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Items: 6


Constitutional mosaicism in RASA1-related capillary malformation-arteriovenous malformation (CM-AVM).

Gordo G, Rodriguez-Laguna L, Agra N, Mendez P, Feito M, Lapunzina P, Lopez-Gutierrez JC, Martinez-Glez V.

Clin Genet. 2019 Jan 11. doi: 10.1111/cge.13499. [Epub ahead of print]


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.

J Exp Med. 2018 Dec 27. pii: jem.20181353. doi: 10.1084/jem.20181353. [Epub ahead of print]


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.

Genet Med. 2018 Aug;20(8):882-889. doi: 10.1038/gim.2017.200. Epub 2018 Feb 15.


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.

Clin Genet. 2018 Apr;93(4):762-775. doi: 10.1111/cge.13135. Epub 2018 Feb 13.


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.

PLoS One. 2015 Aug 28;10(8):e0136812. doi: 10.1371/journal.pone.0136812. eCollection 2015.


Impact of NGS in the medical sciences: Genetic syndromes with an increased risk of developing cancer as an example of the use of new technologies.

Lapunzina P, López RO, Rodríguez-Laguna L, García-Miguel P, Martínez AR, Martínez-Glez V.

Genet Mol Biol. 2014 Mar;37(1 Suppl):241-9. Review.

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