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[Multiple endocrine neoplasia and very early onset inflammatory bowel disease. An unexpected association].
Medicina (B Aires). 2024;84(2):347-350.
Medicina (B Aires). 2024.
PMID: 38683522
Free article.
Spanish.
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.
Parra A, Pascual P, Cazalla M, Arias P, Gallego-Zazo N, San-Martín EA, Silván C, Santos-Simarro F; Spanish OverGrowth Registry Initiative (SOGRI); Nevado J, Tenorio-Castano J, Lapunzina P.
Parra A, et al. Among authors: cazalla m.
Clin Genet. 2024 Feb;105(2):140-149. doi: 10.1111/cge.14440. Epub 2023 Oct 30.
Clin Genet. 2024.
PMID: 37904618
Item in Clipboard
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.
Item in Clipboard
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.
Item in Clipboard
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.
Item in Clipboard
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.
Parra A, Rabin R, Pappas J, Pascual P, Cazalla M, Arias P, Gallego-Zazo N, Santana A, Arroyo I, Artigas M, Pachajoa H, Alanay Y, Akgun-Dogan O, Ruaud L, Couque N, Levy J, Porras-Hurtado GL, Santos-Simarro F, Ballesta-Martinez MJ, Guillén-Navarro E, Muñoz-Hernández H, Nevado J, Spanish OverGrowth Registry Initiative, Tenorio-Castano J, Lapunzina P.
Parra A, et al. Among authors: cazalla m.
Genes (Basel). 2023 May 29;14(6):1179. doi: 10.3390/genes14061179.
Genes (Basel). 2023.
PMID: 37372360
Free PMC article.
Review.
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