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421 results

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Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease.
Delea M, Massara LS, Espeche LD, Bidondo MP, Barbero P, Oliveri J, Brun P, Fabro M, Galain M, Fernández CS, Taboas M, Bruque CD, Kolomenski JE, Izquierdo A, Berenstein A, Cosentino V, Martinoli C, Vilas M, Rittler M, Mendez R, Furforo L, Liascovich R, Groisman B, Rozental S, Dain L, On Behalf Of The Pid Acm-Cc Group. Delea M, et al. Among authors: izquierdo a. Genes (Basel). 2022 Jun 29;13(7):1172. doi: 10.3390/genes13071172. Genes (Basel). 2022. PMID: 35885957 Free PMC article.
Identification of a Novel Variant in Myelin Regulatory Growth Factor by Next-Generation Sequencing Led to the Detection of a Clinically Inapparent Congenital Heart Defect in a Patient with a 46,XY Disorder of Sex Development.
Correa Brito L, Grinspon RP, Lopez Dacal J, Scaglia P, Esnaola Azcoiti M, Izquierdo A, Ropelato MG, Rey RA. Correa Brito L, et al. Among authors: izquierdo a. J Pers Med. 2023 Jul 19;13(7):1158. doi: 10.3390/jpm13071158. J Pers Med. 2023. PMID: 37511771 Free PMC article.
Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype-phenotype correlation.
Natale MI, Manzur GB, Lusso SB, Cella E, Giovo ME, Andrada R, Goitia J, Fernández MF, Della Giovanna PS, Guillamondegui MJ, Domínguez M, Gutiérrez O, Izquierdo A, Hernández Herrera H, Velázquez Perdomo LG, Mistchenko AS, Valinotto LE. Natale MI, et al. Among authors: izquierdo a. Am J Med Genet A. 2022 Nov;188(11):3153-3161. doi: 10.1002/ajmg.a.62957. Epub 2022 Aug 18. Am J Med Genet A. 2022. PMID: 35979658
Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report.
Castro S, Brunello FG, Sansó G, Scaglia P, Esnaola Azcoiti M, Izquierdo A, Villegas F, Bergadá I, Ropelato MG, Martí MA, Rey RA, Grinspon RP. Castro S, et al. Among authors: izquierdo a. Front Pediatr. 2022 Jun 3;10:887658. doi: 10.3389/fped.2022.887658. eCollection 2022. Front Pediatr. 2022. PMID: 35722485 Free PMC article.
Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome.
Correa Brito L, Keselman A, Villegas F, Scaglia P, Esnaola Azcoiti M, Castro S, Sanguineti N, Izquierdo A, Maier M, Bergadá I, Arberas C, Rey RA, Ropelato MG. Correa Brito L, et al. Among authors: izquierdo a. Front Genet. 2024 Mar 11;15:1354715. doi: 10.3389/fgene.2024.1354715. eCollection 2024. Front Genet. 2024. PMID: 38528912 Free PMC article.
Claudin-1 as a novel target gene induced in obesity and associated to inflammation, fibrosis, and cell differentiation.
Fernández-García P, Taxerås SD, Reyes-Farias M, González L, Soria-Gondek A, Pellitero S, Tarascó J, Moreno P, Sumoy L, Stephens JM, Yoo LG, Galán M, Izquierdo A, Medina-Gómez G, Herrero L, Corrales P, Villarroya F, Cereijo R, Sánchez-Infantes D. Fernández-García P, et al. Among authors: izquierdo a. Eur J Endocrinol. 2024 Mar 2;190(3):201-210. doi: 10.1093/ejendo/lvae018. Eur J Endocrinol. 2024. PMID: 38375549
Centromeric AA motif in KIR as an optimal surrogate marker for precision definition of alloimmune reproductive failure.
Gil Laborda R, de Frías ER, Subhi-Issa N, de Albornoz EC, Meliá E, Órdenes M, Verdú V, Vidal J, Suárez E, Santillán I, Ordóñez D, Pintado-Vera D, González Villafáñez V, Lorenzo Á, Fariñas M, Rodríguez-Paíno M, Núñez Beltrán M, García Segovia Á, Del Olmo A, Martín Cañadas F, Daurelio R, de la Fuente A, González Casbas JM, Cabezuelo V, Ros Berruezo F, Moreno Hidalgo MÁ, Iniesta S, Bueno B, Martínez Acera Á, Izquierdo A, Vicario JL, Fernández-Arquero M, Sánchez-Ramón S. Gil Laborda R, et al. Among authors: izquierdo a. Sci Rep. 2024 Feb 9;14(1):3354. doi: 10.1038/s41598-024-53766-x. Sci Rep. 2024. PMID: 38336826 Free PMC article.
421 results