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Page 1
AMOTL1-Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities.
Gallego-Zazo N, Tenorio-Castano J, Parra A, Nevado J, Cazalla M, Lucas-Castro E, Heath KE, Palomares M, Soengas E, Lledín MD, Larrea E, Olveira A, Morte B, Carracedo Á, Lapunzina P. Gallego-Zazo N, et al. Among authors: cazalla m. Clin Genet. 2024 Nov 13. doi: 10.1111/cge.14644. Online ahead of print. Clin Genet. 2024. PMID: 39538375
Mortality in Patients with 22q11.2 Rearrangements.
Cilio Arroyuelo M, Tenorio-Castano J, García-Moya LF, Parra A, Cazalla M, Gallego N, Miranda L, Mori MÁ, García-Gueretta L, Labrandero C, Mansilla E, Rikeros E, García-Santiago F, Vallcorba I, Arias P, Silván C, Deiros Bronte L, Nevado J, Lapunzina P. Cilio Arroyuelo M, et al. Among authors: cazalla m. Genes (Basel). 2024 Aug 30;15(9):1146. doi: 10.3390/genes15091146. Genes (Basel). 2024. PMID: 39336737 Free PMC article.
Comprehensive Screening of Genetic Variants in the Coding Region of F8 in Severe Hemophilia A Reveals a Relationship with Disease Severity in a Colombian Cohort.
Sarmiento Doncel S, Peláez RG, Lapunzina P, Corrales-Medina FF, Díaz Mosquera GA, Bonanad S, Cortes JM, Cazalla M, Gallego N, Querol-Giner F, Tenorio J, López Guerrero JA. Sarmiento Doncel S, et al. Among authors: cazalla m. Life (Basel). 2024 Aug 21;14(8):1041. doi: 10.3390/life14081041. Life (Basel). 2024. PMID: 39202783 Free PMC article.
Non-immune hydrops fetalis is associated with bi-allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene.
Tenorio-Castano J, Mansilla Aparicio E, García Santiago FA, Klotz CM, Regojo RM, Anguita E, Ryan E, Juusola J, Herrero B, Arias P, Parra A, Pascual P, Gallego N, Cazalla M, Rodriguez-González R, Antolín E, Nevado J, Ruiz-Perez VL, Lapunzina P. Tenorio-Castano J, et al. Among authors: cazalla m. Clin Genet. 2024 Dec;106(6):713-720. doi: 10.1111/cge.14601. Epub 2024 Aug 27. Clin Genet. 2024. PMID: 39191491
Identification of copy-number variants in patients with overgrowth disorders.
Parra A, Tenorio-Castano J, Nevado J, Cazalla M, Miranda-Alcaraz L, Gallego-Zazo N, Silván C, Arias P, Pozo-Román J, Ballesta-Martínez MJ, Guillén-Navarro E, Arroyo I, Lotersztein V, Cosentino V, González-Meneses A, Galán E, Rosell J, Ramos F; Spanish OverGrowth Registry Initiative; Lapunzina P. Parra A, et al. Among authors: cazalla m. Clin Genet. 2024 Nov;106(5):614-624. doi: 10.1111/cge.14596. Epub 2024 Aug 1. Clin Genet. 2024. PMID: 39091142
Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature.
Gallego-Zazo N, Miranda-Alcaraz L, Cruz-Utrilla A, Del Cerro Marín MJ, Álvarez-Fuente M, Del Mar Rodríguez Vázquez Del Rey M, Guillén Rodríguez I, Becerra-Munoz VM, Moya-Bonora A, Ochoa Parra N, Parra A, Pascual P, Cazalla M, Silván C, Arias P, Valverde D, de Jesús-Pérez V, Lapunzina P, Escribano-Subías P, Tenorio-Castano J. Gallego-Zazo N, et al. Among authors: cazalla m. Genes (Basel). 2023 Oct 20;14(10):1965. doi: 10.3390/genes14101965. Genes (Basel). 2023. PMID: 37895315 Free PMC article. Review.
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.
Pascual P, Tenorio-Castano J, Mignot C, Afenjar A, Arias P, Gallego-Zazo N, Parra A, Miranda L, Cazalla M, Silván C, Heron D, Keren B, Popa I, Palomares M, Rikeros E, Ramos FJ, Almoguera B, Ayuso C, Swafiri ST, Barbero AIS, Srinivasan VM, Gowda VK, Morleo M, Nigro V, D'Arrigo S, Ciaccio C, Martin Mesa C, Paumard B, Guillen G, Anton ATS, Jimenez MD, Seidel V, Suárez J, Cormier-Daire V, Consortium TS, Nevado J, Lapunzina P. Pascual P, et al. Among authors: cazalla m. Genes (Basel). 2023 Aug 23;14(9):1664. doi: 10.3390/genes14091664. Genes (Basel). 2023. PMID: 37761804 Free PMC article. Review.
Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency.
Tenorio-Castano J, Gómez ÁS, Coronado M, Rodríguez-Martín P, Parra A, Pascual P, Cazalla M, Gallego N, Arias P, Morales AV, Nevado J, Lapunzina P. Tenorio-Castano J, et al. Among authors: cazalla m. Clin Genet. 2023 Dec;104(6):637-647. doi: 10.1111/cge.14423. Epub 2023 Sep 13. Clin Genet. 2023. PMID: 37702321 Review.
11 results