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Items: 7

1.

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]

PMID:
30591517
2.

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.

PMID:
29446767
3.

Copy number variants of Ras/MAPK pathway genes in patients with isolated cryptorchidism.

Rodríguez F, Vallejos C, Giraudo F, Unanue N, Hernández MI, Godoy P, Célis S, Martín-Arenas R, Palomares-Bralo M, Heath KE, López MT, Cassorla F.

Andrology. 2017 Sep;5(5):923-930. doi: 10.1111/andr.12390. Epub 2017 Jul 10.

4.

Next generation sequencing in the diagnosis of Stargardt's disease.

Jimenez-Rolando B, Noval S, Rosa-Perez I, Mata Diaz E, Del Pozo A, Ibañez C, Silla JC, Montaño VEF, Martin-Arenas R, Vallespin E.

Arch Soc Esp Oftalmol. 2018 Mar;93(3):119-125. doi: 10.1016/j.oftal.2017.03.012. Epub 2017 May 29. English, Spanish.

PMID:
28571903
5.

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.

Blanco-Kelly F, Palomares M, Vallespín E, Villaverde C, Martín-Arenas R, Vélez-Monsalve C, Lorda-Sánchez I, Nevado J, Trujillo-Tiebas MJ, Lapunzina P, Ayuso C, Corton M.

PLoS One. 2017 Feb 23;12(2):e0172363. doi: 10.1371/journal.pone.0172363. eCollection 2017.

6.

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.

7.

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.

Nevado J, Rosenfeld JA, Mena R, Palomares-Bralo M, Vallespín E, Ángeles Mori M, Tenorio JA, Gripp KW, Denenberg E, Del Campo M, Plaja A, Martín-Arenas R, Santos-Simarro F, Armengol L, Gowans G, Orera M, Sanchez-Hombre MC, Corbacho-Fernández E, Fernández-Jaén A, Haldeman-Englert C, Saitta S, Dubbs H, Bénédicte DB, Li X, Devaney L, Dinulos MB, Vallee S, Crespo MC, Fernández B, Fernández-Montaño VE, Rueda-Arenas I, de Torres ML, Ellison JW, Raskin S, Venegas-Vega CA, Fernández-Ramírez F, Delicado A, García-Miñaúr S, Lapunzina P.

Eur J Hum Genet. 2015 Dec;23(12):1615-26. doi: 10.1038/ejhg.2015.51. Epub 2015 Apr 8.

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