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A Phase III Randomized Trial of Integrated Genomics and Avatar Models for Personalized Treatment of Pancreatic Cancer: the AVATAR Trial.
Sarno F, Tenorio J, Perea S, Medina L, Pazo-Cid R, Juez I, Garcia-Carbonero R, Feliu J, Guillen-Ponce C, Lopez-Casas PP, Guerra C, Duran Y, López-Acosta JF, Alonso C, Esquivel E, Dopazo A, Akshinthala D, Muthuswamy SK, Lapunzina P, Bockorny B, Hidalgo M. Sarno F, et al. Among authors: lapunzina p. Clin Cancer Res. 2024 Nov 14. doi: 10.1158/1078-0432.CCR-23-4026. Online ahead of print. Clin Cancer Res. 2024. PMID: 39540844
A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZ.
Villafuerte B, Carrasco-López C, Herranz 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 Jul;34(7):942-948. doi: 10.1089/thy.2023.0593. Epub 2024 May 29. Thyroid. 2024. PMID: 38757609
Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature.
Sánchez-Montenegro C, Vilanova-Sánchez A, Barrena-Delfa S, Tenorio J, Santos-Simarro F, García-Miñaur S, Lapunzina P, Martínez-Martínez L. Sánchez-Montenegro C, et al. Among authors: lapunzina p. Case Rep Genet. 2017;2017:1587610. doi: 10.1155/2017/1587610. Epub 2017 Jan 19. Case Rep Genet. 2017. PMID: 28203467 Free PMC article.
MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.
Tenorio J, Alarcón P, Arias P, Ramos FJ, Campistol J, Climent S, García-Miñaur S, Dapía I, Hernández A, Nevado J, Solís M, Ruiz-Pérez VL; Sogri Consortium; Lapunzina P. Tenorio J, et al. Among authors: lapunzina p. Clin Genet. 2019 Jun;95(6):726-731. doi: 10.1111/cge.13504. Epub 2019 Apr 29. Clin Genet. 2019. PMID: 30628072
Molecular Analysis of BMPR2, TBX4, and KCNK3 and Genotype-Phenotype Correlations in Spanish Patients and Families With Idiopathic and Hereditary Pulmonary Arterial Hypertension.
Navas P, Tenorio J, Quezada CA, Barrios E, Gordo G, Arias P, López Meseguer M, Santos-Lozano A, Palomino Doza J, Lapunzina P, Escribano Subías P. Navas P, et al. Among authors: lapunzina p. Rev Esp Cardiol (Engl Ed). 2016 Nov;69(11):1011-1019. doi: 10.1016/j.rec.2016.03.029. Epub 2016 Jul 21. Rev Esp Cardiol (Engl Ed). 2016. PMID: 27453251 English, Spanish.
A six-attribute classification of genetic mosaicism.
Martínez-Glez V, Tenorio J, Nevado J, Gordo G, Rodríguez-Laguna L, Feito M, de Lucas R, Pérez-Jurado LA, Ruiz Pérez VL, Torrelo A, Spinner NB, Happle R, Biesecker LG, Lapunzina P. Martínez-Glez V, et al. Among authors: lapunzina p. Genet Med. 2020 Nov;22(11):1743-1757. doi: 10.1038/s41436-020-0877-3. Epub 2020 Jul 14. Genet Med. 2020. PMID: 32661356 Free PMC article. Review.
Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.
Sandoval-Talamantes AK, Mori MÁ, Santos-Simarro F, García-Miñaur S, Mansilla E, Tenorio JA, Peña C, Adan C, Fernández-Elvira M, Rueda I, Lapunzina P, Nevado J. Sandoval-Talamantes AK, et al. Among authors: lapunzina p. Genes (Basel). 2023 Mar 29;14(4):820. doi: 10.3390/genes14040820. Genes (Basel). 2023. PMID: 37107578 Free PMC article.
296 results