Coca J, Rojas MR, Gutierrez-Solana LG, García Peñas JJ, Martínez-Pérez J, Duat-Rodríguez A, López-Marín L, Losada-Del Pozo R. Cantarín-Extremera V, et al. Eur J Paediatr Neurol. 2012 Mar;16(2):200-2. doi: 10.1016/j.ejpn.2011.06.007. Epub 2011 Jul 28. Eur J Paediatr Neurol. 2012. PMID: 21798772
Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.
Ortega-Moreno L, Giráldez BG, Soto-Insuga V, Losada-Del Pozo R, Rodrigo-Moreno M, Alarcón-Morcillo C, Sánchez-Martín G, Díaz-Gómez E, Guerrero-López R, Serratosa JM; Grupo Español de Genética de las Epilepsias de la Infancia (GEGEI). Ortega-Moreno L, et al. Among authors: losada del pozo r. PLoS One. 2017 Nov 30;12(11):e0188978. doi: 10.1371/journal.pone.0188978. eCollection 2017. PLoS One. 2017. PMID: 29190809 Free PMC article.
Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features.
Soto-Insuga V, López RG, Losada-Del Pozo R, Rodrigo-Moreno M, Cayuelas EM, Giráldez BG, Díaz-Gómez E, Sánchez-Martín G, García LO, Serratosa JM; Grupo Español de Genética de las Epilepsias de la Infancia (GEGEI). Soto-Insuga V, et al. Among authors: losada del pozo r. Epilepsy Res. 2019 Aug;154:39-41. doi: 10.1016/j.eplepsyres.2019.04.003. Epub 2019 Apr 21. Epilepsy Res. 2019. PMID: 31035243
[Breath-holding spell or epileptic seizure? A description of three girls with epileptic seizures triggered by anoxia].
Soto-Insuga V, Oses M, Castaño-De la Mota C, Martínez-Bermejo A, Giráldez BG, Losada-Del Pozo R, Rodrigo-Moreno M, Martínez-Cayuelas E, Diaz-Gómez E, Serratosa JM. Soto-Insuga V, et al. Among authors: losada del pozo r. Rev Neurol. 2020 Oct 16;71(8):313-314. doi: 10.33588/rn.7108.2020347. Rev Neurol. 2020. PMID: 33034369 Free article. Spanish.
Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.
Sanchez-Jimeno C, Blanco-Kelly F, López-Grondona F, Losada-Del Pozo R, Moreno B, Rodrigo-Moreno M, Martinez-Cayuelas E, Riveiro-Alvarez R, Fenollar-Cortés M, Ayuso C, Rodríguez de Alba M, Lorda-Sanchez I, Almoguera B. Sanchez-Jimeno C, et al. Among authors: losada del pozo r. Genes (Basel). 2021 Aug 30;12(9):1360. doi: 10.3390/genes12091360. Genes (Basel). 2021. PMID: 34573342 Free PMC article. Review.
Sleep Problems, Circadian Rhythms, and Their Relation to Behavioral Difficulties in Children and Adolescents with Autism Spectrum Disorder.
Martinez-Cayuelas E, Gavela-Pérez T, Rodrigo-Moreno M, Losada-Del Pozo R, Moreno-Vinues B, Garces C, Soriano-Guillén L. Martinez-Cayuelas E, et al. Among authors: losada del pozo r. J Autism Dev Disord. 2023 Mar 4:1-15. doi: 10.1007/s10803-023-05934-7. Online ahead of print. J Autism Dev Disord. 2023. PMID: 36869970 Free PMC article.
16 results