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Items: 17

1.

PROREPAIR-B: A Prospective Cohort Study of the Impact of Germline DNA Repair Mutations on the Outcomes of Patients With Metastatic Castration-Resistant Prostate Cancer.

Castro E, Romero-Laorden N, Del Pozo A, Lozano R, Medina A, Puente J, Piulats JM, Lorente D, Saez MI, Morales-Barrera R, Gonzalez-Billalabeitia E, Cendón Y, García-Carbonero I, Borrega P, Mendez Vidal MJ, Montesa A, Nombela P, Fernández-Parra E, Gonzalez Del Alba A, Villa-Guzmán JC, Ibáñez K, Rodriguez-Vida A, Magraner-Pardo L, Perez-Valderrama B, Vallespín E, Gallardo E, Vazquez S, Pritchard CC, Lapunzina P, Olmos D.

J Clin Oncol. 2019 Jan 9:JCO1800358. doi: 10.1200/JCO.18.00358. [Epub ahead of print]

PMID:
30625039
2.

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
3.

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
4.

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.

5.

Safety and Feasibility of Rehabilitation Interventions in Children Undergoing Hematopoietic Stem Cell Transplant With Thrombocytopenia.

Ibanez K, Espiritu N, Souverain RL, Stimler L, Ward L, Riedel ER, Lehrman R, Boulad F, Stubblefield MD.

Arch Phys Med Rehabil. 2018 Feb;99(2):226-233. doi: 10.1016/j.apmr.2017.06.034. Epub 2017 Aug 12.

PMID:
28807693
6.

A molecular hypothesis to explain direct and inverse co-morbidities between Alzheimer's Disease, Glioblastoma and Lung cancer.

Sánchez-Valle J, Tejero H, Ibáñez K, Portero JL, Krallinger M, Al-Shahrour F, Tabarés-Seisdedos R, Baudot A, Valencia A.

Sci Rep. 2017 Jun 30;7(1):4474. doi: 10.1038/s41598-017-04400-6.

7.

Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example.

Palomares-Bralo M, Vallespín E, Del Pozo Á, Ibañez K, Silla JC, Galán E, Gordo G, Martínez-Glez V, Alba-Valdivia LI, Heath KE, García-Miñaúr S, Lapunzina P, Santos-Simarro F.

Genet Med. 2017 Nov;19(11):1285-1286. doi: 10.1038/gim.2017.42. Epub 2017 Apr 27. No abstract available.

PMID:
28640240
8.

Peripheral nervous system injury after high-dose single-fraction image-guided stereotactic radiosurgery for spine tumors.

Stubblefield MD, Ibanez K, Riedel ER, Barzilai O, Laufer I, Lis E, Yamada Y, Bilsky MH.

Neurosurg Focus. 2017 Mar;42(3):E12. doi: 10.3171/2016.11.FOCUS16348.

9.

Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants.

Santos-Simarro F, Vallespin E, Del Pozo A, Ibañez K, Silla JC, Fernandez L, Nevado J, González-Pecellín H, Montaño VEF, Martin R, Alba Valdivia LI, García-Miñaúr S, Lapunzina P, Palomares-Bralo M.

Clin Genet. 2017 Sep;92(3):350-351. doi: 10.1111/cge.12965. Epub 2017 Mar 30. No abstract available.

PMID:
28074499
10.

Short-Interval Retreatment With Stereotactic Body Radiotherapy (SBRT) for Pediatric Neuroblastoma Resulting in Severe Myositis.

Taunk NK, Kushner B, Ibanez K, Wolden SL.

Pediatr Blood Cancer. 2016 Apr;63(4):731-3. doi: 10.1002/pbc.25863. Epub 2016 Jan 25.

11.

Deletion at 6q24.2-26 predicts longer survival of high-grade serous epithelial ovarian cancer patients.

Kamieniak MM, Rico D, Milne RL, Muñoz-Repeto I, Ibáñez K, Grillo MA, Domingo S, Borrego S, Cazorla A, García-Bueno JM, Hernando S, García-Donas J, Hernández-Agudo E, Y Cajal TR, Robles-Díaz L, Márquez-Rodas I, Cusidó M, Sáez R, Lacambra-Calvet C, Osorio A, Urioste M, Cigudosa JC, Paz-Ares L, Palacios J, Benítez J, García MJ.

Mol Oncol. 2015 Feb;9(2):422-36. doi: 10.1016/j.molonc.2014.09.010. Epub 2014 Oct 5.

12.

Carpal tunnel syndrome in breast cancer survivors with upper extremity lymphedema.

Stubblefield MD, Kim A, Riedel ER, Ibanez K.

Muscle Nerve. 2015 Jun;51(6):864-9. doi: 10.1002/mus.24506.

PMID:
25363331
13.

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.

Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689.

PMID:
25196541
14.

Molecular evidence for the inverse comorbidity between central nervous system disorders and cancers detected by transcriptomic meta-analyses.

Ibáñez K, Boullosa C, Tabarés-Seisdedos R, Baudot A, Valencia A.

PLoS Genet. 2014 Feb 20;10(2):e1004173. doi: 10.1371/journal.pgen.1004173. eCollection 2014 Feb.

15.

A common structural scaffold in CTD phosphatases that supports distinct catalytic mechanisms.

Pons T, Paramonov I, Boullosa C, Ibáñez K, Rojas AM, Valencia A.

Proteins. 2014 Jan;82(1):103-18. doi: 10.1002/prot.24376. Epub 2013 Sep 10.

PMID:
23900790
16.

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data.

Frenkel-Morgenstern M, Gorohovski A, Lacroix V, Rogers M, Ibanez K, Boullosa C, Andres Leon E, Ben-Hur A, Valencia A.

Nucleic Acids Res. 2013 Jan;41(Database issue):D142-51. doi: 10.1093/nar/gks1041. Epub 2012 Nov 9.

17.

Safety and tolerability of serial home infusions of nesiritide for advanced heart failure.

Chung ES, Menon SG, Daly KA, Atkinson J, Peterson T, Robertson R, Ibanez K, Kereiakes DJ.

Am J Cardiol. 2006 May 1;97(9):1370-3. Epub 2006 Mar 20.

PMID:
16635613

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