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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. 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.
Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor.
Cabral de Almeida Cardoso L, Rodriguez-Laguna L, Del Carmen Crespo M, Vallespín E, Palomares-Bralo M, Martin-Arenas R, Rueda-Arenas I, Silvestre de Faria PA; GT-CSGP Working Group; García-Miguel P, Lapunzina P, Regla Vargas F, Seuanez HN, Martínez-Glez V. Cabral de Almeida Cardoso L, et al. PLoS One. 2015 Aug 28;10(8):e0136812. doi: 10.1371/journal.pone.0136812. eCollection 2015. PLoS One. 2015. PMID: 26317783 Free PMC article.
mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.
Gordo G, Tenorio J, Arias P, Santos-Simarro F, García-Miñaur S, Moreno JC, Nevado J, Vallespin E, Rodriguez-Laguna L, de Mena R, Dapia I, Palomares-Bralo M, Del Pozo Á, Ibañez K, Silla JC, Barroso E, Ruiz-Pérez VL, Martinez-Glez V, Lapunzina P. Gordo G, et al. Clin Genet. 2018 Apr;93(4):762-775. doi: 10.1111/cge.13135. Epub 2018 Feb 13. Clin Genet. 2018. PMID: 28892148 Free article.
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.
Rodriguez-Laguna L, Ibañez K, Gordo G, Garcia-Minaur S, Santos-Simarro F, Agra N, Vallespín E, Fernández-Montaño VE, Martín-Arenas R, Del Pozo Á, González-Pecellín H, Mena R, Rueda-Arenas I, Gomez MV, Villaverde C, Bustamante A, Ayuso C, Ruiz-Perez VL, Nevado J, Lapunzina P, Lopez-Gutierrez JC, Martinez-Glez V. Rodriguez-Laguna L, et al. Genet Med. 2018 Aug;20(8):882-889. doi: 10.1038/gim.2017.200. Epub 2018 Feb 15. Genet Med. 2018. PMID: 29446767 Free article.
Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly.
Rodriguez-Laguna L, Agra N, Ibañez K, Oliva-Molina G, Gordo G, Khurana N, Hominick D, Beato M, Colmenero I, Herranz G, Torres Canizalez JM, Rodríguez Pena R, Vallespín E, Martín-Arenas R, Del Pozo Á, Villaverde C, Bustamante A, Ayuso C, Lapunzina P, Lopez-Gutierrez JC, Dellinger MT, Martinez-Glez V. Rodriguez-Laguna L, et al. J Exp Med. 2019 Feb 4;216(2):407-418. doi: 10.1084/jem.20181353. Epub 2018 Dec 27. J Exp Med. 2019. PMID: 30591517 Free PMC article.
Capillary malformation with segmental distribution and central atrophy: A series of 7 cases.
Ivars M, Azaña JM, Weibel L, Theiler M, Boixeda P, Norris DI, Martinez-Glez V, Agra N, Rodríguez-Laguna L, Colmenero I, Beato-Merino MJ, López-Gutiérrez JC. Ivars M, et al. J Am Acad Dermatol. 2020 Jul;83(1):213-214. doi: 10.1016/j.jaad.2019.09.016. Epub 2019 Sep 18. J Am Acad Dermatol. 2020. PMID: 31541744 No abstract available.
A case of naevus vascularis mixtus with hypotrophy and hypotrichosis due to mosaic GNA11 mutation.
Rodríguez-Jiménez P, Chicharro P, Llamas-Velasco M, Moyano B, Sánchez-Carpintero I, López-Gutiérrez JC, Martinez-Glez V, Rodríguez-Laguna L, Torrelo A. Rodríguez-Jiménez P, et al. J Eur Acad Dermatol Venereol. 2020 Aug;34(8):e420-e422. doi: 10.1111/jdv.16369. Epub 2020 Apr 30. J Eur Acad Dermatol Venereol. 2020. PMID: 32180285 No abstract available.
24 results