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Year Number of Results
2014 1
2015 2
2016 1
2017 1
2020 1
2021 2
2022 5
2023 5
2024 4

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Page 1
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: martinez cayuelas e. Genes (Basel). 2021 Aug 30;12(9):1360. doi: 10.3390/genes12091360. Genes (Basel). 2021. PMID: 34573342 Free PMC article. Review.
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. 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
Sleep problems and circadian rhythm functioning in autistic children, autism with co-occurring attention deficit hyperactivity disorder, and typically developing children: A comparative study.
Martinez-Cayuelas E, Moreno-Vinués B, Pérez-Sebastián I, Gavela-Pérez T, Del Rio-Camacho G, Garcés C, Soriano-Guillén L. Martinez-Cayuelas E, et al. Autism. 2024 May 30:13623613241254594. doi: 10.1177/13623613241254594. Online ahead of print. Autism. 2024. PMID: 38813763
Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report.
Martínez-Granero F, Martínez-Cayuelas E, Rodilla C, Núñez-Moreno G, Rodríguez de Alba M, Blanco-Kelly F, Romero R, Minguez P, Ayuso C, Lorda-Sanchez I, Corton M, Almoguera B. Martínez-Granero F, et al. Among authors: martinez cayuelas e. Clin Genet. 2023 Apr;103(4):448-452. doi: 10.1111/cge.14306. Epub 2023 Feb 8. Clin Genet. 2023. PMID: 36719180
Perampanel as adjuvant treatment in epileptic encephalopathies: A multicenter study in routine clinical practice.
Alonso-Singer P, Aguilar-Amat Prior MJ, Oliva-Navarro J, Massot-Tarrús A, Giráldez BG, Bermejo P, DeToledo-Heras M, Aledo-Serrano Á, Martínez-Cayuelas E, Tirado-Requero P, Velázquez-Fragua R, López-Sobrino G, Ojeda J. Alonso-Singer P, et al. Among authors: martinez cayuelas e. Epilepsy Behav. 2022 Sep;134:108836. doi: 10.1016/j.yebeh.2022.108836. Epub 2022 Jul 20. Epilepsy Behav. 2022. PMID: 35870432
Manual scoring of periodic limb movements in children: is it still necessary?
Del-Río Camacho G, Mahíllo-Fernández I, García-Martín L, Blazquez-Domínguez M, Sánchez-Calle M, Herrero Huertas J, Martínez-Cayuelas E. Del-Río Camacho G, et al. Among authors: martinez cayuelas e. Sleep Med. 2024 Jul;119:229-233. doi: 10.1016/j.sleep.2024.04.030. Epub 2024 Apr 25. Sleep Med. 2024. PMID: 38704870
17 results