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Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.
Palma-Milla C, Prat-Planas A, Soengas-Gonda E, Centeno-Pla M, Sánchez-Pozo J, Lazaro-Rodriguez I, Quesada-Espinosa JF, Arteche-Lopez A, Olival J, Pacio-Miguez M, Palomares-Bralo M, Santos-Simarro F, Cancho-Candela R, Vázquez-López M, Seidel V, Martinez-Monseny AF, Casas-Alba D, Grinberg D, Balcells S, Serrano M, Rabionet R, Martin MA, Urreizti R. Palma-Milla C, et al. Among authors: martinez monseny af. Pediatr Neurol. 2024 Jun;155:8-17. doi: 10.1016/j.pediatrneurol.2024.03.008. Epub 2024 Mar 14. Pediatr Neurol. 2024. PMID: 38569228 Review.
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.
Urreizti R, Lopez-Martin E, Martinez-Monseny A, Pujadas M, Castilla-Vallmanya L, Pérez-Jurado LA, Serrano M, Natera-de Benito D, Martínez-Delgado B, Posada-de-la-Paz M, Alonso J, Marin-Reina P, O'Callaghan M, Grinberg D, Bermejo-Sánchez E, Balcells S. Urreizti R, et al. Orphanet J Rare Dis. 2020 Feb 10;15(1):44. doi: 10.1186/s13023-020-1317-9. Orphanet J Rare Dis. 2020. PMID: 32041641 Free PMC article.
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
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).
Martínez-Monseny AF, Bolasell M, Callejón-Póo L, Cuadras D, Freniche V, Itzep DC, Gassiot S, Arango P, Casas-Alba D, de la Morena E, Corral J, Montero R, Pérez-Cerdá C, Pérez B, Artuch R, Jaeken J, Serrano M; CDG Spanish Consortium. Martínez-Monseny AF, et al. Ann Neurol. 2019 May;85(5):740-751. doi: 10.1002/ana.25457. Epub 2019 Mar 22. Ann Neurol. 2019. PMID: 30873657 Clinical Trial.
Okur-Chung neurodevelopmental syndrome in a patient from Spain.
Martinez-Monseny AF, Casas-Alba D, Arjona C, Bolasell M, Casano P, Muchart J, Ramos F, Martorell L, Palau F, García-Alix A, Serrano M. Martinez-Monseny AF, et al. Am J Med Genet A. 2020 Jan;182(1):20-24. doi: 10.1002/ajmg.a.61405. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729156
38 results