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Association of Thoracic Aortic Aneurysm Size With Long-term Patient Outcomes: The KP-TAA Study.
Solomon MD, Leong T, Sung SH, Lee C, Allen JG, Huh J, LaPunzina P, Lee H, Mason D, Melikian V, Pellegrini D, Scoville D, Sheikh AY, Mendoza D, Naderi S, Sheridan A, Hu X, Cirimele W, Gisslow A, Leung S, Padilla K, Bloom M, Chung J, Topic A, Vafaei P, Chang R, Miller DC, Liang DH, Go AS; Kaiser Permanente Northern California Center for Thoracic Aortic Disease. Solomon MD, et al. Among authors: lapunzina p. JAMA Cardiol. 2022 Nov 1;7(11):1160-1169. doi: 10.1001/jamacardio.2022.3305. JAMA Cardiol. 2022. PMID: 36197675 Free PMC article.
A novel missense variant at the NKX2-1 homeodomain prevents the transcriptional rescue by TAZ.
Villafuerte B, Carrasco-López C, Herranz Cecilia A, Garzón L, Simón R, Natera-de-Benito D, Alikhani P, Tenorio J, García-Santiago F, Solis M, Del-Pozo Á, Lapunzina P, Ortigoza-Escobar JD, Santisteban P, Moreno JC. Villafuerte B, et al. Among authors: lapunzina p. Thyroid. 2024 May 17. doi: 10.1089/thy.2023.0593. Online ahead of print. Thyroid. 2024. PMID: 38757609
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.
Altunoglu U, Palencia-Campos A, Güneş N, Turgut GT, Nevado J, Lapunzina P, Valencia M, Iturrate A, Otaify G, Elhossini R, Ashour A, K Amin A, Elnahas RF, Fernandez-Nuñez E, Flores CL, Arias P, Tenorio J, Chamorro Fernández CI, Güven Y, Özsu E, Eklioğlu BS, Ibarra-Ramirez M, Diness BR, Burnyte B, Ajmi H, Yüksel Z, Yıldırım R, Ünal E, Abdalla E, Aglan M, Kayserili H, Tuysuz B, Ruiz-Pérez V. Altunoglu U, et al. Among authors: lapunzina p. J Med Genet. 2024 Mar 26:jmg-2023-109546. doi: 10.1136/jmg-2023-109546. Online ahead of print. J Med Genet. 2024. PMID: 38531627
NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.
Sandoval-Talamantes AK, Tenorio-Castaño JA, Santos-Simarro F, Adán C, Fernández-Elvira M, García-Fernández L, Muñoz Y, Lapunzina P, Nevado J. Sandoval-Talamantes AK, et al. Among authors: lapunzina p. Genes (Basel). 2023 Nov 17;14(11):2091. doi: 10.3390/genes14112091. Genes (Basel). 2023. PMID: 38003033 Free PMC article.
The Human Phenotype Ontology in 2024: phenotypes around the world.
Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bakštein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, Čady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanušová K, He YO, Hegde H, Helbig I, Holasová K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai MC, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulová M, Millett CE, Mitchell PB, Moslerová V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Čajbiková NN, Nurnberger JI Jr, Og… See abstract for full author list ➔ Gargano MA, et al. Among authors: lapunzina p. Nucleic Acids Res. 2024 Jan 5;52(D1):D1333-D1346. doi: 10.1093/nar/gkad1005. Nucleic Acids Res. 2024. PMID: 37953324 Free PMC article.
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: lapunzina p. Genes (Basel). 2023 Oct 20;14(10):1965. doi: 10.3390/genes14101965. Genes (Basel). 2023. PMID: 37895315 Free PMC article. Review.
284 results