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Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, Mundel P, López Siguero JP, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Torrente I, Marino B, Digilio MC, Zampino G, Ackerman MJ, Dallapiccola B, Tartaglia M, Gelb BD. Pandit B, et al. Among authors: lopez siguero jp. Nat Genet. 2007 Aug;39(8):1007-12. doi: 10.1038/ng2073. Epub 2007 Jul 1. Nat Genet. 2007. PMID: 17603483
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 Aug 1. doi: 10.1111/cge.14596. Online ahead of print. Clin Genet. 2024. PMID: 39091142
A new overgrowth syndrome is due to mutations in RNF125.
Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium; Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P. Tenorio J, et al. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. Hum Mutat. 2014. PMID: 25196541
Clinical and Genetic Characterization of a Cohort of Small-for-Gestational-Age Patients: Cost-Effectiveness of Whole-Exome Sequencing and Effectiveness of Treatment with GH.
Arroyo-Ruiz R, Urbano-Ruiz C, García-Berrocal MB, Marcos-Vadillo E, Isidoro-García M, Martín-Alonso MM, Bajo-Delgado AF, Prieto-Matos P, López-Siguero JP. Arroyo-Ruiz R, et al. Among authors: lopez siguero jp. J Clin Med. 2024 Jul 9;13(14):4006. doi: 10.3390/jcm13144006. J Clin Med. 2024. PMID: 39064046 Free PMC article.
Virilizations, are they always adrenal hyperplasias or tumors?
Ariza Jiménez AB, Martin Tejedor B, Lopez-Siguero JP. Ariza Jiménez AB, et al. Among authors: lopez siguero jp. An Pediatr (Engl Ed). 2024 May;100(5):e10-e11. doi: 10.1016/j.anpede.2024.03.019. Epub 2024 Apr 4. An Pediatr (Engl Ed). 2024. PMID: 38580598 Free article. No abstract available.
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A, Cambra A, Santomé JL, Seidel V, Cruz J, Alonso M, Pozo J, Valenzuela I, Guillén-Navarro E, Santos-Simarro F, González-Casado I, Rodríguez A, Medrano C, López-Siguero JP, Ezquieta B. Carcavilla A, et al. Among authors: lopez siguero jp. J Clin Med. 2023 Jul 29;12(15):5003. doi: 10.3390/jcm12155003. J Clin Med. 2023. PMID: 37568403 Free PMC article.
Physical activity patterns in type 1 diabetes in Spain: The SED1 study.
Gómez-Peralta F, Menéndez E, Conde S, Conget I, Novials A; SED and SED1 study investigators. Gómez-Peralta F, et al. BMC Sports Sci Med Rehabil. 2023 Jul 26;15(1):92. doi: 10.1186/s13102-023-00695-3. BMC Sports Sci Med Rehabil. 2023. PMID: 37491278 Free PMC article.
113 results