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Page 1
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
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
Three-dimensional ultrasonography for advanced neurosonography (neurosofe-3D): Validation of a brain volume acquisition guideline.
Maiz N, Tajada M, Rodríguez MÁ, Irasarri A, Molina FS, Tubau A, Burgos J, Alonso I, Plasencia W, Rodó C, Pijoan JI, Belar M, De Paco Matallana C. Maiz N, et al. Among authors: belar m. Acta Obstet Gynecol Scand. 2021 Jan;100(1):84-90. doi: 10.1111/aogs.13996. Epub 2020 Oct 8. Acta Obstet Gynecol Scand. 2021. PMID: 32970823 Free article.
Stress urinary incontinence six months after first vaginal delivery.
Arrue M, Ibañez L, Paredes J, Murgiondo A, Belar M, Sarasqueta C, Diez-Itza I. Arrue M, et al. Among authors: belar m. Eur J Obstet Gynecol Reprod Biol. 2010 Jun;150(2):210-4. doi: 10.1016/j.ejogrb.2010.02.039. Epub 2010 Mar 12. Eur J Obstet Gynecol Reprod Biol. 2010. PMID: 20227161
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.
Do low-risk nulliparous women with abnormal uterine artery Doppler in the third trimester have poorer perinatal outcomes? A longitudinal prospective study on uterine artery Doppler in low-risk nulliparous women and correlation with pregnancy outcomes.
Arrue M, García M, Rodriguez-Bengoa MT, Landa JM, Urbieta L, Maiztegui M, Salgueiro L, Belar M, Trecet JC, Lekuona A. Arrue M, et al. Among authors: belar m. J Matern Fetal Neonatal Med. 2017 Apr;30(7):877-880. doi: 10.1080/14767058.2016.1190822. Epub 2016 Jun 8. J Matern Fetal Neonatal Med. 2017. PMID: 27268024
11 results