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635 results

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Page 1
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: parra a. Clin Genet. 2023 Dec;104(6):637-647. doi: 10.1111/cge.14423. Epub 2023 Sep 13. Clin Genet. 2023. PMID: 37702321 Review.
Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants.
Cardoso LCA, Parra A, Gil CR, Arias P, Gallego N, Romanelli V, Kantaputra PN, Lima L, Llerena Júnior JC, Arberas C, Guillén-Navarro E, Nevado J, Spanish OverGrowth Registry Initiative, Tenorio-Castano J, Lapunzina P. Cardoso LCA, et al. Among authors: parra a. Cancers (Basel). 2022 Aug 5;14(15):3807. doi: 10.3390/cancers14153807. Cancers (Basel). 2022. PMID: 35954470 Free PMC article.
Adult experiences in Beckwith-Wiedemann syndrome.
Drust WA, Mussa A, Gazzin A, Lapunzina P, Tenorio-Castaño J, Nevado J, Pascual P, Arias P, Parra A, Getz KD, Kalish JM. Drust WA, et al. Among authors: parra a. Am J Med Genet C Semin Med Genet. 2023 Jun;193(2):116-127. doi: 10.1002/ajmg.c.32046. Epub 2023 May 10. Am J Med Genet C Semin Med Genet. 2023. PMID: 37163416
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. Genes (Basel). 2023 May 29;14(6):1179. doi: 10.3390/genes14061179. Genes (Basel). 2023. PMID: 37372360 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: parra a. Genes (Basel). 2023 Aug 23;14(9):1664. doi: 10.3390/genes14091664. Genes (Basel). 2023. PMID: 37761804 Free PMC article. Review.
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: parra a. Genes (Basel). 2023 Oct 20;14(10):1965. doi: 10.3390/genes14101965. Genes (Basel). 2023. PMID: 37895315 Free PMC article. Review.
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. Clin Genet. 2024 Nov;106(5):614-624. doi: 10.1111/cge.14596. Epub 2024 Aug 1. Clin Genet. 2024. PMID: 39091142
Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature review.
Nisbet AF, Viswanathan A, George AM, Arias P, Klein SD, Nevado J, Parra A, Pascual P, Romeo DJ, Tenorio-Castaño J, Taylor JA, Zackai EH, Lapunzina P, Kalish JM. Nisbet AF, et al. Among authors: parra a. Am J Med Genet A. 2024 Dec;194(12):e63840. doi: 10.1002/ajmg.a.63840. Epub 2024 Aug 19. Am J Med Genet A. 2024. PMID: 39158128 Review.
635 results