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Page 1
The LINCE Project: A Pathway for Diagnosing NCL2 Disease.
Rodrigues D, de Castro MJ, Crujeiras P, Duat-Rodriguez A, Marco AV, Del Toro M, Couce ML, Colón C. Rodrigues D, et al. Among authors: duat rodriguez a. Front Pediatr. 2022 Mar 29;10:876688. doi: 10.3389/fped.2022.876688. eCollection 2022. Front Pediatr. 2022. PMID: 35425725 Free PMC article.
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Martínez-Rubio D, Hinarejos I, Sancho P, Gorría-Redondo N, Bernadó-Fonz R, Tello C, Marco-Marín C, Martí-Carrera I, Martínez-González MJ, García-Ribes A, Baviera-Muñoz R, Sastre-Bataller I, Martínez-Torres I, Duat-Rodríguez A, Janeiro P, Moreno E, Pías-Peleteiro L, Gordo MO, Ruiz-Gómez Á, Muñoz E, Martí MJ, Sánchez-Monteagudo A, Fuster C, Andrés-Bordería A, Pons RM, Jesús-Maestre S, Mir P, Lupo V, Pérez-Dueñas B, Darling A, Aguilera-Albesa S, Espinós C. Martínez-Rubio D, et al. Among authors: duat rodriguez a. Int J Mol Sci. 2022 Oct 6;23(19):11847. doi: 10.3390/ijms231911847. Int J Mol Sci. 2022. PMID: 36233161 Free PMC article.
Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?
Garcia B, Catasus N, Ros A, Rosas I, Negro A, Guerrero-Murillo M, Valero AM, Duat-Rodriguez A, Becerra JL, Bonache S, Lázaro Garcia C, Comas C, Bielsa I, Serra E, Hernández-Chico C, Martin Y, Castellanos E, Blanco I. Garcia B, et al. Among authors: duat rodriguez a. J Med Genet. 2022 Oct;59(10):1017-1023. doi: 10.1136/jmedgenet-2021-108301. Epub 2022 Feb 4. J Med Genet. 2022. PMID: 35121649
[Tuberous sclerosis complex: analysis of areas of involvement, treatment progress and translation to routine clinical practice in a cohort of paediatric patients].
Cantarín-Extremera V, Bernardino-Cuesta B, Martín-Villaescusa C, Melero-Llorente J, Hernández-Martín A, Aparicio-López C, de Lucas-Collantes C, Tamariz Martel-Moreno A, Duat-Rodríguez A, Ruiz-Falcó-Rojas ML. Cantarín-Extremera V, et al. Rev Neurol. 2021 Sep 1;73(5):141-150. doi: 10.33588/rn.7305.2020665. Rev Neurol. 2021. PMID: 34328203 Free article. Spanish.
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens T, Chen Y, Liu Y, Cochran M, Abbott MA, Atkin J, Babovic-Vuksanovic D, Barnett CP, Crenshaw M, Bartholomew DW, Basel L, Bellus G, Ben-Shachar S, Bialer MG, Bick D, Blumberg B, Cortes F, David KL, Destree A, Duat-Rodriguez A, Earl D, Escobar L, Eswara M, Ezquieta B, Frayling IM, Frydman M, Gardner K, Gripp KW, Hernández-Chico C, Heyrman K, Ibrahim J, Janssens S, Keena BA, Llano-Rivas I, Leppig K, McDonald M, Misra VK, Mulbury J, Narayanan V, Orenstein N, Galvin-Parton P, Pedro H, Pivnick EK, Powell CM, Randolph L, Raskin S, Rosell J, Rubin K, Seashore M, Schaaf CP, Scheuerle A, Schultz M, Schorry E, Schnur R, Siqveland E, Tkachuk A, Tonsgard J, Upadhyaya M, Verma IC, Wallace S, Williams C, Zackai E, Zonana J, Lazaro C, Claes K, Korf B, Martin Y, Legius E, Messiaen L. Rojnueangnit K, et al. Hum Mutat. 2015 Nov;36(11):1052-63. doi: 10.1002/humu.22832. Epub 2015 Aug 21. Hum Mutat. 2015. PMID: 26178382 Free PMC article.
Neurofibromatosis type 1 associated with moyamoya syndrome in children.
Duat-Rodríguez A, Carceller Lechón F, López Pino MÁ, Rodríguez Fernández C, González-Gutiérrez-Solana L. Duat-Rodríguez A, et al. Pediatr Neurol. 2014 Jan;50(1):96-8. doi: 10.1016/j.pediatrneurol.2013.04.007. Epub 2013 Oct 23. Pediatr Neurol. 2014. PMID: 24269170
[Phenotypic and genetic features in neurofibromatosis type 1 in children].
Duat Rodríguez A, Martos Moreno GÁ, Martín Santo-Domingo Y, Hernández Martín A, Espejo-Saavedra Roca JM, Ruiz-Falcó Rojas ML, Argente J. Duat Rodríguez A, et al. An Pediatr (Barc). 2015 Sep;83(3):173-82. doi: 10.1016/j.anpedi.2014.10.010. Epub 2014 Dec 23. An Pediatr (Barc). 2015. PMID: 25541118 Free article. Spanish.
56 results